Learning and Developmental PART

Disorders IV
ETIOLOGY AND PATHOGENESIS
Chapter 49 Neurodevelopmental and executive dysfunction may result from a
broad range of etiologic factors, including genetic, medical, psycho-

Neurodevelopmental and logic, environmental, and sociocultural influences.

A high degree of heritability is reported in learning and attention dis-
orders, with estimates ranging from 45% to 80%, but identification of
Executive Function and specific gene associations is elusive. Neurodevelopmental dysfunctions
generally fall along a continuum of traits with disorders becoming evi-
Dysfunction dent at extremes of dimensions or thresholds of dysfunction. The same
genetic and early environmental risk factors that are associated with a
disorder such as ADHD also predict trait levels in the general popula-
Desmond P. Kelly and Darla H. McCain tion. Specific genes have been identified as associated with reading dis-
orders, including the DYX2 locus on chromosome 6p22 and the DYX3
locus on 2p12. Neuroimaging studies have confirmed links between gene
TERMINOLOGY AND EPIDEMIOLOGY variations and variations in cortical thickness in areas of the brain known
A neurodevelopmental function is a basic brain process needed for to be associated with learning and academic performance, such as the
learning and productivity and involves the following core neurode- temporal regions. Chromosomal abnormalities can lead to unique pat-
velopmental domains: sensory, motor, language, visual-­spatial/visual-­ terns of dysfunction, such as visual-­spatial deficits in females diagnosed
perceptual, intellectual, memory, social cognition, and executive with Turner syndrome (see Chapter 99.4) or executive and language
function. Executive function (EF) is a broad term used to describe deficits in children with fragile X syndrome (see Chapter 99.6). Chromo-
specific neurocognitive processes involved in the regulating, guid- some 22q11.2 deletion syndrome (see Chapter 99.3) has been associated
ing, organizing, and monitoring of thoughts and actions to achieve a with predictable patterns of neurodevelopmental and executive dysfunc-
specific goal. Processes considered to be “executive” in nature include tion that can be progressive, including a higher prevalence of intellectual
inhibition/impulse control, cognitive/mental flexibility, emotional disability and deficits in visual-­spatial processing, attention, working
control, initiation skills, planning, organization, working memory, and memory (e.g., the ability to hold and manipulate information over short
self-­monitoring. periods), verbal learning, arithmetic, and language.
Neurodevelopmental variation refers to differences in neurodevel- Perinatal factors, including very low birthweight, severe intrauter-
opmental functioning. Wide variations in these functions exist within ine growth restriction, perinatal hypoxic-­ischemic encephalopathy, and
and between individuals. These differences can change over time and prenatal exposure to substances such as alcohol and drugs or infections,
need not represent pathology or abnormality. may independently disrupt neurodevelopment or exacerbate genetic
Neurodevelopmental and/or executive dysfunctions reflect any vulnerabilities. Increased risk of neurodevelopmental and executive dys-
disruptions or weaknesses in these processes, which may result from function has also been associated with environmental toxins, including
neuroanatomic disturbance or neuropsychologic malfunctioning. lead (see Chapter 761); drugs such as cocaine; infections such as men-
Neurodevelopmental and/or executive dysfunction places a child at ingitis, HIV, and Zika; and brain injury associated with intraventricular
risk for developmental, cognitive, emotional, behavioral, psychosocial, hemorrhage, periventricular leukomalacia, or head trauma. The negative
and adaptive challenges. Preschool-­age children with neurodevelop- academic impact of concussion in children and adolescents, although
mental or executive dysfunction may manifest delays in developmen- usually temporary, has been well characterized, including impaired con-
tal domains such as language, motor, self-­help, or social-­emotional centration and slowed processing speed. Repeated injuries have a much
development and self-­regulation. For the school-­age child, an area of higher likelihood of long-­term negative neurocognitive effects.
particular focus is academic skill development. It is at this age that dis- Early psychologic trauma may result in both structural and neu-
orders of learning are often diagnosed. The Diagnostic and Statistical rochemical changes in the developing brain, which may contribute to
Manual of Mental Disorder, Fifth Edition (DSM-­5) classifies disorders neurodevelopmental and executive dysfunction. Exposure to trauma,
of learning within the group of neurodevelopmental disorders as spe- abuse, or other adverse experiences in early childhood in the absence
cific learning disorder (SLD), with separate specifiers recognizing of positive experiences—primarily safe, stable, and nurturing relation-
impairments in reading, written expression, and mathematics. In the ships—can lead to diminished regulatory influences mediated by key
International Classification of Diseases, Tenth Edition (ICD-­10), neu- brain regions (hippocampus and prefrontal cortex) and may influ-
rodevelopmental disorders include specific developmental disorders ence right hemisphere function with associated risk for problems with
of scholastic skills with specific reading disorder, mathematics disor- information processing, memory, focus, and self-­regulation. Environ-
der, and disorder of written expression. Dyslexia is a term used more mental and sociocultural deprivation can also lead to, or potentiate,
frequently by neurologists and by some advocacy groups to describe neurodevelopmental and executive dysfunction, and numerous studies
reading disorders. Disorders of EF have traditionally been viewed as have indicated that parent/caregiver executive functioning affects the
a component of attention-­deficit/hyperactivity disorder (ADHD), development of EFs in children.
which is also classified in DSM-­5 as a neurodevelopmental disorder. Investigations of neuroanatomic substrates have yielded important
Frontal lobe and executive function deficit is a recognized diagnostic information about the underlying pathogenesis in neurodevelopmen-
term used primarily by neuropsychologists. tal and executive dysfunction. Differences have been demonstrated in
There are no prevalence estimates specifically for neurodevelopmen- the left parietotemporal and left occipitotemporal brain regions of indi-
tal dysfunction, but overall estimates for learning disorders range from viduals with dyslexia compared to those without reading difficulties (see
5% to 10% or more with a similar range reported for ADHD. These Chapter 51). Studies have also described the neural circuitry, primar-
disorders frequently co-­occur. The range in prevalence is related to ily in the parietal cortex, underlying mathematical competencies such
differences in criteria used for classification and diagnosis, the over- as the processing of numerical magnitude and mental arithmetic. The
lap and interaction of neurodevelopmental variations, and differing associations between executive dysfunction and the prefrontal/frontal
methods of assessment. cortex have been established, and injury to the frontal lobe regions often

300
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 Chapter 49 u Neurodevelopmental and Executive Function and Dysfunction 301

result in dysfunction of executive abilities (e.g., poor inhibitory con- understanding) and expressive (speech and language production and/
trol). Although the prefrontal/frontal cortex may be the primary control or communication) functions (see Chapter 53). Children who primar-
region for EFs, there is considerable interconnectivity between the brain’s ily experience receptive language problems may have difficulty under-
frontal regions and other areas, such as arousal systems (reticular activat- standing verbal information, following instructions and explanations,
ing system), motivational and emotional systems (limbic system), corti- and interpreting what they hear. Expressive language weaknesses can
cal association systems (posterior/anterior; left/right hemispheres), and result from problems with speech production and/or problems with
input/output systems (frontal motor/posterior sensory areas). higher-­level language development. Speech production difficulties
include oromotor problems affecting articulation, verbal fluency, and
CORE NEURODEVELOPMENTAL FUNCTIONS naming. Some children have trouble with sound sequencing within
The neurodevelopmental processes that are critical to a child’s success- words. Others find it difficult to regulate the rhythm or prosody of their
ful functioning may best be understood as falling within core neuro- verbal output. Their speech may be dysfluent, hesitant, and inappropri-
developmental domains that are highly integrated. ate in tone. Problems with word retrieval can result in difficulty find-
ing exact words when needed (as in a class discussion) or substituting
Sensory and Motor Function definitions for words (circumlocution).
Sensory development begins well before birth in the primary visual, The basic components of language include phonology (ability to
auditory, and somatosensory cortical regions along with the olfac- process and integrate the individual sounds in words), semantics
tory and gustatory cortices. This neurodevelopmental process is cru- (understanding the meaning of words), syntax (mastery of word order
cial in helping children experience, understand, and manipulate their and grammatical rules), discourse (processing and producing para-
environments. Sensory development progresses in association with graphs and passages), metalinguistics (ability to think about and ana-
environmental exposure and with the development of other cognitive lyze how language works and draw inferences), and pragmatics (social
processes, such as motor development. Through sensory experiences, understanding and application of language). Children who evidence
children’s brains mature as new neuronal pathways are created and higher-­level expressive language impediments have trouble formulat-
existing pathways are strengthened. ing sentences, using grammar appropriately, and organizing spoken
There are three distinct, yet related, forms of neuromotor ability: (and possibly written) narratives.
fine motor, graphomotor, and gross motor coordination. Fine motor To one degree or another, all academic skills are taught largely
function reflects the ability to control the muscles that produce small, through language, and thus it is not surprising that children who expe-
exact movements. Deficits in fine motor function can disrupt the abil- rience language dysfunction often experience problems with academic
ity to communicate in written form and to excel in artistic and crafts performance. In fact, some studies suggest that up to 80% of children
activities and can interfere with learning a musical instrument or who present with a specific learning disorder also experience language-­
mastering a computer keyboard. based weaknesses. Additionally, the role of language in executive
Graphomotor function refers to the specific motor aspects of written functioning cannot be understated, because language serves to guide
output. Several subtypes of graphomotor dysfunction can significantly cognition and behavior.
impede writing. Children who harbor weaknesses of visualization dur-
ing writing have trouble picturing the configurations of letters and Visual-­Spatial/Visual-­Perceptual Function
words as they write (orthographics), with poorly legible written output Important structures involved in the development and function of
and inconsistent spacing between words. Others have weaknesses in the visual system include the retina, the optic nerves, the brainstem
orthographic memory and may labor over individual letters and prefer (control of automatic responses, e.g., pupil dilation), the thalamus
printing (manuscript) to cursive writing. Some exhibit signs of finger (e.g., lateral geniculate nucleus for form, motion, color), and the
agnosia and have trouble localizing their fingers while they write, need- primary (visual space and orientation) and secondary (color percep-
ing to keep their eyes very close to the page and applying excessive tion) visual processing regions located in and around the occipital
pressure to the pencil. Others struggle to produce the highly coordi- lobe. Other brain areas, although considered to be outside of the pri-
nated motor sequences needed for writing. It is important to empha- mary visual system, are also important to visual function, helping to
size that a child may show excellent fine motor dexterity (as revealed process what is seen (temporal lobe) and where it is located in space
in mechanical or artistic domains) but very poor graphomotor fluency (parietal lobe).
(with labored or poorly legible writing). Critical aspects of visual processing development in the child
Gross motor function refers to control of large muscles. Children include appreciation of spatial relations (ability to perceive objects
with gross motor incoordination often have problems in processing accurately in space in relation to other objects), visual discrimination
“outer spatial” information to guide gross motor actions. Affected chil- (ability to differentiate and identify objects based on their individual
dren may be inept at catching or throwing a ball because they cannot attributes, e.g., size, shape, color, form, position), and visual closure
form accurate judgments about trajectories in space. Others demonstrate (ability to recognize or identify an object when the entire object cannot
diminished body position sense. They do not efficiently receive or inter- be seen). Visual-­spatial processing dysfunctions are rarely the cause of
pret proprioceptive and kinesthetic feedback from peripheral joints and reading disorders, but some investigations have established that defi-
muscles. They are likely to evidence difficulties when activities demand cits in orthographic coding (visual-­spatial analysis of character-­based
balance and tracking of body position and movement. Others are unable systems) can contribute to reading disorders. Spelling and writing can
to meet the motor planning demands of complex motor procedures such emerge as a weakness because children with visual processing problems
as those needed for dancing, gymnastics, or swimming. usually have trouble with the precise visual configurations of words.
The term dyspraxia relates to difficulty in developing an ideomotor In mathematics, these children often have difficulty with visual-­spatial
plan and activating coordinated and integrated visual-­motor actions to orientation, with resultant difficulty aligning digits in columns when
complete a task or solve a motor problem, such as assembling a model performing calculations and difficulty managing geometric material.
or learning a new movement. In the social realm, intact visual processing allows a child to make use
Developmental coordination disorder is categorized in DSM-­5 as a of visual or physical cues when communicating and interpreting the
motor disorder where the learning and execution of coordinated motor paralinguistic aspects of language. Secure visual functions are also
skills is below age level given the child’s opportunity for skill learning, necessary to process proprioceptive and kinesthetic feedback and to
and the motor difficulties significantly interfere with activities of daily coordinate movements during physical activities.
living, academic productivity, and play.
Intellectual Function
Language A useful definition of intellectual function is the capacity to think
Language is one of the most critical and complex cognitive functions in the abstract, reason, problem-­solve, and comprehend. Intelligence
and can be broadly divided into receptive (auditory comprehension/ is viewed as a global construct composed of more specific cognitive

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302 Part IV u Learning and Developmental Disorders

functions (e.g., auditory and visual-­perceptual processing, spatial abili- an individual to understand and interact with the social environment.
ties, processing speed, and working memory). Although some evidence shows that social cognition exists as a discrete
The expression of intellect is mediated by many factors, includ- area of neurodevelopmental function, multiple cognitive processes are
ing language development, sensorimotor abilities, genetics, heredity, involved with social cognition. These include the ability to recognize,
environment, and neurodevelopmental function. When an individu- interpret, and make sense of the thoughts, communications (verbal and
al’s measured intelligence is >2 standard deviations below the mean nonverbal), and actions of others; the ability to understand that oth-
(a standard score of <70 on most IQ tests) and accompanied by sig- ers’ perceptions, perspectives, and intentions might differ from one’s
nificant weaknesses in adaptive skills, the diagnosis of intellectual own (commonly referred to as “theory of mind”); the ability to use lan-
disability may be warranted (see Chapter 56). Functionally, some guage to communicate with others socially (pragmatic language); and
common characteristics distinguish children with intellectual disabil- the ability to make inferences about others and the environment based
ity from those with average or above-­average abilities. Typically, those on contextual information. It can also be argued that social cognition
at the lowest end of the spectrum (e.g., profound or severe intellec- involves processes associated with memory and EFs, such as flexibility
tual disability) are incapable of independent function and require a and shifting. Children with autism spectrum disorder harbor deficits in
highly structured environment with constant aid and supervision. At social cognition (see Chapter 58).
the other end of the spectrum are those with unusually well-­developed
intellect (“gifted”). Stronger intellect has been associated with better-­ Executive Function
developed concept formation, critical thinking, problem solving, EF involves multiple skills (Table 49.1) that begin development early in
understanding and formulation of rules, brainstorming and creativity, life (early indications of inhibitory control and even working memory
and metacognition (ability to “think about thinking”). Although high have been found in infancy), mature significantly during the preschool
levels of intellectual functioning offer many opportunities, they can years, and continue to develop through adolescence and well into adult-
also be associated with functional challenges related to socialization, hood. Some studies suggest that secure EF may be more important
learning, and communication style. than intellectual ability for academic success and have revealed that
Individuals whose intellect falls in the below-­average range (some- a child’s ability to delay gratification early in life predicts competency,
times referred to as the “borderline” or “slow learner” range) tend to attention, self-­regulation, frustration tolerance, aptitude, physical and
experience greater difficulty processing and managing information mental health, and even risk for substance dependency in adolescence
that is abstract, making connections between concepts and ideas, and and adulthood. Conversely, deficits in other areas of neurodevelopment,
generalizing information (e.g., may be able to comprehend a concept in such as language development, affect EF.
one setting but be unable to carry it over and apply it in different situ- Attention is far from a unitary, independent, or specific brain func-
ations). In general, these individuals tend to do better when informa- tion. This may be best illustrated through the phenotype associated
tion is presented in more concrete and explicit terms (with repetition) with ADHD (see Chapter 50). Disordered attention can result from
and when working with rote information (e.g., memorizing specific faulty mechanisms in and across subdomains of attention. These sub-
material). domains include selective attention (ability to focus attention on a
particular stimulus and to discriminate relevant from irrelevant infor-
Memory mation), divided attention (ability to orient to more than one stimulus
Memory is a term used to describe the complex, cognitive mechanism at a given time), sustained attention (ability to maintain one’s focus),
by which information is acquired, retained, and recalled. Major brain and alternating attention (capacity to shift focus between stimuli).
areas involved in memory processing include the hippocampus, fornix, Attention problems in children can manifest at any point, from
temporal lobes, and cerebellum, with connections in and between most arousal through output. Children with diminished alertness and
brain regions. Memory consists of multiple distinct and interconnected
subsystems that are categorized based on the length of time informa-
tion is stored (e.g., short-­term memory, long-­term memory), type of
information stored (e.g., events, facts, procedures, emotional associa- Table 49.1  Symptom Expression of Executive Dysfunction
tions, conditioned reflexes), modality of the information (e.g., visual,
auditory, olfactory), and whether memories are consciously recalled EXECUTIVE
(explicit memory) or unconsciously recalled (implicit memory). FUNCTION
Information processing models also include working memory as a DEFICIT SYMPTOM EXPRESSION
distinct component. Inhibitory control Impulsivity/poor behavioral regulation
Memory formation begins with sensory input (e.g., auditory, visual, Interrupts
tactile) that is identified, or registered, and subsequently encoded. “Blurts things out”
Encoding is a mental process that transforms perceptual input into a Shifting Problems with transitioning from one task/activity
representational code for the memory system. Information in short-­ to another
term memory is transferred into long-­term memory through the pro- Unable to adjust to unexpected change
cess of consolidation and storage. Information capacity in short-­term Repeats unsuccessful problem-­solving approaches
memory is limited and brief, lasting for seconds to minutes, whereas Initiation Difficulty independently beginning tasks/activities
information in long-­term memory is potentially unlimited in terms of Lacks initiative
Difficulty developing ideas or making decisions
capacity and can be available for hours or as long as a life span.
Working Challenges following multistep instruction (e.g.,
Once information finds its way into long-­term memory, it must be memory only completes one of three steps)
accessed. In general, information can be retrieved spontaneously (a Forgetfulness
process known as free recall) or with the aid of cues (cued or recogni- Organization Fails to plan ahead
tion recall). With deliberate, repeated practice, children can develop and planning Work is often disorganized
automaticity, the ability to instantaneously and effortlessly access Procrastinates and does not complete tasks
information that has been learned in the past. Automaticity frees cog- “Messy” child
nitive resources to process other information and promote learning. Self-­monitoring Fails to recognize errors and check work
For example, automaticity in decoding words allows a child to focus on Does not appreciate impact of actions on others
the meaning of the text. Poor self-­awareness
Emotional Experiences behavioral and emotional outbursts
Social Cognition control (e.g., tantrums)
The development of effective social skills is heavily dependent on Easily upset/frustrated
Frequent mood changes
secure social cognition, which consists of mental processes that allow

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 Chapter 49 u Neurodevelopmental and Executive Function and Dysfunction 303

arousal can exhibit signs of mental fatigue in a classroom or when and more complex instructions and tasks. WM capacity can double or
engaged in any activity requiring sustained focus. They are apt to have triple between the preschool years and adolescence. In the classroom, a
difficulty directing and sustaining their concentration, and their efforts child with a weakness in working memory might appear inattentive or
may be erratic and unpredictable, with extreme performance incon- careless when completing their work. When doing math, a child with
sistency. Weaknesses in determining saliency often result in allocat- WM dysfunction might have difficulty carrying a number and follow-
ing cognitive resources to the wrong stimuli, at home, in school, and ing the expected procedure. When reading a paragraph, a child might
socially, and missing important information. Distractibility can take not recall key facts or be able to integrate information when reading,
the form of listening to extraneous noises instead of a teacher, staring particularly long paragraphs. For writing tasks, a child might leave out
out the window, or constantly thinking about the future. Attention dys- ideas they intended to express while they are recalling grammar rules,
function can affect the output of work, behavior, and social activity. It such as placing a comma, and working on spelling a word correctly.
is important to appreciate that most children with attentional dysfunc- Planning refers to the ability to effectively generate, sequence, and
tion also have other forms of neurodevelopmental dysfunction that can put into motion the steps and procedures necessary to realize a specific
be associated with academic disorders (with some estimates suggesting goal. In real-­world settings, children who struggle with planning are
up to 60% comorbidity). typically described by caregivers and teachers as being inept at inde-
Inhibitory control (IC) can be described as one’s ability to restrain, pendently gathering what is required to solve a problem or as unable to
resist, and not act (cognitively or behaviorally/emotionally) on a complete more weighty assignments. These children commonly exhibit
thought. IC may also be seen as one’s ability to stop thoughts or ongo- poor time management skills.
ing actions. Deficits in this behavioral/impulse regulation mechanism Organization is an ability that represents a child’s proficiency in
are a core feature of the combined or hyperactive impulsive presenta- arranging, ordering, classifying, and categorizing information. Plan-
tion of ADHD and have a significant adverse impact on a child’s overall ning and organizing depend on discrimination ability, which refers to
functioning. In everyday settings, children with weak IC may exhibit the child’s ability to determine what is and is not valuable when trying
difficulties with self-­ control and self-­ monitoring of their behavior to problem-­solve or organize. Common daily life challenges associated
and output (e.g., impulsivity), may not recognize their own errors or with organizational difficulties in childhood include problems with
mistakes, and often act prematurely and without consideration of the gathering and managing materials or items. When children struggle
potential consequences of their actions. In the social context, disin- with organization, indirect consequences may include becoming over-
hibited children may interrupt others and demonstrate other impul- whelmed with information and being unable to complete a task or
sive behaviors that often interfere with interpersonal relationships. The activity. Effective organization is a vital component in learning (more
indirect consequences of poor IC can include challenges with behav- specifically, in memory/retention); many studies, along with clinical
ior, emotional regulation, and academic functioning and have adverse experience, have shown that poor organization significantly affects
impacts on social interactions and safety. how well a child recalls information.
Shifting is the ability to transition from one activity, topic, or aspect Self-­monitoring involves awareness and assessment of one’s actions,
of a problem to another when needed. Effective shifting allows a child whether it be a work product (e.g., writing an essay) or social interac-
to flexibly move through their day, tolerating changes in schedule and tion with another. This EF allows one to evaluate and make necessary
routine. Additionally, shifting allows a child to change strategies when corrections. Children with difficulty in self-­monitoring fail to recognize
working a problem and adjust to changes in topics when conversing with errors in their work and struggle with editing. When interacting with
others. Children with difficulties in shifting can become quickly upset others, they may not realize how their verbal and nonverbal behaviors
in novel situations (e.g., when presented with a substitute teacher) and are being perceived, ultimately missing opportunities to correct their
show marked resistance to change in routine. They can get stuck on one behavior and resulting in poor social interactions.
problem-­ solving strategy, which compromises their work efficiency. Emotional control is the ability to regulate emotions in order to
Socially, problems with shifting can result in one-­sided conversations, realize goals and direct one’s behavior, thoughts, and actions. It has
negatively affecting a child’s ability to build and maintain friendships. been well established that affective/emotional states have an impact on
Initiation refers to the ability to independently begin an activity, many aspects of functioning. Conversely, executive function or dys-
a task, or thought process (e.g., problem-­solve). Children who pres- function often contributes to modulation of affect. Although emotional
ent with initiation difficulties often have trouble “getting started.” This control is highly interrelated with different EFs (e.g., disinhibition, self-­
can be exhibited behaviorally, such that the child struggles to start on monitoring), separating it conceptually facilitates an appreciation for
physical activities like getting out of bed or beginning chores. Cogni- and recognition of the often-­overlooked role that a child’s emotional
tively, weaknesses in initiation may manifest as difficulty coming up state plays in cognitive and behavioral functioning. Children with weak
with ideas or generating plans. In school, children who have poor ini- emotional control may exhibit explosive outbursts, poor temper/anger
tiation abilities may be slow or unable to start homework assignments control, and oversensitivity. Understanding a child’s emotional state is
or tests. In social situations, initiation challenges may cause a child to vital to understanding its impact not only on executive functioning but
have difficulty beginning conversations, calling on friends, or going out also on functioning as a whole (e.g., socially, mentally, behaviorally,
with friends. academically).
Deficits in “primary” initiation are relatively rare and are often asso- Any discussion involving emotional control should also recognize
ciated with significant neurologic conditions and treatments (e.g., trau- motivation. Motivation/effort may be defined as the reason or reasons
matic brain injury, anoxia, effects of radiation treatment in childhood one acts or behaves in a certain way. Less motivated children are less
cancer). More often, initiation deficits are secondary to other execu- likely to engage and utilize all their abilities. Such a disposition not
tive problems (e.g., disorganization) or behavioral (e.g., oppositional/ only interferes with application of executive skills but also results in
defiant behaviors), developmental (e.g., autism spectrum disorder), or less-­than-­optimal performance and functioning. The less success a
emotional (e.g., depression, anxiety) disorders. child feels, the less likely the child is to put forth effort and to persevere
Working memory (WM) can be defined as the ability to hold, when things become more challenging. If a child’s initial efforts are met
manipulate, and store information for short periods. In its simplest with a negative reaction, the likelihood that the child will continue put-
form, WM involves the interaction of short-­term verbal and visual ting forth adequate effort diminishes. If left unchecked, a child’s over-
processes (e.g., memory, phonologic awareness, and spatial skills) with all level of functioning will likely be compromised. More importantly,
a centralized control mechanism that is responsible for coordinating all the child’s sense of personal efficacy (e.g., self-­esteem) and competence
the cognitive processes involved (e.g., temporarily suspending infor- may suffer.
mation in memory while manipulating it). Ultimately, this function
enables new information arriving in short-­term memory to be linked CLINICAL MANIFESTATIONS
to prior knowledge or procedures held in long-­term memory. As such, The symptoms and clinical manifestations of neurodevelopmental
working memory is critical to be able to complete multistep problems and executive dysfunction differ with age. Preschool-­age children

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304 Part IV u Learning and Developmental Disorders

might present with delayed language development, including prob- In middle school children the substantial increase in cognitive, aca-
lems with articulation, vocabulary development, word finding, and demic, and regulatory demands can cause further difficulties for those
rhyming. They often experience early challenges with learning colors, with existing neurodevelopmental and executive challenges. In reading
shapes, letters, numbers, the alphabet, and days of the week. Children and writing, middle school children might present with transposition
with visual processing deficits may have difficulty learning to draw and sequencing errors; might struggle with root words, prefixes, and
and write and have problems with art activities. These children might suffixes; might have difficulty with written expression; and might avoid
also have trouble discriminating between left and right. They might reading and writing altogether. Challenges completing word problems
encounter problems recognizing letters and words. Difficulty following in math are common. Difficulty with recall of information might also
instructions, overactivity, and distractibility may be early symptoms be experienced. Although observable in both lower and more advanced
of emerging executive dysfunction. Difficulties with fine motor devel- grades, behavioral, emotional, and social difficulties tend to become
opment (e.g., grasping crayons/pencils, coloring, drawing) and social more salient in middle school children who experience cognitive or
interaction may develop. These manifestations should be considered academic problems.
as potential “red flags” for future learning challenges (see “Assessment High school students can present with deficient reading compre-
and Diagnosis”). hension, written expression, and slower processing efficiency. Difficulty
School-­age children with neurodevelopmental and executive dys- in answering open-­ended questions, dealing with abstract information,
functions can vary widely in clinical presentations. Their specific pat- and deploying executive control (e.g., self-­monitoring, organization,
terns of academic performance and behavior represent final common planning, self-­starting) is often reported.
pathways of neurodevelopmental strengths and deficits interacting
with environmental, social, or cultural factors; temperament; educa- Academic Problems
tional experience; and intrinsic resilience (Table 49.2). Children with Reading disorders (see Chapter 51) can stem from a number of neu-
language weaknesses might have problems integrating and associating rodevelopmental dysfunctions, as described earlier (see Table 49.2).
letters and sounds, decoding words, deriving meaning, and being able Most often, language and auditory processing weaknesses are present,
to comprehend passages. Children with early signs of a mathematics as evidenced by poor phonologic processing that results in deficiencies
weakness might have difficulty with concepts of quantity or with add- at the level of decoding individual words and, consequently, a delay in
ing or subtracting without using concrete representation (e.g., their automaticity (e.g., acquiring a repertoire of words readers can iden-
fingers when calculating). Difficulty learning time concepts and con- tify instantly) that causes reading to be slow, laborious, and frustrat-
fusion with directions (right/left) might also be observed. Poor fine ing. Deficits in other core neurodevelopmental domains might also be
motor control and coordination and poor planning can lead to writing present. Weak WM might make it difficult for a child to hold sounds
problems. Attention and behavioral regulation weaknesses observed and symbols in mind while breaking down words into their compo-
earlier can continue, and together with other EF weaknesses (e.g., nent sounds, or might cause reading comprehension problems. Some
organization, initiation skills), further complicate the child’s ability children experience temporal-­ordering weaknesses and struggle with
to acquire and generalize new knowledge. Children with weaknesses reblending phonemes into correct sequences. Memory dysfunction
in WM may struggle to remember the steps necessary to complete an can cause problems with recall and summarization of what was read.
activity or problem-­solve. In social settings, these children often have Some children with higher-­order cognitive deficiencies have trouble
difficulty keeping up with more complex conversations. understanding what they read because they lack a strong grasp of the
concepts in a text. Although rare as a cause of reading difficulty, prob-
Table 49.2  Neurodevelopmental Dysfunction Underlying lems with visual-­spatial functions (e.g., visual perception) can cause
Academic Disorders* children difficulty in recognizing letters. It is not unusual for children
with reading problems to avoid reading practice, and a delay in read-
ACADEMIC POTENTIAL UNDERLYING ing proficiency becomes increasingly pronounced and difficult to
­DISORDER ­NEURODEVELOPMENTAL DYSFUNCTION remediate.
Reading Language Spelling and writing impairments share many related underlying
• Phonologic processing processing deficits with reading, so it is not surprising that the two
• Verbal fluency disorders often occur simultaneously in school-­age children (see Table
• Syntactic and semantic skills 49.2). Core neurodevelopmental weaknesses that underlie spelling dif-
Memory ficulties include phonologic and decoding difficulties, orthographic
• Working memory
Sequencing problems (coding letters and words into memory), and morphologic
Visual-­spatial deficits (use of suffixes, prefixes, and root words). Problems in these
Attention areas can manifest as phonetically poor, yet visually comparable,
approximations to the actual word (faght for fight), spelling that is pho-
Written expression, Language netically correct but visually incorrect (fite for fight), and inadequate
spelling • Phonologic processing
• Syntactic and semantic skills spelling patterns (plade for played). Children with memory disorders
Graphomotor might misspell words because of coding weaknesses. Others misspell
Visual-­spatial because of poor auditory WM that interferes with their ability to pro-
Memory cess letters. Sequencing weaknesses often result in transposition errors
• Working memory when spelling.
Sequencing Writing difficulties have been classified as disorder of written
Attention
expression, or dysgraphia (see Table 49.2). Although many of the
Mathematics Visual-­spatial same dysfunctions described for reading and spelling can contribute
Memory to problems with writing, written expression is the most complex of
• Working memory the language arts, requiring synthesis of many neurodevelopmental
Language functions (e.g., auditory, visual-­spatial, memory, executive; see Chap-
Sequencing
ter 52.2). Weaknesses in these functions can result in written output
Graphomotor
Attention that is difficult to comprehend, disjointed, and poorly organized. The
child with WM challenges can lose track of what the child intended to
*Isolated neurodevelopmental dysfunction can lead to a specific academic disorder, but write. Attention deficits can make it difficult for a child to mobilize and
more often there is a combination of factors underlying weak academic performance.
In addition to the dysfunction in neurodevelopmental domains as listed in the table,
sustain the mental effort, pacing, and self-­monitoring demands nec-
the clinician must also consider the possibility of limitations of intellectual and essary for writing. In many cases, writing is laborious because of an
cognitive abilities or associated social and emotional problems. underlying graphomotor dysfunction (e.g., fluency does not keep pace

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 Chapter 49 u Neurodevelopmental and Executive Function and Dysfunction 305

with ideation and language production). Thoughts may also be forgot- In elementary school, review of school report cards and teacher com-
ten or underdeveloped during writing because the mechanical effort ments can provide very useful information. In addition to patterns of
is so taxing. grades in the various academic skill areas, it is also important to review
Weaknesses in mathematical ability, known as mathematics dis- ratings of classroom behavior and work habits. Group-­administered
order or dyscalculia, involve the assimilation of both procedural standardized tests provide further information, although interpre-
knowledge (e.g., calculations) and higher-­order cognitive processes tation is required because poor scores could result from a learning
(e.g., WM) (see Table 49.2). There are many reasons why children disorder, ADHD, emotional problems, lack of motivation, or some
struggle with mathematics (see Chapter 52.1). It may be difficult for combination. Conversely, a discrepancy between above-­average scores
some to grasp and apply math concepts effectively and systematically; on standardized tests and unsatisfactory classroom performance could
good mathematicians are able to use both verbal and perceptual con- signal motivation, adjustment issues, or instructional mismatches.
ceptualization to understand such concepts as fractions, percentages, Challenges related to homework, such as excessive time to complete,
equations, and proportion. Children with language dysfunctions can provide further insight regarding EFs, academic skill, and behav-
have difficulty in mathematics because they have trouble understand- ioral factors or factors related to the home environment.
ing their teachers’ verbal explanations of quantitative concepts and Underlying or associated medical problems should be ruled out. Any
operations and are likely to experience frustration in solving word suspicion of sensory difficulty should warrant referral for vision or
problems and in processing the vast network of technical vocabulary hearing testing. The influence of chronic medical problems or poten-
in math. Mathematics also relies on visualization. Children who have tial side effects of medications should be considered. Sleep deprivation
difficulty forming and recalling visual imagery may be at a disadvan- is increasingly being recognized as a contributor to academic problems,
tage. They might experience problems writing numbers correctly, especially in middle and high school. Substance use must always be a
placing value locations, and processing geometric shapes or fractions. consideration as well, especially in the adolescent previously achieving
Children with executive dysfunction may be unable to focus on fine well who has shown a rapid decline in academic performance.
detail (e.g., operational signs), might take an impulsive approach to The physician should be alert for dysmorphic physical features,
problem solving, engage in little or no self-­monitoring, forget com- minor congenital anomalies, or constellations of physical findings
ponents of the problem, or commit careless errors. When a child’s (e.g., cardiac and palatal anomalies in 22q11.2 deletion syndrome)
memory system is weak, the child might have difficulty recalling and should perform a detailed neurologic examination, including an
appropriate procedures and automatizing mathematical facts (e.g., assessment of fine and gross motor coordination and any involuntary
multiplication tables). Moreover, children with mathematical dis- movements or soft neurologic signs. Genetic testing is often recom-
abilities can have superimposed mathematics phobias; anxiety over mended for children with intellectual disability or autism spectrum
mathematics can be especially debilitating. disorder; electroencephalogram and brain MRI are generally not indi-
cated in the absence of specific medical findings or a family history.
Nonacademic Problems Early signs of executive dysfunction can also be subtle and easily
The impulsivity and lack of effective self-­monitoring of children with overlooked or misinterpreted. Informal inquiry might include ques-
executive dysfunction can lead to unacceptable actions that were unin- tions about how children complete schoolwork or tasks, how organized
tentional. Children struggling with neurodevelopmental dysfunction or disorganized they are, how much guidance they need, whether they
can experience excessive performance anxiety, sadness, or clinical think through problems or respond and react too quickly, what cir-
depression; declining self-­esteem; and chronic fatigue. Some children cumstances or individuals affect their ability to employ EFs, how easily
may lose motivation and feel no need to exert effort and develop future they begin tasks and activities, and how well they plan, manage belong-
goals. These children may be easily led toward dysfunctional interper- ings, and control their emotions.
sonal relationships, detrimental behaviors (e.g., delinquency, substance Pediatricians who are interested in performing further assessment
abuse), and the development of mental health disorders, such as mood before referral, or who are practicing in areas where psychologic test-
disorders (see Chapter 39) or conduct disorder (see Chapter 42). ing resources are limited, can use standardized rating scales and
inventories or brief, individually administered tests to narrow poten-
ASSESSMENT AND DIAGNOSIS tial diagnoses and guide next steps in diagnosis and treatment. Such
Pediatricians have a critical role in identifying and treating the child instruments, completed by the parents, teachers, and the child (if old
with neurodevelopmental or executive dysfunction (Fig. 49.1). They enough), can provide information about emotions and behavior, pat-
have knowledge of the child’s medical and family history and social-­ terns of academic performance, and traits associated with specific neu-
environmental circumstances and have the benefit of longitudinal rodevelopmental dysfunctions (see Chapter 32). Screening instruments
contact over the course of routine health visits. Focused surveillance such as the Pediatric Symptom Checklist and behavioral questionnaires
and screening will facilitate early identification of developmental-­ such as the Child Behavior Checklist (CBCL) and Behavior Assessment
behavioral and preacademic difficulties and interventions to facilitate System for Children, Third Edition (BASC-­3) can aid in evaluation.
optimal outcomes. EFs can be further assessed by instruments such as the Behavior Rat-
A family history of a parent who still struggles with reading or time ing Inventory of Executive Function, Second Edition (BRIEF-­2), which
management or an older sibling who has failed at school should spur provides a comprehensive measure of real-­world behaviors that are
an increased level of monitoring. Risk factors in the medical history, closely tied to executive functioning in children age 5-­18 years. Tests
such as extreme prematurity or chronic medical conditions, should that can be directly administered to gauge intellectual and language
likewise be flagged. Children with low birthweight and those born functioning include the Kaufman Brief Intelligence Test, Second Edition
prematurely who appear to have been spared more serious neurologic (KBIT-­2) and Peabody Picture Vocabulary Test, Fifth Edition (PPVT
problems might only manifest academic problems later in their school 5; assessing receptive vocabulary). A relatively brief test of academic
career. Nonspecific physical complaints or unexpected changes in skills is the Wide Range Achievement Test5 (WRAT5). It should be rec-
behavior might be presenting symptoms. Warning signs might be sub- ognized that these are midlevel tests that can provide descriptive esti-
tle or absent, and parents might have concerns about their child’s learn- mates of function but are not diagnostic.
ing progress but may be reluctant to share these with the pediatrician Children who are struggling academically are entitled to evalua-
unless prompted, such as through completion of standardized devel- tions in school. Such assessments are guaranteed in the United States
opmental screening questionnaires or direct questioning regarding under Public Law 101-­476, the Individuals with Disabilities Educa-
possible concerns. Concerns voiced to parents or caregivers by daycare, tion Act (IDEA). One increasingly common type of evaluation model
preschool, or early elementary teachers might be the first indicators supported by IDEA is referred to as a Response to Intervention (RtI)
of neurodevelopmental dysfunctions. There should be a low threshold model (see Chapter 52.1). In this model, students who are struggling
for initiating further school performance screening and assessment if with academic skills are initially provided research-­based instruc-
there are any concerns or “red flags” (see “Clinical Manifestations”). tion. If a child does not respond to this instruction, an individualized

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306 Part IV u Learning and Developmental Disorders

Primary Care Approach to Neurodevelopmental and Executive Dysfunction

Early Identification

Surveillance Screening
Birth and perinatal history Standardized developmental screening
Medical and family history Emotional-behavioral screening tests
Parent/caregiver concerns School achievement test scores
School or behavioral problems

Medical Assessment

History and Examination Neurodevelopmental & Emotional Assessment

Sleep Abnormal movements; motor coordination;
Associated medical conditions “soft” neurological signs; focal findings
Medications; substance abuse Questionnaires; interview; mid-level tests
Growth; dysmorphic features; exam Report cards; teacher reports

Referral
School testing
Psychologist; Educational Specialist
Developmental-Behavioral Pediatrician
Medical subspecialist; Developmental therapist

Evaluation and Diagnosis

Psychoeducational Assessment Developmental and/or Psychosocial Assessment

Intellectual ability Speech-language; Physical and Occupational
Academic achievement Therapy; Psychology; Social Work;
Executive function Neuropsychology;
Emotional-behavioral function Psychiatry; Neurology; Genetics

Treatment

Medical Home Educational, Developmental, Mental Health

Ensure adequate sleep, nutrition, exercise Accommodations: school and home
Optimize management of associated conditions Interventions: tutoring; special education Fig. 49.1 Algorithm showing
Prescribe and manage medications if needed resource services; developmental therapies components of a primary care ap-
Support child and parents Address executive dysfunction: modeling; proach to identification, diagnosis,
Explain test findings and “demystify” games; strategies; programs and comprehensive multidiscipli-
Advocate for appropriate services; advise on Strengthen strengths and leverage affinities nary management of neurodevel-
nonstandard therapies Counseling opmental and executive dysfunc-
tion.

evaluation by a multidisciplinary team is conducted. Children found The multidisciplinary team should include a psychologist and prefer-
to have attentional dysfunction and other disorders might qualify for ably an educational diagnostician who can undertake a detailed analy-
educational accommodations in the regular classroom under Section sis of academic skills and subskills to pinpoint where breakdowns are
504 of the Rehabilitation Act of 1973 (504 Plan) or might qualify for occurring in the processes of reading, spelling, writing, and mathemat-
an individualized education program (IEP). ics. Other professionals should become involved, as needed, such as a
The pediatrician should advise and support parents regarding speech-­language pathologist, occupational therapist, and social worker.
steps to request evaluations by the school. Multidisciplinary evalua- A mental health specialist can be valuable in identifying family-­based
tions are focused primarily on determining whether a student meets issues or psychiatric disorders that may be complicating or aggravating
the eligibility criteria for special education services and to assist in neurodevelopmental dysfunctions.
developing an IEP for those eligible for these services. Independent In some cases, more in-­depth examination of a child’s neurocog-
evaluations can provide second opinions outside the school setting. nitive status is warranted. This is particularly true for children who

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 Chapter 49 u Neurodevelopmental and Executive Function and Dysfunction 307

present with developmental or cognitive difficulties in the presence through secondary school. A modification changes what the child is
of a medical condition (e.g., epilepsy, traumatic brain injury, child- taught or expected to learn. Modifications include a student learning
hood cancers/brain tumors, genetic conditions). A neuropsychologic different material (e.g., continuing to work on addition and subtrac-
evaluation involves comprehensive assessment to understand brain tion facts while peers move on to fractions) and instructors assigning
functions across domains. Neuropsychologic data are often analyzed grades using a different standard. In high school and college, students
together with other tests, such as MRI, to look for supporting evidence with memory weaknesses might need to work with an advisor to select
of any areas of difficulty (e.g., memory weaknesses associated with courses that avoid an inordinate cumulative memory load in any single
temporal lobe anomalies). Neuropsychologists can also provide more semester. For adolescents with learning disorders, the timing of for-
in-­depth evaluation of EFs. Assessment of EFs is typically completed eign language learning and the selection of mathematics and science
in an examination setting using tools specifically designed to identify courses are critical to their academic success.
any weaknesses in these functions. Although few tools are currently
available to assess EF in preschool-­age children, the assessment of Remediation/Targeted Intervention
school-­age children is better established. Problems with EFs should be Interventions can be implemented at home and in school to strengthen
evaluated across measures and in different settings, particularly within academic skills. Early identification is critical so that appropriate
the context of the child’s daily demands. instructional interventions can be introduced to minimize the long-­
term effects of academic disorders. Any interventions should be
TREATMENT empirically supported (e.g., phonologically based reading intervention
Treatment for neurodevelopmental and executive dysfunction involves has been shown to significantly improve reading skills in school-­age
a multimodal, multidisciplinary “cross-­sector” approach to fos- children). Remediation may take place in a resource room or learn-
ter optimal outcomes. This process begins with demystification, ing center at school and is usually limited to children who have met
which involves educating the child and family about the nature of the the educational criteria for special education services described earlier.
child’s delay or dysfunction while also identifying a child’s strengths. Reading specialists, mathematics tutors, and other professionals can
The explanation of the dysfunction should be provided in nontechni- use diagnostic data to select techniques that use a student’s neurodevel-
cal language, communicating a sense of optimism for improvement opmental strengths to improve decoding skills, writing ability, or math-
with appropriate intervention. Children need to have their affinities, ematical computation skills. Remediation need not focus exclusively
potentials, and talents identified clearly and emphasized as an inte- on specific academic areas. Many students need assistance in acquiring
gral component of the long-­term treatment plan. It is as important to study skills, cognitive strategies, and productive organizational habits.
augment strengths as it is to attempt to remedy deficiencies. Athletic Speech-­language pathologists offer intervention for children with
skills, artistic inclinations, creative talents, and mechanical abilities are various forms of language disability. Occupational therapists focus on
among the potential assets of certain students who are underachieving sensorimotor skills, including the motor skills of students with writing
academically. Parents and school personnel need to create opportuni- problems, and physical therapists address gross motor incoordination.
ties for such students to build on these assets. These well-­developed
personal assets can ultimately have implications for the transition into Treatment of Executive Dysfunction
young adulthood, including career or college selection. Interventions to strengthen EFs can be implemented throughout child-
In the clinic setting, the pediatrician plays an important role as a hood but are most effective if started at a young age. Preschool-­age
consultant and advocate in overseeing and monitoring the imple- children first learn EFs by way of the modeling, boundaries, and rules
mentation of a comprehensive multidisciplinary management plan observed and put in place by their parents/caregivers, and this modeled
for children with neurodevelopmental dysfunctions. The primary behavior must gradually become “internalized” by the child. Early play
care provider should identify and treat any underlying or associated has been shown to be effective in promoting executive skills in younger
medical problems that might contribute to neurodevelopmental and children with games such as peek-­a-­boo (WM); pat-­a-­cake (WM and
EF dysfunction, such as iron deficiency, elevated lead levels, and sleep IC); follow the leader, Simon Says, and “Ring Around the Rosie” (self-­
problems, including inadequate sleep related to poor sleep hygiene or control); imitation activities (attention and impulse control); matching
poor quality of sleep (e.g., obstructive sleep apnea). Additionally, the and sorting games (organization and attention); and imaginary play
pediatrician will need to monitor for conditions that often co-­occur (attention, WM, IC, self-­monitoring, cognitive flexibility).
with neurodevelopmental delays and executive dysfunction or that In school-­age children it is crucial to establish consistent cognitive
may develop over time, including anxiety, depression, and substance and behavioral routines that foster and maximize independent, goal-­
use disorder. oriented problem solving and performance through mechanisms that
include modification of the child’s environment, modeling and guid-
Bypass Strategies (Accommodations) ance with the child, and positive reinforcement strategies. Interven-
Numerous techniques can enable a child to circumvent neurodevelop- tions should promote generalization (teaching executive routines in
mental dysfunctions. Such strategies are typically used in the regular the context of a problem, not as a separate skill) and should move from
classroom and can be incorporated into a 504 Plan or IEP. Accommo- the external to the internal (from “external support” with active and
dations change how the child learns, allowing them to access material directive modeling to an “internal process”). An intervention could
and meet the same expectations as their peers. Examples of accommo- proceed from external modeling of multistep problem-­solving rou-
dations include using large print for those with visual impairment and tines and external guidance in developing and implementing everyday
using a frequency modulation (FM) system for students with hearing routines, to practicing application and use of routines in everyday situ-
impairment. For children with learning disorders, accommodations ations, to a gradual fading of external support and cueing of internal
may include using a calculator while solving mathematical problems, generation and use of executive skills. Such approaches should make
writing essays with a word processor and use of spellcheck, or present- the child a part of intervention planning, should avoid labeling, reward
ing oral instead of written reports. Children with executive dysfunction effort not outcomes, make interventions positive, and hold the child
might benefit from being seated near the teacher to minimize distrac- responsible for his or her efforts. Studies have consistently shown that
tions and taking tests untimed. These bypass strategies do not cure a combination of medication and behavioral treatments are most
neurodevelopmental dysfunctions, but they minimize their academic effective, although evidence for long-­term efficacy is lacking. It is
and nonacademic effects and can provide a scaffold for more successful important that any treatment plans aimed at bolstering attention and
academic achievement. EF also include interventions that address the specific deficits associ-
ated with any comorbid diagnoses.
Curriculum Modifications In addition to behavioral approaches, cognitive training, both com-
Many children with neurodevelopmental dysfunctions require altera- puterized and noncomputerized, has been shown to strengthen the
tions in the school curriculum to succeed, especially as they progress cognitive skills on which one is trained. Some computerized training

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308 Part IV u Learning and Developmental Disorders

programs show lasting improvements in WM skills in children, though When academic difficulties are complicated by family problems or
benefits are narrow and limited only to the aspects of WM specifi- identifiable psychiatric disorders, psychotherapy may be indicated.
cally trained. Recently, game-­based digital therapy has been shown to Mental health professionals may offer long-­term or short-­term ther-
improve attention in children with ADHD-­inattentive type and com- apy. Such intervention may involve the child alone or the entire fam-
bined type. Noncomputerized cognitive training has shown greater ily. Cognitive-­behavioral therapy is especially effective for mood and
improvements in EF than any type of computerized cognitive training. anxiety disorders. It is essential that the therapist have a firm under-
This may be the result of instructor-­trainee interaction. Also evidenc- standing of the nature of a child’s neurodevelopmental dysfunctions.
ing positive outcomes are curriculum-­based classroom programs, Formal parenting interventions have also demonstrated strong evi-
such as the Tools of the Mind (Tools) and Promoting Alternative Think- dence for effectiveness. Four programs that have the most empirical
ing Strategies (PATHS), which have been shown to improve IC. support are the Triple P, Parent-­Child Interaction Therapy (PCIT),
Emerging evidence suggests physical activity can improve EF. Chil- Incredible Years, and New Forest Parenting Programme.
dren who are more physically active and have better aerobic fitness Table 49.3 outlines interventions to target the specific components
have been shown to have better EF than children who are sedentary. of EF. Although interventions may target each component separately,
Although plain aerobic exercise (e.g., walking, running) has not been success will be determined by how well treatments can be integrated
found to improve EF, encouraging findings have been noted when an across settings and generalized to other areas of function. Whenever
activity involves aerobic exercise and is also cognitively demanding. possible, working with more than one EF simultaneously is encour-
Basketball and dance, for example, are high in physical exertion while aged as a means of scaffolding intervention and building on previously
also requiring cognitive engagement through motor coordination mastered skills.
and planning. In contrast, resistance training has not been shown to
improve EF. Medication
Approaches that use mindfulness techniques are also gaining prom- Psychopharmacologic agents may be helpful in lessening the toll of
inence. Mindfulness practices incorporating movement (e.g., tai chi) some neurodevelopmental dysfunctions. Most often, stimulants are
improve EF better than those performed in a seated position. Martial used in the treatment of children with attention deficits. Although
arts such as taekwondo, which stresses discipline and self-­regulation, most children with attention deficits have other associated dysfunc-
have demonstrated improvements that generalize in many aspects of tions, such as language disorders, memory problems, motor weak-
EFs and attention (e.g., sustained focus). nesses, or social skill deficits, medications such as methylphenidate,
dextroamphetamine, lisdexamfetamine, and mixed amphetamine salts,
COUNSELING AND PARENT TRAINING PROGRAMS as well as nonstimulants such as α2-­adrenergic agonists and atomox-
The pediatrician is often in a close, trusting relationship with fami- etine, can be important adjuncts to treatment by helping some children
lies and is well-­positioned to identify adverse home factors that may focus more selectively and control their impulsivity. When depression
require additional supports, including counseling and parent training. or excessive anxiety is a significant component of the clinical picture,

Table 49.3  Executive Function Categories: Presenting Symptoms, Suggested Dysfunction, and Potential Interventions
SYMPTOM/PRESENTING SUSPECTED AREA
COMPLAINT OF DYSFUNCTION POSSIBLE “REAL-­WORLD” INTERVENTIONS
Acts before thinking Inhibitory control Increase structure in environment to set limits for inhibition problems.
Interrupts Make behavior and work expectations clear and explicit; review with child.
Poor behavioral and/or Post rules in view; point to them when child breaks rule.
emotional control Teach response-­delay techniques (e.g., counting to 10 before acting).
Cannot follow multistep Working memory Repeat instructions as needed.
instructions Keep instructions clear and concise.
Forgetful Provide concrete references.
Struggles starting assignments/ Initiation Increase structure of tasks.
tasks Establish and rely on routine.
Lacks initiative/motivation Break tasks into smaller, manageable steps.
Has trouble developing ideas/ Place child with partner or group for modeling and cueing from peers.
strategies
Does not plan ahead Planning Practice with tasks with only a few steps first.
Uses trial-­and-­error approach Teach simple flow charting as a planning tool.
Practice with planning tasks (e.g., mazes).
Ask child to verbalize plan before beginning work.
Ask child to verbalize second plan if first does not work.
Ask child to verbalize possible consequences of actions before beginning.
Review incidents of poor planning/anticipation with child.
Work/belongings is/are “messy” Organization Increase organization of classroom and activities to serve as model, and help child
Random/haphazard problem grasp structure of new information.
solving Present framework of new information to be learned at the outset, and review again
Procrastinates/does not at the end of a lesson.
complete tasks Begin with tasks with only a few steps and increase gradually.
Gets “stuck” Flexibility/shifting Increase routine to the day.
Trouble transitioning Make schedule clear and public.
Does not adapt to change Forewarn of any changes in schedule.
Give “2-­minute warning” of time to change.
Make changes from one task to the next or one topic to the next, clear and explicit.
Shifting may be a problem of inhibiting, so apply strategies for inhibition problems.

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 Chapter 50 u Attention-­Deficit/­Hyperactivity Disorder 309

antidepressants or anxiolytics may be helpful. Other medications EPIDEMIOLOGY

may improve behavioral control (see Chapter 33). Children receiving Studies of the prevalence of ADHD worldwide have generally reported
medication need regular follow-­up visits that include a history to check that 5–10% of school-­age children are affected, although rates vary
for side effects, a review of current behavioral checklists, a complete considerably by country, perhaps in part because of differing sampling
physical examination, and appropriate modifications of the medica- and testing techniques and a varying symptom threshold for diagnosis.
tion dose. Periodic trials off medication are recommended to establish ADHD is more common in males than in females (male to female ratio
whether the medication is still necessary. 4:1 for the predominantly hyperactive-­impulsive presentation and 2:1
for the predominantly inattentive presentation). Many children with
Nonstandard Therapies ADHD will have coexisting diagnoses, including learning disabilities,
Pediatricians should be aware of nonstandard therapies that purport to mood disorders, and/or language disorders. Children with high intel-
treat neurodevelopmental and executive dysfunction or components lectual quotient (IQ) are just as likely to have ADHD as those with
therein. A variety of treatment methods for neurodevelopmental dys- average IQ, but children with below-­average IQ have increased risk of
functions have been proposed that currently have little to no known having coexisting ADHD.
scientific evidence of efficacy. This list includes dietary interventions
(vitamins, elimination of food additives or potential allergens), neuro- ETIOLOGY
motor programs or medications to address vestibular dysfunction, eye There is no single etiology identified for ADHD; many factors play
exercises, filters, tinted lenses, and various technologic devices. Parents a role in its development. A genetic contribution to the etiology of
should be cautioned against expending the excessive amounts of time ADHD is well established. Twin studies show 70–80% heritability, and
and financial resources usually demanded by these remedies. In many there is a 5-­to 10-­fold increased risk for ADHD among first-­degree
cases, it is difficult to distinguish the nonspecific beneficial effects of relatives of those with ADHD. However, there are many ways in which
increased support and attention paid to the child from the purported genetic variants contribute to ADHD; it is thought that ADHD is a
target effects of the interventions. polygenic disorder in which multiple common genetic variants act
together to increase the risk for ADHD.
Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography. Structural and functional abnormalities of the brain have been iden-
tified in children with ADHD. These include dysregulation of the fron-
tal subcortical circuits; small cortical volumes in this region or more
widespread throughout the brain; and abnormalities of the cerebellum,
particularly midline/vermian elements. There is a median of a 3-­year
delay in attainment of peak cortical thickness in prefrontal regions
of the brain in those with ADHD. Although neuroimaging stud-
ies have advanced knowledge related to ADHD, neuroimaging does
not typically have a role in the clinical diagnosis or inform ongoing
management.
Chapter 50 Brain catecholamine metabolism, specifically for dopamine and nor-
epinephrine, appears to play a role in the pathophysiology of ADHD.

Attention-­Deficit/­ Animal studies suggest that an imbalance between these systems

(specifically a decrease in inhibitory dopamine activity and increase
in norepinephrine activity) contributes to ADHD. These findings are
Hyperactivity Disorder supported by human studies showing that individuals with ADHD
have an increase in dopamine transporter density (which clears away
Elizabeth B. Harstad dopamine too quickly) compared to non-­ADHD controls. Addition-
ally, studies showing that stimulant medications work to treat ADHD
by increasing the amount of available dopamine and norepinephrine at
the synapse support a role for catecholamine metabolism in the etiol-
Attention-­deficit/hyperactivity disorder (ADHD) is one of the most ogy of ADHD.
common and extensively studied neurobehavioral disorders of child- Some environmental factors also may contribute to the patho-
hood and is among the most prevalent chronic health conditions genesis of ADHD. Prenatal exposure to tobacco smoke or alcohol is
affecting school-­age children. ADHD is characterized by inattention, associated with increased risk for ADHD. Prematurity, including even
including increased distractibility and difficulty sustaining attention; late-­preterm birth, is also associated with increased risk for ADHD.
poor impulse control and decreased self-­inhibitory capacity; and Maternal mental illness increases the risk for ADHD in offspring, and
motor overactivity and restlessness (Table 50.1, Fig. 50.1). Defini- research indicates underlying maternal mental illness itself, rather
tions vary in different countries. In the International Classification than treatment of the mental illness, is the associated risk factor. Diet
of Diseases (ICD) 2022 update from ICD-­10 to ICD-­11, hyperkinetic is not thought to play a role in the pathogenesis of ADHD for most
disorder was replaced with ADHD, which aligns with Diagnostic and children with the condition. A small subset of children with ADHD
Statistical Manual of Mental Disorders, Fifth Edition (DSM-­5) termi- may be uniquely sensitive to certain foods, sugars, or additives, but this
nology. Under ICD-­11, the essential features of ADHD are described, remains controversial, as studies reporting these findings are typically
but without giving age of onset, duration, or minimum number of small and often not rigorously designed.
symptoms needed for the diagnosis as specified in DSM-­5 (Table
50.2). Children with ADHD may experience academic underachieve- CLINICAL MANIFESTATIONS
ment, problems with interpersonal relationships with family mem- Development of the DSM-­5 criteria for ADHD has occurred mainly in
bers and peers, and low self-­esteem. ADHD often coexists with other field trials with children 5-­12 years of age (see Table 50.1). The DSM-­5
emotional, behavioral, language, and learning disorders. Evidence criteria state that the inattentive or hyperactive-­ impulsive behav-
also suggests that for many people, the disorder continues, with vary- iors must be developmentally inappropriate (substantially different
ing manifestations across the life cycle, leading to significant under- from that of other children of the same age and developmental level),
employment and unemployment, social dysfunction, and increased must begin before age 12 years, must be present for at least 6 months,
risk of antisocial behaviors (e.g., substance abuse), difficulty main- must be present in two or more settings, and must not be secondary
taining relationships, encounters with the law, and death from suicide to another disorder. To meet criteria for ADHD, the symptoms must
or accidents (Figs. 50.2 and 50.3). interfere with social, academic, or occupational functioning.

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 Chapter 50 u Attention-­Deficit/­Hyperactivity Disorder 309

antidepressants or anxiolytics may be helpful. Other medications EPIDEMIOLOGY

may improve behavioral control (see Chapter 33). Children receiving Studies of the prevalence of ADHD worldwide have generally reported
medication need regular follow-­up visits that include a history to check that 5–10% of school-­age children are affected, although rates vary
for side effects, a review of current behavioral checklists, a complete considerably by country, perhaps in part because of differing sampling
physical examination, and appropriate modifications of the medica- and testing techniques and a varying symptom threshold for diagnosis.
tion dose. Periodic trials off medication are recommended to establish ADHD is more common in males than in females (male to female ratio
whether the medication is still necessary. 4:1 for the predominantly hyperactive-­impulsive presentation and 2:1
for the predominantly inattentive presentation). Many children with
Nonstandard Therapies ADHD will have coexisting diagnoses, including learning disabilities,
Pediatricians should be aware of nonstandard therapies that purport to mood disorders, and/or language disorders. Children with high intel-
treat neurodevelopmental and executive dysfunction or components lectual quotient (IQ) are just as likely to have ADHD as those with
therein. A variety of treatment methods for neurodevelopmental dys- average IQ, but children with below-­average IQ have increased risk of
functions have been proposed that currently have little to no known having coexisting ADHD.
scientific evidence of efficacy. This list includes dietary interventions
(vitamins, elimination of food additives or potential allergens), neuro- ETIOLOGY
motor programs or medications to address vestibular dysfunction, eye There is no single etiology identified for ADHD; many factors play
exercises, filters, tinted lenses, and various technologic devices. Parents a role in its development. A genetic contribution to the etiology of
should be cautioned against expending the excessive amounts of time ADHD is well established. Twin studies show 70–80% heritability, and
and financial resources usually demanded by these remedies. In many there is a 5-­to 10-­fold increased risk for ADHD among first-­degree
cases, it is difficult to distinguish the nonspecific beneficial effects of relatives of those with ADHD. However, there are many ways in which
increased support and attention paid to the child from the purported genetic variants contribute to ADHD; it is thought that ADHD is a
target effects of the interventions. polygenic disorder in which multiple common genetic variants act
together to increase the risk for ADHD.
Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography. Structural and functional abnormalities of the brain have been iden-
tified in children with ADHD. These include dysregulation of the fron-
tal subcortical circuits; small cortical volumes in this region or more
widespread throughout the brain; and abnormalities of the cerebellum,
particularly midline/vermian elements. There is a median of a 3-­year
delay in attainment of peak cortical thickness in prefrontal regions
of the brain in those with ADHD. Although neuroimaging stud-
ies have advanced knowledge related to ADHD, neuroimaging does
not typically have a role in the clinical diagnosis or inform ongoing
management.
Chapter 50 Brain catecholamine metabolism, specifically for dopamine and nor-
epinephrine, appears to play a role in the pathophysiology of ADHD.

Attention-­Deficit/­ Animal studies suggest that an imbalance between these systems

(specifically a decrease in inhibitory dopamine activity and increase
in norepinephrine activity) contributes to ADHD. These findings are
Hyperactivity Disorder supported by human studies showing that individuals with ADHD
have an increase in dopamine transporter density (which clears away
Elizabeth B. Harstad dopamine too quickly) compared to non-­ADHD controls. Addition-
ally, studies showing that stimulant medications work to treat ADHD
by increasing the amount of available dopamine and norepinephrine at
the synapse support a role for catecholamine metabolism in the etiol-
Attention-­deficit/hyperactivity disorder (ADHD) is one of the most ogy of ADHD.
common and extensively studied neurobehavioral disorders of child- Some environmental factors also may contribute to the patho-
hood and is among the most prevalent chronic health conditions genesis of ADHD. Prenatal exposure to tobacco smoke or alcohol is
affecting school-­age children. ADHD is characterized by inattention, associated with increased risk for ADHD. Prematurity, including even
including increased distractibility and difficulty sustaining attention; late-­preterm birth, is also associated with increased risk for ADHD.
poor impulse control and decreased self-­inhibitory capacity; and Maternal mental illness increases the risk for ADHD in offspring, and
motor overactivity and restlessness (Table 50.1, Fig. 50.1). Defini- research indicates underlying maternal mental illness itself, rather
tions vary in different countries. In the International Classification than treatment of the mental illness, is the associated risk factor. Diet
of Diseases (ICD) 2022 update from ICD-­10 to ICD-­11, hyperkinetic is not thought to play a role in the pathogenesis of ADHD for most
disorder was replaced with ADHD, which aligns with Diagnostic and children with the condition. A small subset of children with ADHD
Statistical Manual of Mental Disorders, Fifth Edition (DSM-­5) termi- may be uniquely sensitive to certain foods, sugars, or additives, but this
nology. Under ICD-­11, the essential features of ADHD are described, remains controversial, as studies reporting these findings are typically
but without giving age of onset, duration, or minimum number of small and often not rigorously designed.
symptoms needed for the diagnosis as specified in DSM-­5 (Table
50.2). Children with ADHD may experience academic underachieve- CLINICAL MANIFESTATIONS
ment, problems with interpersonal relationships with family mem- Development of the DSM-­5 criteria for ADHD has occurred mainly in
bers and peers, and low self-­esteem. ADHD often coexists with other field trials with children 5-­12 years of age (see Table 50.1). The DSM-­5
emotional, behavioral, language, and learning disorders. Evidence criteria state that the inattentive or hyperactive-­ impulsive behav-
also suggests that for many people, the disorder continues, with vary- iors must be developmentally inappropriate (substantially different
ing manifestations across the life cycle, leading to significant under- from that of other children of the same age and developmental level),
employment and unemployment, social dysfunction, and increased must begin before age 12 years, must be present for at least 6 months,
risk of antisocial behaviors (e.g., substance abuse), difficulty main- must be present in two or more settings, and must not be secondary
taining relationships, encounters with the law, and death from suicide to another disorder. To meet criteria for ADHD, the symptoms must
or accidents (Figs. 50.2 and 50.3). interfere with social, academic, or occupational functioning.

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310 Part IV u Learning and Developmental Disorders

Table 50.1  DSM-­5 Diagnostic Criteria for ADHD

A. A persistent pattern of inattention and/or hyperactivity/impulsivity f. Often talks excessively. Impulsivity.
that interferes with functioning or development, as characterized g. Often blurts out answers before questions have been
by (1) and/or (2): completed.
1. 
Inattention: Six (or more) of the following symptoms of h. Often has difficulty awaiting turn.
inattention have persisted for ≥6 mo to a degree that is i. Often interrupts or intrudes on others (e.g., butts into
inconsistent with development level and that negatively affects conversations or games).
directly on social and academic/occupational activities: B. Several inattentive or hyperactive/impulsive symptoms were
a. Often fails to give close attention to details or makes present before 12 yr of age.
careless mistakes in schoolwork, at work, or during C. Several inattentive or hyperactive/impulsive symptoms are
other activities (e.g., overlooks or misses details, work is present in two or more settings (e.g., at school [or work] or at
inaccurate). home) and are documented independently.
b. Often has difficulty sustaining attention in tasks or play D. There is clear evidence of clinically significant impairment in
activities. social, academic, or occupational functioning.
c. Often does not seem to listen when spoken to directly. E. Symptoms do not occur exclusively during the course of
d. Often does not follow through on instructions and fails to schizophrenia, or another psychotic disorder, and are not better
finish schoolwork, chores, or duties in the workplace (not accounted for by another mental disorder (e.g., mood disorder,
the result of oppositional behavior or failure to understand anxiety disorder, dissociative disorder, personality disorder,
instructions). substance intoxication or withdrawal).
e. Often has difficulty organizing tasks and activities.
f. Often avoids, dislikes, or is reluctant to engage in tasks CODE BASED ON TYPE
that require sustained mental effort (e.g., schoolwork, 314.01 Attention-­deficit/hyperactivity disorder, combined presentation:
homework). if both Criteria A1 and A2 are met for the past 6 mo.
g. Often loses things necessary for tasks or activities (e.g., 314.00 Attention-­deficit/hyperactivity disorder, predominantly
toys, school assignments, pencils, books, tools). inattentive presentation: if Criterion A1 is met but Criterion A2 is
h. Is often easily distracted by extraneous stimuli. not met for the past 6 mo.
i. Is often forgetful in daily activities. 314.01 Attention-­deficit/hyperactivity disorder, predominantly
2. 
Hyperactivity/impulsivity: Six (or more) of the following hyperactive-­impulsive presentation: if Criterion A2 is met but
symptoms of inattention have persisted for ≥6 mo to a degree Criterion A1 is not met for the past 6 mo.
that is inconsistent with development level and that negatively Specify if:
affects directly on social and academic/occupational activities.
Mild: Few, if any, symptoms in excess of those required to make the
a. Often fidgets with hands or feet or squirms in seat.
diagnosis are present, and if the symptoms result in no more than
b. Often leaves seat in classroom or in other situations in
minor impairments in social and occupational functioning.
which remaining seated is expected.
c. Often runs about or climbs excessively in situations in which Moderate: Symptoms or functional impairment between “mild” and
it is inappropriate (in adolescents or adults, may be limited “severe” are present.
to subjective feelings of restlessness). Severe: Many symptoms in excess of those required to make the
d. Often has difficulty playing or engaging in leisure activities diagnosis, or several symptoms that are particularly severe, are
quietly. present, or the symptoms result in marked impairment in social or
e. Is often “on the go” or often acts as if “driven by a motor.” occupational functioning.

From American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 4th ed, Text Revision, Washington, DC: American Psychiatric Association; 2000, and
Fifth Edition (Copyright 2013 American Psychiatric Association.)

Poor concentration Hyperactivity Impulsivity

Difficulties with Struggle to Constantly Less aware Strained family and

school work be organized on the go of danger peer relationships

Questions to ask

Is school attainment Do they: Do they: Do they: Difficulty maintaining

below what is peer relationships?
expected? Lose things? Run about excessively? Need high levels of
adult supervision? Strained parent-child
Do instructions often Forget what they Struggle to sit still relationships?
need to be repeated? were doing? during a favorite Have little road safety
movie or meal, or in awareness? Are they bullied or
Struggle to get ready the classroom? do they bully others?
for school? Experience many trivial
unintentional incidents? Easily led and
Struggle to complete influenced to engage
tasks? in thoughtless acts,
occasionally leading
to police involvement?

Fig. 50.1 How to assess children for attention-­deficit/hyperactivity disorder. (From Verkuijl N, Perkins M, Fazel M. Childhood attention-­deficit/
hyperactivity disorder. BMJ. 2015;350:h2168, Fig. 2, p. 146.)

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 Chapter 50 u Attention-­Deficit/­Hyperactivity Disorder 311

Table 50.2  Differences Between U.S. and European Criteria for ADHD or HKD
DSM-­5 ADHD ICD-­10 HKD ICD-­11 ADHD*
SYMPTOMS
Either or both of the following: All of the following: No minimum numbers of symptoms but must have:
• A t least 6 of 9 inattentive symptoms • A t least 6 of 8 inattentive symptoms • P
 ersistent pattern (≥6 mo) of inattention and/or
• At least 6 of 9 hyperactive or • At least 3 of 5 hyperactive symptoms hyperactivity-­impulsivity that has a direct negative impact
impulsive symptoms • At least 1 of 4 impulsive symptoms on academic, occupational, or social functioning
PERVASIVENESS
Some impairment from symptoms is Criteria are met for one or more settings Symptoms must be evident across multiple situations
present in one or more settings or settings but are likely to vary according to the
structure and demands of the setting
*ICD-­11 went into effect on January 1, 2022.
ADHD, Attention-­deficit/hyperactivity disorder; HKD, hyperkinetic disorder; DSM-­5, Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition; ICD-­10, International
Classification of Diseases, Tenth Edition.
Modified from Biederman J, Faraone S. Attention-­deficit hyperactivity disorder. Lancet. 2005;366:237–248.

Adulthood
Mood
College age instability
Academic Low self-esteem
Adolescence failure
Relationship
Not fulfilling Not coping
School age problems
academic with routine
potential tasks
Behavioral Increased
Preschool disturbance, road and
Reduced tolerance Occupational
including aggressive occupational
Behavioral by peers difficulties
tendencies incidents
disturbance
Low self-esteem Low self-esteem
Academic Difficulty planning and
Unintentional impairment completing tasks
injuries Smoking/alcohol/ Alcohol and
drug experimentation substance misuse
Difficulties in social Alcohol and
Feelings of parental interaction often substance misuse
incompetence Antisocial behavior Injuries/
tolerated by peers
unintentional Inconsistent parenting
incidents style

Fig. 50.2 Possible developmental impacts of attention-­deficit/hyperactivity disorder. (From Verkuijl N, Perkins M, Fazel M. Childhood attention-­
deficit/hyperactivity disorder. BMJ. 2015;350:h2168, Fig. 1, p. 145.)

DSM-­5 identifies three presentations of ADHD: the inattentive pre- clinical interview to rule in ADHD or to identify other causes or
sentation, hyperactive-­impulsive presentation, and combined presen- contributing factors, completion of behavior rating scales by differ-
tation. Clinical manifestations of ADHD may change with age; thus the ent observers from at least two settings (e.g., teacher and parent),
specific ADHD presentation for an individual may not be stable over and a physical examination. It is important to systematically gather
time but describes current symptomatology (see Fig. 50.2). The symp- and evaluate information from a variety of sources, including the
toms may vary from motor restlessness and aggressive and disruptive child, parents, teachers, and, when appropriate, other caretakers or
behavior, which are common in preschool children, to disorganized, professionals involved in the child’s care.
distractible, and inattentive symptoms, which are more typical in older The evaluation for ADHD may require several office visits. A thor-
adolescents and adults. Although hyperactivity generally decreases in ough assessment should be conducted at the time of initial diagnosis,
late childhood and adolescence, symptoms of impulsivity and inatten- and reevaluation should occur if there are worsening or new symp-
tion often persist. Females with ADHD are relatively more likely than toms, given the common occurrence of coexisting conditions.
males to be diagnosed with the inattentive presentation, and this pre-
sentation is more commonly associated with internalizing symptoms Clinical Interview and History
(anxiety and low mood). The clinical interview allows a comprehensive understanding of
whether the symptoms meet the diagnostic criteria for ADHD and to
DIAGNOSIS assess for coexisting conditions. The interview should collect infor-
An evaluation for ADHD should be initiated in any child ≥4 years mation about the history and duration of presenting problems, the
of age with symptoms of inattention, hyperactivity, and/or impul- child’s attainment of developmental milestones, school performance,
sivity (Fig. 50.4). This evaluation includes a careful history and social skills, mood, sleep, medical illnesses, sensory impairments, or

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312 Part IV u Learning and Developmental Disorders

medication use that might affect the child’s functioning. Disruptive

Violence social factors, such as family discord, situational stress, and abuse or
Antisocial disorders neglect, can result in hyperactive or anxious behaviors. A family his-
Crime tory of first-­degree relatives with ADHD, mood or anxiety disorders,
learning disability, antisocial disorder, or alcohol or substance abuse
might indicate an increased risk of ADHD and coexisting conditions.
Accidents
Behavior Rating Scales
Substance use Behavior rating scales can help to elicit information about ADHD
Fighting
symptoms across contexts (i.e., home and school). The Vanderbilt
ADHD Rating Scale (which has parent and teacher versions) is a
ADHD commonly used screening measure for ADHD in primary care. It
has specific questions about inattention and hyperactivity/impul-
Accidents sivity that correspond directly with the DSM-­5 ADHD diagnostic
Inattention and Impulsivity criteria and questions about overall performance to assess for func-
Poor health habits
tional impairment, as well as subscales for some common coexisting
conditions (anxiety/depression and oppositional behaviors/conduct
disorder). Additional ADHD-­specific rating scales include the Con-
ners 3 ADHD Index and ADHD Rating Scale 5, among others that can
Health risks be used. Broadband rating scales (such as Achenbach Child Behavior
Risky behaviors Checklist [CBCL] or Behavioral Assessment Scale for Children [BASC]
Accidents
or Conners 3 Full Length Forms) can be useful in assessing for coex-
isting conditions. Electronic capture of rating scale information is
increasingly available and may facilitate completion and scoring. Rat-
Mood disorders Suicide ing scales provide information about the type, frequency, and severity
of ADHD or other behavioral/mood symptoms, but interpretation
Fig. 50.3 Pathways to premature death in persons with attention-­ requires clinical judgement. Contextual factors (such as triggers for a
deficit/hyperactivity disorder (ADHD). (From Faraone SV. Attention defi- certain behavior, responses to a behavior that may inadvertently rein-
cit hyperactivity disorder and premature death. Lancet. 2015;385:2132– force it) should be considered when interpreting rating scales. When
2133.) there are discrepancies between results of rating scales for parents
and teachers, the context and level of support provided in each setting
should be assessed. ADHD rating scales can help with both the initial
diagnostic assessment and with monitoring treatment response over
time. Although there is no universal standard to use as a criterion
Obtain detailed clinical history from parents or carers and young
person
for a positive response to treatment in terms of rating scale results,
a decrease in ADHD symptom scores by 25% or more is generally
considered significant improvement. However, improvement in func-
Carry out core ADHD symptom enquiry: are symptoms out of tional outcomes may be more important to consider than changes in
keeping with child's age and developmental stage? symptom scores. For children on medication, it is important to con-
sider if the medication was “active” when the child was observed (i.e.,
Obtain information across settings; consider questionnaires as an stimulant medication may work to reduce ADHD symptoms during
adjunct the school day, but the symptoms may return as the medication wears
off in the afternoon/evening when the child is home).
Screen for associated difficulties (eg, mental health symptoms, Physical Examination, Laboratory, and Other
other neurodevelopmental or learning problems)
Assessments
Most children with ADHD will have a normal physical exam, but one
• Developmental history (eg, motor delay) should be conducted as part of the diagnostic evaluation. Particular
• Medical history (eg, epilepsy) attention should be paid to cardiac and neurologic evaluations, thy-
• Family history (eg, mental health, educational history, physical roid, hearing and vision, and assessment for dysmorphic features that
health problems)
• Medical histories especially important in relation to cardiac or other
may signify an underlying condition, such as fetal alcohol syndrome.
risk factors if pharmacological treatment is being considered A child’s behavior in the clinic visit may not represent the child’s usual
behaviors, as some children may be able to remain focused or calm
for brief periods and others may exhibit more impulsivity or high
Consider severity of symptoms, effects on functioning, comorbid activity level when nervous in the context of a clinic visit. Laboratory
symptoms, medical history, and the family’s and child's strengths, tests and brain imaging are not routinely recommended as part of an
resources, demands, and psychosocial context when deciding on
treatment options ADHD assessment. The presence of hypertension, ataxia, or asym-
metric neurologic examination or symptoms of a sleep, seizure, or thy-
roid disorder may prompt further diagnostic tests. Lead levels could
Physical assessment: be considered if there are other factors associated with risk for lead
• Signs of other disorders (eg, dysmorphic features, skin lesions) and toxicity. The clinician should identify possible vision or hearing prob-
motor coordination (eg, handwriting, balance); to be undertaken
more completely if considering pharmacological treatment
lems. Computerized attentional tasks and quantitative electroencepha-
• Baseline height, weight, blood pressure, pulse lographic assessments are not needed to make the diagnosis. They are
subject to high rates of false-­positive and false-­negative results and thus
Fig. 50.4 Summary of the clinical assessment process for ADHD. are of limited utility in the diagnostic assessment.
ADHD, Attention-­ deficit/hyperactivity disorder. (From Thapar Educational testing should be considered if there are concerns
A, Cooper M. Attention deficit hyperactivity disorder. Lancet.
about academic progress, as specific learning disabilities in reading,
2016;387[10024]:1240–1250, Fig. 2.)

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 Chapter 50 u Attention-­Deficit/­Hyperactivity Disorder 313

mathematics, or written expression often coexist with ADHD (see behavioral and emotional symptoms that can resemble or exacerbate
Chapters 51 and 52). If there has been slow attainment of develop- ADHD (see Chapter 31). Periodic leg movements of sleep/restless legs
mental milestones, intelligence or developmental testing should be syndrome have been associated with symptoms of inattention, and
conducted. If there are concerns about a child’s social communica- inquiry regarding this should be made during the history. Behavioral
tion skills combined with restricted, repetitive behaviors or interests, and emotional disorders can cause disrupted sleep patterns as well.
a clinical assessment for autism spectrum disorder may be indicated Mental health disorders: Depression and anxiety disorders can
(see Chapter 58). cause many of the same symptoms as ADHD (inattention, restlessness,
inability to focus and concentrate on work, poor organization, forget-
Differential Diagnosis and Coexisting Conditions fulness) but can also coexist with ADHD (see Chapters 38 and 39).
Given that the symptoms of ADHD can overlap with other conditions, Obsessive-­compulsive disorder can mimic ADHD, particularly when
a broad differential diagnosis should be considered. For ease of pre- recurrent and persistent thoughts, impulses, or images are intrusive,
sentation, the differential diagnosis for ADHD can be grouped into interfering with normal daily activities. Adjustment disorders second-
specific categories of developmental, psychiatric, medical, and psy- ary to major life stresses (death of a close family member, parents’
chosocial (Table 50.3). Children at either end of the developmental/ divorce, family violence, parents’ substance abuse, or a move) or par-
cognitive level (i.e., with significant cognitive delays or with superior ent–child relationship disorders involving conflicts over discipline,
intelligence) can appear inattentive and/or distracted and sometimes overt child abuse and/or neglect, or overprotection can result in symp-
also disruptive if the material in school or expectations at home are not toms similar to those of ADHD.
appropriate for their developmental level. In differentiating impulsivity When considering a new diagnosis in an adolescent patient, there
and challenging behaviors associated with ADHD versus an external- should be an opportunity to interview the adolescent privately, and
izing disorder (oppositional defiant disorder [ODD] or conduct disor- the adolescent should be specifically asked about mood symptoms and
der), consider whether the child “acts without thinking” and/or is more psychosocial stressors; frequent digital media use; and screened for use
reactive (easily upset over demands for sustained attention or other of alcohol, marijuana, and illicit substances.
small triggers), which would be more consistent with ADHD, versus
proactively looks to aggress, fight, and challenge authority, which may TREATMENT
be indicative of an externalizing disorder. Tic disorders can both pres- Overall Treatment Approach
ent with some symptoms similar to ADHD (e.g., fidgeting, squirming, ADHD is considered a chronic condition and should be managed as
making sounds that seem impulsive) and also commonly coexist with such, with education about ADHD at the time of diagnosis and regular
ADHD. For cases in which ADHD symptoms are reported in one set- follow-­up visits to monitor and treat symptoms. Parent support groups
ting but not another, psychosocial causes should be considered, such with appropriate professional consultation to such groups can be
as unrealistic classroom expectations, distress at home, or untoward very helpful. Treatment of ADHD should be multimodal and involve
parenting strategies. However, clinicians should be aware that inappro- behavioral therapy, school-­based supports, and/or medications. The
priate parenting strategies may be the result of the child’s ADHD, as treatment plan should be developed in collaboration with the child (if
parents try anything (often unsuccessfully) to help their child. These developmentally appropriate) and family. The recommended initial
parents are in need of parenting and behavioral supports, without feel- treatments for ADHD vary by age.
ing blamed for their child’s symptoms. Preschool-­age children: For children up until 6 years of age, the
Sleep disorders, including those secondary to chronic upper air- recommended first-­line treatment is evidence-­based parent-­and/or
way obstruction from enlarged tonsils and adenoids, often result in teacher-­administered behavior therapy. If behavior interventions do
not provide significant improvements and there is moderate to severe
impairment in the child’s functioning as a result of ADHD symptoms,
Table 50.3  Differential Diagnosis of Attention-­Deficit/ medication should be considered. If behavioral interventions are not
Hyperactivity Disorder (ADHD) available, the risks of medication should be compared with risks of not
GENERAL treating ADHD symptoms.
CATEGORY SPECIFIC CONDITIONS, CAUSES School-­age children and adolescents: For children ages 6 years old
and older, ADHD medications should be considered first-­line treat-
Developmental Low developmental level/cognitive abilities
Very high cognitive abilities
ment, along with behavior and educational interventions. Organiza-
Specific learning disabilities in reading, tional skills training, coaching, or cognitive-­behavioral therapy may be
mathematics, or written expression helpful for adolescents and adults.
Communication or language disorder
Autism spectrum disorder
Fetal alcohol syndrome Behaviorally Oriented Treatments
Psychiatric Anxiety/depression Behavioral interventions should be an integral part of the treatment plan
Oppositional defiant disorder/conduct disorder for all children with ADHD. Behavioral interventions involve modify-
Bipolar disorder/disruptive mood dysregulation ing the environment and empowering caregivers with strategies to pro-
disorder mote positive behaviors and minimize negative behaviors. Behavioral
Substance use disorder strategies typically focus on promoting a limited number of well-­defined
Posttraumatic stress disorder/adjustment disorder appropriate behaviors, using positive reinforcement with increased adult
Medical Sleep disorder, obstructive sleep apnea attention, tangible rewards, or access to privileges. A token economy in
Hearing or vision impairment which a child earns (or loses) tokens that can be exchanged for rewards
Specific medications, such as some antiepileptics
or high-­dose steroids
may be used. Any rules should be clearly defined and consistently
Thyroid disorders enforced. Behavioral parent training, also known as parent training in
Tic disorders behavioral management, is a well-­established combination of behavioral
Posttraumatic head injury or encephalitis interventions shown to reduce problematic behaviors and improve adap-
Genetic conditions, such as fragile X, Klinefelter tive skills for children with ADHD. It involves teaching parents how to
syndrome, Turner syndrome, tuberous sclerosis, use behavior modification strategies to address specific behaviors, with
and neurofibromatosis a strong emphasis on positive reinforcement (described earlier) while
Psychosocial Response to abuse, neglect ignoring or, if necessary, systematically implementing appropriate con-
Response to distress in home, inappropriate sequences for maladaptive behaviors. Treatments geared toward behav-
expectations or parenting practices ioral management for ADHD often occur in the time frame of 8-­12
Response to inappropriate classroom setting
sessions but may sometimes require more sessions.

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314 Part IV u Learning and Developmental Disorders

Although there is much less research published on psychosocial inhibitors, and α2-­adrenergic agonists. Stimulants are the most
treatments for adolescents with ADHD, behavioral parent training commonly used medications to treat ADHD and have been used
can be modified to focus on improving communication between to treat this condition since the 1930s. Stimulant medications have
parents and adolescents with ADHD, developing a behavioral con- a slightly larger treatment effect size (standardized mean differ-
tract, and problem-­solving around challenging situations. For chil- ence) than nonstimulants (approximately 1.0 for stimulants versus
dren and adolescents with ADHD and coexisting anxiety disorders approximately 0.7 for both norepinephrine reuptake inhibitors and
and/or depression, cognitive-­behavioral therapy may help address α2-­adrenergic agonists). Although stimulants are generally recom-
anxiety or low mood. mended as the first-­line ADHD medication, nonstimulant medi-
At least 60 minutes of moderate to vigorous exercise is recom- cations may be considered in the context of active substance use
mended for the general health of all children ≥6 years old, and some disorder for an adolescent with ADHD or household family member
studies indicate exercise may reduce ADHD symptoms in children; or if there is a strong family desire for a nonstimulant medication.
thus encouraging regular exercise is reasonable. Interventions includ- Stimulants have been found to have relatively high rates of adverse
ing cognitive training, electroencephalogram (EEG) biofeedback, and effects (particularly moodiness and irritability) in preschool-­age
diet modification do not have the level of evidence needed to recom- children and in children with intellectual disability or autism spec-
mend them for most children. trum disorder, leading some physicians to choose nonstimulant
medication in these situations, as described later.
Educational Supports and Accommodations When starting a stimulant, the clinician can select either a
Behavioral classroom management strategies can be used by teach- methylphenidate-­based or an amphetamine-­based medication. The
ers to implement strategies within the whole classroom that will decision about which stimulant medication to use for a specific child
help children with ADHD. These include clear expectations and or adolescent with ADHD is often based on factors such as dura-
consistency in follow-­ through, positive reinforcement for work tion of action (short, intermediate, long acting), preparation (pills,
completion and on-­task behaviors, and appropriate consequences capsules that can be swallowed whole or whose contents can be
when rules are not followed. Additionally, children with ADHD may “sprinkled” into food, chewable tablets, and liquids), and clinician
benefit from individualized educational supports and accommoda- preference or insurance company formularies. Stimulant medications
tions, such as preferential seating near the source of instruction and have a rapid onset of action (ranging from about 20 minutes to up to
away from distractions, motor breaks as needed, frequent teacher an hour, depending on the formulation), and most leave the system
check-­ins, being able to take tests in a less distracting environment, within 3-­12 hours, depending on if they are short, intermediate, or
and an individualized positive behavior plan. A daily report card or long acting. A child who responds poorly to one stimulant medica-
communication log can be used to facilitate regular communication tion may do well with a different medication in that class or the other
between the parents and teachers. A daily report card is individu- class (methylphenidate versus amphetamine). Stimulant medications
ally designed for each child to include target problem behaviors in should be initiated at the lowest available dose and titrated upward,
academic and/or social domains in the classroom (e.g., following assessing for both effectiveness and side effects, until reaching a dose
directions, turning in work, getting along with others). The teacher that reduces ADHD symptoms and has minimal to no side effects.
provides a rating for each behavior on the report card, which is sent Common side effects of stimulant medication include decreased
home daily, and the child is given home-­based rewards for meeting appetite, headaches, stomachaches, and difficulty falling asleep. If
goals set for the ratings from school. mood lability occurs, it should be noted whether this is while the
Children with ADHD often need explicit instruction in organi- stimulant medication is active (which may indicate that a different
zation and executive functioning skills and may not develop these medication should be tried instead) or as the medication is wearing
skills at the same pace as non-­ADHD peers. The use of an agenda off (also called rebound and may indicate that a short-­acting prep-
book to record assignments, color coding for different classes, and aration should be replaced by a longer-­acting preparation or a low
teacher check-­ins regularly to help with organization may be help- dose of a short-­acting preparation should be added about 30 minutes
ful for some children, and others may require a higher level of more before the onset of the rebound symptoms).
individualized instruction in the executive functioning domains Height, weight, pulse, and blood pressure should be periodically
of staying organized, planning, initiating tasks, shifting gears, and monitored. Stimulants may be associated with a slight reduction in
self-­monitoring. linear growth, although studies of the impact of stimulants on adult
Children with ADHD and coexisting learning disorders, commu- height range from findings of a slight impact to no significant differ-
nication or developmental delays, significant mental health or oppo- ence. Children with decreased appetite from stimulants and difficulty
sitional challenges, or autism spectrum disorder often need more with weight gain can be counseled to increase caloric intake later in
specialized educational supports than those that can be provided the day when the appetite returns. Significant reductions (i.e., crossing
through accommodations in a general classroom. In the United States, two lines on the growth curve) in either height or weight for a child
these children would qualify to have an individualized educational on stimulant medication may prompt changing to a different ADHD
plan (IEP) developed through the public school system. medication.
Before starting stimulants, children should be screened for symp-
Medications toms or signs suggestive of a cardiomyopathy, coronary artery disease,
Before medication initiation, a history and physical examination cardiac arrhythmias, or a family history of cardiac arrhythmias or sud-
and an assessment for baseline sleep, eating, and mood should be den death under 50 years of age, and if these symptoms are present, an
conducted because these need to be monitored for a child on medi- electrocardiogram and/or evaluation by a cardiologist to determine if it
cation. Children with ADHD and their families should be educated is safe to start these medications is recommended. Most children with
on the benefits, risks, and side effects of medication, with a dis- tics can be treated with stimulant medication, but occasionally these
cussion about goals and expectations for medication treatment. medications may exacerbate tics. In these cases, the risks and benefits
It is common for a child to need to try several trials of different of continuing versus changing or stopping the medication should be
medications or doses to find the optimal ADHD pharmacologic considered.
treatment that both reduces core ADHD symptoms and is well tol- Treatment of ADHD with stimulant medication is associated with
erated. ADHD rating scales can be used to assess for medication reduced substance use risks. However, stimulant medications them-
effectiveness and side effects, both at initiation and during medica- selves are controlled substances with potential for misuse, diversion,
tion maintenance, and should be collected from parents and teach- and abuse. Therefore clinicians should regularly counsel adolescent
ers when possible. patients about this risk, the importance of taking the medication only
The types of medications used to treat ADHD fall into one of as prescribed, and about safe medication storage practices (e.g., keep-
the following three categories: stimulants, norepinephrine reuptake ing medication in a secure location).

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 Chapter 51 u Dyslexia 315

Two types of selective norepinephrine reuptake inhibitors are

approved by the U.S. Food and Drug Administration (FDA) for the Chapter 51
treatment of ADHD in children and adolescents: atomoxetine and
viloxazine. These medications take up to 4 weeks to achieve effective-
ness and should be taken consistently to be effective. Both atomoxetine
and viloxazine have common side effects of fatigue, decreased appe-
Dyslexia
tite, nausea, vomiting, and irritability and a rare potential for suicidal Sally E. Shaywitz and Bennett A. Shaywitz
thinking and behaviors for which the child must be monitored.
α2-­Adrenergic agonist medications include guanfacine and cloni-
dine. Long-­acting preparations of both have U.S. FDA approval for
the treatment of ADHD in children ≥6 years old either as mono- DEFINITION
therapy or an adjunctive therapy with stimulant medication. Short-­ Dyslexia has always been defined as an unexpected difficulty in read-
acting preparations are sometimes used off-­label to treat young ing, which has been codified in U.S. Federal law (First Step Act of 2018,
(<6-­year-­old) children with ADHD (especially those with coexist- PL: 115–391) as the most up-­to-­date, evidence-­based definition of
ing autism spectrum disorder or sleep disorders). α2-­Adrenergic dyslexia: “The term dyslexia means an unexpected difficulty in reading
agonists may take up to 2 weeks to achieve an initial response. for an individual who has the intelligence to be a much better reader,
These medications can also treat motor and vocal tics and so may be most commonly caused by a difficulty in the phonological process-
a reasonable choice in a child with a coexisting tic disorder. Com- ing (the appreciation of the individual sounds of spoken language),
mon side effects of α2-­adrenergic agonists can include sedation, which affects the ability of an individual to speak, read, and spell.”
headaches, and hypotension, and they should be stopped gradually In typical readers, development of reading and intelligence quotient
because abrupt discontinuation could result in rapid increase in (IQ) are dynamically linked over time. In dyslexic readers, however, a
blood pressure. developmental uncoupling occurs between reading and IQ (Fig. 51.1),
Medication alone may not be sufficient to treat ADHD in chil- such that reading achievement is significantly below what would be
dren, particularly when children have additional psychiatric dis- expected given the individual’s IQ.
orders, developmental disabilities, or significant psychosocial The uncoupling between reading achievement and IQ provides the
challenges. When children do not respond to medication, it may be long-­sought empirical evidence for the seeming paradox between cog-
appropriate to refer them to a mental health specialist. Consulta- nition and reading in individuals with developmental dyslexia, and this
tion with a child psychiatrist, developmental-­behavioral pediatri- discrepancy is recognized in the federal definition as unexpected diffi-
cian, or psychologist can be beneficial to determine the next steps culty in reading. However, clinicians may see other approaches to diag-
for treatment, including adding other components and supports to nosis. The Diagnostic and Statistical Manual of Mental Disorders, Fifth
the overall treatment program. Evidence suggests that children who Edition (DSM-­5) describes specific learning disorder with impairment
receive careful medication management, accompanied by frequent in reading for children with reading skills significantly below those
treatment follow-­up, all within the context of an educational, sup- expected for the child’s age where the deficits are not explained by
portive relationship with the primary care provider, are likely to intellectual disability, sensory deficits, neurologic disorders, or psy-
experience behavioral gains. chosocial adversity. This definition can be problematic in failing to
differentiate primary problems with reading comprehension from the
PROGNOSIS reading problems experienced by children with dyslexia despite strong
More than half of individuals with a childhood diagnosis of ADHD evidence that the two are distinct. Further, excluding children with
will manifest a mental health condition (e.g., anxiety, depression, psychosocial adversity is concerning because children who struggle
substance use disorders) in adulthood. Approximately one third to with reading due to psychosocial adversity suffer similar adverse long-­
two thirds of those diagnosed with ADHD in childhood will con- term consequences and have been shown to benefit from interventions
tinue to manifest significant symptoms of ADHD in adulthood. In designed to help children with dyslexia.
children with ADHD, a reduction in hyperactive behavior often
occurs with age. Other symptoms associated with ADHD can
become more prominent with age, such as inattention, impulsiv-
Typical: Dyslexia:
ity, and disorganization, and these exact a heavy toll on adolescent IQ-Reading Linked IQ-Reading Diverge
and young adult functioning. Adolescents and young adults with
ADHD have an increased likelihood of risk-­taking behaviors (early Nonimpaired Dyslexic
sexual activity, delinquent behaviors, motor vehicle accidents, sub-
stance use), seizures, psychosis, educational underachievement or
employment difficulties, and relationship difficulties. With proper
treatment, the risks associated with ADHD, including injuries, can
be significantly reduced. Consistent treatment with medication and
adjuvant therapies appears to lower the risk of adverse outcomes,
such as substance abuse.

SECONDARY PREVENTION
Parent training can lead to significant improvements in ADHD IQ
symptoms and oppositional behaviors in preschool and school-­ Reading
age children with ADHD. To the extent that parents, teachers,
physicians, and policymakers support efforts for earlier detection, 2 4 6 8 10 12 2 4 6 8 10 12
diagnosis, and treatment, prevention of long-­term adverse effects
Grade in School
of ADHD on affected children’s functioning can be considered
within the lens of secondary prevention of the long-­term effects of Fig. 51.1 Uncoupling of reading and IQ over time: empirical evidence
untreated or ineffectively treated ADHD on children and youth. for a definition of dyslexia. Left, In typical readers, reading and IQ de-
velopment are dynamically linked over time. Right, In contrast, reading
and IQ development are dissociated in dyslexic readers, and one does
Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography. not influence the other. (Copyright Sally Shaywitz, MD. Adapted from
Shaywitz S, Shaywitz J. Overcoming Dyslexia, 2nd ed. New York: Vin-
tage Books;2020: 103.)

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316 Part IV u Learning and Developmental Disorders

EPIDEMIOLOGY mispronunciations, lack of glibness, speech that lacks fluency with

Dyslexia is the most common of the learning disabilities, affecting many pauses or hesitations and “ums,” word-­finding difficulties with
80–90% of children identified as having a learning disability. Dyslexia the need for time to summon an oral response, and the inability to
may be the most common neurobehavioral disorder affecting children, come up with a verbal response quickly when questioned; these reflect
with prevalence rates ranging from 20% in unselected population-­ sound-­based, not semantic or knowledge-­based, difficulties.
based samples to much lower rates in school-­ identified samples. Struggles in decoding and word recognition can vary according to
The low prevalence rate in school-­identified samples may reflect the age and developmental level. The cardinal signs of dyslexia observed
reluctance of schools to screen, assess, and identify dyslexia. Dyslexia in school-­age children and adults are a labored, effortful approach to
occurs with equal frequency in males and females in survey samples in reading involving decoding, word recognition, and text reading. Lis-
which all children are assessed. Despite such well-­documented find- tening comprehension is typically robust. Older children improve
ings, schools continue to identify more males than females, probably reading accuracy over time, but without commensurate gains in read-
reflecting the more rambunctious behavior of males who come to the ing fluency; they remain slow readers. Difficulties in spelling typically
teacher’s attention because of misbehavior, whereas females with read- reflect the phonologically based difficulties observed in oral reading.
ing difficulty, who are less likely to be misbehaving, are also less likely Handwriting is often affected as well.
to be noticed and identified by the schools. Dyslexia fits a dimensional History often reveals early subtle language difficulties in dyslexic
model in which reading ability and disability occur along a continuum. children. During the preschool and kindergarten years, at-­risk children
display difficulties playing rhyming games and learning the names for
PATHOGENESIS letters and numbers. Kindergarten assessments of these language skills
Evidence from a number of lines of investigation indicates that dyslexia can help identify children at risk for dyslexia. Although a dyslexic child
reflects deficits within the language system, and more specifically, within enjoys and benefits from being read to, the child might avoid reading
the phonologic component of the language system engaged in process- aloud to the parent or reading independently.
ing the sounds of speech. Individuals with dyslexia have difficulty devel- Dyslexia may coexist with attention-­ deficit/hyperactivity disor-
oping an awareness that spoken words can be segmented into smaller der (see Chapter 50); this comorbidity has been documented in both
elemental units of sound (phonemes), an essential ability given that read- referred samples (40% comorbidity) and nonreferred samples (15%
ing requires that the reader map or link printed symbols to their sounds. comorbidity).
Increasing evidence indicates that disruption of attentional mechanisms
may also play an important role in reading difficulties. DIAGNOSIS
Functional brain imaging in both children and adults with dyslexia A large achievement gap between typical and dyslexic readers is evi-
demonstrates an inefficient functioning of left hemisphere posterior dent as early as first grade and persists (Fig. 51.3). These findings pro-
brain systems, a pattern referred to as the neural signature of dyslexia vide strong evidence and impetus for early screening and identification
(Fig. 51.2). These differences can be observed before the start of formal of and early intervention for young children at risk for dyslexia. One
reading instruction, suggesting they represent a biologic predisposition source of potentially powerful and highly accessible screening informa-
to reading difficulties as opposed to a result of inadequate instruction. tion is their teacher’s judgment about the child’s reading and reading-­
Although functional magnetic resonance imaging (fMRI) consistently related skills. Evidence-­based screening can be carried out as early as
demonstrates differences between groups of dyslexic compared to typi- kindergarten, and also in grades 1-­3, by the child’s teacher. Their teach-
cal readers, brain imaging is not able to reliably differentiate an indi- ers’ responses to a small set of questions (10-­12 questions) predict a
vidual case of a dyslexic reader from a typical reader and thus is not pool of children who are at risk for dyslexia with a high degree of accu-
useful in diagnosing dyslexia. racy. This evidence-­based screening takes less than 10 minutes, is com-
pleted on a tablet, and is extremely efficient and economical. Children
CLINICAL MANIFESTATIONS
Reflecting the underlying phonologic weakness, children and
adults with dyslexia manifest problems in both spoken and writ-
ten language. Spoken language difficulties are typically manifest by 4

2
Reading

Fig. 51.2 A neural signature for dyslexia. Image on left shows left –1
hemisphere brain systems in typical (nonimpaired) readers. The three
systems for reading are an anterior system in the region of the inferior Typical readers
frontal gyrus (Broca’s area), serving articulation and word analysis, and –2 Dyslexic readers
two posterior systems: one in the occipitotemporal region serving word
analysis and a second in the occipitotemporal region (the word-­form 1 2 3 4 5 6 7 8 9
area) serving the rapid, automatic, fluent identification of words. In dys-
lexic readers (right image), the two posterior systems are functioning Grade in school
inefficiently and appear underactivated. This pattern of underactiva- Fig. 51.3 Reading from grades 1 through 9 in typical and dyslexic
tion in left posterior reading systems is referred to as the neural signa- readers. The achievement gap between typical and dyslexic readers is
ture for dyslexia. (Copyright Sally Shaywitz, MD. Adapted from Shay- evident as early as first grade and persists through adolescence. (Copy-
witz S. Shaywitz J. Overcoming Dyslexia, 2nd ed. New York: Vintage right Sally Shaywitz, MD. Adapted from Shaywitz S. Shaywitz J. Over-
Books;2020: 78.) coming Dyslexia, 2nd ed. New York: Vintage Books;2020: 56.)

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 Chapter 51 u Dyslexia 317

found to be at risk will then have further assessment and, if diagnosed Genome-­wide association studies (GWASs) in children with dys-
as dyslexic, should receive evidence-­based intervention. lexia have demonstrated that a large number of genes are involved,
Dyslexia is a clinical diagnosis, and history is especially critical. The each producing a small effect. Complex traits such as reading are the
clinician seeks to determine through history, observation, and psycho- work of thousands of genetic variants working in concert (see Chapter
metric assessment if there are unexpected difficulties in reading (based 103). Thus pediatricians should be wary of recommending any genetic
on the person’s intelligence, chronologic/grade, level of education, or test to their patients that purports to diagnose dyslexia in infancy or
professional status) and associated linguistic problems at the level of before language and reading have even emerged. It is unlikely that a
phonologic processing. No single test score is pathognomonic of dys- single gene or even a few genes will reliably identify people with dys-
lexia. The diagnosis of dyslexia should reflect a thoughtful synthesis of lexia. Rather, dyslexia is best explained by multiple genes, each contrib-
all clinical data available. uting a small amount toward the expression of dyslexia.
Dyslexia is distinguished from other disorders that can prominently
feature reading difficulties by the unique, circumscribed nature of the MANAGEMENT
phonologic deficit, one that does not intrude into other linguistic or The management of dyslexia demands a life-­span perspective. Early
cognitive domains. A core assessment for the diagnosis of dyslexia in in life the focus is on remediation of the reading problem. Applying
children includes tests of language, particularly phonology; reading, knowledge of the importance of early language, including phonologic
including real and pseudowords; reading fluency; spelling; and tests of skills and vocabulary, leads to significant improvements in children’s
intellectual ability. Additional tests of memory, general language skills, reading accuracy, even in predisposed children. As a child matures
and mathematics may be administered as part of a more comprehen- and enters the more time-­demanding setting of middle and then
sive evaluation of cognitive, linguistic, and academic function. high school, the emphasis shifts to the important role of providing
For informal screening, in addition to a careful history, the accommodations. Based on the work of the National Reading Panel,
primary care physician in an office setting can listen to the child evidence-­based reading intervention methods and programs are iden-
read aloud from the child’s own grade-­level reader. Keeping a set tified. Effective intervention programs provide systematic instruction
of graded readers available in the office serves the same purpose in five key areas: phonemic awareness, phonics, fluency, vocabulary,
and eliminates the need for the child to bring in schoolbooks. Oral and comprehension strategies. These programs also provide ample
reading is a sensitive measure of reading accuracy and fluency. The opportunities for writing, reading, and discussing literature.
most consistent and telling sign of a reading disability in an accom- Taking each component of the reading process in turn, effective
plished young adult is slow and laborious reading and writing. In interventions improve phonemic awareness: the ability to focus on
attempting to read aloud, most children and adults with dyslexia and manipulate phonemes (speech sounds) in spoken syllables and
display an effortful approach to decoding and recognizing single words. The elements found to be most effective in enhancing pho-
words, an approach in children characterized by hesitations, mis- nemic awareness, reading, and spelling skills include teaching chil-
pronunciations, and repeated attempts to sound out unfamiliar dren to manipulate phonemes with letters, focusing the instruction
words. In contrast to the difficulties they experience in decoding on one or two types of phoneme manipulations rather than multiple
single words, persons with dyslexia typically possess the vocabulary, types, and teaching children in small groups. Providing instruction
syntax, and other higher-­level abilities involved in comprehension. in phonemic awareness is necessary, but not sufficient, to teach
Fluency forms the bridge between decoding, that is, reading a children to read. Effective intervention programs include teach-
word accurately, and comprehension, understanding what is read. ing phonics, or making sure that the beginning reader understands
Fluent reading is reading accurately and rapidly, with good intona- how letters are linked to sounds (phonemes) to form letter-­sound
tion (prosody) indicating an understanding of the text. The failure correspondences and spelling patterns. The instruction should be
either to recognize or to measure the lack of fluency in reading is explicit and systematic; phonics instruction enhances children’s
perhaps the most common error in the diagnosis of dyslexia, espe- success in learning to read, and systematic phonics instruction is
cially in older children and accomplished young adults. Simple more effective than instruction that teaches little or no phonics or
word identification tasks will not detect dyslexia in a person who that teaches phonics casually or haphazardly. Important but often
is accomplished enough to be in honors high school classes or to overlooked is starting children on reading connected text early on,
graduate from college or obtain a graduate degree. Tests relying on optimally at or near the beginning of reading instruction. Read-
the accuracy of word identification alone are inappropriate to use to ing connected text is critical in building vocabulary and increas-
diagnose dyslexia because they show little to nothing of the struggle ing background knowledge—both important in improving reading
to read. Because they assess reading accuracy but not automaticity comprehension.
or prosody, the types of reading tests used for school-­age children Fluency is of critical importance because it allows the automatic,
might provide misleading data on bright adolescents and young rapid recognition of words. Although it is generally recognized that
adults. Among the most critical tests are those that are timed; they fluency is an important component of skilled reading, it is often over-
are the most sensitive in detecting dyslexia in a bright adult. Few looked in teaching. One approach is to have a child practice oral read-
standardized tests for young adult readers are administered under ing with a teacher or parent providing positive and helpful feedback.
timed and untimed conditions; the Nelson-­Denny Reading Test is an Here practice is critical. Interventions for vocabulary development and
exception. The helpful Test of Word Reading Efficiency (TOWRE) reading comprehension are not as well established. The most effective
examines simple word reading under timed conditions, and the methods to teach reading comprehension involve teaching vocabulary
Achievement Improvement Monitoring System (AIMSweb) and and strategies that encourage active interaction between the reader and
Dynamic Indicators of Basic Early Literacy Skills (DIBELS) mea- the text. Emerging science indicates that it is not only teacher content
sure reading connected text under timed conditions. Any scores knowledge but the teacher’s skill in engaging the student and focusing
obtained on testing must be considered relative to peers with the the student’s attention on the reading task at hand that is required for
same degree of education or professional training. effective instruction.
The interventions described here can be provided in multiple set-
IS FAMILY HISTORY HELPFUL IN DIAGNOSING tings, but specialized schools for children with dyslexia that provide
DYSLEXIA? intensive intervention over 4 years or more have been very effective.
Although dyslexia is familial, family history is not effective as a screen- Typically, these schools are costly, although increasingly offering
ing measure for dyslexia and does not improve the classification accu- scholarships. Some school districts are considering developing public
racy provided by an evidence-­based early screening measure. schools specializing in educating children with dyslexia.

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318 Part IV u Learning and Developmental Disorders

For those in high school, college, and graduate school, provision of A person who is dyslexic experiences through life aligns with our
accommodations most often represents a highly effective approach to Sea of Strengths model of dyslexia (Fig. 51.4). This model indicates that
dyslexia. Imaging studies now provide neurobiologic evidence of the in dyslexia there is a weakness in decoding reflecting the difficulties
need for extra time for dyslexic students; accordingly, college students connecting letters to sounds, a weakness that is very visible early on
with a childhood history of dyslexia require extra time in reading and when learning to read. At the same, this weakness is surrounded by a
writing assignments and in examinations. Many adolescent and adult sea of strengths in higher-­level cognitive, big-­picture thinking, includ-
students have been able to improve their reading accuracy, but without ing reasoning, problem solving, vocabulary, empathy, concept forma-
commensurate gains in reading speed. The accommodation of extra tion, and critical thinking. It is this sea of strengths that comes to the
time reconciles the individual’s often high cognitive ability and slow fore and supports a positive future as a person with dyslexia matures.
reading, so that the exam is a measure of that person’s ability rather The sea of strengths was very “visible” in a recent report examining the
than disability. Another important accommodation is helping the academic and social experiences in college and outcomes in the work-
student access text-­to-­speech programs. Excellent text-­to-­speech pro- place 5 or more years after graduation in Yale graduates with dyslexia
grams and apps are available for Apple and Android systems and the compared with a matched group of Yale graduates who were typical
PC and include Voice Dream Reader, Immersive Reader (available for readers. Dyslexic college graduates did not differ from typical gradu-
free in all Microsoft Office programs, including Word, OneNote, and ates either in college or in the workplace. Parents of dyslexic children
PowerPoint), Kurzweil Firefly, Read & Write Gold, Read: OutLoud, and often ask about their child’s future. These findings should reassure
Natural Reader. Voice-­to-­text programs are also helpful, often part of those pediatricians and parents that dyslexic students can succeed all
the suite of programs, as well as the popular Dragon Dictate. Voice-­to-­ along the developmental pathway throughout school, and now through
text is found on many smartphones. Other helpful accommodations college and the workplace. With proper support, dyslexic children can
include the use of laptop computers with spelling checkers, access to succeed in a range of future occupations that might seem out of their
lecture notes, tutorial services, and a separate quiet room for taking reach, including medicine, law, journalism, and writing.
tests.
In addition, the impact of the primary phonologic weakness in dys- Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography.
lexia mandates special consideration during oral examinations so that
students are not graded on their lack of glibness or speech hesitancies,
but on their content knowledge. Unfortunately, speech hesitancies or
difficulties in word retrieval often are wrongly confused with insecure
content knowledge. The major difficulty in dyslexia—reflecting prob-
lems accessing the sound system of spoken language—causes great
difficulty learning a second language. As a result, an often-­necessary
accommodation is a waiver or partial waiver of the foreign language Chapter 52
requirement; the dyslexic student may enroll in a course taught in Eng-

Math and Writing

lish on the history or culture of a non–English-­speaking country.

PROGNOSIS
Application of evidence-­based methods to young children, when pro-
vided with sufficient intensity and duration, can result in improve-
Disabilities
ments in reading accuracy and, to a much lesser extent, fluency.
Improvements in fluency can be effected with frequent practice in
reading aloud with the helpful input of a teacher or parent. As noted
earlier, accommodations are critical in allowing the dyslexic child to 52.1 Math Disabilities
demonstrate his or her knowledge. Kenneth L. Grizzle and Brittany J. Bice-­Urbach

Sea of strengths model of dyslexia Data from the U.S. National Center for Educational Statistics for 2009
showed that 69% of U.S. high school graduates had taken algebra 1,
88% geometry, 76% algebra 2/trigonometry, and 35% precalculus.
Concept These percentages are considerably higher than those from 20 years
formation Comprehension earlier. However, concerns remain about the limited mathematics lit-
eracy level for children, adolescents, and those entering the workforce;
General poor math skills predict numerous social, employment, and emotional
Reasoning knowledge challenges. The need for number and math literacy extends beyond the
Decoding workplace and into daily lives, and weaknesses can negatively affect
daily functioning. Research into the etiology and treatment of math
Critical
Empathy
disabilities falls behind the study of reading disabilities (see Chapter
thinking 51), and yet the database needed to effectively identify, treat, and mini-
mize the impact of math challenges on daily functioning and education
Problem is growing.
Vocabulary
solving
MATH LEARNING DISABILITY DEFINED
Understanding learning challenges associated with mathematics
Fig. 51.4 Sea of strengths model of dyslexia. In dyslexia, a circum-
scribed, encapsulated weakness in decoding is surrounded by a sea of
requires a basic appreciation of domain-­ specific terminology and
strengths in higher-­level thinking and reasoning. The weakness in decod- operations. The Diagnostic and Statistical Manual for Mental Disorders,
ing masks what are often excellent thinking and comprehension skills. Fifth Edition (DSM-­5) has published diagnostic criteria for learning
(Copyright Sally Shaywitz, MD. Adapted from Shaywitz S. Shaywitz J. disorders. Specific types of learning challenges are subsumed under the
Overcoming Dyslexia, 2nd ed. New York: Vintage Books;2020: 141.) broad term of specific learning disorder (SLD). The DSM-­5 identifies

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 Chapter 52 u Math and Writing Disabilities 319

the following features of a SLD with an impairment in math: diffi- students consistently score below the 25th percentile on math achieve-
culties mastering number sense, number facts, or fluent calculation ment tests across grades, often showing the same weak math-­related
and difficulties with math reasoning. Symptoms must be present for characteristics as those with MLD but with less severity. Complicating
a minimum of 6 months and persist despite interventions to address the identification of MLD and its differentiation from LA math stu-
the learning challenges. Number sense refers to a basic understanding dents is the variability in relative complexity of math concepts that may
of quantity, number, and operations and is represented as nonverbal result in short-­lived math difficulties.
and symbolic. Examples of number sense include an understanding
that each number is 1 more or 1 less than the previous or following EPIDEMIOLOGY
number, knowledge of number words and symbols, and the ability to Prevalence
compare the relative magnitude of numbers and perform simple arith- Depending on how MLD is defined and assessed, the prevalence varies.
metic calculations. Based on findings from multiple studies, approximately 7% of children
The DSM-­5 definition can be contrasted with an education-­defined will show a MLD profile before high school graduation. An additional
learning disability in mathematics. Two math-­related areas are iden- 10% of students will be identified as LA. Because research in the area
tified as part of the Individuals with Disabilities Education Act typically requires that individuals show deficits for consecutive years,
(IDEA): mathematics calculation and mathematics problem solving. the respective prevalence estimates are lower than the 10th percentile
Operationally, this is reflected in age-­level competency in arithmetic cutoff for being identified as having an MLD or the 25th percentile
and math calculation, word problems, interpreting graphs, under- cutoff for being identified as LA. It is not unusual for children to score
standing money and time concepts, and applying math concepts to below the criterion one year and then above the criterion in subsequent
solve quantitative problems. The federal government allows states to years. Males are at greater risk to experience MLD.
choose the way a learning disability (LD) is identified if the procedure
is “research based.” Referred to specifically in the IDEA as methods for Risk Factors
identifying an LD are a discrepancy model and “use of a process based Genetics
on the child’s response to scientific, research-­based intervention.” The The heritability of math skills is estimated to be approximately 0.50.
former refers to identifying an LD based on a pronounced discrepancy The heritability or genetic influence on math skills is consistent across
between intellectual functioning and academic achievement. The latter, the continuum from high to low math skills. This research empha-
referred to as a response to intervention (RtI) model, requires school sizes that although math skills are learned across time, the stability of
systems to screen for a disability, intervene using evidence-­based treat- math performance is the result of genetic influences. Math heritability
ments for the identified disability, closely monitor progress, and make appears to be the product of multiple genetic markers, each having a
necessary adjustments to the intervention as needed. If a child is not small effect.
responding adequately, a multidisciplinary team is created, and an
evaluation is then completed to determine whether the child quali- Medical/Genetic Conditions
fies for special education programming. Not responding to the inter- Numerous genetic syndromes are associated with math problems.
ventions alone does not result in automatic qualification for services Although most children with fragile X syndrome have an intellectual
outside of regular education. Rather, it is a three-­step process: lack of disability (ID), approximately 50% of females with the condition do
adequate progress to the interventions, an evaluation of the area(s) not. Of those without an ID, ≥75% have a math disability by the end
of concern, and then determination by the team if an individualized of third grade and are already scoring below average in mathematics
educational plan (IEP) is needed. The IEP team typically consists of in kindergarten and first grade. For females with fragile X MLD, weak
teachers, special education teacher, school psychologist, school district working memory seems to play an important role. The frequency of
representative, parents, and, depending on their age, the student. MLD in Turner syndrome (TS) is the same as that found in females
It is important that primary care providers understand the RtI pro- with fragile X syndrome. A consistent finding is females with TS
cess because many states require or encourage this approach to iden- complete math calculations at significantly slower speed than typi-
tifying LDs. Confusion can be avoided by helping concerned parents cally developing students. Although females with TS have weak cal-
understand that a school may review their child’s records, screen the culation skills, their ability to complete math problems not requiring
skills of concern, and provide intervention with close progress moni- explicit calculation is similar to that of their peers. The percentage of
toring before initiating the process for an IEP. Traditional psychoedu- children with 22q11.2 deletion syndrome (22q11.2ds) with MLD is
cation testing (IQ and achievement) may only be completed if a child not clear. Younger children with this genetic condition (6-­10 years
has not responded well to specific interventions. The RtI approach is a old) showed similar number sense and calculation skills as typically
valuable, empirically supported way to approach and identify a poten- developing children but weaker math problem solving. Older children
tial LD but is very different from a medical approach to diagnosis and with 22q11.2ds showed slower speed in their general number sense
treatment. First and foremost, this allows for early intervention, which and calculations, but accuracy was maintained. Weak counting skills
has been shown repeatedly to decrease the likelihood of a later identi- and magnitude comparison have been found in this group of children,
fied LD. Intervening early also allows educators to avoid the “wait to suggesting weak visual-­spatial processing. Children with myelome-
fail” model that all too often waited for children to enter third or fourth ningocele are at greater risk for math difficulties than their unaffected
grade before receiving needed services. peers. Almost 30% of these children have MLD without an additional
diagnosed learning disorder, and >50% have both math and reading
Terminology learning disorders. Although broad, deficits are most pronounced in
The term dyscalculia, often used in medicine and research but seldom speed of math calculation and written computation.
used by educators, is reserved for children with a SLD in math when
there is a pattern of deficits in learning arithmetic facts and accurate, Comorbidities
fluent calculations. The term math learning disability (MLD) is used It is estimated that 30–70% of those with MLD will also have a read-
generically here, with dyscalculia used when limiting the discussion ing disability. This is especially important because children with MLD
to children with deficient math calculation skills. A distinction is also are less likely to be referred for additional educational assistance and
made between children with a MLD and those who are low achieving intervention than students with reading problems. Unfortunately, chil-
(LA) in math; both groups have received considerable research focus. dren identified with both learning challenges perform poorer across
Although not included in either definition provided earlier, research psychosocial and academic measures than children with MLD alone.
into math deficits often require that individuals identified with MLD Having a MLD places a child at greater risk for not only other learning
have math achievement scores below the 10th percentile across mul- challenges but also psychiatric disorders, including attention-­deficit/
tiple grade levels. These children start out poorly in math and con- hyperactivity disorder (ADHD), oppositional defiant disorder, conduct
tinue poor performance across grades, despite interventions. LA math disorder, generalized anxiety disorder, and major depressive disorder.

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320 Part IV u Learning and Developmental Disorders

Individuals with MLD have been found to have increased social isola- potentially have on math. Deficits in WM, auditory and visual, can neg-
tion and difficulties developing social relationships in general. atively affect a child’s development of math skills. A child approaching
a word problem exemplifies the impact of various executive skills on
CAUSES OF MATH LEARNING DISABILITY math. The child must keep in memory the content read and integrate it
There is a consensus that individuals with MLD are a heterogeneous with what they know about the topic and possible operation to apply,
group, with multiple potential broad and specific deficits contribut- all the while not responding to the irrelevant information contained
ing to their learning difficulties. Research into the causes of MLD has within the passage. Creating a mental representation of the problem
focused on math-­specific processes and broad cognitive deficits, with requires use of the visual sketch pad (visual WM).
an appreciation that these two factors are not always independent.
Math-­Specific Processes
Broad Cognitive Processes Number Sense
Intelligence The term number sense has been defined in different ways, though the
Intelligence affects learning, but if intellectual functioning were the general agreement is that the concept refers to an intuitive preverbal
primary driver of poor math performance, the math skills of low-­IQ ability to identify an approximation of items within a set that precedes
children would be similar or worse than individuals with MLD. On the formal math instruction. This is seen in the ability to recognize and
contrary, children with MLD have significantly poorer math achieve- manipulate nonsymbolic properties without having to apply a name to
ment than children with low IQ. Children with MLD have severe deficits the process—for example, recognizing that a box of three dots is fewer
in math not accounted for by their cognitive functioning. Individuals than a box containing five dots. Unlike their peers, children with MLD
with lower cognition may have difficulty learning mathematics, but are more likely to count the number of items within the comparison
their math skills are likely to be commensurate with their intelligence. rather than recognizing the apparent difference.
Math is a symbolic process and cannot be efficiently learned and
Memory mastered without understanding this numerical skill. There is consid-
Working memory (WM) refers to the ability to keep information in erable evidence that young children who struggle to develop symbolic
mind while using the information in other mental processes. WM is numerical representation, in contrast to number sense, are at con-
composed of three core systems: the central executive, the language-­ siderable risk to have difficulty developing higher-­level math skills.
related phonologic loop, and the visual-­based sketch pad. The central Examples of symbolic representations range from recognizing that the
executive coordinates the functioning of the other two systems. All numeral 4 and word four reflect a quantity and quickly recognizing the
three play a role in various aspects of learning and in the development larger (or smaller) of two numbers, all the way to understanding frac-
and application of math skills in particular; children with MLD have tions and more complex notations.
shown deficits in each area.
Committing math facts to and/or retrieving facts from memory Procedural Errors
has consistently been found to be problematic for children with MLD. The type of errors made by children with a, MLD are typical for any
This is not necessarily limited to inaccurate retrieval of facts but also child, the difference being that children with a LD show a 2-­to 3-­year
speed of retrieval, independent of broader speed of processing defi- lag in understanding the concept. An example of a common error a
cits. Unfortunately, unlike some typically developing peers who may first-­grade child with a, MLD might make when “counting on” is to
be slower but accurate in their fact retrieval, students with MLD are undercount: “6 + 2= ?”; “6, 7” rather than starting at 6 and counting
often slow and inaccurate. Weak fact encoding or retrieval alone do an additional two numbers. As children with math deficits get older,
not determine an MLD diagnosis. Many math curricula in the United it is common to subtract a larger number from a smaller number. For
States do not include development of math facts as a part of the instruc- example, in the problem “63 − 29 = 46,” the child makes the mistake
tional process, resulting in children not knowing basic facts. of subtracting 3 from 9. Another common error is not decreasing the
number in the 10s column when borrowing: “64 − 39 = 35.” For both
Processing Speed adding and subtracting, there is a lack of understanding of the com-
Individuals with MLD are often slower to complete math problems than mutative property of numbers and a tendency to use repeated addition
their typically developing peers, a result in part of their poor fact retrieval rather than fact retrieval. It is not that children with an MLD do not
rather than broader speed of processing deficits. However, young chil- develop these skills, it is that they develop them much later than their
dren later identified with a MLD when beginning school have numerical-­ peers, thereby making the transition to complicated math concepts
processing speed that is considerably slower than same-­age same-­grade much more challenging.
peers. This is reflected in the time required to recognize numbers, cor- Unlike dyslexia, in which deficits have been isolated and identified as
rectly order fractions, and complete word problems. causal (see Chapter 51), factors involved in the development of a MLD
are much more heterogeneous. Alone, none of the processes previously
Problem Solving outlined fully account for MLD, although all have been implicated as
Not only do children with MLD struggle to quickly and accurately problematic for those struggling with math.
engage in numerical-­related activities, in part because of these diffi-
culties, they commonly rely on less efficient and laborious problem-­ TREATMENT AND INTERVENTIONS
solving practices. This is seen in children relying on finger counting The most effective interventions for MLD are those that include
beyond second grade, use of repeated adding for multiplication facts, explicit instruction on solving specific types of problems and that take
pronounced difficulty moving beyond reliance on manipulatives, and place over several weeks to several months. Skill-­based instruction is a
drawing objects to help with calculation. Difficulties with math pro- critical component; general math problem solving will not carry over
cesses across multiple levels can result in math being a time-­intensive across various math skills unless the skill is part of a more complex
and time-­consuming process for kids with MLD. math concept. Clear, comprehensive guidelines for effective interven-
tions for students struggling with math have been provided by the
Executive Skills U.S. Department of Education in the form of a Practice Guide released
Difficulties with executive functioning (EF) can lead to challenges in through the What Works Clearinghouse. This document gives excel-
multiple areas of a child’s life, academic and nonacademic (see Chap- lent direction in the identification and treatment of children with math
ter 49). Performance in math is but one example. EF refers to skills difficulties in the educational system. Although not intended for medi-
including but not limited to sustained attention, managing impulses, cal personnel or parents, the guide is available free of charge and can be
cognitive and behavioral flexibility, and WM. Anyone who has worked helpful for parents when talking to teachers about their child’s learning.
with children diagnosed with ADHD, a group of kids notorious for Table 52.1 lists additional resources for parents concerned about their
having EF challenges, can appreciate the impact these behaviors could young child’s development of math facts.

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 Chapter 52 u Math and Writing Disabilities 321

Table 52.1  Parent Resources for the Child with Math Table 52.3  DSM-­5 Diagnostic Criteria for Specific Learning
Learning Disability Disability with Impairment in Written Expression
Let’s Talk About Math. Available from http://www.zerotothree.org/p A. Difficulties learning and using academic skills that have persisted
arenting-­resources/early-­math-­video-­series. Accessed September for at least 6 months, despite the provision of interventions that
19, 2021. target those difficulties.
Mixing in Math. Available from https://www.terc.edu/mixinginmath/. Difficulties with written expression (e.g., makes multiple grammatical
Accessed September 19, 2021. or punctuation errors within sentences; employs poor paragraph
PBS Parents. Math resources available to parents through the Public organization; written expression of ideas lacks clarity).
Broadcasting Service website. Accessed September 19, 2021. B. The affected academic skills are substantially and quantifiably
http://www.pbs.org/parents/earlymath/index.html below those expected for the individual’s chronologic age and
cause significant interference with academic or occupational
http://www.pbs.org/parents/education/math/
performance or with activities of daily living, as confirmed by
Understood: Math. Available from https://www.understood.org/topi individually administered standardized achievement measures
cs/en/math. and comprehensive clinical assessment. For individuals age 17
U.S. Department of Education. Helping your child learn years and older, a documented history of impairing learning
mathematics. Available from https://www2.ed.gov/parents/academ difficulties may be substituted for the standardized assessment.
ic/help/math/index.html. Accessed September 19, 2021. C. The learning difficulties begin during school-­age years but may
not become fully manifest until the demands for those affected
academic skills exceed the individual’s limited capacities (e.g., as
in timed tests, reading or writing lengthy complex reports for a
Table 52.2  Risk Factors for a Specific Learning Disability tight deadline, excessively heavy academic loads).
Involving Mathematics D. The learning difficulties are not better accounted for by intellectual
disabilities, uncorrected visual or auditory acuity, other mental or
The child is at or below the 20th percentile in any math area, as neurologic disorders, psychosocial adversity, lack of proficiency in
reflected by standardized testing or ongoing measures of progress the language of academic instruction, or inadequate educational
monitoring. instruction.
The teacher expresses concerns about the child’s ability to “take the 315.2 (F81.81) With impairment in written expression:
next step” in math. Spelling accuracy
There is a positive family history for math learning disability (this Grammar and punctuation accuracy
alone will not initiate an intervention). Clarity or organization of written expression
Parents think they have to “reteach” math concepts to their child. Specify current severity:
Mild: Some difficulties learning skills in one or two academic
domains, but of mild enough severity that the individual may be
Awareness that most public school systems have implemented some able to compensate or function well when provided with appropriate
accommodations or support services, especially during the school
form of an RtI model to identify LDs allows the primary care physician
years.
to encourage parents to return to the school seeking an intervention
Moderate: Marked difficulties learning skills in one or more academic
to address their child’s concern. Receiving special education services domains, so that the individual is unlikely to become proficient
in the form of an IEP may be necessary for some children. However, without some intervals of intensive and specialized teaching during
the current approach to identifying children with an LD allows school the school years. Some accommodations or supportive services at
systems to intervene earlier, when problems arise, and potentially avoid least part of the day at school, in the workplace, or at home may be
the need for an IEP. Pediatricians with patients whose parents have needed to complete activities accurately and efficiently.
received feedback from school with any of the risk factors outlined in Severe: Severe difficulties learning skills, affecting several academic
Table 52.2 should encourage the parents to discuss an intervention plan domains, so that the individual is unlikely to learn those skills without
with the child’s teacher. ongoing intensive individualized and specialized teaching for most of
the school years. Even with an array of appropriate accommodations
or services at home, at school, or in the workplace, the individual may
Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography.
not be able to complete all activities efficiently.
From the Diagnostic and Statistical Manual of Mental Disorders, 5th ed. Washington,
52.2 Writing Disabilities DC: American Psychiatric Association; 2013:66–67.

Kenneth L. Grizzle and Brittany J. Bice-­Urbach

Oral language is a complex process that typically develops in the

absence of formal instruction. In contrast, written language requires is primarily a deficit in motor output (paper/pencil skills), and IWE
instruction in acquisition (word reading), understanding (reading is a conceptual weakness in developing, organizing, and elaborating
comprehension), and expression (spelling and composition). Unfor- on ideas in writing.
tunately, despite reasonable pedagogy, a subset of children struggle The diagnoses of IWE and dysgraphia are made largely based on
with development in one or several of these areas. The disordered phenotypical presentation; spelling, punctuation, grammar, clar-
output of written language is currently referred to within the Diag- ity, and organization are factors to consider with IWE concerns.
nostic and Statistical Manual for Mental Disorders, Fifth Edition Aside from these potentially weak writing characteristics, however,
(DSM-­5) as a specific learning disorder with impairment in writ- no other guidelines are offered. Based on clinical experience and
ten expression (Table 52.3). research into the features of writing samples of children with disor-
Various terminology has been used when referring to individuals dered writing skills, one would expect to see limited output, poor
with writing deficits; this subchapter uses the term impairment in organization, repetition of content, and weak sentence structure
written expression (IWE) rather than “writing disorder” or “disor- and spelling despite the child taking considerable time to produce
der of written expression.” Dysgraphia is often used when referring a small amount of content. For those with comorbid dysgraphia,
to children with writing problems, sometimes synonymously with the legibility of their writing product will also be poor, sometimes
IWE, though the two are related but distinct conditions. Dysgraphia illegible.

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322 Part IV u Learning and Developmental Disorders

EPIDEMIOLOGY use of language, including though not limited to greeting and mak-
The incidence of IWE is estimated at 6.9–14.7%, with the relative ing requests, adjustments to language used to meet the need of the
risk for IWE ∼2.5 times higher for males than for females. The risk situation or listener, and following conversation rules verbally and
for writing problems is much greater among select populations; nonverbally. Higher-­level language goes beyond basic vocabulary,
>50% of children with oral language disorders reportedly have word form, and grammatical skills and includes making inferences,
IWE. The relationship between attention-­deficit/hyperactivity dis- understanding and appropriately using figurative language, and
order (ADHD) and learning disorders in general is well established, making cause-­and-­effect judgments. Weaknesses in these areas,
including IWE estimates in the 60% range for the combined and with or without intact foundational language, can present challenges
inattentive presentations of ADHD. Because of the importance of for students in all academic areas that require writing. For example,
working memory (WM) and other executive functions in the writ- whether producing an analytic or narrative piece, the writer must
ing process, any child with weakness in these areas will likely find understand the extent of the reader’s background knowledge and in
the writing process difficult (see Chapter 49). turn what information to include and omit, make an argument for
a cause-­and-­effect relationship, and use content-­specific vocabulary
SKILL DEFICITS ASSOCIATED WITH IMPAIRED or vocabulary rich in imagery and nonliteral interpretation.
WRITING
Written language, much like reading, occurs along a developmental Executive Functions
trajectory that can be seamless as children master skills critical to Writing is a complicated process and, when done well, requires the
the next step in the process. Mastery of motor control that allows effective integration of multiple processes. Executive functions (EFs)
a child to produce letters and letter sequences frees up cognitive are a set of skills that include planning, problem solving, monitoring,
energy to devote to spelling words and eventually stringing words and adjusting as needed (see Chapter 49). Three recursive processes
into sentences, paragraphs, and complex composition. Early in the have consistently been reported as involved in the writing process:
development of each individual skill, considerable cognitive effort translation of thought into written output, planning, and reviewing.
is required, although ideally the lower-­level skills of motor produc- Coming up with ideas, although challenging for many, is simply the
tion, spelling, punctuation, and capitalization (referred to as writ- first step when writing a narrative (story). Once an idea has emerged,
ing mechanics or writing conventions) will gradually become the concept must be developed to include a plot, characters, and sto-
automatic and require progressively less mental effort. This effort ryline and then coordinated into a coherent whole that is well orga-
can then be devoted to higher-­level skills, such as planning, organi- nized and flows from beginning to end. Even if one develops ideas and
zation, application of knowledge, and use of varied vocabulary. For begins to write them down, persistence is required to complete the task,
children with writing deficits, breakdowns can occur at one, some, which requires self-­regulation. Effective writers rely heavily on EFs, and
or every stage. children with IWE struggle with this set of skills. Poor writers seldom
engage in the necessary planning and struggle to self-­monitor and
Transcription revise effectively.
Among preschool and primary grade children, there is a wide range
of what is considered “developmentally typical” as it relates to letter Working Memory
production and spelling. However, evidence indicates that poor writ- WM refers to the ability to hold, manipulate, and store informa-
ers in later grades are slow to produce letters and write their name in tion for short periods. The more space available, the more memory
preschool and kindergarten. Weak early spelling and reading skills (let- can be devoted to problem solving and thinking tasks. Neverthe-
ter identification and phonologic awareness; see Chapter 51) and weak less, there is limited space in which information can be held, and
oral language have also been found to predict weak writing skills in the more effort devoted to one task, the less space is available to
later elementary grades. Children struggling to master early transcrip- devote to other tasks. WM has consistently been shown to play an
tion skills tend to write slowly, or when writing at reasonable speed, the important role in the writing process, because weak WM limits the
legibility of their writing degrades. Output in quantity and variety is
limited, and vocabulary use in poor spellers is often restricted to words Text Generation
they can spell.
(Words, sentences, discourse)
As children progress into upper elementary school and beyond,
a new set of challenges arises. They are now expected to have mas-
tered lower-­level transcription skills, and the focus turns to the
application of these skills to more complex text generation. In addi-
tion to transcription, this next step requires the integration of addi-
tional cognitive skills that have yet to be tapped by young learners.
Working Memory
Oral Language
Language, though not speech, has been found to be related to writ-
ing skills. Writing difficulties are associated with deficits in both
expression and comprehension of oral language. Writing character-
istics of children with specific language impairment (SLI) can dif- Transcription Executive Functions
fer from their unimpaired peers early in the school experience and
persist through high school (see Chapter 53). In preschool and kin- (Handwriting, keyboarding, (Conscious attention,
dergarten, as a group, children with language disorders show poorer spelling) planning, reviewing,
letter production and ability to print their name. Poor spelling and revising, strategies
for self-regulation)
weak vocabulary also contribute to the poor writing skills. Beyond
primary grades, the written narratives of SLI children tend to be Fig. 52.1 Simple view of writing. (From Berninger VW. Preventing
evaluated as “lower quality with poor organization” and weaker use written expression disabilities through early and continuing assessment
of varied vocabulary. and intervention for handwriting and/or spelling problems: Research
into practice. In: Swanson HL, Harris KR, Graham S [eds]. Handbook of
Pragmatic language and higher-­level language deficits also nega- Learning Disabilities. New York: The Guilford Press;2003.)
tively affect writing skills. Pragmatic language refers to the social

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April 20, 2024. For personal use only. No other uses without permission. Copyright ©2024. Elsevier Inc. All rights reserved.
 Chapter 52 u Math and Writing Disabilities 323

space available. Further, when writing skills that are expected to be transcription. Emphasis will vary depending on the deficit specific
automatic continue to require effort, precious memory is required, to the child. A well-­researched and well-­supported intervention for
taking away what would otherwise be available for higher-­level poor writers is self-­regulated strategy development (SRSD). The
language. six stages in this model include developing and activating a child’s
The Simple View of Writing is an approach that integrates each background knowledge, introducing and discussing the strategy
of the four ideas just outlined to describe the writing process (Fig. that is being taught, modeling the strategy for the student, assisting
52.1). At the base of the triangle are transcription and EFs, which the child in memorization of the strategy, supporting the child’s use
support, within WM, the ability to produce text. Breakdowns in of the strategy during implementation, and independent use of the
any of these areas can lead to poor writing, and identifying where strategy. SRSD can be applied across various writing situations and
the deficit(s) are occurring is essential when deciding to treat the is supported until the student has developed mastery. The model
writing problem. For example, children with weak graphomo- can emphasize the areas most needed by the child.
tor skills (e.g., dysgraphia) must devote considerable effort to the An additional excellent resource is entitled Teaching Elementary
accurate production of written language, thereby increasing WM School Students to Be Effective Writers and is found within the What
use devoted to lower-­level transcription and limiting memory that Works Clearinghouse maintained by the U.S. Department of Educa-
can be used for developing discourse. The result might be painfully tion’s Institute of Education Science.
slow production of a legible story or a passage that is largely illeg-
ible. If, on the other hand, a child’s penmanship and spelling have Educational Resources
developed well but their ability to persist with challenging tasks or Children with identified learning disorders can potentially qualify for
to organize their thoughts and develop a coordinated plan for their formal education programming through special education or a Sec-
paper is limited, one might see very little information written on tion 504 plan. Special education is guided on a federal level by the
the paper despite considerable time devoted to the task. Lastly, even Individual with Disabilities Education Act (IDEA) and includes
when skills residing at the base of this triangle are in place, stu- development of an individual education plan (IEP) (see Chapter 49).
dents with a language disorder will likely produce text that is more The processes involved in pursuing an IEP are somewhat complex
consistent with their language functioning than their chronologic and outlined in the chapter on math learning disability (MLD). A 504
grade or age. plan provides accommodations to help children succeed in the regular
classroom. Accommodations that might be provided to a child with
TREATMENT IWE, through an IEP or a 504 plan, include dictation to a scribe when
Poor writing skills can improve with effective treatment. Weak confronted with lengthy writing tasks; additional time to complete
graphomotor skills may not necessarily require intervention from exams that require writing; and use of technology such as keyboard-
an occupational therapist (OT), although Handwriting Without ing, speech-­to-­text software, and writing devices that record teacher
Tears is a curriculum frequently used by OTs when working with instruction.
children with poor penmanship. An empirically supported writ- Speech-­ to-­
text capability is available on most smartphones,
ing program has been developed by Berninger, but it is not widely which can be helpful for students from a functional standpoint.
used inside or outside school systems (PAL Research-­Based Reading Educational resources that can be accessed inside and outside the
and Writing Lessons). Her research suggests that for children with classroom are often readily available for all children but may need
dysgraphia, lower-­level transcription skills should be emphasized to be included as an accommodation for a child with dysgraphia.
to the point of becoming automatic. The connection between tran- Examples of easily available software include Voice Dictation in
scription skills and composition should be included in the instruc- Google Docs and Dictation in Microsoft Word, both available at
tional process; that is, children need to see how their work at letter no cost. More sophisticated apps that can be purchased include
production is related to broader components of writing. Further, Co:Writer for Chrome, Read & Write, and Kurzweil 3000. Kurzweil
because of WM constraints that frequently affect the instructional 3000 is a comprehensive assistive technology device that, in addi-
process for students with learning disorders, all components of tion to speech-­to-­text and text-­to-­speech, offers multiple valuable
writing should be taught within the same lesson. Building upon resources for students with any type of literacy-­based learning dis-
Berninger’s sequencing of skills, Otaiba, Gillespie-­Rouse, and Baker ability. Editing is a critical component of the writing process and,
summarized features of effective handwriting instruction for kids for children struggling with written expression, can present quite a
who struggle: direct instruction on letter formation that is modeled challenge. Microsoft Word has built-­in spelling and grammar cor-
and followed using verbal and visual instruction; retrieving letters rection suggestions, as do other word processing programs such as
from memory using such strategies as a child viewing the letter, Pages and Google Docs. Apps for use when using the internet are
covering, and reproducing the letter; children identifying their own also available to help with spelling, grammar, and writing mechan-
errors; newly learned letters are integrated into word and sentence ics. One example—though there are others—is Grammarly. When
context and then into a child’s own writing product; integration of recommending that parents pursue assistive technology for their
multisensory strategies; and handwriting interventions included child as a potential accommodation, the physician should empha-
practice, occurred regularly, and were relatively brief but meaning- size the importance of instruction to mastery of the device being
ful (children learned that writing had a purpose beyond accurately used. Learning to use technology effectively requires considerable
producing letters). time and is initially likely to require additional effort, which can
Explicit instruction of writing composition strategies combined result in frustration and avoidance.
with implementation and coaching in self-­regulation will likely pro-
duce the greatest gains for students with writing deficits beyond Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography.

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324 Part IV u Learning and Developmental Disorders

report first words appearing as young as 7 and as late as 15 months.

Chapter 53 Children’s first words mark their expressive skills in their lexicon (see
Table 53.1), and first words may come from a variety of categories (e.g.,

Language Development people, objects, and greetings). Many children recognize their own
name between 7 and 15 months old. Initial word learning is typically
very slow, but the rate of acquisition of new words gradually acceler-
and Communication ates. Expressive lexical errors are common at this age and can include
overextensions (e.g., all edible objects are “apples”) or underextensions
Disorders (e.g., only one specific spoon is labeled “spoon”). Between 1 and 2
years, children build a lexicon of over 50 words. The vocabulary spurt
is rapid acceleration in word learning, usually after children reach 50
Janet Y. Bang and Heidi M. Feldman words in expressive language and coincident with the beginning of
two-­word phrases.
By approximately 2 years, children begin to demonstrate their devel-
There are over 6,000 languages in the world, each with a distinct set of oping understanding of morphology and syntax (see Table 53.1).
symbols, defined as words or signs that signify objects, actions, ideas, Morphology and syntax rules differ by language. Children’s receptive
or relationships. By combining symbols in novel ways, humans can syntax skills are evident when they can follow simple directions or
create an infinite number of meanings. Human communication (Table answer wh-­questions. Notable expressive morphologic milestones in
53.1) encompasses language, speech, nonverbal gestures, and written English include the use of the present progressive tense (e.g., “go-­ing”)
language. Typically developing children learn language skills seemingly and the plural -­s (e.g., dog-­s). Expressive syntax skills are evident via
without effort or explicit education early in the course of development. children’s early creative word combinations, starting with two-­word
However, there is wide variation in how and when children learn and combinations, which are likely to vary from adult models (e.g., in Eng-
use language, speech, and communication. Globally, families differ in lish “me down!” or “ick eggs!”). By 3 years, children begin to produce
the specific languages and number of languages they speak and in the sentences as long as five words and with increasingly complex gram-
ways in which they communicate to convey their beliefs, values, and mar, such as negation (e.g., in English “I no want to”) and questions
circumstances. Children vary in their rates of learning language and (e.g., “What he do?”). As in these examples, lexical, morphologic, and/
the highest level of skills they attain. Milestones within each domain or syntax errors in understanding and production are common dur-
(language, speech, communication) signify the unfolding steps by ing this early phase of syntactic development. Morphologic or syntax
which new structures and skills come into children’s language abili- errors in production may consist of overgeneralizations (e.g., in Eng-
ties (Table 53.2 and Fig. 53.1). Some children require explicit educa- lish, generalizing the “-­ed” ending to all verbs such as “runned” rather
tion or clinical support to learn language or to make their speech easily than “ran”; in Spanish, Italian, or French, using the masculine articles
interpretable. with feminine nouns). By 4-­5 years, children are able to use sentences
with adult-­like grammar (e.g., in English “I fell because I was running
TYPICAL DEVELOPMENT too fast.”), although they may still make mistakes (e.g., in English “I gots
Development of Phonology 1 game and he got 3 games.”). Children also engage in longer, coherent,
Every language is made up of an inventory of speech sounds or pho- connected discourse, such as telling or retelling stories and recounting
nemes (see Table 53.1), and the number of speech sounds varies across the steps of a familiar activity, such as taking a bath.
languages (e.g., Hawaiian = 13, Cantonese = more than 36, English =
46). Speech perception depends on the physical structures of the ear Development of Pragmatics
and the auditory processing system. Fetuses detect sound as early as 28 Pragmatic skills begin in infancy. The ability to attend to and follow
weeks’ gestation, and within 5 days after birth, infants can demonstrate another’s eye gaze develops as early as 3-­4 months old. As young as 3
the ability to discriminate vowel sounds (i.e., English vs Swedish) and months old, children can engage in protoconversations, turn-­taking
show preferences for their own prenatal monolingual or bilingual lan- patterns with caregivers that resemble early conversations. Respon-
guage environments (i.e., English vs Tagalog-­English). Infants develop sive, contingent interactions between caregivers and children provide
their speech sound perception, built on the ability to track the statisti- infants the opportunity to experience, imitate, and practice the timing,
cal probabilities of sound combinations (e.g., b + a is more prevalent rhythm, and rate of nonverbal pragmatic skills, such as facial expres-
in language than b + d), segment sounds and words from a stream of sions, body language, and intonation. By 6 months, many infants can
speech, and become attuned to the speech sounds in their respective passively follow the adult’s line of visual regard, resulting in a joint ref-
language or languages. Older children or adults learning a new lan- erence to the same objects and events in the environment. The ability
guage need to learn a new speech sound inventory. to share the same experience is critical to the development of further
Speech production involves activating the physical structures of language, social, and cognitive skills as infants “map” specific meanings
the respiratory tract and oral cavity, such as the lips, tongue, and vocal onto their experiences. By 10-­13 months, many infants can actively
cords, all of which work in concert. Infants begin producing nonspeech show, give, and point to objects. Children vary widely in when these
cooing sounds at 4-­6 weeks. By 6-­8 months, many infants engage in skills first appear; English-­speaking families have reported pointing
canonical babbling (e.g., bababa) followed by variegated babbling (e.g., skills as early as 6 months and as late as 16 months.
badadeda). Infants who are exposed to sign language from birth dem- An important facet of typical communication development and a
onstrate manual babbles at around the same time as hearing infants building block of conversational turn-­taking skills includes establish-
begin vocal babbles. These skills lay the stage for infants’ first words ing a joint focus of attention, a sharing of the topic of conversation
and subsequent word combinations. Speech production continues to with a communicative partner, both in comprehension (e.g., infants
develop throughout early childhood, with easier consonant sounds turn their heads to the object an adult is pointing at) and in production
maturing early, around age 3 (e.g., in English p, b, m, h, w) and dif- (e.g., a child saying “look at that dog over there,” then looking back at
ficult sounds (e.g., in English l, s, r, v, ch, th) maturing late, typically by their caregiver and expressing a desire for a dog). Conversation skills
around age 7. are important for forming relationships and especially strong social
bonds and friendships. As children reach school age and adolescence,
Development of the Lexicon, Morphology, and they develop nonliteral or figurative language skills (see Table 53.1),
Syntax including hints, idioms, metaphors, hyperbole, humor, and sarcasm.
It is difficult to pinpoint when in development children typically In lexical development, understanding often occurs before production;
understand their first word, but many children may say their first in children’s humor development, children’s production may precede
words by around 1 year; English-­speaking families in the United States full understanding of their meaning. Another notable milestone of

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 Chapter 53 u Language Development and Communication Disorders 325

Table 53.1  Definitions of Basic Terms in Communication, Language, and Speech

TERM DEFINITION EXAMPLES
Communication • Broad umbrella term that encompasses • Humans share ideas using verbal or signed speech
understanding and producing language, speech, and language
nonverbal communicative gestures, and written • Nonverbal communicative gestures include
language nodding one’s head up and down to convey “yes”
in some cultures
Language • Verbal, signed, written, or other systems that use • Verbal symbols include words (e.g., apple in
arbitrary but conventional, rule-­governed symbols English or manzana in Spanish, both of which
to communicate about objects, events, and ideas represent a red, tasty fruit)
in the past, present, and future • Signed symbols include the word apple in
American Sign Language, produced by the twist of
the knuckle of the index finger on the cheek
Speech • Perception of the meaningful units of sounds • Speech sounds or phonemes make a difference in
that comprise verbal language and production of meaning (e.g., b, p, a, i, and t affect the meaning
these sounds by coordinating the mouth, tongue, of bat, bit, pat, and pit)
airflow, and vibration of the vocal folds • Speech does not include all vocal sounds, such as
coughs or throat clearing
• Phonemes in sign language are based on spatial,
temporal features, such as hand shape
Receptive language • Hearing and understanding verbal or sign • Recognizing own name
language • Following two-­step directions
Expressive language • Speaking using verbal or sign language • Speaking first words or signs in a sign language
• Telling stories
Phonology • The system of relationships among speech sounds • Understanding seetheredball can be segmented
or phonemes that constitute a fundamental into see the red ball
component of language • Babbling, consonant-­vowel combinations that use
phonemes
Lexicon • All of the words or vocabulary of a person or a • The lexicon of the mathematician may vary from
language the lexicon of the lawyer
Morphology • Units of meaning that can be combined to form • In English dogs is made of two morphemes, dog
vocabulary and the plural -­s; untie is made of un-­and tie
Syntax • Grammar and word order to make sentences • In English word order, the dog chases the cat,
while in Hindi word order, the cat the dog chases
Pragmatics • Verbal and nonverbal communication skills that • Use of eye contact and gestures to make a point
govern how language and communication are forcefully
used in context • The timing and responsiveness between
• Includes intonation, facial expression, and body communication partners (e.g., engaging, responding,
language and maintaining reciprocal exchanges)
Nonliteral or figurative language • Meaning of a word or phrase that is not literal but • Hints (e.g., a teacher saying, “I think I hear children
skill understood in context talking”)
• Idioms (e.g., “Give me a hand”)
• Metaphor (e.g., “You are my sunshine”)
• Hyperbole (e.g., “That’s the biggest thing I’ve ever
seen!”)
Advanced language skills • Ability to listen, speak, read, write, and reason • Academic language
using language • Ability to debate and deliver speeches
Literacy skills • Skills required for reading and writing • Reading an alphabetic language requires
awareness of the sounds of language, print, and
the relationship between letters and sounds
• Spelling is a literacy skill
Bilingualism and multilingualism • Ability to speak and/or sign two or more • Ability to communicate verbally in Chinese and
languages English
• Ability to communicate verbally in English and to
use American Sign Language
• Ability to use Chinese, English, and American Sign
Language
Biliteracy and multiliteracy • Ability to read and write in two or more languages • Ability to read and write Chinese, Spanish, and
English
Phonologic processes • Errors in speech production that affect more than • Fronting, when a sound that should be made in
a single sound and are based on violations of the back of the mouth (cat) is made in the front of
predictable, rule-­based features the mouth (tat)
• Cluster reduction, when a consonant cluster (as in
stop) is reduced to a single consonant (top)

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326 Part IV u Learning and Developmental Disorders

Table 53.2  Speech, Language, and Communication Milestones from Birth to 5 Years, Based on Typically Developing Children
Acquiring a Single Verbal Language
HEARING AND UNDERSTANDING SPEAKING
BIRTH TO 3 MO
• Startles at loud sounds • Makes pleasure sounds (cooing, gooing)
• Recognizes voices and quiets if crying • Cries differently for different needs
• Turns head toward sounds
• Watches faces
• Quiets or smiles when spoken to
4-­6 MO
• Moves eyes in direction of sounds • Vocalizes differently to show excitement, being tired, or in pain
• Responds to changes in tone of voice • Makes sounds when alone and when playing
• Notices music and sounds • Makes babbling sounds that are speechlike and uses consonant
• Recognizes familiar people and things at a distance sounds, such as p, b, and m
• Reaches for toys or objects
• Engages in turn-­taking and protoconversations
7-­12 MO
• Listens when spoken to • Uses speech sounds or gestures to get and keep attention and to
• Turns and looks in direction of sounds respond to others
• Enjoys social games, such as peek-­a-­boo and pat-­a-­cake • Imitates different speech sounds and gestures
• Responds to own name • Babbles with long and short groups of sounds, such as bababa upup
• Recognizes words for common items, such as cup, shoe, and juice bibi, and mixes different syllables, such as badadeda
• Begins to respond to simple requests (Come here; Want more?) or • Says one or two words (bye-­bye, dada, mama)
No • Points to or shows things to spontaneously share interest with
• Looks when an adult points at something familiar people
• Uses gestures such as waving for hi and bye or shaking head for no
1-­2 YR
• Listens to simple stories, songs, and rhymes • Learns to say more words every month
• Follows simple commands and understands simple questions (Roll • Uses some one-­and two-­word questions (Where kitty? Go bye-­bye?
the ball; Kiss the baby; Where’s your shoe?) What’s that?)
• Points to things when asked or when named such as body parts and • Combines two words in their own ways (more cookie, no juice,
objects mommy book)
• Uses consonant sounds such as p, b, m, h, and w in English
2-­3 YR
• Understands differences in meaning (e.g., go–stop, in–on, big–little, • Often asks for or directs attention to objects by naming them
up–down) • Has a word for almost everything
• Follows two-­step requests (Get the book and put it on the table.) • Uses prepositions like in, on, and under
• Often uses two-­to three-­word “sentences”
• Speech is mostly understood by familiar listeners
• Uses consonant sounds such as k, g, f, t, d, and n in English
3-­4 YR
• Understands simple who, what, where, and why questions • Uses pronouns like I, you, me, we, and they
• Understands words for colors like red, blue, or green and shapes like • Uses sentences that have four or more words with more complex
circle or square grammar such as negative (I no want to) and questions
• Responds when you call from another room • Talks about activities outside the home
• Usually understood by people outside the family
4-­5 YR
• Hears and understands most of what is said at home and in school • Uses sentences that include details (I like to read my books) and
• Pays attention to a short story and answers simple questions about it different action words like jump or play; may still make some
• Understands words for time like yesterday, today, and tomorrow grammar mistakes (I gots one game and he got three games)
• Understands words for order like first, next, and last • Tells simple stories using mostly full sentences
• Follows longer directions such as (Find an animal you like, draw a • Communicates easily with other children and adults
circle around it, and bring the paper to me) • Says most sounds correctly except a few that are harder to say, such
as l, s, r, v, z, ch, sh, and th in English
Milestones may not apply to bilingual children, children exposed to sign languages, children learning a second language, and children with language and learning disorders
For Spanish translations and more information, including activities for families:
• American Speech-­Language-­Hearing Association: http://www.asha.org/public/speech/development/chart.htm
• The American Academy of Pediatrics: https://healthychildren.org/English/Pages/default.aspx
• Centers for Disease Control and Prevention Milestones checklist: https://www.cdc.gov/ncbddd/actearly/milestones/index.html
Adapted from the American Speech-Language-Hearing Association (2021), the American Academy of Pediatrics (2009), and the Centers for Disease Control and Prevention
Milestones checklist (2021).

pragmatic skills is the ability to adapt how to narrate events or stories expository speeches or to debate. Formal schooling also affords new
for different audiences (e.g., friends vs teachers). situations to communicate with a broader network of individuals,
including teachers, coaches, and supervisors. The diversity of the situ-
Advanced Language Skills ations requires nuanced attention to social rules and conventions and
Once children enter school, they continue to develop new vocabulary increases exposure to diverse forms of nonliteral language use, though
and use increasingly complex sentence constructions to communicate proficiency in the use of nonliteral language varies by the language
about abstract, hypothetical, and imaginary topics. By adolescence, and culture of the speaker and addressee. Finally, the introduction
many students in Westernized school systems are required to deliver of formal schooling presents children with the demands of acquiring

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 Chapter 53 u Language Development and Communication Disorders 327

Pragmatics
Protoconversations, social games Conversations Children’s
early language,
Watches faces, Joint attention, pointing, Asks for or directs others’ Narratives, scripts, story retell, speech, and
smiling showing attention to objects connected discourse communication
skills

Uses increasingly complex sentences with varying lengths

Lexicon
Produces Combines two words Uses more complex grammar Uses pronouns, questions,
morphology
first words in own ways such as –ing, -s, in, on, under negative statements
syntax
Understands own name, new words, Follows 2-step Understands questions and words for time,
responds to simple requests requests follows longer directions

Phonology Still developing more difficult

Babbling Uses consonant Uses consonant sounds
sounds such as p, b, sounds such as as l, s, r, v, Child age
Speech perception such as k, g, f, t, d, and n in English (months)
m, h, and w in English ch, and th in English

0 12 24 36 48 60

Provide positive interactions, follow into child’s focus of attention/interests,

use appropriately complex speech for child’s level of understanding
Caregiver
and educator
Engage with and imitate child’s Expose child to different words, different sentences, strategies
speech and gestures and varying sentence complexity to support
language
Ask questions, converse about the past and future, development
Provide warmth and
engage child about what they see, hear, feel, and think
responsiveness
in different situations

Fig. 53.1 Timeline of children’s early language, speech, and communication skills and caregivers’ and educators’ strategies to support that devel-
opment. The timing and width of boxes for the child skills are adapted from milestones from the American Speech-­Language-­Hearing Association,
The American Academy of Pediatrics, and the Centers for Disease Control and Prevention. More information on milestones can also be seen in Table
53.1. Caregivers and educators should be encouraged to engage with the child using the language with which they are most comfortable because
children, even children with delays, are capable of becoming bilingual. Specific child skills and caregiver/educator strategies may vary according to
language and cultural practices.

literacy skills (see Table 53.1), those skills required for reading and code-­switching, that is, alternating between languages, or code-­
writing. Early oral language skills are a robust predictor of children’s mixing, mixing their languages together, especially when speaking
early reading skills, and early oral language and reading skills are in with other bilingual speakers. A distinction between conversational
turn predictors of children’s writing skills (see Chapters 51 and 52.2). and academic language skills may be made in reference to bilinguals.
Language skills become critical to support high-­level school-­and Bilingual speakers may master conversational language, the language
work-­related literacy skills. used to communicate casually with family or friends, but remain less
skilled in academic language, the complex, technical, and special-
BILINGUALISM AND MULTILINGUALISM ized vocabulary and syntax required in academic or work settings,
Worldwide, learning more than one language is more common than particularly when school is presented in a language different from
learning just one; many regions and countries in the world are home the language of the home. Some bilingual learners may experience
to individuals who routinely speak two or more languages. The tim- language attrition, a reduction in the proficiency in one language
ing of exposure, balance between languages, and level of skill in each over time. Factors within the child, family (e.g., one caregiver/one
language in dual-­language or multilanguage learners varies across sit- language, caregivers speaking both languages), community (e.g.,
uations. Simultaneous bilinguals refers to those regularly exposed to availability of bilingual schooling, minority vs majority language of
both languages prenatally or from birth. Sequential bilinguals refers the community, perceived prestige of a language), and policy (e.g.,
to those exposed to the second language after the first language, often national acknowledgement of multiple languages or requirements of
when they enter school, though the timing of when the second lan- accessibility of documents in school or business sectors) contribute
guage is introduced varies. Once children learn two languages, the to proficiency in both languages.
balance in skill level between them may vary. For example, a child Bilingualism or multilingualism is typical language development for
who was born in Nigeria, exposed to Igbo, and then immigrated to many children and not an adequate explanation for language delays as
Greece at age 5 years will initially be more proficient in Igbo than in long as the child’s skills in both languages are assessed. Even children
Greek. As the child attends school in Greece, Greek proficiency will with language and developmental disorders, such as intellectual dis-
improve (likely also supported through the introduction of reading ability and autism spectrum disorder, may be successful bilingual or
and writing in a Greek monolingual school environment), and thus multilanguage learners. It is difficult to predict developmental trajec-
the balance will shift and the child may become more proficient in tories in bilingual development because of the wide variety of factors
Greek over Igbo. A high level of skill across all domains of phonol- associated with the level of skill in different domains. Children in homes
ogy, lexicon, syntax, and pragmatics is considered an ideal picture with two or more languages who show delays in language development
of bilingualism, but this ideal is not always the case or necessary (considering the accumulated accomplishments in all languages) should
for many bilingual learners. Bilingual learners often demonstrate be promptly referred for evaluation.

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328 Part IV u Learning and Developmental Disorders

DRIVERS OF VARIATION IN TYPICAL LANGUAGE skills than watchful waiting. Biologic sex differences have been found
DEVELOPMENT in many studies of language development. Though males are generally
Genetic slower to develop than females, the differences do not usually rise to
Similarities in language abilities across members of the same family the level of being clinically apparent. However, males are more likely
suggest that genetic factors contribute to individual differences in lan- to develop language disorders than females. Based on these findings,
guage abilities. Genetic factors have been studied more often in the children with moderate to severe delays in the development of language
context of disorders of language learning than in the context of normal and speech deserve a prompt evaluation, even if they are males, non–first
variation (see below). born children, twins, tongue-­tied toddlers, and/or children with chronic
otitis media.
Environment
Interactions between young children and their caregivers that are posi- LANGUAGE, SPEECH, AND COMMUNICATION
tive, responsive, and warm allow children to practice their early word DISORDERS
learning (e.g., social games, routines). Living in stable home environ- Impairment in language, speech, and communication may occur in
ments is better for language development than living in an unstable isolation or may be associated with other conditions.
condition. The Bucharest Early Intervention Project conducted a ran-
domized controlled trial to examine the role of being raised in a home Isolated Language Disorders with or Without
(foster care) versus in institutionalized care in Romanian orphanages Accompanying Speech Disorders
that were providing infants with low levels of responsive interactions. Clinical Presentation
Children taken from the orphanages and placed in foster care by age Primary disorders of speech and language development are significant
15 months had language skills that were similar to typically develop- difficulties found in the absence of major cognitive, sensory, or motor
ing peers at 30 and 42 months in the same Romanian community liv- dysfunction. The literature uses the term specific language impair-
ing with their biologic families; children placed in foster care after 24 ment (SLI) or language impairment, the term we use here, also called
months had persistent expressive language delays. developmental language disorder or developmental dysphasia. Chil-
The role of caregivers specifically is one of the few levers available dren with language impairment typically perform >1.25-­1.5 standard
to influence language outcomes in clinical practice and public pro- deviations below the mean on standardized language assessments. The
grams. Positive links have been found between variability in socioeco- Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition
nomic backgrounds and children’s later language skills; caregivers have (DSM-­5) criteria for a language disorder are provided in Table 53.3.
been shown to mediate this link. Caregivers’ child-­directed speech Many children with language impairment eventually become com-
refers to changes to caregivers’ prosody (intonation patterns), pho- petent language users, though they may show persistent and subtle
nology, grammar, and lexicon when engaging with young children. difficulties with skills related to phonology, lexicon, and/or syntax.
This child-­directed speech has been measured across a wide variety of As adolescents and adults, compared to peers, they are generally less
features, which can be broadly categorized into measures of quantity proficient at producing stories, descriptions, and scripts of everyday
(e.g., total number of words spoken), quality (e.g., number of differ- events, collectively known as oral narratives. Their narratives tend to
ent words spoken), and interaction (e.g., warmth and responsiveness). be shorter, including fewer prepositions, main story ideas, and devices
Taken together, these factors constitute language nutrition, which, fostering cohesion. Children with language impairment may have
like dietary nutrition, is associated with rates of growth. However, the significant difficulty in higher-­level language skills (see Table 53.1),
causal links between caregivers’ child-­directed speech and children’s reasoning skills (e.g., drawing correct inferences and conclusions),
language outcomes are still unclear in children with typical develop- the ability to take another person’s perspective, and the ability to para-
ment or language delays or disorders. Meta-­analyses of interventions phrase and rephrase. Some children with language impairment show
targeting improved language nutrition to date have generally reported difficulties with social interaction because social interactions are often
either null effects or small to moderate positive effects on children’s mediated by verbal language. Young children with language impair-
language skills. The specific role of book-­sharing interventions to sup- ment may interact more successfully with older children or adults, who
port children’s language development is also mixed among different can adapt their communication to match the child’s level of function,
meta-­analyses. Wide heterogeneity across intervention studies, includ- than with peers.
ing the method of delivery (e.g., one-­on-­one coaching vs caregiver
groups), intensity (e.g., 1 hour per week for 12 weeks vs two 45-­minute Epidemiology
visits), measures of caregiver-­child interaction, and child language Over 15% of 2-­year-­olds may not produce a vocabulary of 50 words or
outcomes, may contribute to differences in results. Caregivers’ mental two-­word utterances; estimates may vary for children exposed to two
health has been found to be an important mediator of child outcomes; or more languages. Almost half of preschool-­age children, age 3-­5 years
higher caregiver depression has been linked to poorer children’s lan- old, who qualify for special education meet eligibility based only on
guage outcomes. speech-­language impairment. By age 5, approximately 6% of children
Greater amounts of screen time and early age of screen time are are identified as having a speech impairment alone, 5% as having both
negatively related to children’s early language skills. However, high-­ speech and language impairment, and 8% as having language impair-
quality screen-­time practices (e.g., co-­viewing, educational programs) ment alone. Males are nearly twice as likely to have an identified speech
are positively related to children’s language skills; effect sizes are small or language impairment as females.
to moderate.
Etiology
Misattributions of Language Delay Genetic factors appear to play a major role in influencing how children
Several common conditions have been erroneously implicated as an learn to talk. A family history may identify current or past speech or
adequate explanation for language delays and disorders. Typically language problems in up to 30% of first-­degree relatives of proband
developing twins learn to talk at the same age as typically developing children. Concordance rate for low language test scores and/or a his-
single-­born children. Birth-­order effects on language development tory of speech therapy within twin pairs is about 50% in dizygotic
have not been consistently found. Ankyloglossia (tongue-­ tie), an pairs and 90% in monozygotic pairs. Consistent pathogenic genetic
extremely tight lingual frenulum, does not prevent the acquisition of variations have not been identified. Instead, multiple genetic regions
speech, but ankyloglossia may be the result of abnormalities associ- and epigenetic changes may result in heterogeneous genetic pathways
ated with disorders of speech, such as neural injury and cerebral palsy. causing language disorders. Several single-­nucleotide polymorphisms
Frequent ear infections and serous otitis media in early childhood do (SNPs) involving noncoding regulatory genes, including CNTNAP2
not result in persisting language disorder. Prompt placement of tym- (contactin-­associated-­protein-­like-­2) and KIAA0319, are strongly
panostomy tubes for chronic serous otitis media does not lead to better associated with early language acquisition and are also thought to

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 Chapter 53 u Language Development and Communication Disorders 329

affect early neuronal structural development. Several chromosomal in language and social skills (autistic regression) in approximately
copy number variants (see Chapter 96) have also been associated with 20–25% of children with ASD, usually between 12 and 36 months of
abnormalities of language and speech; these variants may be associ- age. The cause of the regression is not known; it is associated with an
ated with distinctive physical features (e.g., tall stature in Klinefelter increased risk for intellectual disability and severe ASD. Individu-
syndrome) or neurobehavioral conditions (e.g., autistic features). als with ASD who are high functioning may have large vocabularies
Environmental, hormonal, and nutritional factors may exert epigen- and use grammatically correct sentences but have unusual or impaired
etic influences by dysregulating gene expression. These forces result social-­pragmatic features, such as odd intonation patterns, off-­topic
in aberrant sequencing of the onset, growth, and timing of language comments, and atypical conversational skills. For example, they may
development. engage in long monologues about a topic of special interest, without
All of the family, community, and sociopolitical factors that appear considering the interest of their conversational partner. Some individ-
to contribute to variation in typical language learning may contribute uals with ASD have highly specialized, isolated, “savant” skills, such as
to the rate of learning in children with disorders. Improving the quality calendar calculations or hyperlexia (the precocious ability to recog-
of the verbal environment, and in particular the quantity and quality of nize written words beyond expectation based on general intellectual
child-­directed speech (see above), may moderate the impact of genetic ability).
and epigenetic factors. DSM-­5 identified social (pragmatic) communication disorder
(SPCD) as a category of communication disorder distinct from ASD
Pathogenesis (see Table 53.3). Symptoms of SPCD include extreme literalness and
Language functioning is widely distributed across the brain through inappropriate verbal and social interactions. Socially appropriate use
interconnected neural networks. Frank neurologic injury is typically and understanding of figurative language (see Table 53.1) depends on
absent in children with language impairment. Language disorders have correct interpretation of the meaning and the context of language and
been attributed to a fundamental difficulty in the brain’s capacity to the ability to draw proper inferences, skills limited in SPCD. SPCD has
process complex information rapidly. Limitations in the amount of been recognized as a symptom of a wide range of disorders, including
information that can be stored in verbal working memory (see Chapter right-­hemisphere brain injury and nonverbal learning disabilities.
49) may also limit the rate at which language information is processed.
Electrophysiologic studies show abnormal latency in the early phase of Hearing Impairment
auditory processing in children with language impairment. Neuroim- Hearing loss may be caused by a sensorineural loss, a conductive loss,
aging studies identify an array of anatomic abnormalities, implicated or a mixed picture in one or both ears. Although it is not possible to
in language processing. MRI scans in children with language impair- accurately predict the impact of hearing loss on a child’s verbal lan-
ment may reveal white matter lesions and volume loss, ventricular guage development, the type, degree, and laterality of hearing loss;
enlargement, focal gray matter heterotopia within the right and left the age of onset; and the duration of the auditory impairment before
parietotemporal white matter, abnormal morphology of the inferior amplification play important roles (see Chapter 55). Newborn screen-
frontal gyrus, atypical patterns of asymmetry of language cortex, or ing programs are designed to identify congenital hearing loss but fail to
increased thickness of the corpus callosum in a minority of affected identify children with progressive or acquired hearing loss or deafness
children. Postmortem studies of children with language disorders after birth. Any child who shows a speech or language problem should
found evidence of atypical symmetry in the plana temporale and corti- have a hearing assessment by an audiologist, even if they passed their
cal dysplasia in the region of the sylvian fissure. A high rate of atypical newborn hearing screen.
perisylvian asymmetries has been documented in the parents of chil- Conductive hearing loss occurs when sounds cannot get through
dren with language impairment. the outer and middle ear to stimulate the auditory nerve. In children,
the most common cause of conductive hearing loss is acute or chronic
Language Disorders Associated with Cognitive serous otitis media. Otitis media is typically transient and may increase
Impairment and Intellectual Disability the sound threshold at which children can detect tones or understand
Speech and language impairment may be the first indication of a language. Persistent fluid in the middle ear may be treated with tympa-
global neurodevelopmental disorder. Global developmental delay or nostomy or ventilation tubes. However, treatment of chronic serous
early developmental impairment is defined as delays in two or more otitis media with tympanostomy tubes does not improve outcomes in
domains. Children with substantial delays in adaptive function and the domains of speech and language, cognition, academic skills, or psy-
scores 2 or more standard deviations below the mean on intelligence chosocial functioning from preschool years through middle childhood.
testing may meet criteria for intellectual disability (see Chapter 56).
Most children with a mild intellectual disability learn to communi- Neurologic Conditions
cate adequately, though they are likely to encounter difficulties with Epilepsy Syndromes
higher-­level language skills (see Table 53.1). Children with an IQ as Children with Landau-­Kleffner syndrome or verbal auditory agnosia
low as 25 may eventually acquire a small lexicon and ability to combine have a history of typical language development until they experience
words. Specific genetic syndromes have distinctive language profiles: a regression in their ability to comprehend spoken language—verbal
in Down syndrome, verbal skills are more impaired than nonverbal auditory agnosia—along with the development of seizures, usually
skills; in William syndrome, language skills may be relatively preserved between 3 and 7 years of age. Expressive language skills also typically
compared to nonverbal skills; in fragile X syndrome, unusual word or deteriorate. An electroencephalogram (EEG) may show a distinct pat-
sound repetition may be present. tern of status epilepticus in sleep (continuous spike wave in slow-­wave
sleep), and up to 80% of children with Landau-­Kleffner syndrome
Autism Spectrum Disorder eventually exhibit clinical seizures. Use of antiepileptic medication,
A disordered pattern of language, speech, and communication devel- corticosteroids, and intravenous gamma globulin has led to varying
opment characterizes autism spectrum disorder (ASD) (see Chapter results. The prognosis for return of typical language ability is uncertain,
58). The core characteristics of ASD are persistent difficulties in social even if seizures resolve.
communication and social interaction relative to age expectations and Epileptic interictal discharges are more frequently found on EEGs of
restricted, repetitive patterns of behavior, interests, or activities. Chil- children with language impairments than EEGs of otherwise typically
dren with ASD show a wide range of language and communication developing children. The discharges are likely a manifestation of an
abilities. At the severe end, language and speech may be extremely underlying disorder of brain, distinct from the language impairment.
limited (nonverbal). Approximately 30–50% of children with ASD also Only when seizure symptoms or regression in language ability is pres-
meet criteria for intellectual disability, which contributes to the chal- ent is a routine EEG recommended in the evaluation for a child with
lenges of developing communication skills. Parents report regression speech and/or language impairment.

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330 Part IV u Learning and Developmental Disorders

Table 53.3  DSM-­5 Diagnostic Criteria for Communication Disorders

LANGUAGE DISORDER SOCIAL (PRAGMATIC) COMMUNICATION DISORDER
A. Persistent difficulties in the social use of verbal and nonverbal
A. Persistent difficulties in the acquisition and use of language across communication as manifested by all of the following:
modalities (i.e., spoken, written, sign language, or other) due to
deficits in comprehension or production that include the following: 1. Deficits in using communication for social purposes, such as
greeting and sharing information, in a manner that is appropriate
1. Reduced vocabulary (word knowledge and use). for the social context.
2. Limited sentence structure (ability to put words and word 2. Impairment of the ability to change communication to match
endings together to form sentences based on the rules of context or the needs of the listener, such as speaking differently
grammar and morphology). in a classroom than on a playground, talking differently to
3. Impairments in discourse (ability to use vocabulary and connect a child than to an adult, and avoiding use of overly formal
sentences to explain or describe a topic or series of events or language.
have a conversation). 3. Difficulties following rules for conversation and storytelling,
B. Language abilities are substantially and quantifiably below those such as taking turns in conversation, rephrasing when
expected for age, resulting in functional limitations in effective misunderstood, and knowing how to use verbal and
communication, social participation, academic achievement, or nonverbal signals to regulate interaction.
occupational performance, individually or in any combination. 4. Difficulties understanding what is not explicitly stated (e.g.,
C. Onset of symptoms is in the early developmental period. making inferences) and nonliteral or ambiguous meanings of
D. The difficulties are not attributable to hearing or other sensory language (e.g., idioms, humor, metaphors, multiple meanings
impairment, motor dysfunction, or another medical or neurologic that depend on the context for interpretation).
condition and are not better explained by intellectual disability B. The deficits result in functional limitations in effective communication,
(intellectual developmental disorder) or global developmental delay. social participation, social relationships, academic achievement, or
SPEECH SOUND DISORDER occupational performance, individually or in combination.
A. Persistent difficulty with speech sound production that interferes C. The onset of the symptoms is in the early developmental
with speech intelligibility or prevents verbal communication of period (but deficits may not become fully manifest until social
messages. communication demands exceed limited capacities).
B. The disturbance causes limitations in effective communication D. The symptoms are not attributable to another medical or neurologic
that interfere with social participation, academic achievement, condition or to low abilities in the domains of word structure and
or occupational performance, individually or in any grammar and are not better explained by autism spectrum disorder,
combination. intellectual disability (intellectual developmental disorder), global
C. Onset of symptoms is in the early developmental period. developmental delay, or another mental disorder.
D. The difficulties are not attributable to congenital or acquired
conditions, such as cerebral palsy, cleft palate, deafness or hearing
loss, traumatic brain injury, or other medical or neurologic
conditions.
From the Diagnostic and Statistical Manual of Mental Disorders, 5th ed. Washington, DC: American Psychiatric Association; 2013:42, 44, 47–48.

Cerebellar Mutism Syndrome peroxisomal disorders (adrenal leukodystrophy), ceroid lipofusci-

In the aftermath of operations for tumors in the posterior fossa, such as nosis (Batten disease), and mucopolysaccharidosis (Hunter disease,
medulloblastoma, many children lose the ability to speak. Fortunately, Hurler disease). A creatine transporter deficiency was identified as an
though the presentation is initially profound, most children recover the X-­linked disorder that manifests with language delay in males and with
ability to use language. Cerebellar mutism syndrome demonstrates mild learning disability in female carriers.
that the cerebellum probably plays a fundamental role in language and
communication. The syndrome is thought to result from damage to the Hydrocephalus (see Chapter 631.11)
superior cerebellar peduncle that connects the cerebellum to language Children with hydrocephalus may be described as having cocktail-­
centers in the frontal lobes. party syndrome. In this syndrome, children may use sophisticated
words, but their comprehension of abstract concepts is limited, prag-
Stroke matic conversational skills are weak, their analyses are superficial, and/
Strokes in childhood can occur prenatally, in the perinatal period, or at or they appear to be carrying on a monologue.
any time in childhood. As in adults, a brain territory frequently affected
is supplied by the middle cerebral artery resulting in damage to the left Language in the Context of Psychologic or Mental
frontal and temporal lobes that are associated with language function Health Conditions
in adults. However, young children with stroke show greater plasticity Selective Mutism
of language function than do adults with similar brain injuries. Many In selective mutism, children do not speak in specific social situations,
children with left hemisphere stroke go on to demonstrate typical or such as school or other settings outside the home, though they speak
near-­typical language functions. Functional imaging studies document normally in certain settings, such as within their home or when they
that these children activate uninjured regions of the left hemisphere are alone with their parents. Other symptoms include excessive shy-
around the stroke or homologous regions in the right hemisphere. ness, withdrawal, dependency on parents, and oppositional behavior.
This demonstrates that though under usual circumstances the left Most cases of selective mutism are the manifestation of a chronic pat-
hemisphere serves language, alternative networks can substitute in the tern of anxiety. Children with selective mutism often report that they
case of early injury. The quality of the home language environment is want to speak in social settings but are too afraid, worried, or distressed
strongly associated with the language skills of children with strokes. to do so. The family history is often positive for anxiety symptoms.
Children with selective mutism may also have a language or speech
Metabolic and Neurodegenerative Disorders (see impairment, contributing to their sense of distress in speaking. Treat-
Part IX and Chapter 639) ment of selective mutism generally uses evidence-­based approaches to
Regression of language development may accompany loss of neuromo- reducing general anxiety, including cognitive-­behavioral therapy and/
tor function at the outset of a number of metabolic diseases, includ- or selective serotonin reuptake inhibitors in conjunction with speech-­
ing lysosomal storage disorders (metachromatic leukodystrophy), language therapy.

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 Chapter 53 u Language Development and Communication Disorders 331

Schizophrenia cleft palate need long-­term therapy with a speech-­language patholo-

A characteristic of schizophrenia is abnormal communication, includ- gist (SLP). Cleft palate may occur in isolation, called nonsyndromic
ing highly disorganized language that is difficult to follow and frequent cleft palate, or in conjunction with other malformations, called syn-
changes in topic (see Chapter 47.1). This communication challenge dromic cleft palate. Velocardiofacial syndrome (VCFS) is an autoso-
accompanies the thought disturbance that is the hallmark of schizo- mal dominant condition that results from a deletion on the long arm
phrenia. Schizophrenia usually presents in individuals in adolescence of chromosome 22 (deletion22q11) and may include cleft palate. Many
or young adulthood. The communication disorder is linked to other different phenotypes are associated with this deletion, demonstrating
features of schizophrenia, including slower processing speed, poorer the complex relationship of genes, anatomic structure, and function.
cognitive control, and weaker working memory relative to typically The prognosis for speech and language in such cases is dependent on
developing peers. the specific syndrome associated with the cleft palate.

Adverse Psychosocial Conditions Velopharyngeal Insufficiency

Orphanages Velopharyngeal insufficiency (VPI) is an abnormality of the soft pal-
An estimated 8 million children worldwide are living in residential ate, such that the soft palate cannot regulate the flow of air between
care or orphanages, despite recognition of the severe adverse impacts the mouth and nose in speech. It may occur as part of cleft palate or
of institutionalization on children’s health and development. Children may be an isolated finding. VPI may not be apparent in early develop-
in orphanages have poor receptive and expressive language skills, most ment when the adenoids are large and bolster the soft palate. As the
likely the result of limited language exposure and lack of consistent adenoids regress, it may become clear that the soft palate is not clos-
warm relationships with caring adults. Children from orphanages may ing off the passage to the nose, creating hypernasal speech. Evaluation
be adopted. In an international adoption, the children typically face a of the intactness of the soft palate is important before adenoidectomy
new challenge: learning a different language (see Chapter 9). Outcomes because removal of the adenoids can bring on VPI suddenly. Surgery or
for internationally adopted children are mixed; meta-­analyses suggest use of prosthetic devices may be required for individuals who cannot
trends for stronger language outcomes when children are adopted be helped by speech therapy.
before the age of 1 year than after 1 year. However, findings were not
statistically significant, likely because of the wide variety of challenges Speech Sound Disorders
that the children face and difficulty identifying appropriate comparison Speech sound disorders is an umbrella term that refers to difficulties
groups. with perception, motor production, or phonologic representation of
speech sounds and/or speech segments (see Table 53.3). Speech sound
Foster Care disorders may be organic in origin, including neurologic conditions,
Approximately 30–75% of the children 6 years of age or younger in structural conditions, or sensory conditions. Speech sound disorders
foster care are delayed, and therefore assessing language skills for are considered functional when no known cause can be identified.
them is imperative (see Chapter 10). An important contribution to Speech sound disorders may be accompanied by subtle difficulties in
the language delay in many children in foster care, like that of children speech perception.
in orphanages, is the lack of consistently warm, responsive parenting
that is fundamental to language nutrition. Encouraging foster parents Phonologic Disorders
to increase language nutrition may positively affect the language skills Phonologic disorders are functional speech sound disorders that affect
of children in foster care. linguistic aspects of speech. Phonologic processes (see Table 53.1) are
errors in speech production based on violations of predictable, rule-­
High-­Stress, Low-­Verbal Environments based features of speech. These phonologic processes are typical at
Children from homes where they may experience stressors, such as young ages and resolve at specific ages. Phonologic processes become
food insecurity, housing insecurity, poor childcare facilities, and high disorders when they persist to older ages and impair intelligibility.
levels of community violence, are at risk for slower language develop-
ment relative to peers in stable environments. All of these factors may Articulation Disorders
contribute to initial delays in physical and cognitive development, Articulation disorders focus on errors (such as distortions and sub-
with language development being one of the most noticeable to track stitutions) in production of individual speech sounds regardless of
developmental progress. If language delays persist, the chances that the where in a word or phrase the sound occurs. Articulation errors are
children will catch up with others from more resourced environments, not the result of neuromotor impairment, but rather seem to reflect an
even if their circumstance change, are limited. Thus, what begins as inability to correctly process the words they hear. As a result, they lack
a delay may end up as a disorder. Referral of children from stressed, understanding of how to fit sounds together properly to create words.
low-­verbal environments to public and community-­based prevention Children with articulation or other speech sound disorders are at risk
programs designed to provide stability and to enhance language input for later reading and learning disability.
may improve the children’s outcomes.
Childhood Apraxia of Speech
SPEECH DISORDERS In childhood apraxia of speech (CAS), difficulty in planning and coor-
Structural Anomalies of the Organs of Speech dinating movements for speech sound production results in inconsis-
Cleft Lip and Palate tent distortions or errors of speech sounds, even vowel sounds. The
Cleft lip is a split in the formation of the lip. Cleft palate is a split in the same word may be pronounced differently each time, making intel-
hard and/or soft palate (see Chapter 356). These conditions often occur ligibility poor. Intelligibility also tends to decline as the length and
together but may occur separately. Cleft lip or palate is the most com- complexity of the child’s speech increase. Consonants may be deleted
mon structural abnormality at birth in the United States. The cleft is and sounds transposed. As they try to talk spontaneously or imitate
often easy to see but may be subtle if isolated to the soft palate. A child others’ speech, children with CAS may display oral groping or strug-
with isolated cleft lip may have minimal speech problems. A child with gling. Children with CAS frequently have a history of early feeding
cleft palate is likely to have speech difficulties, including hypernasal difficulty, limited sound production as infants, and/or delayed onset
speech in which air escapes through the nose, making it difficult to of spoken words. They may point, grunt, or develop an elaborate ges-
produce consonants that need pressure to build in the mouth for proper tural communication system in an attempt to overcome their verbal
execution (e.g., b, k, and s). In addition, children with cleft palate may difficulty. Apraxia may be limited to verbal motor skills, may extend
have severe and persistent serous otitis media, leading to moderate to to oral-­motor function, or may be a more generalized problem affect-
severe conductive hearing loss beyond the frequency and complica- ing fine and/or gross motor coordination. Childhood apraxia of speech
tions of children with an intact palate. Therefore most children with may co-­occur with disorders of language and learning.

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332 Part IV u Learning and Developmental Disorders

Dysarthria evaluation, including an assessment of social skills, a speech-­language

This motor speech disorder often originates from neuromotor disor- evaluation, an audiologic assessment, and a pediatric examination.
ders, such as cerebral palsy, muscular dystrophy, myopathy, and facial
palsy. Dysarthria is characterized by lack of strength and muscu- Psychologic or Neurodevelopmental Evaluation
lar control and manifests as slurring of words and distorting vowels. The two main goals for the psychologic evaluation of a young child
Speech patterns are often slow and labored. Feeding difficulty, drool- with a communication disorder are to assess nonverbal cognitive ability
ing, open-­mouth posture, and protruding tongue may accompany the and social skills. A broad-­based cognitive assessment is important to
dysarthric speech. determine the breadth and severity of developmental difficulties. At a
minimum, the child should have an assessment of both verbal and non-
Disorders of Fluency, Voice, and Resonance verbal skills. As children reach school age, they may be assessed with an
Stuttering intelligence test and an assessment of adaptive function to determine if
Under normal circumstances, most people do not speak smoothly all they meet criteria for intellectual disability (see Chapter 56). If the child
the time, but rather repeat words or sounds, hesitate to find a word, has findings of global developmental delay or intellectually disability,
pause, add “uh” or “you know” to the flow of speech, or repeat a sound their language and speech skills should be evaluated within that con-
or word more than once. These disruptions are called dysfluencies text. Language and speech disorders may coexist with other conditions,
and are discussed further in Chapter 53.1. Stuttering in children over so that the psychologic evaluation at all ages should consider mental
age 4 that lasts longer than 6 months, includes repetition of individual health conditions, such as anxiety, mood disorder, and attention-­deficit/
sounds, and/or creates emotional distress should be evaluated by a hyperactivity disorder (ADHD) and, at older ages, learning challenges.
speech and language pathologist. A child’s social behaviors must be assessed to determine whether the
child meets diagnostic criteria for ASD (see Chapter 58). Children with
Voice language impairment may display an interest in social interaction, even
A voice disorder is an abnormality in voice quality, pitch, and loud- if they may have difficulty socializing because of limitations in com-
ness that is unexpected or inappropriate for an individual’s age, gender, munication skills, such as difficulties initiating conversation or taking
cultural background, or geographic location. Voice disorders can be turns. Children with ASD do not display social interest in typical ways.
subdivided into organic and functional. Organic voice disorders are However, the distinction may be challenging in the context of a clini-
physiologic in nature and result from alterations in respiratory, laryn- cal evaluation when the child needs to interact only with professional
geal, or vocal tract mechanisms. Aerodigestive disorders cover con- adults and not with peers. Observational tests include specific maneu-
genital or acquired conditions of the aerodigestive tract; they include vers, such as calling the child’s name, making exaggerated gestures, and
abnormalities of the airway (pharynx and larynx), pulmonary tract attempting to engage the child in a reciprocal interaction around blow-
(trachea, bronchi, and lungs), and upper digestive tract (esophagus). ing bubbles, to make this distinction.
These structural problems may affect respiratory and swallowing func-
tions and speech, especially voice. Functional voice disorders result Speech and Language Evaluation
from improper or inefficient use of the vocal mechanism in the con- A certified SLP should perform a speech and language evaluation on
text of normal physical structure. Psychologic stress can also lead to a child with delays or difficulties in language and speech. A typical
habitual and maladaptive voice quality, known as psychogenic voice evaluation includes assessment of language, speech, and the physical
disorders. These categories may overlap. Vocal nodules result from mechanisms associated with speech production. Both expressive and
behavioral voice misuse that leads to repeated trauma to the vocal folds receptive language (see Table 53.1) are assessed, using a combination of
and structural changes to the vocal fold tissue. standardized measures, informal interactions, and pertinent observa-
tions. All components of language are assessed, including phonology,
ASSESSMENT OF LANGUAGE AND SPEECH lexicon, morphology, syntax, and pragmatics (see Table 53.1). Speech
DISORDERS assessment similarly uses a combination of standardized measures and
Screening informal observations and includes assessment of speech sounds, flu-
Developmental surveillance at each well-­child visit should include spe- ency, voice, and resonance. Assessment of physical structures includes
cific questions about typical language developmental milestones and oral structures and function, respiratory function, and vocal quality.
observations of the child’s behavior. Clinical judgment, defined as elic-
iting and responding to parents’ concerns, can detect many children Audiologic Assessment (see Chapter 677)
with speech and language challenges. The American Academy of Pedi- In many settings, an SLP works in conjunction with an audiologist,
atricians (AAP) recommends clinicians employ standardized develop- who can do an appropriate hearing evaluation of the child. If an audiol-
mental screening questionnaires and observation checklists at select ogist is not available in that setting, a separate referral should be made.
well-­child visits (see Chapter 28). However, the U.S. Preventive Ser- No child is too young for a hearing evaluation. Passive methods can be
vices Task Force reviewed screening for language impairment in young used in children who are young or unable to cooperate with testing.
children in primary care settings and found inadequate evidence to Repeat assessment with an active assessment can be accomplished at
support screening in the absence of parental or clinician concern about older ages. A referral for full hearing evaluation is appropriate when-
children’s speech, language, hearing, or development. At present, when ever there is suspicion of language or speech impairment.
parents, other caregivers, or physicians are concerned about speech or
language development, the child should be referred for a diagnostic Pediatric Evaluation
evaluation and intervention. History and physical examination should focus on the identification
of potential contributors to the child’s language and communication
Diagnostic Evaluation difficulties. A family history of delay in talking, need for speech and
A developmental delay indicates abnormally slow timing relative language therapy, or academic difficulty can suggest a genetic predis-
to same-­age peers in the development of the skill. A language delay position to language disorders. Pregnancy history might reveal risk
becomes a language disorder when it persists to school age; is func- factors for prenatal developmental anomalies, such as polyhydramnios
tionally impactful in terms of communication, social skills, or learn- or decreased fetal movement patterns. Small size for gestational age
ing and cognition; or is qualitatively different from normal patterns or at birth, symptoms of neonatal encephalopathy, or early and persis-
sequences of development. Language and communication skills should tent oral-­motor feeding difficulty may presage speech and language
be interpreted within the context of that child’s overall cognitive, social, difficulty. Developmental history should focus on the age when vari-
and physical abilities. A multidisciplinary evaluation of a child with ous language skills were mastered and the sequences and patterns of
language delay or disorder is often warranted. At a minimum, the diag- milestone acquisition. Regression or loss of acquired skills should raise
nostic evaluation should include psychologic or neurodevelopmental immediate concern.

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 Chapter 53 u Language Development and Communication Disorders 333

Physical examination should include measurement of height United States, to describe when an individual is struggling to express
(length), weight, and head circumference, even in children over age 2 themself and may speak in a halting manner. Stammering is used in
years. The skin should be examined for lesions consistent with phakom- the United Kingdom in place of stuttering (Table 53.4). It is important
atosis (see Chapter 636). Anomalies of the head and neck, such as white for clinicians to have a general understanding about what stuttering is
forelock and hypertelorism (Waardenburg syndrome), ear malforma- and when to counsel and refer families to speech-­language pathologists
tions (Goldenhar syndrome), facial and cardiac anomalies (Williams (SLPs). It is important to distinguish between stuttered and nonstut-
syndrome, VCFS), retrognathism of the chin (Pierre Robin anomaly), tered dysfluencies and other fluency disorders and to identify concom-
or cleft lip/palate, are associated with hearing and speech abnormali- itant symptoms.
ties. Neurologic examination might reveal muscular hypertonia or
hypotonia, both of which can affect neuromuscular control of speech. DIAGNOSIS
Generalized muscular hypotonia, with increased range of motion of In the Diagnostic and Statistical Manual for Mental Disorders, Fifth Edi-
the joints, is frequently seen in children with language impairment. tion (DSM-­5), the term stuttering has been removed from the diagnos-
The reason for this association is not clear, but it might account for the tic classification, and the disorder is referred to as childhood-­onset
fine and gross motor clumsiness often seen in these children. How- fluency disorder (Table 53.5). Note that impact on functional behav-
ever, mild hypotonia is not a sufficient explanation for the impairment ior is a component of the psychiatric diagnosis. In contrast, commu-
of receptive and expressive language. Language impairment may be a nication disorder specialists would consider anxiety and avoidance
component of a syndrome or other recognizable condition. The physi- of various activities as concomitant symptoms, but not necessarily a
cal examination gathers information to make other diagnoses. requirement for the diagnosis of stuttering.
No routine diagnostic studies are indicated for isolated language dis- Child-­onset stuttering (formerly known as developmental stut-
orders with the exception of the hearing assessment. When language tering) is a speech disorder that often begins in the preschool period
delay is a part of a generalized cognitive or physical disorder, referral
for further genetic evaluation, genetic testing (e.g., fragile X testing,
microarray, whole exome or whole genome sequencing), neuroimag-
ing studies, and EEG should be considered. Table 53.4  Terminology Related to Childhood-­Onset
Fluency Disorder
Treatment of Language and Speech Disorders TERM DEFINITION
Disorders of language and speech are often treated by SLPs working
alone or as part of a multidisciplinary team with others, such as early Stuttering A speech disorder manifested through abnormal
speech patterns referred to as dysfluencies
intervention specialists or occupational therapists. SLPs may work in
hospital in-­patient and out-­patient settings. More commonly, they Childhood-­onset Term used in DSM-­5 that is synonymous with
work in schools and early intervention programs. The nature and inten- fluency disorder stuttering
sity of treatment are predicated on the nature and cause of the language Stammering The clinical term used in the United Kingdom
or speech disorder and the explicit objectives of treatment. Childhood rather than stuttering; stammering also used
apraxia of speech typically requires that the child participate in four or informally to describe halting speech
five short sessions per week to achieve intelligible speech, whereas lan-
guage impairment disorder may require once-­or twice-­weekly therapy Cluttering A speech disorder characterized by an
excessively rapid and irregular rate of speech
in a peer-­group setting to increase communicative attempts. Speech-­
language therapy for young children is typically play-­based. Even drills Dysfluency Speech disruptions that can occur in normal or
are couched in naturally occurring, enjoyable, or fun activities. Group disordered speech
therapy with other young children is often well suited to children with
language and communication disorders because children practice their
emerging skills with peers in naturalistic settings. A strong family com-
ponent to therapy is important to leverage the limited time that thera- Table 53.5  DSM-­5 Diagnostic Criteria for Childhood-­Onset
pists can spend with children. Caregivers can be taught to use effective Fluency Disorder
techniques designed to meet the objectives of the treatment program.
For children who do not develop useful verbal language, the SLP may A. Disturbances in the normal fluency and time patterning of speech
consider the use of assistive and augmentative communication (AAC; that are inappropriate for the individual’s age and language skills,
see Chapter 54), which may use high-­technology devices, such as persist over time, and are characterized by frequent and marked
occurrences of one (or more) of the following:
voice-­generating computer programs, or low-­ technology solutions,
1. Sound and syllable repetitions.
such as sign language or picture exchanges. The use of AAC allows the
nonverbal child to communicate within the human community. Sev- 2. Sound prolongations of consonants and vowels.
eral systematic reviews and meta-­analyses provide compelling data 3. Broken words (e.g., pauses within a word).
that speech-­language therapy is effective for improving many aspects 4. Audible or silent blocking (filled or unfilled pauses in speech).
of language and speech. Therefore a timely referral for treatment with 5. Circumlocutions (word substitutions to avoid problematic
an SLP is recommended over watchful waiting for many children with words).
delays and disorders of language and speech. 6. Words produced with an excess of physical tension.
7. Monosyllabic whole-­word repetitions (e.g., “I-­I-­I-­I see him”).
Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography. B. The disturbance causes anxiety about speaking or limitations in
effective communication, social participation, or academic or
occupational performance, individually or in any combination.
C. The onset of symptoms is in the early developmental period.
53.1 Childhood-­Onset Fluency Disorder Note: Later-­onset cases are diagnosed as 307.0 [F98.5] adult-­onset
Kenneth L. Grizzle and Karolyn Mirasola fluency disorder.
D. The disturbance is not attributable to a speech-­motor or sensory
Dysfluent speech describes speech, language, and voice behaviors that deficit, dysfluency associated with neurologic insult (e.g., stroke,
interrupt the production and fluency of sounds, words, and thoughts. tumor, trauma), or another medical condition and is not better
explained by another mental disorder.
All speakers produce dysfluent speech, but not all dysfluent speech is
stuttering. The words stuttering, stammering, and dysfluency are often From the Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Washington,
used interchangeably. Stutter is used informally, particularly in the DC: American Psychiatric Association; 2013:45–46.

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334 Part IV u Learning and Developmental Disorders

and is not associated with stroke, traumatic brain injury, or other pos- especially ones that occur with newer or unfamiliar people (e.g., order-
sible medical conditions. Stuttering behaviors can occur in typically ing at a restaurant, calling a store to ask about store hours, introducing
developing children who do not have a speech disorder and in this oneself). Along with their own feelings interfering with speech produc-
situation are more accurately referred to as developmental dysfluencies. tion, the reactions of those around them may also increase the anxiety
During the toddler and preschool years, children often produce repeti- of children who stutter. Negative interactions or comments may inhibit
tion of sounds, syllables, or words, particularly at the beginning of sen- a child’s future attempts to interact verbally with another person or in a
tences (normal dysfluencies). These developmental dysfluencies occur group setting. Consider also the potential social challenges associated
between the ages of 2.5 and 4 years old when the language, motor, and with entering a classroom for the first time, transitioning to middle/
emotional systems are developing. These dysfluencies may occur as the high school/college, beginning a job, dating, and so on. Not surpris-
child struggles to try to express more complex ideas in a rapid and ingly, just as avoiding production of a perceived sound or word is
precise manner. common, avoidance of situations and people is a common way of cop-
Child-­onset stuttering disorder also typically begins between 2 and ing with the anxiety created by the fear of stuttering. These avoidance
4 years of age. Onset of symptoms varies from pronounced stuttering behaviors indicate a need for intervention.
within a few days to gradual worsening of symptoms across months.
Symptoms may ebb and flow, including disappearing for weeks before Differential Diagnosis
returning, especially among young children. From 40% to 75% of Although many dysfluencies are often referred to as stuttering, it is
young children who stutter will stop spontaneously, typically within important to recognize that there are different types of fluency disor-
months of starting. Although predicting which child will stop stutter- ders. Cluttering is a fluency disorder that may occur with or separate
ing is difficult, risk factors for persisting include stuttering for >1 year, from stuttering but is different in form and cause. Stuttering and clut-
continued stuttering after age 6 years, and experiencing other speech tering have been identified to exist on a continuum. Unlike stutter-
or language problems. Additionally, certain types of dysfluencies are ing, for which distinct episodes can be identified and even counted,
typically seen only in child-­onset stuttering disorder. cluttering affects the entire speech output and is often diagnosed
around age 7 years or later. In addition to elevated repetitions of par-
Types of Dysfluencies tial words (as in stuttering), whole words, and phrases, those who
Dysfluencies interrupt the normal flow of speech through repeated clutter show speech bursts that are often choppy, and articulation can
or prolonged sounds, syllables, or words. Types of dysfluency that be slurred and imprecise. In addition, there is often an increase in
are not exclusive to children who stutter include interjections (“well, disorganization of their language, unusual prosody, and listener per-
uhh, umm”), hesitations (pause), revisions (“I thought . . . I mean”), ception of a fast rate of talking. The level of awareness of how their
and phrase repetitions (“Did you say—Did you say”). In addition, the speech affects those listening, unlike children who stutter, is mini-
perspective of the speaker and cause of the dysfluency differ between mal for those who clutter. In fact, children with a cluttering disorder
true stuttering disorders and other types of dysfluency. The dysfluen- often experience a decrease in their dysfluent behaviors when they
cies might sound the same but occur for different reasons. For example, are speaking in front of a group because of an increased focus on
a typically developing child with dysfluency may talk around a word or their speech, whereas the impact for children who stutter is exactly
use a completely different word because of issues with word retrieval, the opposite.
complex thought formulation, or distractibility. But for children who In addition to cluttering, neurogenic (result of a stroke, head trauma,
stutter, they may talk around a word or retrieve a completely different or other neurologic damage) and psychogenic (associated with psycho-
word because even though they know exactly what they want to say, logic trauma) stuttering also exist, though they rarely occur in child-
they are unable to produce or “get” the sounds out. This highlights the hood. Stuttering can also be confused with dysfluent speech that occurs
notion that stuttering is about more than what the listener observes. for other neurologic reasons (e.g., Tourette syndrome, cerebral palsy,
The “moment of stuttering” is different because something occurs that spasmodic dysphonia).
only the person who stutters can perceive.
Dysfluencies that occur in child-­onset stuttering vary in type, fre- Epidemiology
quency, and longevity. Specifically, children who stutter show greater Approximately 5% of children experience stuttering, with the high-
part-­word repetition (“b-­b-­b-­b-­but”), single-­syllable word repetition est rates among young children. Seldom does a child begin stuttering
(“My, my, my”), sound prolongation (“MMMMMM-­an”), and in more before 2 years of age or after 12 years; in fact, the mean age of onset is
severe cases, blocking. Blocking is a dysfluent behavior that is iden- 2-­4 years, and most children stop stuttering within 4 years of onset.
tified by a fleeting or sometimes lengthy blockage of the flow of air Symptoms will disappear within 4 weeks for a minority of children.
at the level of the vocal folds or articulators (tongue, teeth, and lips). Stuttering is more common in males than in females, and the magni-
Typically, the child has initiated an articulatory posture (tongue is in tude of the difference increases as children get older. The ratio among
the position to produce “k”), but she is unable to release any air and/ children <5 years is approximately 2:1 and jumps to 4:1 among adoles-
or phonation (i.e., voice). Often in response to this inability to pro- cents and young adults.
duce sounds or words, the child will develop secondary behaviors that
recruit movement from other parts of the body that the child feels they Genetics
have more “control” over. There is convergent evidence of a genetic link for childhood-­onset flu-
These types of behaviors and movements exist only within child-­ ency disorder. Concordance rates among monozygotic twins range
onset stuttering disorder. They are referred to as secondary charac- from 20% to 83%, and for dizygotic twins, 4–19%. Family aggregation
teristics, or physical concomitants that often occur as a response to studies suggest increased incidence of approximately 15% among first-­
stuttering. Common secondary characteristics include movements of degree relatives of those affected, three times higher than the 5% rate
the head (head turning or jerking), face (eye blinking/squinting, gri- for the general population. The variance in risk for stuttering attributed
macing, opening or tightly closing the jaw), neck (tightening), and to genetic effects is high, ranging from 70% to 85%. Although evidence
limbs (stomping feet, slapping hand); an increase in body tension; and is limited, stuttering appears to be a polygenic condition, and several
irregular patterns of inhalations and exhalations. genes increase susceptibility.

Emotional Symptoms and Stuttering Brain Structure and Function

Fear and anxiety are emotional symptoms associated with stutter- Brain structure and function abnormalities found among individu-
ing. Many people experience some level of fear and anxiety related to als who stutter include deficits in white matter in the left hemisphere,
speaking in front of a group, but children who stutter often experi- overactivity in the right cortical region, and underactivity in the audi-
ence high levels of fear and anxiety related to all speaking situations, tory cortex. Abnormal basal ganglia activation has also been identified.

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 Chapter 53 u Language Development and Communication Disorders 335

EVALUATION TREATMENT
Comorbidities A true stuttering disorder is a lifelong condition. To date, no evidence
Despite the widely held belief in a high degree of comorbidity between supports the use of a pharmacologic agent to treat stuttering in chil-
childhood-­onset fluency disorder and other communication disorders, dren and adolescents, and there is no cure for stuttering. However,
research to date does not necessarily support this association. SLPs treatment in preschool-­age children has been shown to improve stut-
consistently report high rates of comorbidity, although this would be tering. In fact, speech-­language therapy is most effective when initi-
expected in clinical samples. Speech sound (phonologic) disorders are ated during the preschool period. The broad focus of therapy allows for
the most commonly reported comorbidities, occurring in 30–40% of minimizing the adverse effects of the condition.
children seen by SLPs. However, studies have not found greater inci- Based on the child’s age, types and frequency of stuttered behaviors,
dence of phonologic disorders among those who stutter compared to a severity of secondary characteristics, and impact on the child’s qualify
control group. Similarly, SLPs report a much higher percentage of chil- of life, the SLP will decide if a less direct or more direct therapeutic
dren with language disorders among their patients who stutter than the intervention is recommended.
approximately 7% expected in the population at large, yet studies find Less direct therapy focuses on manipulating the situation and envi-
the language functioning among individuals who stutter is no different ronment while allowing the child to experience increased fluency. Most
than in the general population. The same pattern holds for learning preschool children respond to interventions taught by SLPs that are
disorders (LDs). accompanied by behavioral feedback strategies implemented by parents
Children who stutter seem to experience more anxiety than their and teachers. It is important to recognize that parental pressure or speak-
nonstuttering peers, although research is limited. The frequency ing pressure does not cause stuttering. A less direct therapy approach
of reported anxiety increases with age. Social anxiety and general- involves working with the caregiver to accomplish the following:
ized anxiety disorder are common among adolescents who stutter. 1. Limit situations and expectations that cause increased dysfluencies
Although one should not assume that an individual who stutters and stress
will have an increased risk for any specific psychiatric disorder, 2. Demonstrate and model how to adjust speaking rate and complexity
assessing for anxiety is important, as children who stutter fre- of language rather than reprimanding children for their speech er-
quently avoid situations that demand speaking, as discussed earlier rors or asking them to slow down
in the chapter. 3. Increase opportunities for the child to experience fluent communi-
Children who stutter have consistently been found to be bul- cation
lied more than peers. In one study, these children were almost four More direct therapy is recommended and implemented when less
times more likely to be bullied than their nonstuttering counter- direct therapy did not have an impact on the stuttering behaviors, the
parts. About 45% of children who stuttered reported having been child has increasing worries related to stuttering, the child has a high
the victim of bullying. risk of continuing to stutter, or the child is older and has been stutter-
ing for some time. One of the overarching goals of the therapy imple-
Referral to Speech and Language Pathology mented by an SLP is to help the child experience increased fluency and
In deciding who to refer to an SLP, it is important to distinguish strategies to learn how to “stutter” better.
developmental dysfluencies from stuttering. In addition to the risks Therapy that is more direct adds the following elements:
noted in Table 52.5, indications for referral include three or more 1. Awareness and education: Recognizing and accepting that their speech
dysfluencies per 100 syllables (b-­b-­but; th-­th-­the; you, you, you), is different, identifying and naming types of speech, nonjudgmentally
secondary characteristics denoting escape or avoidance behaviors noting episodes of stuttering using selected words and phrases (which
(pauses, head nod, blinking), discomfort or anxiety while speaking, are often accompanied by pictures) that were developed with and
family history of stuttering or other speech-­language disorders, and practiced by the child (“That was a bit bumpy”), appreciating others’
suspicion of an associated neurologic or psychotic disorder. Most reaction to the child when stuttering, managing secondary behaviors,
children with persistent stuttering after age 4 years should be evalu- admitting they are a person who stutters, and addressing avoidance
ated by an SLP. behaviors as a result of the stress and anxiety they are experiencing.
As a part of the evaluation, the SLPs will be able to address the many 2. Fluency-­shaping behaviors: Regulating rate of speech and breathing
pressing concerns and worries of a parent whose child is stuttering. The and helping the child gradually progress from the fluent production
outcome of a speech-­language evaluation for stuttering should accom- of syllables to more complex sentences. The child should be involved
plish the following: in opportunities to identify speech disfluencies, implement self-­
1. Obtain a strong family history related to the existence of speech and correction, and respond to requests (“Can you say that again?”).
language disorders in general and more specifically related to stut- Because stuttering rarely disappears, the thrust of therapy is often to
tering and dysfluencies. “improve” the type of stuttering, decrease the occurrences of stuttering,
2. Interview the parent or child about the child’s stress when speaking and develop strategies for coping with the fear and anxiety that will
in various situations. continue to occur in various speaking opportunities.
3. Record a speech sample to analyze the type, frequency, and com- Appreciating that dysfluency is a broad term and stuttering can be
plexity of the dysfluent behaviors and secondary characteristics that one of the causes for this behavior allows pediatricians to have a more
the child is producing. accurate understanding of the symptoms, causes, and treatments asso-
4. Differentiate between developmental dysfluency behaviors, other ciated with dysfluencies. Being armed with this information allows the
causes of dysfluent behaviors, and a child-­onset dysfluency disorder provider to include in their referral to an SLP an accurate description
(aka stuttering). of symptomology, which will be beneficial in the planning and execu-
5. Develop a plan with the family that involves a combination of direct tion of their initial evaluation.
and indirect speech and language therapy, parent education, and
home programming. Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography.

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336 Part IV u Learning and Developmental Disorders

U.S. children with developmental disabilities or children with special

Chapter 54 healthcare needs have their communication needs met. The more
severe a child’s communication deficit, the more likely the child would

Augmentative and benefit from AAC support.

Across particular pediatric populations, it has been estimated that
25–50% of children with ASD have limited speech and would benefit
Alternative Communication from AAC. Up to 45% of children with CP use AAC either exclusively
or to supplement speech. Several studies have found that in intensive
Michelle M. Macias care units ∼30% of patients had communication breakdowns and met
AAC candidacy criteria, although alternative communication modes
were rarely used.

Children must develop communicative competence to interact with Goals of Communicative Interactions and AAC
others, to influence their environment, and to participate fully in soci- Interventions
ety. If children are not able to effectively communicate, they will have The ultimate goal of AAC is to enable individuals to effectively engage
minimal means to express what they need, exchange information with in interactions and participate in activities of their choosing. Broadly
others, and develop social skills and relationships. Some children are speaking, the goals of AAC interventions are to assist individuals with
unable to communicate effectively through natural means, including meeting their current communication needs and prepare them to
speech, gestures, or writing (see Chapter 53). These children with com- meet their future communication needs. Communicative interactions
plex communication needs (CCNs) have more independent func- can be said to fulfill four purposes: (1) communicate needs/wants, (2)
tion through augmentative and alternative communication (AAC) transfer information, (3) social closeness, and (4) social etiquette. It is
methods to meet their communication needs and to avoid significant important to remember that adequacy of communication depends on
restrictions on their participation in all aspects of life. the personal goals of the person using AAC, and the definition of suc-
AAC interventions have been helpful for individuals with no speech, cess may vary by the professionals involved.
limited speech, and those at risk for speech-­language disorders; this Most children with complex communication needs demonstrate
includes individuals who rely on speech but need augmentation to some ability to communicate using speech, although some are entirely
enhance speech, those recovering from a traumatic brain injury, and nonverbal. The effectiveness of natural speech for communication can
those who may have temporary conditions affecting communication. be divided into 10 levels (Meaningful Use of Speech Scale; Robbins &
AAC has changed from an emphasis on providing the means to express Osberger):
needs and wants to the recognition that communication must also fos- 1. Makes vocal sounds in communicative exchanges
ter exchange of information, development of social relationships, and 2. Gets another person’s attention using speech
participation in social routines. In addition, there is recognition that 3. Uses various vocal sounds depending on the intention and content
communication needs extend beyond face-­to-­face interactions and of messages
also include written communication in the school setting and even Uses speech for communication about:
social media in peer communities. 1. Known topics with familiar people
2. Known topics with unfamiliar people
DEFINITIONS 3. New topics with familiar people
According to the American Speech-­ Language-­Hearing Association 4. New topics with unfamiliar people
(ASHA), AAC is “an area of clinical practice that addresses the needs 5. Messages that are understood by familiar people
of individuals with significant and complex communication disorders 6. Messages that are understood by unfamiliar people
characterized by impairments in speech-­language production and/or 7. Clarification messages as needed when communication breakdown
comprehension, including spoken and written modes of communica- occurs
tion.” AAC encompasses the communication methods used to supple-
ment or replace speech or writing for those with impairments in the AAC Systems
production or comprehension of spoken or written language. In pedi- An “AAC system” refers to the integrated group of components used
atrics, AAC is used by youth with a wide range of speech and language to support and enhance communication. These components include
impairments, including cerebral palsy (CP), traumatic brain injury, the specific forms of AAC, selection techniques, and strategies for use.
intellectual disabilities, autism spectrum disorder (ASD), and apraxia Individuals with complex communication needs must have access to
of speech. In addition, children and adolescents hospitalized in inten- a wide range of means to enhance their communication and participate
sive care units can benefit from AAC. fully within social and educational contexts. This may include unaided
AAC is augmentative when used to supplement existing speech AAC, which does not require an external tool and requires some
and alternative when used in place of speech that is absent or not degree of motor control (e.g., gestures, sign language, finger spelling,
functional. AAC uses a wide variety of electronic and nonelectronic speech approximations), or aided AAC, which requires either an elec-
techniques from low technology to high technology, including manual tronic or a nonelectronic tool. Nonelectronic aided forms are referred
signs, gestures, tangible objects, line drawings, picture communica- to as low-­tech aided AAC and include options such as communica-
tion boards and letter boards, and speech-­generating devices. The term tion boards/books, picture-­exchange communication systems (PE or
assistive technology (AT) is a more general term describing systems PECS, pictures, photographs), or visual schedules. Electronic forms are
and devices that alleviate the effects of a disability and improve func- referred to as mid-­tech or high-­tech AAC systems and include tradi-
tion, for example, bracing for a child with a neuromotor impairment tional speech-­generating devices (SGDs) or voice output communica-
as well as AAC. tion aids (VOCAs), recordable devices, and computer/tablet options
and applications (“apps”). SGDs/VOCAs include multiple options.
Prevalence Single-­level devices have pictures/words on a single-­level display,
Across countries, the overall prevalence of AAC use ranges from whereas multilevel devices can have vocabulary programmed on more
approximately 1.2% to 1.5% of the population; worldwide up to 0.6% of than one level. Static display devices keep the same display, and the
the school-­age population has a severe speech impairment. A national user can sequence symbols or words to generate a message. Dynamic
survey of U.S. special educators reported that approximately 18% of display devices are usually those with a touch screen for the display in
students served in special education use a form of AAC for commu- which pages can change using navigation keys and link buttons. Text-­
nication, with 7% using gestural modes, 6.5% using pictorial supports, to-­speech devices enable the user to spell messages that convert to syn-
and 4.8% using a speech-­generating device (SGD). However, not all thesized speech. Some dynamic display devices include text-­to-­speech

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 Chapter 54 u Augmentative and Alternative Communication 337

Table 54.1  Types of Augmentative and Alternative Communication

LOW TECH MID-­HIGH TECH
Unaided • S ign language —
• Gestures
Aided •  ommunication boards/books
C • V oice output communication aids (VOCAs)/speech-­
• Picture exchange systems generating devices (SGDs) with prestored recordings of
• Visual schedules natural speech or computer-­generated speech
• Eye-­gaze picture board • Specialized software on electronic tablet, smartphone
• Simple single-­message speech output devices • Spelling and/or symbol systems to represent language
Unaided systems: Do not require special materials or equipment; rely on user’s body to covey messages.
Aided systems: Require the use of tools or equipment; can require power or no power.

and use symbols as well as text. Table 54.1 provides examples of the acquired at an equal pace. Studies comparing PECs with SGDs simi-
range of AAC systems. larly vary in terms of effectiveness of device use.
Mobile technology (e.g., iPad) and greater use of social media tools Physicians, therapists, and other professionals who prescribe AAC
have increased acceptance of AAC and reduced attitudinal barriers to must make sure the child (and family) receives training and monitor-
AAC use. However, the increased diversity of communication tools ing for using the device and that the device is accessible across settings
also means increased operational demands, given that each tool is in which the child functions (e.g., home, school, community activi-
designed with different representations, organizations, and layouts of ties). A substantial number of AAC devices are abandoned shortly
information as well as different access techniques (e.g., swiping, tap- after implementation without support for their use. AAC assessment
ping). Each design may reflect different motor, cognitive, perceptual, and intervention is a dynamic process, and usually ongoing, as often
and linguistic learning demands. A combination of gestures/signs, the children and adolescents requiring the AAC system are unable to
low-­technology systems, mobile technology devices, and SGDs can speak or write because of physical, cognitive, language, and/or sensory
provide AAC users with the most effective communication options impairments. Assessment generally consists of four phases as outlined
to suit their needs. here:
Phase 1: Referral. The “finder” role is an important role for pediatric
AAC Teams healthcare providers. They may be the impetus for recognizing that
AAC teams serving individuals with CCNs are the groups of people a child has a CCN and that an AAC intervention may be helpful.
that guide the AAC intervention decision-­making process and imple- They then assist the patient and their family by initiating a referral
ment communication supports. Team members include the children to an appropriate resource. The pediatric provider can support the
and adolescents with CCN themselves, parents/caregivers, and profes- AAC funding application by certifying a medical diagnosis and sign-
sionals playing a variety of roles. ing a prescription for the recommended service. Although the role
Children with CCN. The most important member of the team is the is episodic, it is nonetheless a key role in the AAC assessment and
individual relying on AAC techniques. The role may change in response treatment process.
to the individual’s maturation and capability, but to the extent possible, Phase 2: Initial Assessment. The goal of this phase is to gather infor-
the child or adolescent should participate in the decision-­making pro- mation to design an AAC intervention to match the child’s exist-
cess regarding goals, social relationships, and support options related ing needs and capabilities. The AAC specialist(s) assesses the child’s
to the AAC system and interventions. current communication interaction needs and his or her physical,
AAC facilitators. The term facilitator refers to parents/family mem- cognitive, language, and sensory abilities. This typically focuses on
bers, friends, professionals, and frequent communication partners who enabling communicative interactions between the child and familiar
assume some responsibility for keeping the AAC system operational AAC facilitators. The intervention is refined as the child learns about
and/or supporting the person with CCN to use it effectively. They sup- the operational requirements of the AAC system and the AAC team
port communication interactions by coaching, serving as interpreters, gathers information on how well the system works for the child.
and/or helping resolve communication breakdowns. Importantly, the Demonstrations and simulators are available to help with training
role of facilitator is to support independent communication by the before the actual equipment is ordered.
individual with CCN, not to communicate for the individual. Phase 3: Assessment for Other Settings. The goal is to develop a solid
AAC specialists. AAC specialists provide direct AAC interven- communication system that supports the child with CCN in a va-
tion services by instructing and educating about AAC and design- riety of environments, including home, school, and recreational
ing and implementing AAC interventions. AAC specialists work environments. A child must have access to a system that allows edu-
with clinicians and educators, such as speech-­language patholo- cational and social participation.
gists, occupational therapists, teachers, and pediatric healthcare Phase 4: Follow-­Up Assessment. This involves maintaining a com-
providers who provide clinical and educational services to youth prehensive AAC system that accommodates the child’s changing
with CCN. capabilities. The communication equipment must be examined
regularly to assess the needs of new communication partners, de-
AAC Assessment tect replacement/repair needs, and reassess the child’s capabilities
AAC assessment involves gathering information so that informed deci- as they change.
sions can be made about the adequacy of current communication, the
communication needs, the AAC techniques that are most appropriate, Specific Assessment Details
how to provide instruction in AAC techniques, and how to evaluate Assess Current Communication. The initial step is to assess the effective-
outcomes. Proper evaluation and support for the use of AAC devices ness of the child’s current communication system. The assessment of
are of paramount importance. communication access focuses on the operational and social aspects
Studies comparing acquisition of communication skills reveal few of communicative competence. A child with spastic quadriplegia, for
differences in terms of how quickly many children can learn to use example, may be unable to use eye gaze consistently and therefore
some of the available AAC options. For example, PEC and sign lan- operationally unable to use an eye-­gaze AAC system. On the other
guage comparison studies vary—some show PECs were acquired more hand, a minimally verbal adolescent with ASD may be able to operate
easily than signing, and others suggest both PECs and signing were an electronic AAC device but never use it to initiate a social interaction.

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338 Part IV u Learning and Developmental Disorders

Some questions to ask regarding current communication behaviors in natural speech and gestures but may need to rely on AAC techniques
children with CCN include the following: with unfamiliar partners.
u What are the various methods your child uses to communicate? Ex- Long-­term planning for adulthood is essential, given the need to rely
amples: words/speech, vocalizations, gestures, signing, communica- on AAC devices and techniques that can accommodate the range of
tion board, eye gaze, typing, and so on. demands that are communicative in nature, including interpersonal,
u What body part is used for each technique (e.g., left/right hand, academic, and employment demands. Without advance planning,
eyes)? AAC systems are unlikely to meet all these demands, or the individual
u On a scale of 1 to 5, how accurately and efficiently is your child able will not have all the skills required to use the systems.
to use this technique?
u On a scale of 1 to 5, how well is your child able to use this technique Intellectual Disability
in an interactive, socially appropriate manner? As defined by the American Association on Intellectual and Devel-
Screening Tools. Various screening instruments exist that help doc- opmental Disabilities (AAIDD), intellectual disability (ID; see Chap-
ument communication behaviors. These include the Communication ter 57) is characterized by “significant limitations both in intellectual
Matrix; the Inventory of Potential Communicative Acts (IPCA); and functioning and adaptive behavior as expressed in conceptual, social,
the Social Communication, Emotional Regulation, Transactional and practical skills.” Appropriate supports, including AAC supports,
Support (SCERTS) Model Assessment, among others. The Com- can have a significant impact on the ability of individuals with ID to
munication Matrix focuses on individuals using any form of com- live and learn successfully in inclusive environments typical of their
munication (presymbolic or AAC), and the IPCA focuses primarily same-­age peers. At least 30% of school-­age individuals requiring AAC
on presymbolic communicators with physical and/or developmental supports have an ID. One of the main barriers that exists for children
disabilities. The SCERTS Model Assessment focuses on communica- with ID is simply recognizing that the use of AAC can be beneficial and
tion and social regulation behaviors in verbal and nonverbal children that AAC use should be generalized across settings and not just used in
with ASD. highly structured settings such as school.
Assess Potential to Use or Increase Speech. A key issue in AAC assess- Although most youth with ID do not engage in socially inappropri-
ment for children with CCN is whether AAC is needed to augment ate behaviors, problem behaviors occur more frequently in this popula-
insufficient speech or serve as a replacement for speech. Parents are tion compared to those without ID. Many individuals with ID do not
often concerned that using an AAC device will negatively affect speech use speech as their primary mode of communication, and problem
development, as the child will have access to an “easier” alternative. behaviors can be exacerbated by difficulty communicating. Many of
The use of AAC techniques does not inhibit natural speech; conversely, the strategies used to support individuals with ID involve AAC strate-
AAC may enhance spoken language by supporting the development of gies such as visual schedules or those used to teach choice making and
communicative competence and language skills. functional communication training.
Assess Potential for Environmental Adaptations. Modifications of The nature of interventions directed at both natural speech develop-
physical spaces or structures may be relatively straightforward or more ment and AAC varies considerably given the diversity of syndromes
complex, depending on the specific situation. For example, at home, and conditions that result in ID. Many individuals with ID may have
furniture rearrangement or renovations to adapt the home to accom- multiple diagnoses that affect the nature of their intervention needs.
modate AAC devices may be necessary. In the school, desks/tables may
need to be raised/lowered or a vertical workspace may need to be cre- Autism Spectrum Disorder
ated with a slanted board. ASD (see Chapter 58) is a highly variable disorder; individuals with
ASD experience a wide range of complex issues related to language and
Specific Issues Regarding AAC for Children with communication, which presents challenges regarding speech-­based
Disabilities and AAC interventions. Individuals with ASD and ID may require
Cerebral Palsy more extensive educational, behavioral, and community supports
Communication impairments are commonly seen in children with compared with those without ID, but those without ID still require
CP, both related to impaired (motor) speech intelligibility and lan- supports in the core area of social communication. Language forms
guage disorders (see Chapter 638.1). The incidence of dysarthria varies are the language structures and vocabulary (e.g., grammar, syntax).
depending on the type of CP and degree of motor impairment. Lan- Language function refers to what individuals do with language as
guage impairments are associated with intellectual functioning and they engage and interact with others. Because ASD affects the nature of
hearing loss, if present. communication as a social mediator, it is important that AAC interven-
More than any other disability, communication interventions for tions emphasize the function, or pragmatic aspects of communication,
children with CP require a multidisciplinary team approach. The wide as well as the communication aspects related to the form of language.
variety of motor impairments entails the involvement of occupational Interventions must start at the individual’s level of social, com-
and physical therapists, orthotics specialists, rehabilitation engineers, municative, and cognitive development and build skills in a natural
and speech-­language pathologists. Positioning and seating adaptations developmental progression. The development of dynamic, interactive
may need to be developed for optimum stability and to allow efficient communication is critical, and the child with ASD needs to learn to use
movement to access the AAC system. The team must consider the wide communication skills related to functional activities in daily life. The
range of options available and what is necessary to optimally match developmental profiles of youth with ASD are often characterized by an
the child with the system being used. Although up to half of children uneven distribution of skills. Children with ASD often perform much
with CP may be able to access the AAC device through use of a finger, better with object permanence and tool use (causality) than those areas
others will need alternative access techniques, including chin pointers, requiring interpersonal interaction, such as gestural or vocal imitation,
joysticks, optical indicators, or switches. symbolic understanding, or language comprehension. Therefore AAC
Emphasis on AAC needs to be balanced with other developmental interventions must be geared to the child’s social and linguistic abilities
interventions, including speech-­language therapy, motor development rather than the child’s object abilities (e.g., fine motor skills or object
training, and academic instruction. Some will require extensive motor manipulation skills). Manual sign or pictorial systems (PECS) are often
training to be able to use alternative access methods such as eye tracker, recommended for nonverbal children with ASD. This often presumes
head mouse, or a switch for scanning. Although speech, gestures, and that the problem is only one of output and that communicative intent
facial expressions may be affected as a result of motor impairment, is intact; however, the child may not have the language or the social
patients should still be encouraged in using these natural modes for base on which communication must be built. Therefore interventions
communication. A balanced approach supports the use of multimodal should initially build imitation, joint attention, and natural gestural
systems, which can vary according to the situation. A child with CP communication skills before initiating formal language-­based AAC or
may be able to communicate effectively with family members using speech approaches.

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 Chapter 55 u Outcomes Among Infants and Children Who Are Deaf/Hard of Hearing 339

SGDs and other speech-­output technologies can be used effectively

in children with ASD to teach both communication and literacy skills. Chapter 55
SGDs can act as a “social bridge” to familiar and unfamiliar communi-
cative partners. They can be programmed with whole messages (e.g., “do
you want to play”) in addition to single words and phrases and thereby
increase communicative efficiency and decrease potential communication
Outcomes Among Infants
breakdowns. These output devices are available via touch-­screen tablet and
mobile devices.
and Children Who Are
Childhood Apraxia of Speech Deaf/Hard of Hearing
ASHA defines childhood apraxia of speech (CAS) as a neurologic
speech-­sound disorder “in which the precision and consistency of Susan E. Wiley and Rachel D. St. John
movements underlying speech are impaired in the absence of neuro-
muscular deficits.” Given consensus on diagnostic criteria is lacking,
ASHA recommends that the term “suspected CAS” be used. There is See also Chapter 677.
consensus on motor speech behaviors in three areas: (1) inconsistent Approximately 3 in every 1,000 infants in the United States are born
errors on consonants and vowels in repeated syllables or words; (2) deaf or hard of hearing (D/HH). Additionally, for infants who pass
lengthened, disrupted transitions between sounds and syllables; and the newborn hearing screening, there are a number of risk factors for
(3) inappropriate prosody of speech (see Chapter 53). developing delayed-­onset hearing loss at any time during infancy and
Given CAS is primarily a motor speech disorder, AAC is usually a sec- childhood. Given that the large majority of deaf infants are born to
ondary intervention, with the primary intervention focused on improv- hearing parents, there is the potential for a developmental crisis when
ing natural speech production. Because children with CAS often evidence an infant or child does not have an accessible shared language in com-
significant language delays related to the inability to practice language, it is mon with their parents.
important to provide them with AAC modalities early on. The use of AAC Acquisition of one’s first language is a phenomenon of early devel-
will not inhibit speech development and production, and generally use of opment (see Chapter 53). The first months and years of a child’s life
AAC supports result in increased mean length of utterances for the child. are critical to developing an intact native language. When the process
Children with suspected CAS who benefit from traditional AAC are of language acquisition is delayed or fragmented, as can happen with
those who primarily speak in single words, have largely unintelligible an infant who is D/HH, it can have a significant and permanent effect
speech, and are not able to effectively communicate with family members, on overall lifetime cognitive development. Timely identification and
peers, and teachers. The children benefit from a wide range of AAC, from support of infants and children who are D/HH, including the provi-
unaided techniques including gestures and signs and aided techniques sion of early access to language, is critical to the lifetime trajectory of
such as PECS communication books and/or SGD. It is important that the outcomes, including language, pragmatics, academic success, executive
AAC device facilitates both language development and social competence. functioning, and psychosocial well-­being.
The AAC system should be designed so that the child learns to create
­longer and more complex messages that are grammatically accurate. DEAF CULTURE
Children with suspected CAS who can produce single-­word utter- It is important to recognize that we as authors do not speak for Deaf
ances but struggle with multiword speech often benefit from AAC speech individuals or parents of D/HH children but seek to bring awareness
supplementation. This supplementation may be in the form of key sym- of some fundamental norms as a starting point for increasing famil-
bol supplementation, in which they point to key symbols in conjunction iarity and collaboration with these groups. Readers are encouraged to
with speech. This can help with topic setting—when the child introduces a explore the resources cited in this chapter, as well as information pro-
new topic of conversation, they point to a symbol, which helps narrow the vided by Deaf individuals and parents of D/HH children themselves.
range of possibilities for the communication partner. Often children with Among individuals in America who are D/HH, there is a subset
suspected CAS prefer to use natural speech and unaided approaches, using who self-­designate as culturally Deaf (intentionally spelled with an
aided AAC techniques only when communication breakdown occurs. uppercase D) who share American Sign Language (ASL) as their pri-
mary means of communication and a set of beliefs and traditions that
Special Considerations are transmitted across generations. In the United States, the National
Reimbursement and Funding. The AAC specialist (usually a speech-­ Association of the Deaf is the organizational body that supports and
language pathologist) should be familiar with public and private funding represents this cultural Deaf community, with a mission “to preserve,
options. Funding can come from schools, third-­party payers (private or protect and promote the civil, human and linguistic rights of deaf and
public insurance companies), or philanthropic sources. Low-­tech AAC hard of hearing people in the United States of America.”
systems are usually developed by a speech-­language pathologist and do There is a potential conflict between the “hearing” medical commu-
not usually require additional funding. SGDs are considered durable nity and the culturally Deaf community, with the medical community
medical equipment (DME), and funding can vary immensely. Coverage traditionally operating from a pathology model (identify and fix the
will need to be verified based on the patient’s specific needs and insur- problem) and the Deaf community operating from a sociocultural one
ance. Pediatric care providers are often asked to sign prescriptions and/ (there is no problem in need of fixing). Hearing parents and profes-
or write letters of medical necessity for an AAC device. This should be sionals whose societal existence is grounded in listening and spoken
done only after conferring with the AAC team members, especially the language often view being D/HH as a limitation to interpersonal con-
speech-­language pathologist. The letter should include that the pediat- nection, education, and vocation. Deaf individuals, who achieve virtu-
ric provider received the evaluation reports, reviewed the recommen- ally all the same milestones as hearing individuals do by using a visual
dations, and agrees that the recommended AAC devices are medically language medium, do not view being D/HH as a loss. Among cultur-
necessary for treatment of the child’s CCN associated with the specific ally Deaf individuals, the terms “hearing loss” and “hearing impaired”
diagnosis. SGD vendors are often able to assist with funding questions. are often viewed as inaccurate and potentially offensive. For those who
The Assistive Technology Act. The Assistive Technology Act of were born deaf, the experience of hearing is something they never had
2004 provides all U.S. states and territories with federal funding to and therefore have never missed. It is not something that holds them
increase access to AT devices and services. This information can be back, but instead is a source of maintaining a positive self-­identity and
found at the National Assistive Technology Act Technical Assistance pride in one’s culture and community.
and training (AT3) Center (https://www.at3center.net/stateprogram). Hearing clinicians caring for deaf infants and children or members of
the Deaf community must practice with the cultural humility necessary
Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography. to appreciate the perspectives of the Deaf community (see Chapter 2).

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340 Part IV u Learning and Developmental Disorders

Table 55.1  Common False Assumption About Deaf or Hard of Hearing (D/HH) Infants and Children
FALSE ASSUMPTION ALTERNATIVE APPROACH
Being D/HH causes language delay. Often, the parent and deaf infant do not share a common language, creating a language barrier leading
to delays. Early identification (by 1-­3 mo of age) and intervention by 6 mo of age are critical for language
development.
Passing newborn hearing screening Many factors can cause delayed-­onset hearing loss. A full audiologic evaluation is indicated for any
tests means one does not need to caregiver concern about hearing or for delays in language development—a “wait and see” approach is
be concerned about hearing. never indicated.
All behavioral symptoms or Young neurotypical deaf children with adequate access to language through amplification and spoken
developmental delays are language, sign language, or both should not be expected to have challenges in development, behavior,
caused by the hearing loss. or social engagement. Referral for evaluation is essential if these symptoms are present.
Sign language is a last resort for American Sign Language (ASL) is a full and complex language with a clear syntax and grammar structure.
communication for D/HH infants or Learning sign language can promote language development when children cannot access spoken
children. language during a period when this input is critical for cortical brain development.

Including access to Deaf individuals as part of healthcare teams Clinicians should also consider the possibility of hearing loss in
involved in the care of D/HH infants and children is an important first young children with other behavioral changes. An older child may
step in including this cultural perspective in health service delivery and report a sudden dramatic hearing loss. However, younger children may
decision-­making. not have the linguistic capacity or awareness to describe loss of hear-
It is also important to recognize the concept of intersectionality (the ing and may present instead with changes in behavior (being upset,
interconnected nature of social categorizations such as race, ethnicity, aggressive, withdrawn). Some children with a progressive or sudden
class, and gender), which plays a role in the Deaf community. Being change in hearing status may appear to have a behavioral condition
Deaf and Black is not just the sum of the experiences of Deaf individu- such as attention-­deficit/hyperactivity disorder (ADHD) or may be
als and Black individuals—the two constructs existing simultaneously described as defiant. Children with unidentified hearing changes and
in the same person makes for a unique life experience. Intersectionality children with ADHD can share behaviors—they are perceived as not
is recognized within the context of the Deaf Plus community because paying attention, they often are not aware of what is happening in the
those individuals do not simply experience life as a Deaf person who moment, they may not respond as expected when being addressed, and
also happens to have an additional condition. The interplay of these they may not focus on the things that are being discussed.
aspects of individuals is a critical part of identity formation, self-­ Another problematic issue known as diagnostic overshadowing can
esteem, cultural engagement, potential experiences of disadvantage/ occur when all developmental or behavioral challenges are attributed
discrimination, and personhood in general. to one cause (in this case, hearing status) when the symptoms should
suggest the possibility of another disorder. For example young neuro-
EARLY DETECTION AND LANGUAGE typical D/HH children who have adequate access to language (through
DEVELOPMENT amplification technology and spoken language, sign language, or a
Deaf children who are born to deaf/signing parents are natively combination of both) should not automatically be expected to have
exposed to sign language from the first day of life and subsequently substantial challenges with language development, behavior, and social
can be expected to acquire sign language milestones in a predictable engagement. If clinicians reflexively attribute delays in social and lan-
manner similar to typically developing hearing children acquiring guage development to the fact that the child is D/HH, they may miss
spoken language milestones. Deaf children of signing parents achieve the diagnosis of a developmental disorder when they would not have
their first signs, vocabulary expansion, combining of two discrete sign missed the diagnosis in a hearing child.
concepts, progression to more complex phrases and sentences, and Sign language has many benefits for D/HH infants and children
other language-­related milestones at expected ages if assessed in sign and should not be regarded as an inferior last resort only to be
language. However, more than 90% of deaf infants are born to hearing used if spoken language efforts are not successful. ASL is a full and
parents who most often do not sign fluently. This creates an immediate complex language. Much of the grammatical structure and concept
and significant loss of a shared intact language. Families will turn to complexity in ASL is conveyed through spatial placement of signs
professionals for advice on making decisions regarding language, edu- and body movements. Body movements can include body lean and
cation, amplification technology, and social engagement. Sometimes eyebrow shift to indicate a question, furrowing of the brow and
these clinicians make false assumptions that delay detection or inter- pursing of lips to convey negation, and shifting of body position
vention for children who are D/HH (Table 55.1). in space to define multiple individuals involved in conversation, to
Clinicians should be aware that although language delay may be a name a few.
presenting symptom in a D/HH child, being deaf in and of itself does The active discouragement of using visual language with any D/
not inherently cause delayed language development. Rather, the inabil- HH child is a developmental disservice, particularly so with the pro-
ity for a parent and an infant to share a common accessible language foundly deaf infant whose hearing level is too low to benefit from
creates a barrier to the development of language. This is why early iden- traditional hearing aids. For these infants, a cochlear implant is
tification and support are critical for D/HH infants to support language likely the only potential route for accessing spoken language input,
access, whether to spoken language through amplification and therapy and the earliest that the Food and Drug Administration (FDA) cur-
or access to sign language (or both). Even children who have passed rently approves cochlear implantation is 9 months of age. There
their newborn hearing screening who have language delays must have remains a number of children who are not achieving such early ages
a full audiologic evaluation, as a substantial number of factors can con- of cochlear implantation. Lack of access to sign language can mean
tribute to delayed-­onset hearing loss (DOHL) at any time during early, up to a year or more of complete lack of accessible linguistic input
middle, or late childhood. Parental concern about language delay or during a period of cortical development when language input is
responsiveness of their child is a sensitive, but not specific, indicator of critical; that lack of language input can in turn affect infant bonding
possible hearing loss. It is important to respond to parental concerns with parents. Even after cochlear implantation, it takes a substantial
of hearing or language with referrals for hearing assessment, language amount of therapy (auditory-­verbal/listening and speech-­language
evaluation, and age-appropriate therapeutic support systems. therapy) to build spoken language skills.

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 Chapter 55 u Outcomes Among Infants and Children Who Are Deaf/Hard of Hearing 341

INTERVENTIONS of communication approaches (see Table 55.2). Each approach has

Supporting children who are D/HH requires a combination of a proac- specific components needed for successful implementation and lan-
tive approach to care, ongoing monitoring for delays in all developmen- guage outcomes. The overall goal to support communication develop-
tal domains, and timely recognition and intervention of gaps that can ment can be an unfolding journey. Choices and strategies that worked
occur because of the impact of hearing status on language and overall well for a child in early childhood may not be as effective as the child
development. matures, particularly as social engagement and academic demands
There is a tendency, especially for those who are not familiar with D/ evolve with age and advancement in school. Thus it is important for
HH children, to assume that a child who does not hear will have reduced families to recognize that communication needs can change over time,
developmental outcomes compared to their hearing peers. There is prompting a shift from a prior decision to an alternative approach.
robust evidence supporting the importance of early identification and
intervention for long-­term outcomes in children who are D/HH. A Technology
child’s developmental and learning potential should not be defined by Hearing Aids
their hearing; clinicians should encourage and support families’ high Hearing aid technology is very refined. Hearing aids are essentially mini-­
expectations for a child’s development regardless of hearing status. computers that take sound from the environment and are programmed
The medical home can fill a critical role in supporting a family’s journey, to adjust how this sound is processed and delivered to the ear. Hearing
though often primary care providers have relatively few children who are aids have a number of different features that can augment the quality
D/HH in their practice and may not be well-­versed in how to monitor of sound a child will hear. Hearing aids can analyze the sounds coming
the medical and psychosocial needs of a D/HH child. This prompts the into the device and preferentially reduce background noise. They can
need to seek out information from a variety of sources and link families compress sound waves to preferentially make soft sounds louder and
with reputable information. Because D/HH is a low-­incidence condition, try to avoid distortion of loud sounds (wide dynamic range compres-
it is challenging for one setting (early intervention–based, school-­based, sion). Hearing aids can have microphones that can receive sound from
clinical-­based) to include a variety of children and match appropriate com- many directions or focus primarily on sounds coming from in front of
munication approaches. Interventions can be categorized in a variety of a child. A hearing aid can also carry a variety of programs for differ-
ways. A framework for various communication approaches is commonly ent listening settings. This allows a child to have a different program
used for understanding how to support language development in children for a quiet environment compared to a noisy environment. Technol-
who are D/HH (Table 55.2), including technology and environmental ogy can also include Bluetooth to link to other devices. There are a
modifications. number of apps to help monitor battery life and adjust the program for
the setting through the app. Follow-­up care with audiology is impor-
Communication Approaches tant to ensure continued supports for any amplification used and to
Often different approaches to communication are presented as a choice to monitor for changes in hearing. For children with conductive hearing
make during the early years of critical language growth. Many communi- changes, bone conduction aids may be indicated. These devices bypass
cation approaches have passionate national organizations advocating for a the outer and middle ear, conducting sound through the skull directly
specific approach (Table 55.3). The educational philosophy known as total to the cochlea and auditory nerve. When children are 5 years or older,
communication is often misunderstood to mean using both signing and they can be considered for a surgically implanted bone conduction aid
spoken language; however, it refers to incorporating an array of communi- called a bone-­anchored hearing aid (BAHA). These devices also have
cation modalities (formal signs and fingerspelling, gestures, body language, the capacity to link to a frequency modulation (FM) system.
lip reading, speaking, listening), with the goal of optimizing language It is helpful to remember that even with advancements in tech-
development that is tailored to be most effective for the individual child. nology, what children hear with hearing aids is not the same as
We have chosen to refer to the national organizations and the Cen- what people hear with a typically functioning auditory system. It is
ters for Disease Control and Prevention (CDC) to guide definitions equally important to consider environmental supports to optimize

Table 55.2  Communication Approaches for Children Who Are Deaf and Hard of Hearing (D/HH)
COMMUNICATION MODALITY DESCRIPTION CITATION/ORGANIZATION
American Sign Language (ASL) ASL is the recognized sign language of the deaf community in National Association of the Deaf
the United States. ASL conforms to linguistic principles and is (https://www.nad.org/about-­us/position-­
distinct from English. statements/position-­statement-­on-­
american-­sign-­language)
Conceptually Accurate Signed Using conventional ASL signs in an English word order. https://www.cdc.gov/ncbddd/hearingloss/
­English (CASE) parentsguide/building/case.html
Manually coded English Signing Exact English is an example of a manually coded www.signingexactenglish.com
English. It is a sign system that matches signs with the
English language and includes manual representation of all
components of the English language.
Fingerspelling/Rochester The Rochester method was intended to support English literacy
method and uses fingerspelling for all words.
Cued Speech Cued Speech is a visual communication system that uses eight National Cued Speech Association (https://
handshapes in four different placements near the face in www.mdaap.org/pdf/CuedSpeech.pdf)
combination with the mouth movements of speech to make the
sounds of spoken language look different from each other.
Spoken language and listening Children learn to listen and talk with the support of hearing Communication Options (https://www.agb
technology such as hearing aids, assistive listening devices ell.org/Families/Communication-­Options)
(such as an FM system), or cochlear implants. Centers for Disease Control and
Auditory-­oral approaches include gestures, listening, speech/ Prevention: How People with Hearing
lip reading, and spoken speech. Loss Learn Language (https://www.cdc.go
Auditory-­verbal relies on listening and spoken speech. v/ncbddd/hearingloss/language.html)

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342 Part IV u Learning and Developmental Disorders

Table 55.3  Resources for Families and Professionals

NATIONAL ORGANIZATIONS: FAMILY SUPPORT
Hand and Voices Supports families and children without a platform providing a specific mode of communication.
(www.handsandvoices.org)
National Association for the Deaf Advocates for use of American Sign Language and represents the culturally Deaf community.
Alexander Graham Bell Association for the Advocates for people who are D/HH to hear and use spoken language.
Deaf and Hard of Hearing (www.agbell.org)
Beginnings (www.ncbegin.org) Promotes language accessibility through cued speech (see Table 55.2).
American Society for Deaf Children
(www.deafchildren.org)
DEAF HISTORY AND CULTURE
The National Association of the Deaf https://www.nad.org/about-­us/
Deaf Heritage: A Narrative History of Deaf This 1981 book by Jack Gannon, a Deaf author and historian, is often referred to as a canon
America of Deaf culture in the United States. The book covers a number of events throughout
history, including the establishment of schools for the deaf and the inception of the National
Association of the Deaf and explores topics such as American Sign Language, Deaf artists,
Deaf sports, and seminal Deaf publications.
Through Deaf Eyes A 2007 documentary covering close to 200 years of being Deaf in the United States in a 2-­hour
run time through a diversity of interviews, movie shorts, and stories that capture the events
that have affected Deaf lives throughout American history (https://www.youtube.com/watch?
v=PL5d8kyZUQk).
DEAF MENTORS
The National Center for Hearing Assessment Houses a directory of D/HH adult involvement programs by state (https://www.infanthearing.or
and Management g/dhhadultinvolvement/states/index.html)
SKI HI Deaf Mentor Program Curriculum for infants and young children who are D/HH (http://www.deaf-­mentor.skihi.org)
Hand and Voices Deaf and HH Mentor/Guide/ https://handsandvoices.org/fl3/topics/dhh-­involvement/programs.html
Role Model Programs
American Society for Deaf Children: Deaf ASL https://deafchildren.org/knowledge-­center/asl-­resources/sign-­on/
Ambassadors Program
PRACTICE GUIDELINES
American Academy of Pediatrics Early Hearing https://www.aap.org/en/patient-­care-­pages-­in-­progress/early-­hearing-­detection-­and-­
Detection and Intervention Program intervention/
EHDI National Technical Resource Center https://www.infanthearing.org
The Joint Committee on Infant Hearing www.jcih.org

listening environments. Contralateral routing of signal aids (CROS) traditional amplification. A period of hearing aid trial is recom-
can be helpful for children with unilateral profound deafness. This mended before implantation. In children with hearing loss caused
amplification system uses a transmitter at the ear that does not hear by meningitis, it is important to monitor for bony changes in the
and routes it to a receiver on the typically hearing ear. Assisted lis- cochlea via imaging. Early signs of ossification would prompt ear-
tening devices such as FM systems are used to help address prob- lier cochlear implantation to ensure the electrodes are in an opti-
lems hearing in background noise and when speakers are farther mal position to stimulate the auditory nerve. Even for children who
away. This system has a small transmitter with a microphone. The are bilaterally profoundly deaf, there can be reasons that a cochlear
speaker wears the transmitter, and this then links directly into head- implant is not appropriate. For example, absence of an auditory
phones or a personal amplification system (hearing aid or cochlear nerve would preclude pursuing an implant.
implant). FM systems are traditionally used in the classroom set- Often pediatric cochlear implant centers use a multidisciplinary
ting, although they may be employed in other settings that tend to approach to determining cochlear implant candidacy and to ensure
have competing background noise such as restaurants or when the strong follow-­up support. In the past, children with developmen-
focus on a particular individual speaking is important. The teacher tal disabilities were deemed not appropriate for cochlear implanta-
may also use a transmitter with microphone that links to a number tion, as results were thought to be limited. Although outcomes can
of speakers around the room (soundfield system). In this way, the vary in this group of children, a developmental disability alone does
accommodation is available to all students in the classroom, may not preclude receiving benefit from the device. Ensuring global
benefit children easily distracted by background noise as well as the developmental supports, addressing potential expectations and
D/HH student, and does not single out the D/HH child alone. outcomes, and linking children and families to resources can help
children gain benefit from access to sound.
Cochlear Implants Coordination of care and follow-­up is essential in all children
Cochlear implants are surgically implanted devices that bring with cochlear implants. They initially will see audiologists at fre-
direct electrical stimulation to the cochlea. These devices are FDA-­ quent intervals to program the implant, and speech therapy is a crit-
approved for children 9 months and older with profound sensori- ical and ongoing component of fostering success with an implant.
neural hearing loss and in lesser degrees of hearing changes (70 dB At the age of 2 years, they should receive the 23-­valent pneumo-
or more) when children are not receiving adequate benefit from coccal vaccine to ameliorate the increased risk of meningitis. The

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 Chapter 55 u Outcomes Among Infants and Children Who Are Deaf/Hard of Hearing 343

medical home can play an important role in managing this addi- staff when they schedule the next appointment. D/HH children are vul-
tional immunization, as well as in monitoring medical issues and nerable to missing years, if not decades, of incidental learning regarding
developmental progress. everyday interactions. Direct teaching of incidental information, or mak-
Early implantation has been associated with better hearing, speech ing the implicit explicit, is a tenet of supporting the language development
perception, and spoken language outcomes, as it ensures early stimula- of children and youth who are D/HH. In the medical setting, this can be
tion of the auditory cortex necessary for the development of spoken addressed for the signing D/HH child by having a sign language inter-
language. Although FDA approval is for children 9 months and older, preter present to ensure the child can build an understanding of their own
there are situations where earlier implantation is indicated, and many health history and expand health literacy, even if they may be too young
in the field of pediatric audiology and pediatric otology are advocating to engage in the conversation directly. Although it may feel more com-
for earlier implantation. Unilateral deafness is another emerging indi- fortable and efficient to get information directly from parents, it is critical
cation for cochlear implantation in children. for the provider to engage the child directly as much as possible to maxi-
mize their involvement in their own plan of care. Addressing incidental
Other Supports and Factors Influencing ­ learning for children who are D/HH should occur regardless of mode of
Amplification Decisions communication.
The cost of amplification devices can be quite high. Many insurance As families hold an important role in their child’s language devel-
plans do not cover hearing aids, though more cover costs associated opment, building and empowering families in the development of
with BAHAs and cochlear implants. Services and coverages vary by skills and strategies is an important component of early intervention.
state and insurance plan. Families often need to obtain insurance Within the field of early intervention, coaching parents on how to
or additional coverage to cover replacement costs associated with engage and interact with their child to promote optimal development
damage or loss of the device. Technology updates can also add fur- has been noted to be effective for a number of populations of chil-
ther expenses. dren. Communication is interactional, and coaching puts the family
There are also many day-­to-­day factors that affect a child’s accep- in the position of providing the intervention and thus builds skills to
tance of amplification. In early childhood there is rapid growth of support their child.
the skull and ear canal. With hearing aids, children often need to
return to audiology frequently to resize the ear molds to ensure a When a Child Is Not Progressing
good fit. Children also can become very adept at removing their If a child’s language development is not progressing, it is necessary
hearing aids. Young children in daycare are particularly vulnerable to reevaluate factors that could contribute to language develop-
to potentially losing their amplification when rolling, crawling, or ment. Factors to consider include problems with devices that have
playing or when naturally curious peers and playmates attempt to not been fully optimized, aspects of access to language, and coex-
take them. Parents, caregivers, and teachers routinely checking on isting medical, developmental, or behavioral conditions impacting
hearing aids/cochlear implants is a critical support to using ampli- learning.
fication technology successfully in young children. In evaluating a child’s access to language, consider how the child is
A number of environmental supports can be helpful. For families learning, the language environment, and whether a child is getting a
seeking a spoken language approach, it is helpful to decrease back- quality language model for learning. If a communication modality is
ground sounds. Turning off TVs and devices can help children be pursued that cannot be supported across the environments the child
able to listen and hear what is said. Children often struggle hearing is in (e.g., school, home, community-­based organizations), the D/HH
speakers from a distance. This affects incidental learning, as they child can lag behind their peers. Overt problematic scenarios include
have fewer opportunities to “overhear” peripheral conversations. a deaf child without good acoustic access attempting to learn spo-
Families are often coached in ways to optimize their child’s listening ken language or a child learning sign language but with limited sign
environment and ways to highlight spoken language and concepts. language proficiency in their home, community, and school environ-
Technologic support can include captioning on the television, ments. Regression of language should prompt reevaluation of hearing
video-­relay with sign language interpreters, texting, speech-­to-­text, and consideration of brain-centered as opposed to hearing-centered
visual fire alarms, and vibrating alarms. These types of technologies problems with learning.
are often not covered through insurance, although some state agen- A child’s response to a communication approach may be affected
cies have programs to help defray costs. Other accommodations by broader developmental issues. A child may have a unique learn-
for communication access can include sign language interpreters, ing profile and benefit from alternative approaches to language-­
cued speech interpreters, and open captioning. The Americans with based learning. Whereas children who are D/HH often have strong
Disabilities Act ensures children, adolescents, and adults have the visual problem-­solving skills, some children who are D/HH are
legal right to communication access. This is particularly important stronger in the auditory domain. Although it should not be auto-
in medical settings. Family members should not be asked to serve as matically assumed that a D/HH child will have developmental delay,
interpreters for the child, as this limits the ability for the parent to up to 40% also have a developmental disability or condition that can
listen and be part of the conversation or may limit the child’s access affect progress. Early recognition of a child’s broader needs can help
to the conversation at hand. ensure children receive effective interventions for all of their needs.

LANGUAGE LEARNING ACADEMIC CONSIDERATIONS

Language is a critical component of the human condition and allows The Individuals with Disabilities Education Act (IDEA) ensures a
connection with others. The United Nations has recognized communi- free, appropriate public education for all students with disabilities,
cation as a human right. Communication happens in many ways that including those who are D/HH. This law recognizes the right to
can include behavior, nonverbal communication, tone, facial expres- be educated within the least restrictive environment (LRE), or to
sions, words, and sentences. These aspects of communication are uni- the maximum extent that is appropriate, education with their peers
versal irrespective of mode of communication. who do not have disabilities. This must be balanced with the indi-
Promoting language development needs to focus on far more than the vidual student’s communication, linguistic, academic, social, emo-
ear and hearing. As in typical children, the quality and quantity of com- tional, and cultural needs. Because of the varied settings and range
munication are important (see Chapter 53). Additionally, children who of communication support needs, as well as the diversity of indi-
are D/HH are at high risk of missing learning via “the unwritten curricu- vidual student strengths, endorsing one specific educational setting
lum”: social and cultural learning that occurs incidentally and passively. is not possible or appropriate.
Hearing children repeatedly overhear conversations that do not directly Reading and literacy skills are associated with language fluency
include them but are related to them, such as when their parents talk to levels and tend to be improved by early age of identification and
the pediatrician about their care or how the parents interface with office intervention. Standardized achievement testing from the early

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344 Part IV u Learning and Developmental Disorders

2000s demonstrated that only half of D/HH high school graduates

Table 55.4  Rates and Types of Disabilities Among
were reading above a fourth-­grade level. However, these data are old
Children Who Are D/HH and Within the
and do not control for varying factors across students such as coex-
General Population
isting medical or developmental conditions, delays in identification
and early language access, and varying teaching methodologies. TYPE OF DISABILITY D/HH (%) GENERAL
Academic outcomes are likely to be optimized with early identifica- POPULATION (%)
tion and support of language in infants who are D/HH and with
No developmental disability 60 83
the prompt recognition of, and support for, other developmental or
behavioral challenges that may interfere with learning. Cognitive/intellectual disability 8.3 1
Cerebral palsy 8 0.3
PSYCHOSOCIAL WELL-­BEING
An important consideration for any individual is psychosocial Blindness and vision impairment 5.5 0.3
well-­being. Because the population of D/HH individuals is heter-
Attention-­deficit/hyperactivity 5.4 9
ogenous, it is difficult to make overarching statements regarding disorder
mental health and wellness. Hearing loss in the elderly has been
associated with depression. This is due—at least in part—to the loss Specific learning disability 8 7
of connection and communication with others. Similar effects can Autism spectrum disorders 7 1.7
be seen across the life span for deaf individuals who did not develop
enough formal language to communicate effectively. Studies have
linked a lack of language proficiency with in-­patient psychiatric recognition of these factors causes delays in accessing effective
care in adults and psychosocial difficulties in children. A large-­scale intervention strategies. Conversely, the presence of specific coex-
study in Taiwan spanning over a decade estimated an 11.1% lifetime isting conditions should not be assumed to predict functioning or
prevalence of clinically diagnosed unspecified anxiety disorder in decisions about communication. A child who is deaf and also has
the D/HH group, which was twice the incidence in the hearing con- cerebral palsy should not be assumed to be unable to use sign lan-
trol group. guage because of impact on hand/arm movements, as these children
A phenomenon described by some D/HH individuals, deaf anxi- may use sign language receptively for language understanding quite
ety, is related to interpersonal challenges a D/HH individual can well. The need for individually tailored care and education plans is
experience when interfacing with a largely hearing society. Although particularly critical in children who are Deaf Plus.
advances in technology with hearing aids and cochlear implants Children who are D/HH have vision changes at nearly twice the
continue to improve access to audiologic input, it is important to rates compared to the general population. Vision differences are
consider that these are tools with inherent limitations—they are not important to detect, as children who are D/HH often rely on their
an equivalent “replacement” for natural hearing. D/HH adults have vision for accessing information. Even among children who receive
described fears such as missing/misunderstanding information, effective amplification and good acoustic access to information,
concern with appearing not to be interested in or not paying atten- some reliance on lip reading and visual attention to the speaker can
tion to someone speaking, disproportionately increased difficulty enhance a child’s ability to process information. There are no spe-
when dealing with noisy environments, and worry about missing cific standards regarding the timing and frequency of ophthalmologic
significant information in nonaccessible environments such as evaluations and monitoring intervals, but it is important for all chil-
being unaware that a fire alarm has gone off if there is no visual dren who are D/HH to have regular monitoring of vision and eye
indicator in addition to the sound alarm. health with a pediatric eye care specialist.
The experiences of a deaf person in a predominantly hearing For children who have both hearing and vision changes (Deaf-
world contribute to the critical journey of identity formation for D/ Blind), intervention strategies can be increasingly complex. IDEA
HH children as they become young adults. Deaf children, regardless specifically defines DeafBlindness as “concomitant hearing and
of their success with technology, are still deaf. When a child takes visual impairments, the combination of which causes such severe
off their hearing aids or cochlear implants to take a bath, swim, or communication and other developmental and educational needs
rest, they are deaf. The technology does not change who they are that they cannot be accommodated in special education programs
fundamentally. Supporting families in their efforts to understand, solely for children with deafness or children with blindness.” When
accept, and value their child as a deaf individual can provide resil- the two conditions are present simultaneously, there are additional
ience for identity formation in adolescence. There also needs to be challenges to be considered regarding language access and acqui-
recognition that families are necessarily thrust into a position of sition. Each state has a federally funded DeafBlind project that
making decisions for their young D/HH child with the knowledge provides resources and technical assistance to support children
they have at the time and may have concerns about how their child identified as DeafBlind. For children who are DeafBlind, many are
as an emerging adult may feel later on about those decisions. Fami- advocating for interveners. Interveners are more than interpreters:
lies can benefit tremendously from access to programs that can con- they facilitate communication and inclusion and address social and
nect them with other deaf children, deaf adults, and community emotional needs within educational settings.
resources that support a variety of ways to exist as a successful deaf
individual. FAMILY JOURNEY
Each family has a unique narrative to their overall family experience, as
DEAF PLUS well as a specific pathway to supporting the growth and development of
It is helpful to recognize that some of the risks associated with being their D/HH child. Some families experience profound grief around the
D/HH are also risks for other conditions that impact functioning loss of an expected parenting story. Many families speak of being over-
in children who are D/HH (Table 55.4). It is important to look whelmed initially by an immense amount of information and pressured
beyond hearing status as the reason for delays so as not to miss to make crucial decisions in a timely manner. Others move into an advo-
other factors contributing to a child’s slow rate of progress. Delayed cacy model and have their own unique take on the parenting journey. One

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 Chapter 55 u Outcomes Among Infants and Children Who Are Deaf/Hard of Hearing 345

Table 55.5  Approaches in the Medical Home to Support the Family Journey
FAMILY JOURNEY THEMES CONSIDERATIONS AND STRATEGIES
Family-­centered decision-­making: Before the visit:
Ensure families are central in decision-­making ⦁ Physician reflection on their own knowledge, expertise, and biases
At the visit:
⦁ Listen to family concerns actively and address concerns, referring to others when outside
provider expertise is necessary
Families’ need for informed choice Before the visit:
⦁ Recognize that each family and child are unique and decisions may vary across families
⦁ Recognize that decisions may change over the life span of the child
⦁ Recognize the passion across communication modalities, which drive potential biases in
information and guidance
At the visit:
⦁ Listen actively to understand the family’s values and intended goals and outcomes
⦁ Collaboratively seek information from a variety of reputable sources and discuss potential
biases across various “experts” in the field (see resource list)
⦁ Incorporate the family’s values in an action plan together
⦁ Refer to experts as appropriate
Family-­to-­family support: Before the visit:
Because having a child who is D/HH can feel ⦁ Recognize the importance of family-­to-­family support
isolating and professionals do not carry the ⦁ Identify resources to link families with other families (see resources)
same day-­to-­day experiences, family-­to-­ During the visit:
family connection is an important component ⦁ Discuss the possible isolation families face
of support ⦁ Determine interest and readiness for family networking
⦁ Share resources that they can rely on when ready to reach out
Access to D/HH adults: To support the family’s Before the visit:
recognition of what success can be and to ⦁ Recognize families may be experiencing grief over the loss of their child’s expected future
provide children with a conceptual framework and that experiences with other individuals who are D/HH may be limited or nonexistent
for D/HH individuals as adults ⦁ Identify resources to link families with Deaf adults and Deaf mentoring programs (see Table 55.3)
During the visit:
⦁ Discuss family’s hopes and fears
⦁ Highlight the importance of high expectations for their child
⦁ Discuss ways to promote identity, connection, and independence for their child
Child interactions and supports Before the visit:
⦁ Recognize the variability and uniqueness of children who are D/HH in terms of capabilities,
skills, and opportunities
At the visit:
⦁ Engage D/HH children directly rather than rely solely on family members for interpreting
communication; for children who use sign language, access to an interpreter is a right under
the Americans with Disabilities Act
⦁ Recognize children’s strengths and resilience
⦁ Ensure children have access to their own health information (at their developmental level)
and have the opportunity for inclusion in decisions as appropriate
⦁ Advocate with children and families to have high expectations for skills, recognizing that
often medical and educational settings use a deficit model (the child must be behind) to
­access supports

simply has to take a look at some of the family stories that are available and identifying ways to partner and support families is a critical role of
in the public realm to appreciate the diversity of the family experience in the medical home.
raising a D/HH child.
A number of parent support organizations are available to families, ACKNOWLEDGMENTS
some of which are organized around specific communication philoso- The authors extend their gratitude to Chris Moreland, MD, and Robert
phies (see Table 55.3). Nutt, MD, for their input from the deaf adult/deaf professional per-
The pediatrician may be the first medical professional that families spective, and to Lauren Tyra, PhD, for her input from the perspective
turn to if there is concern about language development and/or hearing. of a parent of a deaf child.
Although these physician/family relationships are often just as diverse
as the families themselves, some universal concepts start to emerge Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography.
when listening to parent stories (Table 55.5). Recognizing these themes

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346 Part IV u Learning and Developmental Disorders

insufficiently explored. Many adults with IQ scores in the 60-­75 range

Chapter 56 do not have significant impairments in practical skills. Adaptive behav-
ior deficits also must be distinguished from maladaptive behavior (e.g.,

Developmental Delay and aggression, self-­injury, inappropriate sexual behavior).

Significant impairment in general intellectual function refers to perfor-
mance on an individually administered test of intelligence that is approxi-
Intellectual Disability mately 2 standard deviations (SDs) below the mean. Generally, these tests
provide a standard score that has a mean of 100 and SD of 15 points, so
Meghan E. O’Neill and Bruce K. Shapiro that IQ scores <70 would meet these criteria. If the standard error of mea-
surement is considered, the upper limits of significantly impaired intellec-
tual function may extend to an IQ of 75. Using a score of 75 to delineate ID
Intellectual disability (ID) refers to a heterogeneous group of disor- might double the number of children with this diagnosis, but the require-
ders that have in common deficits of adaptive and intellectual function ment for impairment of adaptive skills limits the false positives. Children
and an age of onset before maturity is reached. In Europe, the term with ID often show a variable pattern of strengths and weaknesses. Not all
learning disability is often used to describe ID. their subtest scores on IQ tests fall into the significantly impaired range.
Onset before age 22 years or adulthood distinguishes dysfunctions
DEFINITION that originate during the developmental period from those that begin
Contemporary conceptualizations of ID emphasize adaptive functioning in adulthood. The diagnosis of ID may be made after 22 years of age,
and social interaction rather than test scores in isolation. The definition but the cognitive and adaptive dysfunction must have been manifested
of ID requires significant impairment in general intellectual function before age 22 years. Age of onset may be relevant to qualification for
(reasoning, memory, learning, problem solving) and adaptive behavior, certain benefits programs that require a diagnosis of ID.
with severity defined by limitations in adaptive functioning or levels of Intellectual disability as nonprogressive. Individuals with ID will
needed support. This focus encourages the development of individual acquire new developmental milestones over time, although at a slower
treatment plans characterizing the supports needed to enhance func- rate than unaffected children. A slowing trajectory is not uncom-
tioning. Consistent across these definitions is onset of symptoms before mon as individuals with ID get older. This should be distinguished
adulthood (18-­22 years of age). Children with ID have a nonprogres- from regression of milestones, which involves true loss of previously
sive disorder; loss of developmental milestones or progressive symptoms acquired skills and demands additional and often more extensive
with a downward developmental trajectory suggest another disorder. etiologic workup. Sometimes regression is seen in the context of the
Significant impairment in adaptive behavior reflects the degree to which child’s larger medical picture, such as loss of mobility with increasing
cognitive dysfunction directly contributes to impairments in daily func- spasticity and contractures in children with comorbid cerebral palsy
tioning at home, at school and work, and in the community. Adaptive (CP) or loss of language skills in the setting of new seizures. Alterna-
behavior refers to the skills required for people to function in their every- tively, regression could suggest a progressive encephalopathy caused
day lives, and individuals with deficits require more support than same-­age by an inborn error of metabolism or a neurodegenerative disorder (see
peers for optimal participation. The American Association on Intellectual Chapters 104 and 639). Prompt identification is essential, as some of
and Developmental Disabilities (AAIDD) and Diagnostic and Statisti- these conditions are treatable or modifiable and some necessitate con-
cal Manual of Mental Disorders, Fifth Edition (DSM-­5) classifications of versations about future reproductive risk.
adaptive behavior address three broad sets of skills: conceptual, social, Global developmental delay (GDD) is a term often used to describe
and practical. Conceptual skills include language, reading, writing, time, young children with delays across multiple domains of development
number concepts, and self-­direction. Social skills include interpersonal that have not yet resulted in a diagnosis of ID. In DSM-­5, GDD is a
skills, personal and social responsibility, self-­esteem, gullibility, naiveté, diagnosis given to children <5 years of age who display significant
and ability to follow rules, obey laws, and avoid victimization. Representa- delay (>2 SDs) in acquiring early childhood developmental milestones
tive practical skills involve performance of activities of daily living (dress- in two or more domains of development. These domains include recep-
ing, feeding, toileting/bathing, mobility), instrumental activities of daily tive and expressive language; gross and fine motor function; cognition,
living (e.g., housework, managing money, taking medication, shopping, social and personal development; and activities of daily living. Typi-
preparing meals, using phone and mail systems), occupational skills, and cally, it is assumed that delay in two domains will be associated with
maintenance of a safe environment. For a deficit in adaptive behavior to be delay across all domains evaluated, including cognitive and intellec-
present, a significant delay in at least one of the three skill areas must be tual abilities. Longitudinal studies following outcomes of children with
present. The rationale for requiring only one area is the empirically derived GDD are sparse but suggest that that upwards of 80% of children with
finding that people with ID can have varying patterns of ability and may early global delays continue to experience development challenges
not have deficits in all three areas. through the school-­age years. However, not all children who meet cri-
The requirement for adaptive behavior deficits is the most controver- teria for a GDD diagnosis at a young age go on to meet criteria for
sial aspect of the diagnostic formulation. The controversy centers on two ID later in childhood. Reasons for the lack of concordance between
broad areas: whether impairments in adaptive behavior are necessary for GDD and later diagnosis of ID include lower reliability and predictive
the construct of ID and what to measure. The adaptive behavior criterion validity of developmental testing in children under 5-­6 years of age; a
may be irrelevant for many children; adaptive behavior is impaired in positive change in developmental trajectory with maturation or pos-
virtually all children who have IQ scores <50. The major utility of the sibly with intervention; reclassification to a different disability category
adaptive behavior criterion is to confirm ID in children with IQ scores (autism, ADHD, developmental coordination disorder); or imprecise
in the 60-­75 range, especially considering the historical overdiagnosis use of the GDD diagnosis initially. Conversely, in patients with more
of ID among individuals of color with typical adaptive functioning and severe early delays, the GDD term is often used beyond the point when
biased IQ testing results. It should be noted that deficits in adaptive the child could be reclassified as having ID, such as when a child has
behavior are often found in disorders such as autism spectrum disor- persistently and markedly low developmental quotients on multiple
der (ASD; see Chapter 58) and attention-­deficit/hyperactivity disorder assessments and despite intervention during the first few years of life.
(ADHD; see Chapter 50) in the presence of typical intellectual function, It is important to distinguish the medical diagnosis of GDD from the
often mediated by significant difficulties with executive functioning, self-­ federal disability classification of “developmental delay” that may be used
directedness, or maladaptive behaviors. In contrast, deficits of adaptive by education agencies under the Individuals with Disabilities Education
functioning in ID are primarily attributable to the individual’s overall Act (IDEA). This classification requires that a child have delays in only one
cognitive limitations. domain of development with subsequent need for special education. Each
The issues of measurement are important as well. The independence state determines its own precise definition and terms of eligibility under
of the three domains of adaptive behavior has not been validated. the broader definition outlined by IDEA, and many states use the label for
The relationship between adaptive behavior and IQ performance is children up to 9 years of age.

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 Chapter 56 u Developmental Delay and Intellectual Disability 347

Table 56. 1  Genetic Testing Guidelines for ID/GDD and/or ASD

ORGANIZATION RECOMMENDATION(S) FOR GENETIC TESTING
Autism and Intellectual Disability • CMA in all individuals with ID/GDD and/or ASD
Committee of the American • FMR1 repeat analysis in males and females with ID or a family history of ID
Academy of Child and • Depending on history and physical examination, consider:
Adolescent Psychiatry • PTEN testing if head circumference (HCM) is more than 2.5 SD above the mean for age in a child with ID/GDD and/or ASD
(AACAP) • MECP2 testing for Rett syndrome in females with severe ID
• Karyotype if a chromosomal syndrome is suspected
• If other investigations do not provide an etiology and there are unresolved clinical findings, consider ES
and mitochondrial DNA testing
American Academy of Pediatrics • If a comprehensive history and exam are indicative of a specific syndrome or disorder, proceed with specific
(AAP) testing in patients with ASD and/or ID/GDD
• In all individuals with ASD and ID/GDD without specific findings, consider CMA and FMR1 CGG repeat
analysis
• In females with ASD and/or ID/GDD without specific findings, consider MECP2 testing
• In males with ID/GDD without specific findings, consider an X-­linked ID panel (XLID)
• If an etiology is not identified, consider a referral to genetics for additional workup, including possible ES
International Standard • CMA is the first-­tier genetic test in patients with GDD/ID, ASD, and/or multiple congenital anomalies
Cytogenomic Array
(ISCA) Consortium
American College of Medical • After a detailed family history and physical examination, proceed with specific testing for patients with ASD
Genetics (ACMG) if a syndrome is suspected or if features are suggestive of a mitochondrial or metabolic condition
• If family history and physical exam are not suggestive of a specific diagnosis, metabolic, or mitochondrial
condition, proceed with CMA for all patients with ASD and FMR1 repeat analysis for all males with ASD
• If CMA (in males and females) and FMR1 repeat analysis (in males) are not diagnostic, consider:
• MECP2 sequencing in all females with ASD
• MECP2 duplication testing in males with ASD if phenotype is suggestive
• PTEN testing in patients with ASD if HCM is more than 2.5 SD above the mean for age
• FMR1 repeat analysis in females with ASD and additional features suggestive of fragile X (e.g., family history and phenotype)

American College of Medical • CMA is the first-­tier genetic test in patients with multiple congenital anomalies that are not indicative of a
Genetics (ACMG) specific genetic syndrome and those with nonsyndromic ID/GDD and ASD
Multidisciplinary Expert • ES in all individuals with ID and/or ASD
Consensus Panel • If ES is nondiagnostic and does not include copy number variant analysis, proceed with CMA
• If ES (and CMA if needed) is nondiagnostic, reanalysis of data from testing should be undertaken periodically
American Academy of • High-­resolution karyotype and FMR1 repeat analysis for patients with ASD that also have ID, family history
Neurology (AAN) and Child of fragile X and/or ID, or dysmorphic features
Neurology Society (CNS) • After obtaining a detailed medical, developmental, and family history for patients with ID/GDD, if a specific
etiology is considered, perform appropriate testing such as single gene testing, metabolic testing, or XLID panel
• If a specific etiology is not suspected, perform CMA (or, if not possible, karyotype and subtelomeric FISH)
for all individuals with ID/GDD, MECP2 testing for females with moderate to severe ID/GDD, and FMR1
repeat analysis in all individuals with mild ID/GDD
• If these and other etiologic workups are negative, consider a referral to genetics
From Savatt JM, Myers SM. Genetic testing in neurodevelopmental disorders. Front Pediatr. 2021;9:526779, Table 3.

ETIOLOGY to seek etiologic answers in patients with ID. These include insight into
Numerous identified causes of ID may occur prenatally, during deliv- possible associated medical or behavioral comorbidities; information
ery, postnatally, or later in childhood. These include infection, trauma, on prognosis and life expectancy; estimation of recurrence risk for fam-
prematurity, hypoxia-­ischemia, toxic exposures, metabolic dysfunction, ily planning counseling, potential validation, and closure for the family;
endocrine abnormalities, malnutrition, and genetic abnormalities. Most increased access to services or specific supports; and better understanding
people with ID will not have a readily identifiable underlying diagno- of underlying pathology with the hope for new treatment options. When
sis based on prenatal or perinatal history or dysmorphology, meriting surveyed, families of children with ID with no identified underlying etiol-
further medical and genetic evaluation. Practice guidelines recommend ogy almost universally report that they would want to know of an etiologic
that an etiologic workup be pursued in all children with ID or GDD diagnosis if given the choice. Expanded testing will contribute to the grow-
when there is not a readily apparent explanation for the child’s presenta- ing pathophysiologic understanding of how ID occurs mechanistically and
tion (Tables 56.1 and 56.2). It is anticipated that these diagnostic guide- serves as an opportunity for future targeted treatment opportunities and
lines change because genome sequencing studies have identified severe clinical trial development.
monogenic etiologies in previously difficult to diagnose developmental Mild and more severe forms of ID have different but overlapping risk
disorders despite extensive previous recommended evaluations. factors and etiologies. Nongenetic risk factors that are often associated
Among children with milder GDD, yield of etiologic workup will likely with mild ID include low socioeconomic status, low maternal educa-
be lower in comparison to children with more significant delays or dis- tion levels, residence in a developing country, malnutrition, and poor
ability. With increases in etiologic testing among all children with ID access to healthcare. The most common biologic causes of, or risk fac-
and advancement of technologic capabilities of testing, the number of tors for, mild ID include intrauterine growth restriction; prematurity;
identified biologic and genetic causes of ID is continuing to increase rap- perinatal insults; intrauterine exposure to drugs of abuse (including
idly. There are slightly over 100 disorders (all of which are metabolic in alcohol); postnatal exposure to neurotoxic substances (including lead);
nature) for which treatment may ameliorate the core symptoms of ID (see some sex chromosomal abnormalities; and some genetic syndromes
https://www.treatable-­id.org/), but these conditions account for a relatively with multiple, major, or minor congenital anomalies (e.g., 22q11 dele-
small percentage of children with ID (Table 56.3). However, there are sev- tion syndrome, sex chromosomal abnormalities, Noonan syndrome).
eral reasons beyond disease modification that should prompt providers Familial clustering is common.

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348
TablePart
56.2 IV Genetic
u Learning and Developmental
Tests Commonly Disorders
Used in Evaluation of Neurodevelopmental Disorders
TEST RESULTS/VARIANTS DETECTED DETECTION LIMITATIONS
Chromosomal • Copy number variants (CNV) • Repetitive DNA sequences, including trinucleotide repeat expansions
microarray (CMA) (generally >250 kb but could be (e.g., FMR1 repeat expansion)
smaller if region is specifically • Balanced chromosomal rearrangements
targeted) • Sequence-­level variants in the exome/genome
• Regions of homozygosity* • Mitochondrial variants
• Epigenetics alterations (e.g., methylation abnormalities, uniparental
heterodisomy)
• Low-­level mosaicism
Exome sequencing • Sequence-­level variants in the • Repetitive DNA sequences, including trinucleotide repeat expansions
(ES) coding region (exome) (e.g., FMR1 repeat expansion)
• Copy number variants** • Balanced chromosomal rearrangements
• Smaller copy number variants, including deletions/duplications involving one
to two exons
• Mitochondrial variants
• Epigenetics alterations (e.g., methylation abnormalities)
• Intronic/noncoding variants
• Variants in regions of the exome that are not well-­covered by sequencing
FMR1 CGG repeat • CGG repeat number in • Sequence-­level variants in FMR1 or elsewhere in the exome/genome
testing the FMR1 gene • Copy number variants
• Balanced chromosomal rearrangements
• Exon-­level deletions/duplications
• Mitochondrial variants
• Epigenetics alterations (e.g., methylation abnormalities)
*Single-­nucleotide polymorphism–based chromosomal microarray (SNP-­CMA)
**Several laboratories are now calling CNVs as a routine part of ES, and this trend will continue to expand.
From Savatt JM, Myers SM. Genetic testing in neurodevelopmental disorders. Front Pediatr. 2021;9:526779, Table 2.

Table 56.3  Conditions in Which Early Treatment May Significantly Improve the Course of the Disease
CONDITION TREATMENT CONDITION TREATMENT
Galactosemia Lactose-­free diet Creatine disorders Creatine monohydrate
Fructosemia Fructose-­free diet Vitamin B12 deficiency Vitamin B12
Phenylketonuria Phenylalanine-­free diet Cerebral glucose transporter Ketogenic diet
defect
Maternal phenylketonuria Phenylalanine-­free diet during
pregnancy Metachromatic leukodystrophy BMT
Maple syrup urine disease Diet restricted in branched-­chain Niemann-­Pick disease BMT, liver transplantation,
amino acids + dialysis or implanted amniotic epithelial cells
exchange transfusion
Adrenoleukodystrophy BMT
Hypoglycemia from any cause Prevent hypoglycemia and/or
provide glucose Glycogen storage disease type IV Liver transplantation

Lead intoxication Separate child from source of Menkes disease Parenteral copper histidinate
lead; chelation therapy Lesch-­Nyhan syndrome Allopurinol + BMT
Hypothyroidism Thyroid replacement Krabbe disease BMT
Recurrent otitis media Antibiotic prophylaxis, pressure-­ α-­Mannosidosis ERT: velmanase alfa
equalizing tubes
Aspartylglucosaminuria BMT
Malnutrition Adequate nutrition
Gaucher disease type III ERT: Ceredase; SRT: Cerdelga;
Increased intracranial pressure Shunt ventricles or cystic structure PCT: Mucosolvan
(e.g., hydrocephalus, neoplasm)
Hunter syndrome (MPS II) ERT: Elaprase
Congenital HIV infection Prenatal/postnatal treatment with
AZT (zidovudine) Hurler syndrome (MPS I) ERT: Aldurazyme
Congenital toxoplasmosis Prenatal treatment with Sanfilippo syndrome A (MPS IIIa) SRT: Genistein
spiramycin, pyrimethamine,
and sulfonamide Sanfilippo syndrome B (MPS IIIb) SRT: Genistein

Dopa-­responsive dystonia Responds to levodopa; may be Sanfilippo syndrome C (MPS IIIc) SRT: Genistein
misdiagnosed as cerebral palsy Sanfilippo syndrome D (MPS IIId) SRT: Genistein
Biotinidase deficiency Oral biotin Sly syndrome (MPS VII) ERT: Mepsevii
Biotin-­thiamine–responsive Biotin, thiamine Neuronal ceroid lipofuscinosis ERT: Brineura
basal ganglia disease type II
Wilson disease Copper chelation; liver transplant
Cerebral folate disorder Folinic acid
BMT, Bone marrow transplant; ERT, enzyme replacement therapy; MPS, mucopolysaccharidosis; PCT, pharmacologic chaperone therapy; SRT, substrate reduction therapy.
From Muriello M. Neurocognitive and developmental regression. In: Kliegman RM, Toth H, Bordini BJ, Basel D (eds). Nelson Pediatric Symptom-­Based Diagnosis, 2nd ed.
Philadelphia: Elsevier; 2023: Table 28.10, p. 481.
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 Chapter 56 u Developmental Delay and Intellectual Disability 349

Table 56.4  Identification of Causes in Children with Significant Intellectual Disability

CAUSE EXAMPLES % OF TOTAL
Chromosomal disorder Trisomies 21, 18, 13 ∼20
Deletions 1p36, 4p, 5p, 11p, 12q, 17p, others
Microdeletions
Klinefelter, 47,XXX, and Turner syndromes
Genetic syndrome Fragile X, Prader-­Willi, Angelman, and Rett ∼20
syndromes
Nonsyndromic autosomal mutations Variations in copy number; de novo mutations ∼10
in SYNGAP1, GRIK2, TUSC3, oligosaccharyl
transferase, and others
Developmental brain abnormality Hydrocephalus ± meningomyelocele; ∼8
schizencephaly, lissencephaly
Inborn errors of metabolism or Phenylketonuria, ceroid lipofuscinosis, ∼7
neurodegenerative disorder Tay-­Sachs disease, other storage diseases
Congenital infections HIV, toxoplasmosis, rubella, cytomegalovirus, ∼3
syphilis, herpes simplex, Zika virus
Familial intellectual disability Environment, syndromic, or genetic ∼5
Perinatal causes Hypoxic-­ischemic encephalopathy, meningitis, 4
intraventricular hemorrhage, periventricular
leukomalacia, fetal alcohol syndrome
Postnatal causes Trauma (abuse), meningitis, nutritional ∼4
deficiencies, hypothyroidism
Unknown 20
Adapted from Stromme P, Hayberg G. Aetiology in severe and mild mental retardation: A population-­based study of Norwegian children. Dev Med Child Neurol. 2000;42:76–86.

In children with more severe ID, a biologic cause (usually with pre- mild ID and 1.5:1 in severe ID. In part this may be a consequence of
natal onset) can be identified in about three fourths of all cases. Causes the many X-­linked disorders associated with ID, the most common
include chromosomal (e.g., Down, Wolf-­Hirschhorn, and deletion 1p36 being fragile X syndrome (see Chapter 59).
syndromes) and other genetic and epigenetic disorders (e.g., fragile X, In the United States the prevalence of ID in school-­age children ranges
Rett, and Angelman syndromes), abnormalities of brain development from 1.1% to 1.8%. There are several reasons why fewer children are iden-
(e.g., lissencephaly), and inborn errors of metabolism and mitochon- tified as having mild ID than predicted from statistics. Professionals might
drial disorders (e.g., mucopolysaccharidoses, mitochondrial respiratory miss or defer the diagnosis and “give the benefit of the doubt” to the child
chain complex disorders) (Table 56.4). Nonsyndromic severe ID may be and await repeated confirmatory testing over time because it is more chal-
a result of inherited or de novo gene mutations, as well as microdele- lenging to diagnose mild ID than the more severe forms. Other reasons
tions or microduplications. Currently, >1,300 single genes have been that contribute to the discrepancy between predicted and observed preva-
associated with ID. Inherited genetic abnormalities may be mendelian lence are use of instruments that under­identify young children with mild
(autosomal dominant de novo, autosomal recessive, X-­linked) or non- ID, children diagnosed as having ASD without their ID being recognized
mendelian (imprinting, methylation, mitochondrial defects; see Chapter or addressed, misdiagnosis as a language disorder or specific learning dis-
97). De novo mutations may also cause other phenotypic features such ability, and a disinclination to make the diagnosis in minoritized students
as seizures or autism; the presence of these features suggests more pleo- because of concern about biased assessments that historically led to over-
tropic manifestations of genetic mutations. Consistent with the finding diagnosis. In some cases, behavioral disorders may divert the focus from
that disorders altering early embryogenesis are the most common and the cognitive dysfunction.
severe, the earlier the problem occurs in development, the more severe Beyond potential under diagnosis of mild ID, the number of chil-
its consequences tend to be. dren with mild ID may be decreasing because of public health and edu-
cation measures to prevent prematurity and provide early intervention
EPIDEMIOLOGY and Head Start programs. However, although the number of school
ID is one of the most common causes of disability in children glob- children who receive services under a federal disability classification of
ally. The prevalence of ID depends on the definition, method of ID has decreased since 1999, when developmental delay is included in
ascertainment, and population studied, both in terms of geography analysis of the data, the numbers have not changed appreciably.
and age. According to the statistics of a normal distribution, 2.5% The prevalence of severe ID has not changed significantly since the 1940s,
of the population should have ID (based on IQ alone), and 75% accounting for 0.3–0.5% of the population. Many of the causes of severe
of these individuals should fall into the mild to moderate range. ID involve genetic or congenital brain malformations that can neither be
Variability in rates across populations likely results from the heavy anticipated nor treated at present, though trends toward more expanded
influence of external environmental factors and definitional differ- prenatal screening (and subsequent termination) may alter this balance,
ences on the prevalence of mild ID. The prevalence of severe ID is as seen with the decreasing incidence of Down syndrome. Additionally,
relatively stable. Globally, the prevalence of ID has been estimated expanded newborn screening with early treatment has virtually eliminated
to be approximately 16.4 per 1,000 persons in low-­income coun- ID caused by phenylketonuria and congenital hypothyroidism. However,
tries, approximately 15.9/1,000 for middle-­income countries, and continued high prevalence of fetal exposure to alcohol and illicit drugs,
approximately 9.2/1,000 in high-­income countries. A meta-­analysis improved survival of very low birthweight premature infants, and increas-
of worldwide studies from 1980 to 2009 yielded an overall preva- ing overall maternal age during pregnancy (contributing to increased rates
lence of 10.4/1,000. ID occurs more in boys than in girls, at 2:1 in of genetic abnormalities) have counterbalanced this effect.

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350 Part IV u Learning and Developmental Disorders

PATHOLOGY AND PATHOGENESIS preventing seizures, neurodevelopmental disabilities, retinal tumors,

The limitations in our knowledge of the neuropathology of ID are dem- cutaneous tumors, and other manifestations seen in tuberous sclerosis
onstrated by the finding that 10–20% of brains of persons with severe (see Chapter 636.2).
ID appear normal on standard neuropathologic study. Many of the
brains that appear abnormal show only mild, nonspecific changes that CLINICAL MANIFESTATIONS
correlate poorly with the degree of ID, including microcephaly, gray Early diagnosis of ID facilitates earlier intervention, identification of
matter heterotopias in the subcortical white matter, unusually regular abilities, realistic goal setting, monitoring for potential comorbid con-
columnar arrangement of the cortex, and neurons that are more tightly ditions, easing of parental anxiety, and greater inclusion of the child
packed than usual. Only a minority of the brains show more specific in the community. Children with ID may first come to the pediatri-
changes in dendritic and synaptic organization, with dysgenesis of cian’s attention because of dysmorphisms (often in infancy), associated
dendritic spines or cortical pyramidal neurons or impaired growth of developmental disabilities, or failure to meet age-­appropriate develop-
dendritic trees. CNS maturation is defined by genetic, molecular, auto- mental milestones (Tables 56.5 and 56.6). Physical exam findings are
crine, paracrine, and endocrine influences. Receptors, signaling mol- nonspecific, but constellations of dysmorphisms may be consistent
ecules, and genes are critical to brain development. with certain genetic syndromes. With the advent of more sophisti-
As the ability to identify genetic aberrations that correspond to cated genetic testing, the limitations of dysmorphology have become
particular phenotypes expands through the use of next-­generation more apparent given the phenotypic variability seen with many genetic
sequencing, more will be elucidated about the pathogenesis of ID at a causes of ID.
genetic and molecular level. This expanding pathophysiologic knowl- Most children with ID lag behind peers in their acquisition of devel-
edge base may serve as a framework with which to develop targeted opmental skills. In early infancy, failure to meet age-­appropriate expec-
therapies to bypass or correct newly identified defects. For example, tations can include a lack of visual or auditory responsiveness, unusual
use of histone deacetylase (HDAC) inhibitors has been shown to rescue muscle tone (hypotonia or hypertonia), or posture and feeding difficul-
structural and functional neural deficits in mouse models of Kabuki ties. Between 6 and 18 months of age, gross motor delay (lack of sit-
syndrome, a disorder of histone methylation that leads to variable levels ting, crawling, walking) is the most common concern. Language delay
of ID and characteristic facial features. Similarly, there is growing inter- and behavior problems are common concerns after 18 months of age
est in the role of mammalian target of rapamycin (mTOR) inhibitor use (see Table 56.6). For some children with mild ID, the diagnosis remains

Table 56.5  Physical Examination of a Child with Suspected Developmental Disabilities

ITEM POSSIBLE SIGNIFICANCE
General appearance May indicate significant delay in development or obvious syndrome
STATURE
Short stature Malnutrition, many genetic syndromes are associated with short stature (e.g., Turner, Noonan)
Obesity Prader-­Willi syndrome
Large stature Sotos syndrome, Sotos-­like syndromes
HEAD
Shape Flat occiput: Down syndrome, Zellweger syndrome; prominent occiput: trisomy 18
Delayed closure of sutures: hypothyroidism, hydrocephalus
Craniosynostosis: Crouzon syndrome, Pfeiffer syndrome
Delayed fontanel closure: hypothyroidism, Down syndrome, hydrocephalus, skeletal dysplasia
Macrocephaly Alexander syndrome, Canavan disease, Sotos syndrome, gangliosidosis, hydrocephalus,
mucopolysaccharidosis, subdural effusion
Microcephaly Virtually any condition that can restrict brain growth (e.g., malnutrition, Angelman syndrome, Cornelia
de Lange syndrome, fetal alcohol effects)
FACE
Specific measurements may Midface hypoplasia: fetal alcohol syndrome, Down syndrome
provide clues to inherited, Triangular facies: Russell-­Silver syndrome, Turner syndrome
metabolic, or other diseases Coarse facies: mucopolysaccharidoses, Sotos syndrome
Prominent nose and chin: fragile X syndrome
Flat facies: Apert syndrome, Stickler syndrome
Round facies: Prader-­Willi syndrome
Hypotelorism or hypertelorism; slanted or short palpebral fissure; unusual nose, maxilla, and mandible
Nose Anteverted nares/synophrys: Cornelia de Lange syndrome
Broad nasal bridge: fetal drug effects, fragile X syndrome
Low nasal bridge: achondroplasia, Down syndrome
Prominent nose: Rubenstein Taybi, Coffin-­Lowry syndrome, Smith-­Lemli-­Opitz syndrome
Mouth Long philtrum/thin vermilion border: fetal alcohol effects
Cleft lip and palate: isolated or part of a syndrome
Micrognathia: Pierre Robin sequence, trisomies, Stickler syndrome
Macroglossia: hypothyroidism, Beckwith-­Wiedemann syndrome
Teeth Anodontia: ectodermal dysplasia
Notched incisors: congenital syphilis
Late dental eruption: Hunter syndrome, hypothyroidism
Talon cusps: Rubinstein-­Taybi syndrome
Wide-­spaced teeth: Cornelia de Lange syndrome, Angelman syndrome

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 Chapter 56 u Developmental Delay and Intellectual Disability 351

Table 56.5  Physical Examination of a Child with Suspected Developmental Disabilities—cont’d

ITEM POSSIBLE SIGNIFICANCE
EYES
Set Hypertelorism: fetal hydantoin syndrome, Waardenburg syndrome
Hypotelorism: holoprosencephaly sequence, maternal phenylketonuria effect
Prominent Crouzon, Seckel, Apert syndrome; Beckwith-­Wiedemann syndrome and fragile X syndromes
Iris/sclera Brushfield spots: Down syndrome
Lisch nodules: neurofibromatosis
Blue sclera: osteogenesis imperfecta, Turner syndrome, hereditary connective tissue disorders
Cataract Galactosemia, Lowe syndrome, prenatal rubella, hypothyroidism
Cherry-­red spot in macula Gangliosidosis (GM1), metachromatic leukodystrophy, mucolipidosis, Tay-­Sachs disease, Niemann-­Pick
disease, Farber lipogranulomatosis, sialidosis type III
Chorioretinitis Congenital infection with cytomegalovirus, toxoplasmosis, Zika virus, or rubella
Corneal cloudiness Mucopolysaccharidosis types I and II, Lowe syndrome, congenital syphilis
EARS
Low-­set or malformed Trisomies such as Down syndrome, Rubinstein-­Taybi syndrome, CHARGE syndrome,
pinnae cerebrooculofacioskeletal syndrome, Treacher Collins syndrome, fetal phenytoin effects
Hearing Loss of acuity in mucopolysaccharidosis; hyperacusis in many encephalopathies
HEART
Structural anomaly or CHARGE syndrome, velocardiofacial syndrome, glycogenosis type II, fetal alcohol effects,
hypertrophy mucopolysaccharidosis type I; chromosomal anomalies such as Down syndrome; maternal PKU;
chronic cyanosis may impair cognitive development
LIVER
Hepatomegaly Fructose intolerance, galactosemia, glycogenosis types I-­IV, mucopolysaccharidosis types I and II,
Niemann-­Pick disease, Tay-­Sachs disease, Zellweger syndrome, Gaucher disease, ceroid
lipofuscinosis, gangliosidosis
GENITALIA
Macroorchidism Fragile X syndrome
Hypogenitalism Prader-­Willi, Klinefelter, and CHARGE syndromes
EXTREMITIES
Hands, feet; May indicate a specific entity such as Rubinstein-­Taybi syndrome or may be associated with
dermatoglyphics, creases chromosomal anomaly
Short limbs: achondroplasia, rhizomelic chondrodysplasia
Small hands: Prader-­Willi syndrome
Clinodactyly: trisomies, including Down syndrome
Polydactyly: trisomy 13, ciliopathies
Broad thumb: Rubinstein-­Taybi syndrome
Syndactyly: de Lange syndrome Smith Lemli Opitz
Transverse palmar crease: Down syndrome
Joint laxity: Down syndrome, fragile X syndrome, Ehlers-­Danlos syndrome
Phocomelia: Cornelia de Lange syndrome
Joint contractures Signs of muscle imbalance around the joints (e.g., with meningomyelocele, cerebral palsy, arthrogryposis,
muscular dystrophy; also occurs with cartilaginous problems such as mucopolysaccharidosis)
Williams syndrome
SKIN
Café-­au-­lait spots Neurofibromatosis, Legius syndrome, tuberous sclerosis, chromosomal aneuploidy,
ataxia-­telangiectasia, multiple endocrine neoplasia type 2b
Fanconi anemia, Gaucher disease
Syndromes: basal cell nevus; McCune-­Albright, Silver-­Russell, Bloom, Chediak-­Higashi, Hunter,
Bannayan-­Riley-­Ruvalcaba, Maffucci syndromes
Seborrheic or eczematoid rash PKU, histiocytosis
Hemangiomas and Sturge-­Weber syndrome, Bloom syndrome, ataxia-­telangiectasia; Klippel Trenaunay Weber
telangiectasia
Hypopigmented macules, Tuberous sclerosis, hypomelanosis of Ito
streaks, adenoma sebaceum
Hair Hirsutism: De Lange syndrome, mucopolysaccharidosis, fetal phenytoin effects, cerebrooculofacioskeletal
syndrome, trisomy 18, Hurler syndrome
Low hairline: Klippel-­Feil sequence, Turner syndrome
Sparse hair: Menkes disease, argininosuccinic acidemia, biotin deficiency
Abnormal hair whorls/posterior whorl: chromosomal aneuploidy (e.g., Down syndrome)
Hypertrichosis cubiti (elbows): Wiedemann-­Steiner, MacDermot-­Patton-­Williams syndromes
Abnormal eyebrow patterning: Cornelia de Lange syndrome
Continued

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352 Part IV u Learning and Developmental Disorders

Table 56.5  Physical Examination of a Child with Suspected Developmental Disabilities—cont’d

ITEM POSSIBLE SIGNIFICANCE
Nails Hypoplastic or dysplastic: fetal alcohol, trisomies, Coffin Siris syndrome
NEUROLOGIC
Asymmetry of strength and tone Focal lesion, hemiplegic cerebral palsy
Hypotonia Prader-­Willi, Down, and Angelman syndromes; gangliosidosis; early cerebral palsy; muscle disorders
(dystrophy or myopathy)
Hypertonia Neurodegenerative conditions involving white matter, cerebral palsy, trisomy 18
Ataxia Ataxia-­telangiectasia, metachromatic leukodystrophy, Angelman syndrome
Spine Sacral dimple/hairy patch: spina bifida
OTHER
Neck Webbed neck/low posterior hairline: Turner syndrome, Noonan syndrome
Chest Shield-­shaped chest: Turner syndrome
Inverted nipples; congenital disorders of glycosylation
CHARGE, Coloboma, heart defects, atresia choanae, retarded growth, genital anomalies, ear anomalies (deafness); CATCH-­22, cardiac defects, abnormal face, thymic hypoplasia,
cleft palate, hypocalcemia, defects on chromosome 22; PKU, phenylketonuria.
Modified from Simms M. Intellectual and developmental disability. In: Kliegman RM, Lye PS, Bordini BJ, et al, (eds). Nelson Pediatric Symptom-­Based Diagnosis. Philadelphia:
Elsevier; 2018: Table 24.11, p. 376.

history and physical examination, chromosomal microarray and test-

Table 56.6  Common Presentations of Intellectual Disability ing for fragile X syndrome are often the recommended first steps in
by Age the etiologic evaluation of ID. Other testing to consider in the etiologic
AGE AREA OF CONCERN evaluation include exome or whole genome sequencing, neuroimag-
ing, metabolic testing, and electroencephalography (Fig. 56.1).
Newborn Dysmorphic syndromes, (multiple Decisions to pursue an etiologic diagnosis should be based on the
congenital anomalies), microcephaly
Major organ system dysfunction (e.g.,
medical and family history, physical examination, and the family’s
feeding, breathing) wishes. Table 56.7 summarizes clinical practice guidelines and the
yields of testing to assist in decisions about evaluating the child with
Early infancy (2-­4 mo) Failure to interact with the environment GDD or ID. Yield of testing tends to increase with worsening severity
Concerns about vision and hearing of delays (see also Tables 56.1 and 56.2).
impairments Microarray analysis has replaced a karyotype as first-­tier testing,
Later infancy (6-­18 mo) Gross motor delay given that it discerns abnormalities that are far below the resolution
of a karyotype. Microarray analysis will detect copy number varia-
Toddlers (2-­3 yr) Language delays or difficulties
tions but may result in identification of variants of unknown signifi-
Preschool (3-­5 yr) Language difficulties or delays cance or benign variants and therefore should be used in conjunction
Behavior difficulties, including play with a genetic consultation. Karyotyping has a role when concerns
Delays in fine motor skills: cutting, for trisomy, inversions, balanced insertions, and reciprocal translo-
coloring, drawing cations are present. If microarray analysis is not diagnostic, whole
School age (>5 yr) Academic underachievement exome sequencing (WES) increases the diagnostic yield in children
Behavior difficulties (e.g., attention, with nonsyndromic severe ID, especially when associated conditions
anxiety, mood, conduct) such as autism, epilepsy, or movement disorders are present. WES
will identify nucleotide sequence variants within the coding region of
genes which affect protein function, missing structural and noncod-
uncertain during the early years and becomes clearer as the demands of ing variants, and trinucleotide repeat disorders. Starting with WES
the school setting increase. may be more cost-­effective and may substantially reduce time to diag-
With increasing expectations for independence at home and socially, nosis with higher ultimate yields compared with the traditional diag-
limitations among those with mild ID become more salient. Older school-­ nostic pathway. Whole genome sequencing, which identifies variants
age children and adolescents with mild ID are typically up to date on within both exons and introns, represents the most comprehensive
current trends and are conversant as to “who,” “what,” and “where.” It is sequencing option, providing roughly 3,000 times more data than a
not until the “why” and “how” questions are asked that their limitations microarray. Multimodal genome-wide analysis has identified mono-
become apparent. If allowed to interact at a superficial level, their mild ID genic etiologies in difficult to diagnose patients when previous testing
might not be appreciated, even by professionals such as healthcare pro- did not reveal a diagnosis.
viders. Because of the stigma associated with ID, adolescents may refer Molecular genetic testing for fragile X syndrome is currently rec-
to themselves as learning disabled, dyslexic, language disordered, or slow ommended, although a relatively low diagnostic yield has led some to
learners. Some people with ID emulate their social milieu to be accepted. suggest that this should not be considered a first-­line test for all chil-
Adolescents with mild ID are both at high risk of being bullied and of dren with ID or GDD. Yields are highest in males with moderate ID,
being taken advantage of from a social perspective. unusual physical features, and/or a family history of ID or for females
with more subtle cognitive deficits associated with severe shyness and
ETIOLOGIC EVALUATION a relevant family history, including premature ovarian failure or later-­
ID is one of the most frequent reasons for referral to pediatric genetic onset tremor-­ataxia symptoms (see Chapter 59). For children with a
providers, with separate but similar etiologic evaluation guidelines strong history of X-­linked ID, specific testing of genes or the entire
(see Table 56.1). ID is a diagnosis of great clinical heterogeneity, with chromosome may be revealing. Testing for Rett syndrome (methyl
only a subset of syndromic etiologies identifiable through classic dys- CpG–binding protein 2 [MECP2]) should be considered in females
morphology. If diagnosis is not made after conducting an appropriate with moderate to severe disability, though WES may supplant this.

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 Chapter 56 u Developmental Delay and Intellectual Disability 353

Global Developmental Delay / Intellectual Disability

Family, personal history; physical exam, hearing and vision screening, and psychoeducational evaluation to determine accurate phenotype or signs of regression

Dysmorphology / Multiple Congenital Anomalies Features Unexplained GDD/ID

High-Risk Features Including Regression

Genetic Microarray
Fragile X
Imaging to define anomalies Features in the history Regression or significant change behavior Biochemical and metabolic
Possible or definite seizures Blood tests TFT
Movement disorder: continuous or paroxysmal AA
Muscle pain/fatigue Homocysteine
New onset sensory impairment; significant decline in Acylcarnitine profile
visual acuity or hearing Lactate + pyruvate
Ammonia
Microarray
Examination findings Neurological signs: dystonia, ataxia, chorea, focal signs, cranial nerve Uric acid
Standard chromosome
signs, muscle weakness/signs of a peripheral neuropathy, Urine tests OA
Prader Willi methylation test
arthrogryposis/joint contractures, cerebral palsy picture without a GAG
History of teratogens
clear cause Oligosaccharides
Glycosaminoglycans
Ocular signs: nystagmus, eye movement disorder, abnormal fundi, Creatine/GAA
Oligosaccharides
cataract, ptosis Purine and pyrimidines
Sensorineural deafness Other Autism screening
Neurocutaneous lesions
Organomegaly / cardiomegaly

WES / WGS

MRI/MRS especially with macrocephaly/microcephaly, regression Gene Testing

EEG if seizures suspected Targeted screening based on clinical
differential diagnosis
This could include:
• Fragile X
Biochemical testing as indicated based on presence of white matter disease, basal ganglia involvement • Rett and Rett-like syndromes
Testing for congenital disorders of glycosylation • Angelman and similar disorders
Plasma VLCFA, pipecolic acid, phytanic acid, RBC plasmalogens Panel based testing:
Serum 7-dehydrocholesterol • XLID panel if X-linked inheritance
Ceruloplasmin, CSF glucose, lactate, pyruvate, glycine, folate, neurotransmitters Autism-associated genetic disorders
• PTEN related syndromes
• TSC and similar disorders
WES / WGS

Fig. 56.1 Algorithm for the evaluation of the child with unexplained global developmental delay (GDD) or intellectual disability (ID). AA, Amino
acids; ASD, autistic spectrum disorder; CK, creatine kinase; CSF, cerebrospinal fluid; FBC, full blood count; GAA, guanidinoacetic acid; GAG, gly-
cosaminoglycans; LFT, liver function test; OA, organic acids; TFT, thyroid function tests; TSC, tuberous sclerosis complex; U&E, urea and electrolytes;
VLCFA, very long-­chain fatty acids; WES, whole exome sequencing; WGS, whole genome sequencing; XLID, X-­linked intellectual disability genes.

A child with a progressive neurologic disorder, developmental of a specific disorder, increasing the likelihood that a diagnosis will
regression, or acute behavioral changes needs metabolic investiga- be made? Are the parents planning on having additional children,
tion, as shown in Figure 56.1. Some advocate for metabolic testing to and does the patient have siblings? If so, one may be more likely to
be done more frequently in children with ID because of the possibility intensively seek disorders for which prenatal diagnosis or a specific
of detecting a condition that could be treatable (Fig. 56.2, Tables 56.3 early treatment option is available.
and 56.8), though with expanded newborn screening many of these u Is there a potentially treatable disorder?
conditions can be identified at birth. This is most relevant for children u What are the parents’ wishes? Some parents have little interest in
born in countries without widespread newborn screening initiatives, searching for the cause of the ID, whereas others become so focused
especially when there is a history of consanguinity. In the absence of on obtaining a diagnosis that they have difficulty following through
a specific indication, an electroencephalogram (EEG) is typically of on interventions until a cause has been found. The entire spectrum
low diagnostic utility and should be reserved for evaluation of clinical of responses must be respected, and supportive guidance should be
events that may represent seizures or when significant language regres- provided.
sion occurs, which may be concerning for Landau-­Kleffner syndrome.
MRI of the brain may provide useful information in directing the care DIFFERENTIAL DIAGNOSIS
of a child with microcephaly or macrocephaly, change in head growth One of the important roles of pediatricians is the early recogni-
trajectory, asymmetric head shape, new or focal neurologic findings, tion and diagnosis of cognitive deficits. Developmental surveil-
or seizures. MRI can detect a significant number of subtle markers lance should be multifaceted. Parents’ concerns and observations
of cerebral dysgenesis in children with ID, but these markers do not about their child’s development should be listened to carefully.
usually suggest a specific etiologic diagnosis, and the risk of anesthe- Medical, genetic, and environmental risk factors should be recog-
sia may outweigh the potential benefits in young children without any nized. Infants at high risk (prematurity, maternal substance abuse,
additional concerning signs or symptoms. perinatal insult) should be registered in newborn follow-­up pro-
Some children with subtle physical or neurologic findings can also grams in which they are evaluated periodically for developmen-
have determinable biologic causes of their ID (see Tables 56.5 and tal lags in the first 2 years of life; they should be referred to early
56.6). How intensively one investigates the cause of a child’s ID is based intervention programs as appropriate. Developmental milestones
on the following factors: should be recorded routinely during healthcare maintenance visits.
u What is the degree of delay, and what is the age of the child? If milder The American Academy of Pediatricians (AAP) has formulated a
or less pervasive delays are present, especially in a younger child, schema for developmental surveillance and screening at 9, 18, 24,
etiologic yield is likely to be lower. and 30 months of age, including general developmental and autism
u Is the medical history, family history, or physical exam suggestive screens (see Chapter 28).

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354 Part IV u Learning and Developmental Disorders

Table 56.7  Suggested Evaluation of the Child with Intellectual Disability (ID) or Global Developmental Delay (GDD)
TEST COMMENT
In-­depth history Includes prenatal, perinatal, and postnatal events (including seizures); developmental attainments; and
three-­generation pedigree in family history (focusing on neurologic or developmental abnormalities,
miscarriages, consanguinity, etc.)
Physical examination Particular attention to minor or subtle dysmorphisms; growth issues; neurocutaneous findings; eye and
skull abnormalities; hepatosplenomegaly; and neurologic examination for focality
Behavioral phenotype
Vision and hearing evaluation Essential to detect and treat; can mask as developmental delay
Gene microarray analysis A ∼15% yield overall
Better resolution than with karyotype; may identify up to twice as many abnormalities as karyotyping
Often included in exome testing
Karyotype No longer a first-­line test
Reserve use when concerned for trisomic/monosomic conditions, inversions and balanced insertions, or
reciprocal translocations
Fragile X screen Combined yield of 2%, preselection on clinical grounds can increase yield to 7.6%
Next-­generation gene sequencing Detects inherited and de novo point mutations, especially in nonsyndromic severe intellectual disability
Whole exome sequencing gives an additional yield of about 30–40%
Pilot studies of whole genome sequencing (WGS) reveal additional yield of about 15%
Neuroimaging MRI preferred; positive findings increased by abnormalities of skull contour or microcephaly and
macrocephaly or focal neurologic examination (30–40% if indicated, 10–14% if screening)
Identification of specific etiologies is rare; most conditions that are found do not alter the treatment plan;
need to weigh risk of sedation against possible yield
Thyroid (T4, TSH) Near 0% in settings with universal newborn screening program
Serum lead If there are identifiable risk factors for excessive environmental lead exposure (e.g., low socioeconomic
status, home built before 1950)
Metabolic testing Yield of 0.2–4.6% based on clinical indicators and tests performed
Urine organic acids, plasma amino acids, ammonia, lactate, and capillary blood gas
Focused testing based on clinical findings is warranted if lack of newborn screen results or suggestive
history/exam (e.g., regression, consanguinity, hepatosplenomegaly, course facies)
Tandem mass spectrometry newborn screening has allowed for identification of many disorders in the perinatal
period and has decreased yield in older children; other disorders have emerged, such as congenital
disorders of glycosylation (yield 1.4%) and disorders of creatine synthesis and transport (yield 2.8%)
MECP2 for Rett syndrome 1.5% of females with criteria suggestive of Rett (e.g., acquired microcephaly, loss of skills)
0.5% of males
EEG May be deferred in absence of history of seizures or significant language regression
Repeated history and physical Can give time for maturation of physical and behavioral phenotype; new technology may be available for
examination evaluation
EEG, Electroencephalogram; CGH, comparative genomic hybridization; MECP2, methyl CpG–binding protein 2; T4, thyroxine; TSH, thyroid-­stimulating hormone.
Data from Michelson DJ, Shevell MI, Sheer EH, et al. Evidence report. Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards
Subcommittee of the American Academy of Neurology and the Practice Committee of Child Neurology. Neurology. 2011;77:1629–1635; Curry CJ, Stevenson RE, Aughton D, et al.
Evaluation of mental retardation: Recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet. 1997;12:72:468–477; Shapiro BK, Batshaw
ML. Mental retardation. In: Burg FD et al: Gellis and Kagan’s Current Pediatric Therapy, 18th ed, Philadelphia: Saunders; 2005; and Shevell M, Ashwal S, Donley D, et al. Practice
parameter: Evaluation of the child with global developmental delay. Neurology. 2003;60:367–380.

Before making the diagnosis of ID, other disorders that affect cogni- diagnostic assessment often hinges on evaluation by a professional with
tive abilities and adaptive behavior should be considered. These include experience with this population.
conditions that mimic ID and others that involve ID as an associated In ASD, social communication and social adaptive skills are more
impairment. Sensory deficits (severe hearing and vision loss), com- affected than nonverbal reasoning skills, whereas in ID, there are usu-
munication disorders, refractory seizure disorders, poorly controlled ally more equivalent deficits in social, fine motor, adaptive, and cogni-
mood disorders, or unmanaged severe attention deficits can mimic tive skills. The discrepancy between social communication abilities and
ID; certain progressive neurologic disorders can appear as ID before overall developmental abilities and the presence, severity, and intensity
regression is appreciated. Approximately half of children with cere- of restricted and repetitive behaviors differentiates whether an individ-
bral palsy (see Chapter 638.1) and one third of children with autism ual has ID alone or a comorbid diagnosis of ASD. Among toddlers with
spectrum disorder (see Chapter 58) also have ID. Differentiation of ASD, those with lower verbal and nonverbal cognitive test scores in
isolated CP from ID relies on motor skills being more affected than conjunction with poor adaptive skills have an 85–90% chance of being
cognitive skills and on the presence of pathologic reflexes and tone classified as having ID in adulthood. However, across all levels of cog-
changes. Importantly, cognitive testing may be limited because of nition in ASD, there is a significant trend toward much lower adaptive
motor and communication impairments in CP such that an accurate functioning than would be expected otherwise.

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 Chapter 56 u Developmental Delay and Intellectual Disability 355

Urine Tests
β-Ketothiolase Deficiency Glutaric Acidemia type II MHBD Deficiency
Cobalamin A Deficiency HMG-CoA Lyase Deficiency mHMG-CoA Synthase Deficiency
Cobalamin B Deficiency Holocarboxylase Synthetase Deficiency I.o. Propionic Acidemia (&ACP)
Cobalamin C Deficiency (&tHcy) Homocystinuria SCOT Deficiency
Urine Organic Acids (n=22) Cobalamin D Deficiency (&tHcy) SSADH Deficiency
I.o. Isovaleric Acidemia (&ACP)
Cobalamin F Deficiency (&tHcy) 3-Methylcrotonyl Glycinuria (&ACP) Tyrosinemia type II (&PAA)
Ethylmalonic Encephalopathy (&ACP) 3-Methylglutaconic Aciduria
Glutaric Acidemia type I I.o. Methylmalonic Acidemia (&ACP)

Hunter syndrome (MPS II) Sanfilippo syndrome (type a, b, c, d)

Urine Glycosaminoglycans (n=7)
Hurler syndrome (MPS I) Sly syndrome (MPS VI)

AGAT deficiency Creatine

Urine Creatine Metabolites (n=3) GAMT deficiency Transporter Defect

α-Mannosidosis
Urine Oligosaccharides (n=2)
Aspartylglucosaminuria

Pyrimidine 5’nucleotidase
superactivity
Urine Purines & Pyrimidines (n=2)
Molybdenum Cofactor Type A
deficiency
Blood Tests
I.o. Argininosuccinic Aciduria HHH syndrome I.o. OTC Deficiency
I.o. Citrullinemia Maple Syrup Urine Disease Phenylketonuria
Plasma Amino-Acids (n=13) I.o. Citrullinemia Type II (Variant) PDH Complex Deficiency
I.o. CPS Deficiency I.o. MTHFR Deficiency (&tHcy) Tyrosinemia type II (&UOA)
I.o. Argininemia I.o. NAGS Deficiency

Homocystinuria (&UOA) Cobalamin E Deficiency

I.o. MTHFR Deficiency (&PAA) Cobalamin F Deficiency (&UOA)
Plasma Total Homocysteine (n=9) Cobalamin C Deficiency (&UOA) Cobalamin G Deficiency
Cobalamin D Deficiency (&UOA)

Fig. 56.2 Summary of treatable inherent errors of metabolism (IEM) that can be detected by metabolic tests in affected children, each of which is
affordable and accessible and has the potential to identify at least 2 IEM (and up to 22). Each bar represents the yield of the specific screening test
and lists the number and types of treatable IEM it can identify. PAA, Plasma amino acids; tHcy, total homocysteine; ACP, plasma acylcarnitine profile;
UOA, urine organic acids. (From van Karnebeek CD, Stockler S. Treatable inborn errors of metabolism causing intellectual disability: A systematic
literature review. Mol Genet Metab. 2012;105:368–381, Fig. 1, p. 374.)

Table 56.8  Treatable Intellectual Disability Endeavor (TIDE) Diagnostic Protocol

TIER 1: NONTARGETED METABOLIC SCREENING TO IDENTIFY 54 (60%) TREATABLE IEM
Blood Plasma amino acids, total homocysteine, acylcarnitine profile, copper, ceruloplasmin
Urine Organic acids, purine and pyrimidines, creatine metabolites, oligosaccharides,
glycosaminoglycans, amino acids (when indicated)
TIER 2: CURRENT PRACTICE ADHERING TO INTERNATIONAL GUIDELINES* (ONE OR MORE OF THE FOLLOWING)
Blood Cytogenetic testing (array CGH), thyroid studies, complete blood count, lead, metabolic
testing, fragile X, targeted gene sequencing/molecular panel
Diagnostics Brain MRI and 1H spectroscopy (where available)
Referrals Audiology, ophthalmology
TIER 3: TARGETED WORKUP TO IDENTIFY 35 (40%) TREATABLE IEM REQUIRING SPECIFIC TESTING
According to patient’s symptomatology and clinician’s expertise
Use of digital tools (www.treatable-­id.org)
Blood Plasma cholestanol, 7-­dehydroxycholesterol:cholesterol ratio, pipecolic acid and urine α-­amino
adipic semialdehyde (AASA), very-­long-­chain fatty acids
Plasma vitamin B12 and folate, serum lactate to pyruvate ratio, whole blood manganese
CSF Lactate to pyruvate ratio, amino acids, neurotransmitters, CSF to plasma glucose ratio
Urine Urine deoxypyridinoline
Other Enzyme activities (leukocytes): arylsulfatase A, biotinidase, glucocerebrosidase, fatty aldehyde
dehydrogenase
CoQ measurement: fibroblasts
Molecular analysis: CA5A, NPC1, NPC2, SC4MOL, SLC18A2, SLC19A3, SLC30A10, SLC52A2,
SLC52A3, PDHA1, DLAT, PDHX, SPR, TH genes
*Low threshold for ordering tests.
IEM, Inborn errors of metabolism; CSF, cerebrospinal fluid; CGH, comparative genomic hybridization; CoQ, coenzyme Q (ubiquinone).
Adapted from Van Karnebeek CD, Stockler-­Ipsiroglu S. Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual
Disability Endeavor protocol in British Columbia. Paediatr Child Health. 2014;19(9):469–471.

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356 Part IV u Learning and Developmental Disorders

DIAGNOSTIC PSYCHOLOGIC TESTING

Table 56.9  Conditions Associated with ID
The formal diagnosis of ID requires the administration of individual
tests of intelligence and adaptive functioning. MEDICAL/PHYSICAL DEVELOPMENTAL/
The Bayley Scales of Infant and Toddler Development, Fourth Edition CONDITIONS PSYCHIATRIC CONDITIONS
(BSID-­4), the most used infant intelligence test, provides an assessment
Cerebral palsy/severe motor Attention-­deficit/hyperactivity
of cognitive, language, motor, behavior, social-­emotional, and general impairment disorder
adaptive abilities between 16 days and 42 months of age. The BSID-­4
Seizures Emotional disorders (anxiety,
correlates more strongly with other standardized tests of cognition and Endocrine abnormalities (e.g., mood disorders, posttraumatic
motor development than did prior versions of the test and permits hypothyroidism, short stature) stress disorder)
the differentiation of infants with severe ID from typically developing GI issues (constipation, reflux) Obsessive-­compulsive disorder
infants, but it is less helpful in distinguishing between a typical child Dysphagia Behavioral disorders (self-­
and one with mild ID. Other organ system anomalies injurious behavior, aggression,
The most used intelligence tests for children older than 3 years (e.g., congenital heart disease, adjustment disorder, disruptive
are the Wechsler Scales, although others are also used. The Wechsler malformations) behavior)
Preschool and Primary Scale of Intelligence, Fourth Edition (WPPSI- Hearing loss Autism spectrum disorder
Vision impairment (refractive
­IV) is used for children with mental ages of 2.5-­7.6 years. The Eating and feeding disorders
error, cataracts, strabismus)
Wechsler Intelligence Scale for Children, Fifth Edition (WISC-­V) is Dental caries Psychotic disorders
used for children who function above a 6-­year-­old mental age. Both Lead poisoning from associated Movement disorders (tics,
scales contain numerous subtests in the areas of verbal and perfor- pica stereotypies,)
mance skills. Although children with ID usually score low on all Sleep disorders (OSA, behavioral Developmental coordination
subscales, they occasionally score in the average range in one or sleep dysfunction) disorder
more performance areas. Among children who have marked lan- Obesity Learning disabilities (difficulties not
guage or verbal limitations, tests like the Differential Ability Scales- explained by cognition alone)
­II (DAS-­II) or the Leiter International Performance Scale, Third Substance abuse
Edition (Leiter-­3) may be used to optimally capture nonverbal per- Victimization (bullying, sexual
formance skills. abuse, physical abuse)
Several normative scales are used in practice to evaluate adaptive GI, Gastrointestinal; OSA, obstructive sleep apnea.
functioning, often through questionnaire or interview formats, with
information being attained from caregivers and educators in mul-
tiple different environments when possible (home, school, work).
For example, the Vineland Adaptive Behavior Scale (VABS-­3) uses
semi-­structured interviews with parents and caregivers/teachers medical complications (hypothyroidism, hearing and vision impair-
to assess adaptive behavior in four domains: communication, daily ments, obstructive sleep apnea, congenital heart disease, atlantoax-
living skills, socialization, and motor skills. Other tests of adaptive ial subluxation). Such associated impairments can require ongoing
behavior include the Adaptive Behavior Assessment System (ABAS-­ physical therapy, occupational therapy, speech-­language therapy,
3), the Woodcock-­Johnson Scales of Independent Behavior–Revised, behavioral therapy, adaptive and mobility equipment, glasses, hear-
and the AAIDD Diagnostic Adaptive Behavior Scale (DABS). There ing aids, and medication or other medical management. Failure to
is usually (but not always) a good correlation between scores on the identify and treat these impairments can hinder successful habilita-
intelligence and adaptive scales in ID. However, it is important to tion and result in difficulties in the school, home, and neighbor-
recognize that adaptive behavior can by influenced by environmen- hood environment.
tally based opportunities and by family or cultural expectations. Special attention should be given to screening for accidental injury,
Basic practical adaptive skills (feeding, dressing, hygiene) are more neglect, and abuse. Children with ID have a greater risk of prevent-
responsive to remedial efforts than is the IQ score itself. The trajec- able death from accidental injury. They are more likely to be victims of
tory of adaptive skill acquisition may not be consistent over time frequent, continual abuse at the hands of multiple abusers and are more
because of the underlying condition, response to interventions, and frequently abused by unrelated or unfamiliar perpetrators compared to
environmental expectations. typically developing peers. Up to 15–30% of children with ID are victims
of sexual abuse, with female teens with ID being at highest risk. Abuse may
COMPLICATIONS AND ASSOCIATED CONDITIONS precipitate the onset of maladaptive behaviors and changes in mood. As
Children with ID have higher rates of vision, hearing, neurologic, such, a high index of suspicion must be maintained, with the knowledge
orthopedic, and behavioral or emotional disorders than typically that even individuals with severe ID may be able to reliably disclose vic-
developing children (Table 56.9). These problems are often detected timization and abuse.
later in children with ID. If untreated, the associated impairments
may adversely affect the individual’s outcome more than the ID PREVENTION
itself. Examples of primary programs to prevent ID include the following:
The more severe the ID, the greater the number and severity u Increasing the public’s awareness of the adverse effects of alco-
of associated impairments. Knowing the cause of the ID can help hol and other drugs of abuse on the fetus (the most common
predict which associated impairments are most likely to occur. For preventable cause of ID in the Western world is fetal alcohol ex-
example, fragile X syndrome (see Chapter 59) and fetal alcohol syn- posure).
drome (see Chapter 146) are associated with a high rate of behav- u Encouraging safe sexual practices, preventing teen pregnancy, and
ioral disorders and may be amenable to certain treatments. Children promoting early prenatal care with a focus on preventive programs
with fetal alcohol syndrome may have a less robust response to to limit transmission of diseases that may cause congenital infection
stimulant use, whereas preliminary data suggest that children with (syphilis, toxoplasmosis, cytomegalovirus, HIV).
fragile X syndrome may see behavioral improvements with the use u Preventing traumatic injury by encouraging the use of safety tech-
of metformin. Other genetic conditions may have well-­established nologies (car seats, window locks, helmets, gun locks).
medical comorbidities that should be screened for throughout the u Preventing poisonings by teaching parents about securing medica-
life span. For example, Down syndrome (see Chapter 57) has many tions and potential poisons.

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 Chapter 56 u Developmental Delay and Intellectual Disability 357

u Implementing immunization programs to reduce the risk of ID reuptake inhibitors); and sleep-­ related dysfunction (melatonin,
caused by encephalitis, meningitis, and congenital infection. alpha-­agonists, gabapentin, trazodone). Even if a medication proves
Presymptomatic detection of certain disorders can result in successful, its use should be reevaluated at least yearly to assess the
treatment that prevents adverse consequences. State newborn need for continued treatment of the target behaviors and improve-
screening by tandem mass spectrometry (now detecting >60 rare ments in functional goals. Generally, medications should be started
genetic disorders in most states), newborn hearing screening, and at a low dose and increased slowly, with frequent assessments of
preschool lead poisoning prevention programs are examples. Addi- whether benefits outweigh any adverse effects. Adverse effects and
tionally, screening for comorbid conditions can help to limit the idiosyncratic responses to medications may be more common in this
extent of disability and maximize the level of functioning in cer- population.
tain populations. Annual thyroid, vision, and hearing screening in a
child with Down syndrome is an example of presymptomatic testing PRIMARY CARE, SUPPORTIVE CARE, AND
in a disorder associated with ID. MANAGEMENT
Each child with ID needs a medical home with a primary care cli-
TREATMENT nician who is readily accessible to the family to answer questions,
Although the core symptoms of ID can be prevented in some condi- help coordinate care, and discuss concerns. Healthcare clinicians
tions, they are generally not treatable once ID is diagnosed. Many can have effects on patients and their families that are still felt
associated impairments are amenable to intervention and therefore decades later. The role of primary care includes involvement in
benefit from early identification. Most children with an ID do not prevention efforts, early diagnosis, identification and management
have a behavioral or emotional disorder as an associated impair- of associated deficits, longitudinal developmental surveillance
ment, but challenging behaviors (aggression, self-­injury, opposi- and screening, referral for appropriate diagnostic and therapeu-
tional defiant behavior) and internalizing disorders (mood and tic services, interdisciplinary management, provision of anticipa-
anxiety disorders) occur with greater frequency in this population tory guidance (see Chapter 13), and advocacy for the child and
than among children with typical intelligence. These behavioral and family. The management strategies for children with an ID should
emotional disorders are the primary cause for out-­of-­home place- be multimodal, with efforts directed at all aspects of the child’s
ments, increased family stress, reduced employment prospects, and life: health, education, social and recreational activities, behavior
decreased opportunities for social inclusion. Some behavioral and problems, and associated impairments. Support for parents and
emotional disorders are difficult to diagnose in children with more siblings should also be provided (Table 56.10). A strengths-­based
severe ID because of the child’s limited abilities to understand, com- approach focusing on optimizing participation in all aspects of life
municate, interpret, or generalize. Other disorders are masked by tends to be more beneficial than an exclusive focus on cognitive
the ID. The detection of ADHD (see Chapter 50) in the presence or academic skill attainment. Goals of overall care should include
of moderate to severe ID may be difficult, as may be discerning a maximizing the individual’s independent functioning, identify-
thought disorder (psychosis) in someone with autism and ID. ing effective communication strategies, preserving and enhancing
Behavioral disorders in ID often result from a mismatch between physical fitness and well-­b eing, supporting positive relationship
the child’s abilities and the demands of the situation, organic building, and ensuring opportunities for the individual to partici-
problems, and family difficulties. These behaviors may represent pate fully in the community and find purpose and enjoyment in
attempts by the child to communicate, gain attention, gain access life activities. Goals should be individualized, flexible, appropriate,
to desired tangibles, escape certain demands, exert control, or avoid and attainable.
frustration. Determining the antecedents, functions, and conse- The AAP has published a series of guidelines and/or toolkits for
quences of behavior can help in developing an effective behavior health supervision of children with specific disorders associated with
intervention plan. The most formal iteration of this is a functional ID (Down syndrome, fragile X syndrome, Williams syndrome, fetal
behavioral assessment carried out by a well-­trained behavior ana- alcohol spectrum disorder). Another source for disorder-­specific
lyst. In assessing the challenging behavior, one must also consider information can be found at https://www.medicalhomeportal.org/d
whether it is inappropriate for the child’s mental or developmental iagnoses-­and-­conditions.
age, rather than the chronological age. However, if the behavior is Goals should be considered and programs adjusted as needed
dangerous to the individual or the external world, intervention is during the primary care visit. Decisions should also be made about
required regardless of whether it is “appropriate” for their develop- what additional information is required for future planning or to
mental age. When intervention is needed, an environmental change, explain why the child is not meeting expectations. Other evalua-
such as a more appropriate classroom setting, may improve certain tions, such as formal neuropsychologic or educational testing, can
behavior problems. Behavior management techniques and parent be helpful for diagnostic clarification, attaining more appropriate
training are valuable; psychopharmacologic agents may be appro- school-­based supports, understanding strengths and challenges, or
priate in certain situations, such as aggression or self-­injurious assisting with the process of transition at various time points.
behaviors with high levels of intensity and frequency.
No medication has been found that improves the core symptoms Interdisciplinary Management
of ID. However, several agents are being tested in specific disor- The primary care clinician has the responsibility for consulting with
ders with known biologic mechanisms (e.g., mTOR inhibitors in other disciplines to make the diagnosis of ID and coordinate treat-
tuberous sclerosis and PTEN disorder), with the hope for future ment services. Consultant services may include speech-­language
pharmacologic options that could alter the natural course of cogni- pathology, physical therapy, occupational therapy, psychology, audi-
tive impairment seen in patients with these disorders. Medication ology, nutrition, nursing, and social work, as well as medical special-
is most useful in the treatment of associated behavioral and psychi- ties such as neurodevelopmental disabilities, neurology, genetics,
atric disorders that do not respond to initial behavioral approaches physical medicine and rehabilitation, psychiatry, developmental-­
and environmental manipulation. Additionally, underlying medical behavioral pediatrics, and surgical specialties. Contact with early
disorders and abuse/neglect should be considered as part of the dif- intervention and school personnel is equally important to help pre-
ferential before medication initiation in patients with self-­injury, pare and assess the adequacy of the child’s individual family service
aggression, irritability, or significant disruptive behaviors. plan or individual education plan. The family should be an integral
Medications used among individuals with ID generally target spe- part of the planning and direction of this process. Care should be
cific associated symptom complexes, including inattention, impulsiv- family centered and culturally sensitive; for older children, their
ity, and hyperactivity (stimulant medications and alpha-­agonists); participation in planning and decision-­making should be promoted
self-­
injurious behavior and aggression (antipsychotics); anxiety, to whatever extent possible. Goal setting should be appropriate,
obsessive-­compulsive disorder, and depression (selective serotonin individualized, and achievable

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358 Part IV u Learning and Developmental Disorders

Table 56.10  Resource List for Families by Category

Advocacy Consortium for Citizens with Disabilities http://www.c-­c-­d.org/
The Arc https://thearc.org/
American Association on Intellectual and Developmental https://www.aaidd.org/
Disabilities
Council for Exceptional Children https://exceptionalchildren.org/
The National Disability Rights Network https://www.ndrn.org/
Ollibean https://ollibean.com/
TASH https://tash.org/
National Association for Councils on Developmental Disabilities https://www.nacdd.org/
Assistive Technology Rehabilitation Engineering and Assistive Technology Society of www.resna.org
North America
AT Network www.atnet.org
Association of Assistive Technology Act Programs (ATAP) www.ataporg.org
Guide to Software Accessibility for the Disabled ithare.com/guide-­to-­software-­accessibility-­for-­the-­
disabled/
Behavior and Mental National Association for the Dually Diagnosed (NADD) www.thenadd.org
Health
Behavior Analyst Certification Board www.bacb.com
Challenging behaviors in I/DD informational article https://milnepublishing.geneseo.edu/instructi
on-­in-­functional-­assessment/chapter/chapter-­
1-­challenging-­behaviors-­of-­individuals-­with-­
developmental-­disabilities/
Challenging Behaviors Toolkit https://www.autismspeaks.org/sites/default/files/2018-­
08/Challenging%20Behaviors%20Tool%20Kit.pdf
Early Intervention Zero to Three www.zerotothree.org/
Pathways.org https://pathways.org/
First Signs Campaign http://www.firstsigns.org/
Early intervention overview https://www.parentcenterhub.org/ei-­overview/
CDC Early intervention information https://www.cdc.gov/ncbddd/actearly/parents/states
.html
CDC developmental milestones https://www.cdc.gov/ncbddd/actearly/milestones/ind
ex.html
Special Education Parent Training and Information Centers (PTIs) https://www.parentcenterhub.org/find-­your-­center/
and Inclusion
Iris Center (Inclusion) https://iris.peabody.vanderbilt.edu/
Understood.org https://www.understood.org/pages/en/learning-­
thinking-­differences/
WrightsLaw.com http://www.wrightslaw.com/advoc/ltrs/inclusion_right_
suzanne.htm
Institute for Community Inclusion http://www.communityinclusion.org
Kids Included Together https://www.kit.org/what-­we-­do/inclusion-­resources/
Kidstogether.org http://www.kidstogether.org/
Postsecondary PACER Center www.PACER.org/transition
Education
National Center for College Students with Disabilities https://www.nccsdonline.org/
DREAM: Disability Rights, Education, Activism, and Mentoring https://www.dreamcollegedisability.org/
Guide to Paying for College for People with Disabilities https://lendedu.com/blog/paying-­for-­college-­for-­
people-­with-­disabilities/
Affordable Colleges Online College Resources for Students with https://www.affordablecollegesonline.org/colle
Disabilities ge-­resource-­center/resources-­for-­students-­with-­
disabilities/

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 Chapter 56 u Developmental Delay and Intellectual Disability 359

Table 56.10  Resource List for Families by Category—cont’d

Transition, Vocational The Arc https://thearc.org/
Training,
Employment, Best Buddies International https://www.bestbuddies.org/
and Community Easter Seals https://www.easterseals.com/EasterSeals.com
Participation
Got Transition https://www.gottransition.org/
Project SEARCH https://www.projectsearch.us/Project SEARCH
Recruit Disability job listings https://www.recruitdisability.org/
Rehabilitation Services Administration https://rsa.ed.gov/
Work Incentives Planning and Assistance Project Fact Sheet https://www.ssa.gov/disabilityresearch/wi/generalinfo
.htm
Respectability https://www.respectability.org/resources/Job-­Seekers-­
Disabilities/
Employer assistance and Resource Network on Disability https://askearn.org/
Inclusion
What Can You Do? Resources for Employers https://www.whatcanyoudocampaign.org/where-­to-­
learn-­more/resources-­for-­employers/
Recreation Special Olympics https://www.specialolympics.org/
Summer camp locator https://www.veryspecialcamps.com/
Parent and Family Family Voices https://familyvoices.org/lfpp/f2fs/
Resources
Parents Helping Parents https://www.php.com/
Eparent.com http://www.eparent.com
Community Parent Resource Centers (CPRCs) https://www.parentcenterhub.org/find-­your-­center/
Summer camp options for siblings of children with I/DD https://www.veryspecialcamps.com/summer/siblings-­
camps/
Government Policy information on SSI for children with disabilities https://www.cbpp.org/research/social-­security/ssi-­a-­
Initiatives and lifeline-­for-­children-­with-­disabilities
Services
Supplemental security income and social security disability https://www.ssa.gov/policy/docs/ssb/v77n1/v77n1p1
insurance – beneficiaries with I/DD 7.html
Centers for Medicare and Medicaid Services http://www.cms.gov
Home-­and community-­based waiver programs https://www.medicaid.gov/medicaid/home-­
community-­based-­services/index.html
Achieving a Better Life Experience (ABLE) Accounts – ABLE https://www.ssa.gov/ssi/spotlights/spot-­able.
national resource center htmlhttps://www.ssa.gov/ssi/spotlights/spot-­able.html
https://www.ablenrc.org/
Association of University Centers on Disabilities http://www.aucd.org/directory/directory.cfm
Administration for Community Living https://acl.gov/www.acl.gov/programs/aidd/index.as
px.
Division on Developmental Disabilities (DDD) http://daddcec.org/Home.aspxwww.acl.gov/programs
/aidd/index.aspx.
National Association of States Directors of Developmental http://www.nasddds.orgwww.nasddds.org
Disabilities Services (NASDDDS) http://daddcec.org/Home.aspx
Division on Developmental Disabilities (DDD) Individual state websites
Disorder-­Specific Epilepsy http://www.epilepsyfoundation.org
Groups
Autism www.autismspeaks.org
www.autism-­society.org
Cerebral Palsy https://www.yourcpf.org/
There are other disorder-­specific groups that are too numerous to list here, which include large national networks for
more common syndromes such as Down syndrome (e.g., http://www.ndss.org, https://www.ndsccenter.org/) or fragile X
syndrome (http://www.fragilex.org) and smaller support groups for more rare disorders (many of which can be located
through the unique website at https://rarechromo.org/).
Continued

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360 Part IV u Learning and Developmental Disorders

Table 56.11  Severity of Intellectual Disability and Adult-­Age Functioning

FUNCTIONAL AGE
LEVEL SUPPORT LEVEL EQUIVALENT AS ADULT ADULT ADAPTATION
Mild Intermittent 9-­11 yr Reads at fourth-­to fifth-­grade level; simple multiplication and division; can
write a simple list or letter; completes job application; basic independent
job skills (arrive on time, stay at task, interact with coworkers); uses public
transportation, might qualify for driver’s license; keeps house, cooks
using recipes; challenges with planning and money management; at risk
of being manipulated by others; may need support for making decisions
in healthcare, shopping, finances, and raising a family.
Moderate Limited 6-­8 yr Sight-­word reading; copies information (e.g., address from card to job
application); matches written number to number of items; recognizes time
on clock; communicates; some independence in self-­care;
housekeeping with supervision or cue cards; meal preparation, can
follow picture recipe cards; job skills learned with much repetition;
employment in a supported environment; use of public transportation
with some supervision; successful friendships attained, but social
judgment and life decisions require support.
Severe Extensive 3-­5 yr Little understanding of written language or number, time, and money
concepts; needs extensive supports for problem solving; trainable in
some basic activities of daily living, but needs some level of continuous
support and supervision for most activities; might communicate wants
and needs with use of basic words, phrases, gestures, or with the use of
augmentative and alternative communication techniques; trainable in
some basic activities of daily living.
Profound Pervasive <3 yr Dependent for self-­care, continence, communication needs with supports
required for all activities of everyday living; co-­occurring physical and
sensory limitations are common; may use objects in a goal-­directed fashion
for recreation or self-­care; limited understanding of symbolic communication,
but may understand some gestures and emotional cues; uses nonverbal
expressions; might need complete custodial or nursing care.
Data from World Health Organization. International Statistical Classification of Diseases and Related Health Problems, 10th revision. Geneva: WHO; 2011 and American Psychiatric
Association. Diagnostic and Statistical Manual of Mental Disorders, 5th ed. Washington, DC: American Psychiatric Association.

Periodic Reevaluation developmental level, requirements for support, and goals for inde-
The child’s abilities and the family’s needs change over time. As the pendence provide a basis for early intervention services to establish
child grows, more information must be provided to the child and an individualized family service plan (IFSP), which focuses on
family, goals must be reassessed, and programming needs should be the family’s needs to help them optimize the development of their
adjusted. A periodic review should include information about the child. For children over 36 months of age, the school system devel-
child’s health status and the child’s functioning at home, at school, and ops an individualized education program (IEP), which focuses
in other community settings. Other information, such as psychologic on the child’s educational needs. Inclusive education seeks to sup-
or educational testing, may be helpful. Reevaluation should be under- port the right of every child, regardless of ability, to participate in a
taken at routine intervals (every 6-­12 months during early childhood), broad range of activities and contexts as full members of families,
at any time the child is not meeting expectations, or when the child is communities, and societies with an effort to maximize access, par-
moving from one service delivery system to another. This is especially ticipation, and supports. Research on inclusion reveals benefits for
true during the transition to adulthood, beginning at age 16, as man- individuals with disabilities and for typically developing children.
dated by the IDEA Amendments of 2004, and lasting through age 21, As such, to the maximum extent appropriate, children with dis-
when care should be transitioned to adult-­based systems and providers abilities should be educated with children who do not have disabili-
(see Chapter 152). ties. In general, removal from the regular educational environment
should occur only when the nature or severity of the child’s dis-
ability is such that education in regular classes with the use of sup-
Federal and Education Services plementary aids and services cannot be achieved satisfactorily, not
Education is the single most important discipline involved in the simply because significant curriculum modifications are needed.
treatment of children with an ID. In the United States, the IDEA, Children who are educated in more inclusive settings, regardless
Part B, mandates a free and appropriate public education (FAPE) in of overall developmental level, tend to have higher rates of com-
the least restrictive environment (LRE) for all school-­age children munity participation as adults. Behavioral challenges are the most
(3-­21 years of age). Additionally, Part C mandates early interven- limiting factor in terms of full inclusion, both in school and within
tion services from birth through 36 months of age to be delivered in the community, emphasizing the importance of implementing early
a natural environment (usually home) for all qualifying infants and and consistent behavior management strategies.
toddlers. The developmental and educational program for children Beyond education services, families of children with ID often
with GDD or ID must be relevant to the child’s unique needs and are eligible for federal or state-­provided social services. All states
address the child’s individual strengths and challenges. The child’s offer developmental disabilities programs that provide home and

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 Chapter 56 u Developmental Delay and Intellectual Disability 361

community-­based services to eligible children and adults, poten- pendent living, shared living arrangements, or living with parents;
tially including in-­home supports, care coordination services, resi- community-­integrated living arrangements; group homes)
dential living arrangements, vocational and employment support u Estate planning for the parents (ABLE accounts, special needs trust)
programs, and additional therapeutic options. A variety of Medic- u Postsecondary training (vocational choices, postsecondary educa-
aid waiver programs are also offered for children with disabilities tion – pacer.org)
within each state. Children with ID who live in low-­income-­status u Community participation and involvement in leisure activities (e.g.,
households can qualify to receive supplemental security income community service and volunteering activities, religious groups,
(SSI), but many of these families do not receive the benefits to Special Olympics, Best Buddies, local clubs)
which they are eligible. Successful transition is difficult to achieve because of policies, sys-
tems, and services that are not comprehensive or coordinated. In
Leisure and Recreational Activities moving from child to adult care, families tend to find that services are
The child’s social and recreational needs should be addressed. less readily available, more fragmented, and more difficult to navigate
Although young children with ID are generally included in play across multiple agencies and jurisdictions.
activities with children who have typical development, adolescents Transition planning is a required element of the IEP process by
with ID often do not have opportunities for enriching social inter- age 16 years, and options for continued education or entry into the
actions. Community participation among adults with ID is much workforce after high school should be thoroughly considered, with the
lower than that of the typical population even though these indi- greater goal of ultimate community-­based employment. Postsecond-
viduals tend to have the same preferences and wishes for leisure ary education possibilities might involve community college or voca-
activities as their nondisabled peers. Individuals with ID experience tional training. In 2008, the U.S. Higher Education Opportunity Act
high rates of marginalization, especially from involvement in for- (HEOA) granted students with ID access to federal financial aid to
mal recreational programs, often because of insufficient resources attend colleges with Comprehensive Transition Programs (CTPs),
to accommodate participation, difficulties with expenses and trans- which are designed for postsecondary students with ID to continue
portation, and so forth. To reduce isolation, ideas for inclusion in academic, career and technical, and independent living instruction
leisure activities should be explored with families, including church to prepare for employment. As of 2019, more than 265 nondegree
group involvement, Boy and Girl Scout chapters, 4H clubs, local postsecondary programs for students with ID exist nationwide in the
park district programs, and musical opportunities like choir and United States.
instrumental lessons. Participation in sports should be encouraged Although employment is a critical element of life adaptation for
(even if the child is not competitive) because it offers many ben- persons with ID, only 15% are estimated to have jobs, with significant
efits, including weight management, development of physical coor- gaps in pay and compensation compared to workers without disabil-
dination, maintenance of cardiovascular fitness, and improvement ity. Employment selection should be “customized” to the individual’s
of self-­image. Inclusion in class trips, dances, dating, and other interests and abilities. Options may include participation in com-
social events should be encouraged. International programs such petitive employment, supported employment, high school–to–work
as Special Olympics and Best Buddies International seek to enhance transition programs, job-­coaching programs, and consumer-­directed
inclusion and visibility of individuals with disabilities and can be a voucher programs.
valuable resource.
Self-­Advocacy
Family Counseling The self-­advocacy movement represents an important effort by per-
Many families adapt well to having a child with ID, but some have sons with ID and other disabilities to advocate for maximal autonomy
emotional or social difficulties. The risks of parental depression and and self-­determination in all aspects of life. This movement is a part
child abuse and neglect are higher in this group of children than in the of the greater disabilities rights movement and represents a resistance
general population. The factors associated with good family coping to historical systemic injustices experienced by individuals with ID,
and parenting skills include stability of the marriage, good parental including neglect, abuse, nonautonomy, marginalization, incarcera-
self-­esteem, limited number of siblings, higher socioeconomic sta- tion, sterilization, and isolation. Self-­advocacy stresses that individuals
tus, lower degree of disability or associated impairments (especially with ID should be able to speak for themselves, should be involved
behavioral), parents’ appropriate expectations and acceptance of the maximally in decision-­making, should be treated as equal and fully
diagnosis, supportive extended family members, and availability of included in society, and should be given as much control over their
community programs and respite care services. In families in whom own self-­direction as possible. This movement emphasizes the tenet
the emotional burden of having a child with ID is great, family coun- of “nothing about us without us” and has led to nationwide changes
seling, parent support groups, sibling support groups and camps, in terms of policy and medical and legal nomenclature. Above all, the
respite care, and home health services should be an integral part of self-­advocacy movement has sought to redefine the approach to dis-
the treatment plan. ability, moving toward a social model of acceptance, equality, accom-
modation, and inclusion, putting the onus on society to change its
attitudes and practices rather than calling on the individual with ID
Transition to Adulthood to change.
The transition to adulthood can present a stressful and chaotic time for
the adolescent with ID and their family (see Chapter 152). A successful OUTCOMES
transition correlates with better quality of life but requires significant In children with severe ID or ID requiring significant supports, the
advanced planning. The transition process for those with ID extends prognosis is often evident by early childhood. Mild ID might not
beyond medical care and needs to include education and employment, always be a lifelong disorder. Children might meet criteria for GDD
health and well-­being, finances and independence, and social and at an early age, but later the disability can evolve into a more specific
community life. Specific issues include: developmental disorder (language disorder, autism, ADHD, specific
u Decision-­making (supported decision-­making, guardianship, power learning disability, or borderline intelligence). Others with a diagno-
of attorney) sis of mild ID during their school years may develop sufficient adap-
u Accessing and securing social benefits for which the person is eligi- tive behavior skills that they no longer fit the diagnosis as adolescents
ble (e.g., SSI, Medicaid) or young adults, or the effects of maturation and plasticity may result
u The choice of living arrangements and necessary supports (inde- in children moving from one diagnostic category to another (from

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362 Part IV u Learning and Developmental Disorders

moderate to mild ID). Conversely, some children who have a diagnosis

of a specific learning disability or communication disorder might not Chapter 57
maintain their rate of cognitive growth and may fall into the range of
ID over time.
The apparent higher prevalence of ID in low-­and middle-­income Down Syndrome and
countries is of concern, given the limitations in available resources.
Community-­based rehabilitation (CBR) is an effort promoted by
the World Health Organization (WHO) over the past 4 decades as a
Other Abnormalities of
means of making use of existing community resources for persons
with disabilities in low-­income countries, with the goal of increas- Chromosome Number
ing inclusion and participation within the community. CBR is now
being implemented in >90 countries, although the efficacy of such Mary Pipan
programs has not been established.
The long-­term outcome of persons with ID depends on the underly-
ing cause; degree of cognitive and adaptive deficits; presence of associ- PRINCIPLES OF CARING FOR CHILDREN WITH
ated medical, developmental, and behavioral impairments; capabilities COMPLEX GENETIC DISORDERS
of the families and schools; and availability of community supports, Down syndrome (trisomy 21) is the most common genetic cause
services, and training provided to the child and family (see Table of intellectual disability, with an incidence of 1 in 700 live births
56.10). As adults, many persons with mild ID can gain economic and in the United States. Many of the principles of care for individuals
social independence with functional literacy, but they may need peri- with Down syndrome generalize to other complex genetic disor-
odic support or supervision (especially when under social, economic, ders. Genetic disorders generally affect all cells in the body, and
or health-­related stress). Most live successfully in the community, hence tend to be multisystemic disorders. Trisomy 21’s multisystem
either independently or in supervised settings. Many will marry, some effects require monitoring of all organ systems for potential related
will have children, and meaningful and long-­lasting relationships can issues.
be expected. Chromosome 21 is the smallest human autosome, which likely
For persons with moderate ID, the goals of education are to accounts for the relatively high fetal survival rate in trisomy 21. The
enhance adaptive abilities and “survival” academic and vocational clinical manifestations of other trisomies and aneuploidies are shown
skills, so they are better able to live and function in the adult world in Tables 57.1 and 57.2 and Figs. 57.1, 57.2, and 57.3. Fetuses with other
(Table 56.11). The concept of supported employment has been very
beneficial to these individuals; the person is trained by a coach to
do a specific job in the setting where the person is to work, bypass-
ing the need for a “sheltered workshop” experience and resulting Table 57.1  Chromosomal Trisomies (13, 18) and Their
in successful work adaptation in the community and meaningful Clinical Findings
inclusion. These persons generally live at home with family or in TRISOMY 13 TRISOMY 18
a supervised setting in the community, such as a community inte-
grated living arrangement (CILA) where different levels of super- HEAD AND FACE
vision and support are provided depending on the needs of the Scalp defects (e.g., cutis aplasia) Small and premature appearance
individuals. There has been a strong movement away from institu- Microphthalmia, corneal Tight palpebral fissures
tionalized living, defined as residence in a facility of four or more abnormalities Narrow nose and hypoplastic
people who did not choose to live together. Cleft lip and palate in 60–80% nasal alae
As adults, people with severe to profound ID usually require exten- of cases Narrow bifrontal diameter
sive to pervasive supports (see Table 56.11). These individuals often Microcephaly Prominent occiput
have associated impairments, such as CP, behavioral disorders, epi- Microphthalmia Micrognathia
Sloping forehead Cleft lip or palate
lepsy, or sensory impairments, that further limit their adaptive func- Holoprosencephaly Microcephaly
tioning. They can perform simple tasks in supervised settings. Most (arrhinencephaly)
people with this level of ID can live in the community with appropri- Capillary hemangiomas
ate supports, though some may require a higher level of “institutional Deafness
care” that is best provided though smaller community-­run group CHEST
home settings. Congenital heart disease (e.g., Congenital heart disease (e.g.,
The life expectancy of people with mild ID is similar to the gen- VSD, PDA, ASD) in 80% of VSD, PDA, ASD)
eral population, with a mean age at death in the early 70s. However, cases Short sternum, small nipples
persons with severe and profound ID have a decreased life expec- Thin posterior ribs (missing ribs)
tancy at all ages, presumably from associated serious neurologic or EXTREMITIES
medical disorders, with a mean age at death in the mid-­50s. Given
Overlapping of fingers and toes Limited hip abduction
that persons with ID are living longer and have high rates of comor- (clinodactyly) Clinodactyly and overlapping
bid health conditions in adulthood (e.g., obesity, hypertension, dia- Polydactyly fingers; index over third, fifth
betes), ID is now one of the costliest ICD-­10 diagnoses, with an Hypoplastic nails, hyperconvex over fourth; closed fist
average lifetime cost of 1-­2 million dollars per person. Thus the pri- nails Rocker-­bottom feet
orities for pediatric primary care are to improve healthcare delivery Hypoplastic nails
systems during childhood; facilitate the transition of care to adult GENERAL
providers; and ensure high-­quality, integrated, community-­based Severe developmental delays Severe developmental delays
services for all persons with ID. and prenatal and postnatal and prenatal and postnatal
growth restriction growth restriction
Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography. Renal abnormalities Premature birth, polyhydramnios
1-year survival <10% Inguinal or abdominal hernias
1-year survival <10%
ASD, Atrial septal defect; PDA, patent ductus arteriosus; VSD, ventricular septal defect.
From Behrman RE, Kliegman RM. Nelson Essentials of Pediatrics, 4th ed. Philadelphia:
Saunders;2002: 142.

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 Chapter 57 u Down Syndrome and Other Abnormalities of Chromosome Number 363

Table 57.2  Other Rare Aneuploidies and Partial Autosomal Aneuploidies

DISORDER KARYOTYPE CLINICAL MANIFESTATIONS
Trisomy 8 47,XX/XY,+8 Growth and mental deficiency are variable.
The majority of patients are mosaics.
Deep palmar and plantar furrows are characteristic.
Joint contractures are present.
Trisomy 9 47,XX/XY,+9 The majority of patients are mosaics.
Clinical features include craniofacial (high forehead, microphthalmia, low-­set malformed ears,
bulbous nose) and skeletal (joint contractures) malformations and heart defects (60%).
Trisomy 16 47,XX/XY,+16 The most commonly observed autosomal aneuploidy in spontaneous abortion; the recurrence
risk is negligible.
Tetrasomy 12p 46,XX[12]/46,XX, +i(12p) Known as Pallister-­Killian syndrome
[8] (mosaicism for an Sparse anterior scalp hair (more so temporal region), eyebrows, and eyelashes; prominent
isochromosome 12p) forehead; chubby cheeks; long philtrum with thin upper lip and cupid-­bow configuration;
polydactyly; streaks of hyperpigmentation and hypopigmentation

A B C
Fig. 57.1 Several physical manifestations of trisomy 18. A, Typical profile reveals prominent occiput and low-­set, posteriorly rotated malformed
auricles. B, Clenched hand showing typical pattern of overlapping fingers. C, Rocker-­bottom feet. (Courtesy Kenneth Garver, MD, Pittsburgh, PA.)

Fig. 57.2 Trisomy 13 syndrome. Note sloping forehead with variable defect in facial development. (From Jones KL, Jones MC, Del Campo M.
Smith’s Recognizable Patterns of Human Malformation, 8th ed. Philadelphia: Elsevier; 2022: Fig. 1 A-­C, p. 16.)

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364 Part IV u Learning and Developmental Disorders

A B C D
Fig. 57.3 Trisomy 13. A and B, Note hyperconvex nails and postaxial polydactyly. C, Aplasia cutis congenita over posterior occiput. D, Scrotaliza-
tion of the phallus. (From Jones KL, Jones MC, Del Campo M. Smith’s Recognizable Patterns of Human Malformation, 8th ed. Philadelphia: Elsevier;
2022: Fig. 2, p. 17.)

full autosomal trisomies are not always viable, but partial trisomy and APP
quatrosomy (trisomy or quatrisomy of only part of the chromosome) BACE2
or mosaic trisomy (only part of the cell lines contain the aneuploidy) PICALM
can be viable. APOE CRELD 1
The Down syndrome phenotype can occur as a result of full trisomy
21 (95%), partial trisomy 21 (part of the 21st chromosome in tripli-
cate), mosaic trisomy 21, or translocation. Maternal nondisjunction Alzheimer Heart defect
disease • CHD 50%
in meiosis is the most common cause of trisomy 21. Paternal origin
accounts for less than 10%. • 70% chance • AVSD 40%
of AD • VSD 30%
Chromosome abnormalities affect not only the product and func-
tion of that particular group of genes but can have upstream and down-
stream effects on other gene products in linked pathways. The over 314
triplicate genes in Down syndrome are known to affect the products Down syndrome
and metabolic activity of genes from every other chromosome. Pos- Hsa21 gene
sible phenotype (condition) gene relationships in trisomy 21 are noted
in Figure 57.4.
The link between children’s physical health, development, and Leukemia Gastrointestinal
behavior becomes obvious when caring for children with complex • 10–20 fold problems
genetic disorders. Children with developmental disabilities often • 12% HD
cannot adequately communicate the symptoms of illness. Challeng- Hypertension • 260 times DST
ing behaviors can also interfere with adequate assessment and inter- • 33 times IA
vention. Too often, sources of distress, developmental challenges,
and behavioral issues are attributed to the genetic disorder and GATA 1(AMKL) miRNA hsa-miR-155
dismissed by family, medical, and educational caregivers. Provid- JAK2 (ALL) DSCAM
ing care for genetically complex children requires health and other Fig. 57.4 Various conditions associated with Down syndrome with its
providers to consider a range of potential differential diagnoses causative genes. DST, Duodenal stenosis; IA, imperforate anus; HD,
when presented with a change in behavior, a plateau or regression Hirschsprung disease; CHD, congenital heart disease; AVSD, atrioven-
in development, or a new physical complaint. tricular septal defects; VSD, ventricular septal defect; AD, Alzheimer
Trisomy 21 affects brain development across the life span, leading disease. (From Asim A, Kumar A, Muthuswamy S, et al. Down syn-
to differences in brain anatomy, neurotransmission, and connec- drome: An insight of the disease. J Biomed Sci. 2015;22:41, Fig. 1.)
tivity that affect processing, glial cell function, infrastructure sup-
port, energy metabolism, and in adults, the formation of amyloid
plaques leading to high risk for early Alzheimer disease. Alterations CLINICAL CHARACTERISTICS
in brain development and functioning affect learning, behavior, and Children with Down syndrome are at increased risk for a variety of
emotions, leading to an increased incidence of neurobehavioral and congenital anomalies and comorbid medical conditions. Typically, they
psychiatric disorders such as autism spectrum disorders (ASDs), have a characteristic facial appearance and other physical characteris-
attention-­ deficit/hyperactivity disorder (ADHD), anxiety disor- tics that allow clinical recognition of trisomy 21 in the newborn period
ders, and depression. (Figs. 57.5 and 57.6 and Table 57.3).
It is important for the clinician to understand that children with The increased risk for a variety of medical conditions continues
genetic disorders are genetically more closely related to their bio- throughout the life span (Table 57.4). The American Academy of
logic family than they are to other children with similar disorders. Pediatrics (AAP) has developed Down Syndrome Health Supervi-
Children with Down syndrome will have similar patterns of familial sion Guidelines for clinicians caring for children with trisomy 21
heritability for heritable traits and medical conditions as their bio- (Table 57.5). Individuals with Down syndrome often have signifi-
logic siblings. Individuals with genetic disorders need to be seen as cant communication deficits, which can result in difficulty report-
children/persons first who happen to have a genetic disorder. Using ing pain and discomfort; clinicians need to pay attention to the
person-­ first language (child with Down syndrome, not Downs caregiver’s observation of changes in behavior when evaluating the
child) helps everyone focus on this principle. level of pain or illness. Paying close attention to subtle cues on exam

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 Chapter 57 u Down Syndrome and Other Abnormalities of Chromosome Number 365

A B C

D E F
Fig. 57.5 Down syndrome in the neonatal period. A, Brushfield spots. B, Loose nuchal skin. C, Wide space between toes 1 and 2. D, Poor tone. E
and F, Accentuation of typical face when crying. (From Jones KL, Jones MC, Del Campo M. Smith’s Recognizable Patterns of Human Malformation,
8th ed. Philadelphia: Elsevier; 2022: Fig. 3, p. 7.)

Fig. 57.6 Appearance of two 2-­year-­old children with trisomy 21. The facial appearance of children with trisomy 21 is often characterized by
a low nasal bridge, small nose, small ears, up-­slanting almond-­shaped eyes, and epicanthal folds. (Photos courtesy of Children’s Hospital of
Philadelphia.)

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366 Part IV u Learning and Developmental Disorders

Table 57.3  Clinical Features of Trisomy 21 in the Neonatal Period

CENTRAL NERVOUS SYSTEM MUSCULOSKELETAL
Hypotonia* Joint hyperflexibility*
Developmental delay Short neck, redundant skin*
Poor Moro reflex* Short metacarpals and phalanges
Short fifth digit with clinodactyly*
CRANIOFACIAL
Single transverse palmar creases*
Brachycephaly with flat occiput
Wide gap between first and second toes
Flat face*
Pelvic dysplasia*
Upward slanted palpebral fissures*
Short sternum
Epicanthal folds
Two sternal manubrium ossification centers
Speckled irises (Brushfield spots)
Three fontanels GASTROINTESTINAL
Delayed fontanel closure Duodenal atresia
Frontal sinus and midfacial hypoplasia Annular pancreas
Mild microcephaly Tracheoesophageal fistula
Short, hard palate Hirschsprung disease
Small nose, flat nasal bridge Imperforate anus
Protruding tongue, open mouth Neonatal cholestasis
Small dysplastic ears* CUTANEOUS
CARDIOVASCULAR Cutis marmorata
Endocardial cushion defects
Ventricular septal defect
Atrial septal defect
Patent ductus arteriosus
Aberrant subclavian artery
Pulmonary hypertension
*Hall’s criteria to aid in diagnosis.

Table 57.4  Frequency of Medical Conditions in Trisomy 21

SYSTEM CONDITION ESTIMATED FREQUENCY (IF KNOWN)
EYE
Cataracts (birth/later) 1.4%/5–37 %
Glaucoma 1%
Nystagmus 18–30%
Strabismus 19–34%
Refractive errors 80%
Astigmatism 67–74%
Nasolacrimal duct obstruction 11–30%
ENT
Stenotic ear canals 50%
Choanal atresia
Bifid uvula/mucosal cleft 5%
Laryngomalacia
Middle ear effusions 50–90%
Adeno/tonsillar hypertrophy
Hearing loss 37–78%
DENTAL
Tooth agenesis 54–58%
Malocclusion >70%
Periodontal disease ∼100% under 30 years
ENDOCRINE
Congenital hypothyroidism 1:113 to 1:141 live births
Acquired hypothyroidism 13–34%
Subclinical hypothyroidism 7–40%
Hyperthyroidism 6.5%
Type 1 diabetes mellitus 0.3–1%
CARDIAC
Congenital heart disease 44–54%
AV canal defects 42% (of CHD)
VSD 22–35%
ASD 8–16%
Tetralogy of Fallot 2–4%
Acquired mitral, tricuspid, or aortic regurgitation PDA 5–7%

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 Chapter 57 u Down Syndrome and Other Abnormalities of Chromosome Number 367

Table 57.4  Frequency of Medical Conditions in Trisomy 21—cont’d

SYSTEM CONDITION ESTIMATED FREQUENCY (IF KNOWN)
PULMONARY
Pulmonary hypertension 1–5%
Subglottic stenosis 6%
Tracheo/laryngomalacia 33% (of ENT-­referred population)
Tracheal bronchus
Obstructive sleep apnea ∼50%
GASTROINTESTINAL
Esophageal atresia 0.5–0.9%
Duodenal malformations 4%
Rectoanal malformations 1%
Hirschsprung disease 3%
Celiac disease 5–9.8%
GERD 14–40%
Constipation 30–49%
GENITOURINARY
Renal/urinary tract findings Up to 25%
HEMATOLOGY/ONCOLOGY
Transient myeloproliferative disease (TMD) 5–10%
Acute megakaryoblastic leukemia (AMKL) 10–20% with TMD, first 4 years of life
Acute lymphocytic leukemia 0.1–0.2%
ORTHOPEDICS
Atlantoaxial instability (AAI) 9–27%
Symptomatic AAI 1–2%
Recurrent joint dislocations (shoulder, knee, elbow, thumb) 1–7%
Pes planus 91%
Juvenile idiopathic arthritis ∼1%
DERMATOLOGY
Alopecia/vitiligo 1–11%
Hidradenitis suppurativa 2%
Xerosis/eczema
Seborrheic dermatitis
Psoriasis 0.5–8%
NEUROLOGY
Infantile spasms 2–5%
Seizure disorders 8% (lifetime)
Strokes and moyamoya
Autism spectrum disorder 7–16%
Early onset Alzheimer disease ∼50% >50 yr
Down syndrome disintegrative disorder <1%
ENT, Ear/nose/throat; AV, atrioventricular; CHD, congenital heart disease; VSD, ventricular septal defect; ASD, atrial septal defect; PDA, patent ductus arteriosus; GERD,
gastroesophageal reflux disease.

and asking direct questions about specific areas of pain or discom- and laryngeal cleft all can affect feeding and breathing, including con-
fort can be helpful (e.g., “Does your throat hurt?” while pointing to tributing to sleep apnea. Most children with DS require regular ENT
or touching their throat). follow-­up.
Many children with DS have some degree of hearing loss (HL). Most
Ophthalmology commonly this is conductive HL associated with middle ear effusion.
The red reflex should be evaluated in the newborn period with a Smaller numbers have mixed or sensorineural HL. Hearing is founda-
thorough ophthalmologic exam in the first 6 months of life and then tional for speech development. Hearing should be screened in the new-
annually until age 5, then every 2-­3 years thereafter. Children with born period and with audiologic assessment between 6 and 9 months
DS are at higher risk for cataracts, glaucoma, nystagmus, strabismus, and every 6 months thereafter until an accurate ear-­specific audiologic
astigmatism, refractive error, accommodative error, blepharitis, and evaluation is obtained, then annually. Hearing assessment through
keratoconus. Visual acuity and visual processing are foundational for auditory brainstem responses (requiring sedation) may be needed if
development. audiologic evaluation is inconclusive. Lack of parental concern about
hearing should not preclude obtaining audiologic assessment. Aggres-
Ear, Nose, and Throat sive treatment of otitis media and middle ear effusion reduces the fre-
The pinna and external ear canals are often small with a predisposi- quency of hearing loss.
tion to cerumen impaction. Middle ear effusion occurs in the major-
ity of children, starting in infancy, and may require referral to an ear/ Dental
nose/throat (ENT) specialist for better visualization because of ste- Children with DS often have delayed tooth eruption, malformed
notic ear canals. Chronic nasal congestion, choanal atresia, adeno/ teeth, microdontia, permanent tooth agenesis, tooth impaction,
tonsillar hypertrophy, laryngo/tracheomalacia, subglottic stenosis, malocclusion, and supernumerary teeth. Periodontal disease is

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368 Part IV u Learning and Developmental Disorders

Table 57.5  Summary of Down Syndrome-Specific Care

Action Pre- Birth up to 1 mo up to 1 yr up to 5 yr 5 yr up to 12 yr up to
natal 1 mo 1 yr 12 yr 21 yr
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From Bull MJ, Trotter T, Santoro SL, et al. Health supervision for children and adolescents with Down syndrome. Pediatrics. 2022;149(5):e2022057010.

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 Chapter 57 u Down Syndrome and Other Abnormalities of Chromosome Number 369

seen in the majority of individuals with DS. Starting oral health pre- functioning in children with DS. Obesity increases the risks for
ventive programs young, close supervision and support of dental OSA in many children with DS.
hygiene and chemical adjuvants improve outcomes. Children with
DS should first see a pediatric dentist at age 1 year and follow up Neurology
at least every 6 months. For children who do not tolerate dental Children with DS ages 6-­18 months are at increased risk for infan-
examinations or procedures, sedated examinations may be neces- tile spasms (IS). The outcome is often better with treatment than the
sary, preferably in a hospital with anesthesiologists familiar with non–DS population with ID but is variable, ranging from no obvious
caring for patients with DS. sequelae to ongoing seizure disorders, ASD, and more severe intellec-
tual disability. In addition to the classic signs of IS, change in mental
Endocrine status in an infant or toddler or a plateau or regression in development
Children with DS are at risk for congenital and acquired hypothy- should lead to prompt neurologic evaluation, including an electroen-
roidism (HT) and hyperthyroidism (Graves disease [GD]). Thy- cephalogram (EEG). Children with trisomy 21 are at increased risk for
roid testing should be done at birth as part of newborn screening. other seizure disorders. There is an increased risk for strokes possibly
Acquired HT and GD are autoimmune disorders with elevated related to CHD, vascular malformations (including moyamoya syn-
thyroid antibodies. Thyroid-­stimulating hormone (TSH) testing drome), and other risk factors.
can detect both HT and hyperthyroidism and should be checked
by 6 months, at 1 year, and then annually thereafter. Most cases of Gastrointestinal
thyroid disorders are asymptomatic and would be missed without Most children with DS have structural or functional gastrointesti-
screening. Compensated HT refers to mild elevations in TSH with nal (GI) comorbidities, many of which can affect individuals across
normal T4, requiring continued monitoring. Low TSH can indi- the life span. There is evidence of abnormalities in enteric nerves
cate Graves disease. Children with DS who have GD can develop affecting microanatomy and nerve function. Congenital anomalies
HT, and those with HT can develop GD. Thyroid disorder should include esophageal atresia, TE fistula and duodenal atresia, steno-
be considered as part of the differential diagnoses with mood or sis, and webs, Hirschsprung disease, and anorectal malformations.
behavior changes, slowing of growth, exophthalmos, high blood Constipation and gastroesophageal reflux disease (GERD) are fre-
pressure, or tachycardia. quent causes of irritability, GI discomfort, feeding issues, toileting
Type 1 diabetes mellitus (DM) is more common in children with DS. refusal, and incontinence. There appears to be a strong association
Screening for type 2 DM, especially in obese individuals, should follow between GERD, pneumonia, and OSA. Children with DS are also at
similar guidelines to the typically developing (TD) population. higher risk of celiac disease, which can cause GI, nutritional, and
behavioral issues. The AAP guidelines do not recommend routine
Cardiac celiac screening, but rather to maintain a high index of suspicion
Congenital heart disease (CHD) affects about half of all children with GI complaints, growth faltering, or behavioral concerns. Many
with DS, including atrioventricular (AV) canal defects, atrial septal others, however, have performed routine screening because many
defect (ASD), ventricular septal defect (VSD), tetralogy of Fallot patients with DS who have celiac disease are asymptomatic; there
(TOF), patent ductus arteriosus (PDA), and patent foramen ovale may be a lag of 2-­3 years before symptoms appear.
(PFO). All children with DS should have an infant echocardiogram
even with a normal physical examination. Cardiology follow-­up Nutrition/Obesity
will be based on echocardiogram findings. Signs of heart failure In infancy and early childhood, dysphagia, GI conditions, cardiac,
such as failure to thrive, tachypnea, easy fatigue, or sweating with and respiratory complications may cause failure to thrive. Weight
feeds require expedited referral back to cardiology. Pulmonary faltering can continue for older children because of the same issues
hypertension can also occur in children with DS related to congeni- but may be more intermittent. Because of the high rates of dyspha-
tal heart defects or to respiratory illness. Later in adolescence and gia in infants with DS, video swallow studies should be considered
adulthood, clinicians should be aware of the increased risk for val- when there is any sign of weight faltering, aspiration, feeding dif-
vular heart disease and endocarditis. ficulties, or recurrent respiratory infections. Thickened formulas,
low-­f low bottles/nipples, or slower paced feeding may be required.
Pulmonary Nasogastric (NG) or gastric tube (GT) supplementation to assure
Respiratory infections are the most common cause for hospital adequate nutrition may be needed. Many babies with DS can suc-
admission of children with DS without CHD and are a common cessfully breastfeed, and clinicians need to be encouraging but
cause of mortality in children with CHD. Respiratory compromise watchful for growth faltering.
may present with subtle signs of respiratory distress such as tachy- Obesity becomes more prominent in early childhood and extend-
pnea, intercostal retraction, shortness of breath, and easy fatigue ing into adulthood. In school-age children with DS, those at 50% or
with exertion. The lack of overt distress may lead clinicians to greater on DS-specific BMI charts are in the obese range. Thus to
underestimate the level of respiratory compromise. Both anatomy gauge the level of overweight for children with DS, the Centers for
and immunodeficiency associated with DS can lead to increased Disease Control and Prevention (CDC) curves for BMI should be
risk for upper and lower respiratory infections. Macro and micro used. When children with DS gain more autonomy in feeding, over-
pulmonary structural anomalies have been reported. Gastroesopha- eating can become a problem. Many do not appear to satiate and will
geal reflux disease, swallowing dysfunction, and upper airway dif- continue to eat as long as food is presented or will seek food. Caregiv-
ferences (including transesophageal [TE] fistula) increase the risk ers therefore cannot rely on the child’s satiety to determine caloric
of aspiration. sufficiency. Decreased basal metabolic rates (reduced caloric needs)
and lower physical activity can also contribute to obesity. Anticipa-
Sleep tory guidance regarding healthy nutritional practices, meal and snack
The estimated prevalence of obstructive sleep apnea (OSA) ranges limits, and active lifestyle choices should be part of well-­child visits
from 31% to 79%, and onset occurs from infancy through adult- from a young age.
hood. A sleep study before the age of 4 years is recommended.
Clinicians should consider ordering a sleep study at any age, with Genitourinary
chronic signs of respiratory compromise when awake or asleep or Renal and urinary tract abnormalities, including ureteropel-
daytime symptoms of nonrestorative sleep. There is some evidence vic junction obstruction, vesicoureteral reflux, renal hypoplasia,
that OSA causes difficulties in cognitive, behavioral, and adaptive obstructive uropathy and posterior urethral valves, hypospadias,

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370 Part IV u Learning and Developmental Disorders

Table 57.6  Neurodevelopmental, Neurobehavioral, and Psychiatric Characteristics of Trisomy 21

MOTOR SKILLS
Gross motor skills 0-­24 mo: Mild delays initially which widen with age
At 2 years 25% walking
Oromotor Dysphagia 0-­6 mo: 50%
Self-­feeding delays: 70%
Fine motor skill Early skills delays: ∼75%
Bimanual skill delays: 100%
SPEECH AND LANGUAGE
Intelligibility Frequently unintelligible (parent report): 5-­21 yr: 54–57%
Motor speech impairment:
Delay: 27%
Articulation: 60%
Apraxia: 33%
Dysfluency:
Stuttering: 10–45%
Cluttering (abnormally rapid or irregular pace or both): 80%
Language Receptive: Similar to mental age–matched controls
Expressive: More delayed relative to mental age–matched controls
Syntax: More impaired than expressive vocabulary
Pragmatics: Same variety of language functions as mental age–matched peers; may be less
likely to ask for clarification
SOCIAL AND EMOTIONAL DEVELOPMENT
High sociability
Joint attention compared with mental age–matched peers
Strong imitation skills
Pro-­social empathetic responses to others in distress
Underexpression of emotional distress
Less frequent and shorter social referencing
Reduced ability to read facial expressions
More restricted repetitive behaviors and interests
Average social motivation but lower social cognition
COGNITION
Intellectual disability:
Mild: ∼25%
Moderate: ∼50%
Severe: ∼25%
Decline in IQ throughout childhood (slowing in developmental progress relative to same-­age peers)
Strengths: Implicit memory, visual spatial sequencing, visual spatial construction, and nonverbal memory
Weaknesses: Working memory capacity, explicit memory, verbal processing, auditory short-­term
memory, complex visual spatial skills, executive functioning
Oppositional behaviors 70%
Aggression 4–15%
Self-­injurious behavior 18%
Autism spectrum disorders 15–20%
ADHD 14–40%
Anxiety disorders 10–22%
Obsessive-­compulsive disorders 0.5–4.5%
Depression 5–11%
Catatonia/Down syndrome disintegrative Multiple case series and case reports
disorder
IQ, Intelligence quotient; ADHD, attention-­deficit/hyperactivity disorder.

asymptomatic renal pelvic dilatation, kidney ectopia, proteinuria with DS are fertile, having a 33% chance of having a child with DS.
and hematuria, immunoglobulin A (IgA) nephropathy, and focal Menstrual problems, including irregular periods, and premenstrual
segmental glomerulosclerosis, occur more frequently than in the irritability are common reasons for use of oral contraceptives. Most
general population. There are no current guidelines for regular sur- females manage menstrual periods well, but there may be difficulties
veillance, but clinicians need to maintain a high index of suspicion. with hygiene. Menopause tends to occur early.
Individuals with DS are at increased risk for sexual abuse, and care-
Sexuality and Reproductive Health givers should discuss appropriate and inappropriate contact and rela-
Males and females with DS undergo puberty at similar ages to peers. In tionships from an early age. Sexuality education should be included in
males, after puberty, testicular volume decreases and gonadal dysfunc- their educational curriculum. Clinicians should discuss sexuality, birth
tion worsens with age. Males are infertile, with few exceptions. Females control, and reproductive issues at health maintenance visits.

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 Chapter 57 u Down Syndrome and Other Abnormalities of Chromosome Number 371

Hematology-­Oncology Dermatology
AAP guidelines recommend a complete blood cell count (CBC) Although causing minor morbidity, dermatologic problems can be
with differential for all newborns with DS. Neonates with DS com- highly distressing to patients and families due to appearance (e.g., alo-
monly have hematologic abnormalities, including peripheral blasts, pecia), discomfort (e.g., eczema, hidradenitis), or intractability (e.g.,
neutrophilia, thrombocytopenia, or polycythemia. Five to ten per- onychomycosis). Common conditions include folliculitis, hidradenitis
cent of neonates with DS have transient myeloproliferative disor- suppurativa, eczematous and seborrheic dermatitis, autoimmune alo-
der (TMD) (also called transient abnormal myelopoiesis [TAM]), pecia and vitiligo, fungal infections including tinea pedis and onycho-
which is associated with pathologic variants in GATA1. Typically, mycosis, angular cheilitis, and hyperkeratosis.
this resolves spontaneously within the first 1-­3 months of life, but
10–20% will develop acute megakaryocytic leukemia (AMKL) in DEVELOPMENTAL AND BEHAVIORAL
the first 4 years of life. AMKL is sensitive to treatment in most cases CHARACTERISTICS
and has a good prognosis. Development and behavior concerns are almost universal. Some
Children with DS are ∼20 times more likely to get acute lymphoblas- concerns are easily explained and remediated and are responsive to
tic leukemia (ALL) (1 in 900-­1,000) than the typical population, which appropriate therapeutic or behavioral interventions, but others may
is associated with pathologic variants in JAK2. Treatment trials show indicate an underlying neurobehavioral disorder such as autism,
lower response rates, higher recurrence rate, and higher treatment-­ ADHD, depression, or anxiety (Table 57.6). Thinking through the cat-
related mortality. egories that follow will help clinicians understand this complexity and
Annual hemoglobin screening for anemia is recommended through- direct families to appropriate resources.
out childhood with additional testing for ferritin and C-­reactive protein
(CRP) when iron deficiency is suspected. The incidence of anemia in Motor Skills
DS may be similar or increased compared with the general population. Children with DS often have marked delays in motor skills in early
Other common CBC findings include macrocytosis, low white blood development related to hypotonia, ligamentous laxity, and lack of
cell (WBC) count, and polycythemia, the clinical significance of which coordination.
is unknown. Acquisition of early gross motor skills is foundational for pos-
tural control, feeding, visual motor development, socialization, and
Immunology/Allergy communication. Without stimulation and support, infants with DS
Individuals with DS are more susceptible to infections because of mild may persist in lax postural control, further adding to motor delays.
to moderate T-­and B-­cell lymphopenia, with a decrease in naive lym- Through toddler and childhood many gradually improve but have
phocytes, impaired mitogen-­induced T-­cell proliferation, reduced spe- persistent deficits in motor control and coordination and more dif-
cific antibody responses to immunizations, and defects of neutrophil ficulty with speed and complex postural changes, as well as persis-
chemotaxis. Nonimmunologic anatomic factors also contribute to the tent hypotonia. Physical therapy in the first years of life concentrates
increased risk of respiratory infections. Children with DS with signifi- on core strengthening and ensuring acquisition of adaptive motor
cant numbers of serious infections or difficulty clearing infections need planning that supports effective ambulation. Gait abnormalities and
further immunologic evaluation. persistent low core strength often require ongoing physical therapy.
Autoimmune disorders are also more common, including thyroid Developing physical literacy in recreational fitness activities, such as
disorders, celiac disease, alopecia areata, vitiligo, type 1 DM, juvenile swimming, and community sports can also support health and well-­
idiopathic arthritis, and systemic lupus erythematosus. being in school-­age and adult years.
Oromotor skills are often delayed, with dysphagia in half of infants,
Musculoskeletal requiring feeding therapy, thickening of formula, low-­flow nipples,
Individuals with DS have short stature across the life span and pacing between swallows, and sometimes supplemental enteral feed-
stop growing sooner than typical peers, the mechanism of which is ing. Feeding therapy helps young children learn to handle food
unclear. Growth hormone is rarely deficient. Ligamentous laxity is boluses, chew, and drink from a cup.
common, especially in the ankles and feet. Inflammatory arthritis Fine motor skills are also delayed, although they seem to be acquired
is underrecognized, and scoliosis is more common. Joint instabil- in the same sequence as typically developing peers, but with a wider
ity is most apparent in the neck (atlantoaxial instability [AAI]), age range of acquisition. Most unaffected children are able to write
hips, and knees. Joint pain and impaired mobility can contribute to their name between 60 and 72 months, but in children with DS, this
motor skills deficits, impede independence, and add to behavioral usually occurs between 120 and 216 months. Occupational therapy
difficulties. often helps remediate or compensate for motor difficulties interfering
Radiographic screening for AAI is not recommended because flex- with independence in activities of daily living.
ion/extension neck x-­rays are not predictive for future neurologic
risk. Signs and symptoms of AAI occur because of compression of the Speech and Language Skills
spinal cord from slippage of the C1 or C2 vertebrae, which can occur Individuals with DS often have difficulty speaking clearly enough to
after an injury or anesthesia but can also be seen spontaneously. Neck be readily comprehensible to listeners across the life span resulting
pain, stiffness, and/or myelopathic signs and symptoms (e.g., change in communication breakdowns, which can be frustrating to both
in gait, bowel, or bladder pattern or weakness) should prompt refer- parties. Typical children are 90–100% intelligible by age 4 years.
ral to orthopedics or neurosurgery. Universal neck precautions are In individuals with DS over 50% of parents reported frequent dif-
recommended for all children with DS, assuming that all are at risk ficulties in intelligibility over the age of 5 years into adulthood, and
for injury from AAI, including limited participation in any activities almost all qualify for a diagnosis of a motor speech disorder. Differ-
that would be associated with forcible neck movement such as contact ences in voice quality, articulation, phonology, fluency, prosody, and
sports, diving, and universal cervical precautions with intubation pro- motor coordination (apraxia) all contribute to making speech hard to
cedures/surgery. Children with DS should be secured in rear-­facing car understand (see Chapter 53). The complexity of speech impairments
seats until 40 pounds and may need harness-­style car restraints over in children with DS requires speech therapy evaluation with targeted
40 pounds. interventions for each individual.
Hip instability resulting in recurrent (often painless and voluntary) Children with DS relative to children matched for nonverbal
hip dislocation and patellar instability can impair ambulation and may skills show similar abilities in receptive vocabulary but impairments
require surgical interventions. in expressive vocabulary, syntax, grammar, and verbal short-­term

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372 Part IV u Learning and Developmental Disorders

memory indicative of a specific language impairment (SLI). The peers, and deficits are more marked in higher-­level thinking. Thus
frequency of such impairments requires comprehensive language the gap between children with DS and same-­age peers widens with
assessment for all children with DS. The language impairment may age. An actual plateau in functioning before mid-­adolescence or a
be associated with decreased ability to express thoughts and feelings decline at any age is not typical and should prompt thorough etiologic
verbally and use of fewer words in answer to questions or to carry on evaluation.
a conversation. IQ scores are of limited value for intervention planning, as they
Misunderstandings may occur if the individual refers to past provide limited information about relative strengths and weak-
events in the present tense or thinks that something described as a nesses. Children with DS often have relative strengths in areas of
future event will happen immediately. Verbal short-­term memory imitation, implicit memory, visual spatial sequencing, visual spatial
deficits affect comprehension of more complex language (e.g., mul- construction, and nonverbal memory. Relative weaknesses tend to
tistep instructions, complex sentences, conversation, and narrative) occur in working memory capacity, explicit memory, verbal pro-
and reading comprehension. Visual, contextual, and multisensory cessing, auditory short-­term memory, more complex visual spatial
supports incorporated into both receptive and expressive language skills (mental rotation, closure, wayfinding), and executive func-
can be helpful. tioning (see Chapter 49). Recognizing a child’s individual learning
Speech and language intervention has been shown to be effective, profile and building on strengths while supporting weaknesses will
especially when of higher intensity; focused on individual needs and help caregivers, teachers, and therapists work together to teach chil-
targeted skills; and when taking into account the individual’s age, dren effectively to their potential.
interests, and motivators. Use of applied behavior analysis to teach Children’s reading skills are generally commensurate with their
communication skills improves outcomes. Incorporating interventions nonverbal mental age. Many children with DS can learn to read,
across contexts (classroom, home, and community settings) and into some phonologically, some orthographically. Reading comprehen-
pragmatic language situations outside of structured learning settings sion largely relies on language comprehension skills and is often
(e.g., peer interaction, conversation) supports generalization of skills more difficult.
learned in therapy. For some individuals with DS, speech and lan- Mathematics is much more difficult because of weak working mem-
guage intervention will be required through school and possibly into ory, language deficits, and fine motor skills. Math interventions gener-
adulthood. ally include direct instruction, modeling, guided and repeated practice,
and use of concrete materials.
Social and Emotional Development
Social and emotional development occurs as a complex transactional
process between the child and their social partners. Children with Neurobehavioral Challenges and Disorders
developmental delays will likely also have delays in their social inter- Autism Spectrum Disorder
actions, social communication, and play. Children with DS often have Due to the sociability associated with children with DS, ASDs have
a strong orientation toward sociability. From early infancy, mutual been underrecognized in the past but are estimated to occur in 15–20%
gaze in babies with DS emerges more slowly but once established of children with DS. Studies also have shown that autism symptoms
tends to last longer, with sometimes strong preferences for looking are not attributable to the degree of developmental disability and that
at people as opposed to toys and other objects. Development of joint individuals with DS and ASD are distinct from those with DS alone.
attention is commensurate with developmental age-­matched peers Children with DS who show high levels of repetitive behavior, maladap-
and may be a relative strength. Strong imitation skills are noted in tive behaviors (e.g., aggression, self-­injury, destructive behaviors), social
children with DS. Children with DS show stronger pro-­social empa- isolation, or difficulty with reciprocal social interaction should be referred
thetic responses to others’ distress, but their own expression of dis- for further evaluation, even when overtly sociable. Children with ASD
tress tends to be dampened (often described as high pain tolerance require specialized behavioral and educational interventions with an
or, in older children, a perceived reluctance to acknowledge feelings emphasis on functional communication, social and play skills develop-
of distress). ment, and sensory-­based supports (see Chapter 58).
There are relative weaknesses in social development, which can help
explain some of the social difficulties caregivers encounter. Children ADHD
with DS have been shown to socially reference less frequently, with The reported incidence of ADHD in children with DS varies greatly,
shorter glances toward others, and some have more difficulty inter- from 14% to 44%. Inattention, impulsivity, and hyperactivity, the
preting the facial expressions of others. Older children with DS have core symptoms of ADHD, are nonspecific, and it can be difficult
more restricted repetitive behaviors and interests, including rigidity to differentiate all the factors contributing to these symptoms in
and insistence on sameness. Despite typical social motivation, they children with DS (see Chapter 50). From a clinical perspective, the
may have difficulties with social cognition and difficulty gaining and diagnosis of ADHD relies on reports of ADHD symptoms from
maintaining friendships. Having friends has been associated with two different settings (usually parent and teacher) and dysfunction
improved quality of life in children with DS. Most adolescents are caused by the ADHD symptoms in areas such as learning, social-
happy with their level of friendships, but friends may include helpers ization, and safety. Medication use in ADHD has been shown to
and adult companions. Leisure time is often spent at home with family be effective in children with DS, but the response rates are lower
or by themselves, and socializing with same-­age peer-­friends occurs than in typical peers with ADHD. Further, there are higher rates
predominantly in the context of common educational or community of significant side effects, with some children showing decline in
activities. Building healthy sustained friendships with both TD peers behavior and cognitive performance on medication.
and those with developmental disabilities often requires active ongo-
ing caregiver and community support to prevent social isolation and Aggression and Self-­Injurious Behaviors
loneliness as children transition to adulthood. Aggressive behavior is more common in children with many genetic
disorders, including DS. The estimated incidence in DS is 4–15%,
Cognition which is higher than the general population but less than many other
Individuals with DS have varied degrees of intellectual and learn- genetic syndromes. Aggression disproportionately affects quality of life
ing disabilities. Intelligence quotient (IQ) scores of adults with DS for the individual and family members and may result in the use of
are mostly in the 40s-­60s, and tests of adaptive functioning typically medications and more restrictive educational placements. These behav-
have standard scores in the low 50s. In children with DS, IQ scores iors occur more often in males and in individuals with ASD, ADHD,
tend to decline with age because progress is slower than same-­age or poor communication skills. Self-­injurious behavior (SIB) occurs in

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 Chapter 58 u Autism Spectrum Disorder 373

∼18%. Individuals with DS who engage in SIB are likely to have lower increases in outbursts or aggression, sleep disturbance, psychomo-
cognitive and communication ability (may be nonverbal), more repeti- tor retardation, low self-­esteem, catatonia, and psychosis. Clinicians
tive behaviors, higher levels of activity and impulsivity, and fewer social need to consider potential contributing factors, including medical
interactions. Assessment of aggression or SIB should include a func- factors, recent life stressors, trauma, and family history. Anecdot-
tional behavioral analysis (FBA) along with overall skills assessment ally, interventions that involve reengagement in previously enjoyed
with emphasis on communication. New onset or escalation of aggres- activities and treatment with selective serotonin reuptake inhibitors
sion or SIB should also include careful assessment for potential sources (SSRIs) can be effective.
of pain or discomfort that may exacerbate these behaviors. Behavioral
interventions designed based on the results of the FBA should be the Catatonia (Also Known as Down Syndrome
initial intervention. Medications may be needed to address symptoms Disintegrative Disorder or Down Syndrome
of ADHD, irritability, mood, or anxiety. Regression Disorder)
Older children and young adults can experience a sudden regression
Oppositional Behaviors in communication, socialization, and daily living skills associated with
Disobedience and stubbornness are common. In some cases, this psychomotor retardation, negative mood or mood lability, refusal to
behavior may relate, at least in part, to differences in cognitive participate in activities, social withdrawal, and insomnia with signs
processing. Children with DS have difficulty shifting attention or and symptoms of catatonia on the Bush Frances Catatonia Scale (see
disengaging from activities. They often desire sameness and resist Chapter 47.3). Patients should undergo a medical evaluation for
changes to routine or to the way they think things should be done. mental status change. Contributing etiologic factors include stressful
Difficulties with language comprehension or frustration with a task events, depression, anxiety, or high physiologic stress. Treatment con-
or trying to express oneself may result in behaviors that are seen sists of addressing the underlying suspected cause and may include a
as oppositional. When combined with difficulty problem solving, trial of Ativan and then electroconvulsive therapy (ECT) if Ativan is
low frustration tolerance, and emotional dysregulation, disruptive unsuccessful.
or sometimes verbally or physically aggressive behaviors may result.
Before diagnosing a child as having oppositional defiant disorder Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography.
(see Chapter 42), clinicians should try to understand potential com-
prehension or skill deficits that may be contributing to the behav-
ior. If the child has difficulty with transitions, interventions to help
them shift activities more easily such as transition routines, warn-
ings, or countdowns may be most helpful. Visual schedules can also
be helpful to prepare the child for what is next, as can providing
some additional time for the transition. Simplifying language can
help avert communication frustration.
Chapter 58
Anxiety
There is an increased prevalence of anxiety disorder in children
with DS compared with typical peers. Generally, anxiety disorders Autism Spectrum Disorder
are diagnosed based on verbal descriptions of fear or worry and the
impact of the fear or worrying on functioning or individual dis- Carolyn F. Bridgemohan and
tress. Whereas some individuals with DS have the language skills Carol C. Weitzman
to describe these experiences, others do not. Clinicians often need
to rely on the history from caregivers and contextual cues. Behav-
ioral reactions to anxiety can result in flight-­or-­fight responses.
Thus anxiety could manifest with aggressive or escape/avoidance
behaviors. Cognitive-­ behavioral therapy or exposure therapies DEFINITION
can be helpful, and medication management is sometimes needed Autism spectrum disorder (ASD) is a neurobiologic disorder with
when anxiety is overwhelming or affects sleep or daytime function- onset in early childhood. The key features are impairment in social
ing. Evidence for effectiveness of intervention in DS specifically is communication and social interaction and restricted and repetitive
sparse. behaviors. The presentation of ASD can vary significantly from one
individual to another, as well as over the course of development for a
Obsessive-­Compulsive or Perseverative Behaviors particular child. There is currently no diagnostic biomarker for ASD.
Children and adults with DS often need specific things to be a certain Accurate diagnosis therefore requires careful review of the history and
way or may have repetitive patterns of behavior that can seem obses- direct observation of the child’s behavior.
sive or compulsive. They may spend many minutes arranging pillows
on their bed, need all doors in the house to be shut, make long lists, DIAGNOSTIC CRITERIA AND SYMPTOMS
or perseveratively ask about upcoming events. These behaviors can be The diagnostic criteria in the Diagnostic and Statistical Manual, Fifth
associated with anxiety, and the possibility of increased anxiety should Edition (DSM-­5) focus on symptoms in two primary domains: (1)
be investigated if there are sudden increases in intensity or frequency social communication and social interaction and (2) restricted inter-
of these behaviors. ests and repetitive behaviors (Table 58.1). To meet criteria for ASD,
the symptoms need to have been present since the early developmen-
Depression tal period, significantly affect functioning, and not be better explained
The prevalence of depression in DS ranges from 4% to 11%, with by the diagnosis of intellectual disability (ID) or global developmental
most studies being done in adults. This may be an underestimation, delay (GDD; Chapter 56). Table 58.2 provides associated features not
as depression in individuals with intellectual disability can be dif- included in the DSM-­5 criteria.
ficult to diagnose because of limited abilities to self-­report internal Symptoms can present in infancy, with reduced response to name
mood states. Behavioral symptoms can include anxiety, increases and unusual use of objects being strong predictors for risk of ASD.
in obsessive-­compulsive behaviors, depressed affect, crying for no However, symptoms before age 12 months are not as reliably predic-
reason, lack of emotion, social isolation, anhedonia, irritability with tive of later diagnosis. Individuals with milder severity may not present

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374 Part IV u Learning and Developmental Disorders

addition, the child may avoid attempts by others to play and may not
Table 58.1  DSM-­5 Diagnostic Criteria for Autism Spectrum
participate in activities that require taking turns, such as peek-­a-­boo
Disorder
and ball play. An older child with ASD may have an interest in peers
A. Persistent deficits in social communication and social interaction but may not know how to initiate or join in play. The child may have
across multiple contexts, as manifested by the following, currently trouble understanding the rules of conversation and may either talk at
or by history: length about an area of interest or abruptly exit the interaction. Younger
1. Deficits in social-­emotional reciprocity. children often have limited capacity for imaginative or pretend play.
2. Deficits in nonverbal communicative behaviors used for social Older children may engage in play and conversation but lack flexibility
interaction. and may be highly directive to peers. Some children with ASD interact
3. Deficits in developing, maintaining, and understanding well with adults but struggle to interact with same-­age peers.
relationships.
B. Restricted, repetitive patterns of behavior, interests, or activities, as Nonverbal Communicative Behavior
manifested by at least two of the following, currently or by history: Difficulties with nonverbal communication may manifest as reduced or
1. Stereotyped or repetitive motor movements, use of objects, or overly intense use of eye contact and gestures such as pointing. Children
speech. may also show reduced awareness or response to the eye gaze or pointing
2. Insistence on sameness, inflexible adherence to routines, or of others. They may use eye contact only when communicating a highly
ritualized patterns of verbal or nonverbal behavior.
preferred request or may have difficulty coordinating the use of nonver-
3. Highly restricted, fixated interests that are abnormal in
bal with verbal communication. Children with ASD may have limited
intensity or focus.
range of facial social-­communicative expression or expressed emotion.
4. Hyperreactivity or hyporeactivity to sensory input or unusual
interest in sensory aspects of the environment.
C. Symptoms must be present in the early developmental period (may Developing, Maintaining, and Understanding
not become fully manifest until social demands exceed limited Relationships
capacities, or may be masked by learned strategies in later life). Children with ASD have limited insight regarding social relationships.
D. Symptoms cause clinically significant impairment in social, They may have difficulty understanding the difference between a true
occupational, or other important areas of current functioning. friend and a casual acquaintance, and even when the definitions are
E. These disturbances are not better explained by intellectual well understood, there may still be difficulty in developing and main-
disability (intellectual developmental disorder) or global taining more intimate relationships They have trouble picking up on
developmental delay. the nuances of social interactions and understanding social expecta-
From the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition.
tions for polite behavior. They may have reduced understanding of per-
(Copyright 2013). American Psychiatric Association, pp. 50–51. sonal boundaries and may stand too close to others. In addition, they
can have trouble understanding and inferring others’ emotions and are
less likely to share emotion or enjoyment with others. Adolescents and
young adults have difficulty engaging in group interactions and navi-
gating romantic relationships.
Table 58.2  Associated Features of Autism Not in DSM-­5
Criteria Restrictive and Repetitive Behavior
A diagnosis of ASD requires the presence of two of the four symptoms
Atypical language development and abilities of restrictive and repetitive patterns of behavior discussed next.
Age <6 yr: frequently disordered and delayed in comprehension;
two thirds have difficulty with expressive phonology and grammar Stereotyped Motor Movements or Speech
Age ≥6 yr: disordered pragmatics, semantics, and morphology, Stereotyped (or stereotypic) movements and repetitive behaviors
with relatively intact articulation and syntax (i.e., early difficulties may include hand flapping, finger movements, body rocking and
are resolved) lunging, jumping, running and spinning, and repetitive speech such
Motor abnormalities: motor delay; hypotonia; catatonia; deficits in as echoing words immediately after they are said. Repetitive pat-
coordination, movement preparation and planning, praxis, gait, terns of play may be present, such as lining up objects, repetitively
and balance turning light switches on and off or opening and closing doors,
For version with full references, see American Psychiatric Association. Diagnostic and spinning objects, or arranging toys in a specific manner. These
Statistical Manual of Mental Disorders, Fifth Edition. Washington DC: American repetitive patterns may not be seen in very young toddlers but may
Psychiatric Association; 2013. Adapted from Lai MC, Lombardo MV, Baron-­Cohen S. develop as they get older. Stereotyped movements can change over
Autism. Lancet. 2014;383:896–910.
time and in older children are seen more often in individuals with
lower cognitive functioning.

until preschool or school age, when the social demands for peer inter- Insistence on Sameness
action and group participation are higher. Children with ASD have difficulty tolerating transitions or change.
They may insist on certain routines or schedules and can become
Social Communication and Social Interaction very distressed with unexpected events or new situations. They may
Individuals with ASD have difficulty understanding and engaging in repeat scripts from shows or movies or watch the same portion of
social relationships. The problems are pervasive and affect three major a video repeatedly. Intolerance for change can cause significant
areas: social-­emotional reciprocity, nonverbal communication, and impairment and irritability and have an effect on child and family
understanding of social relationships. The presentation can vary with function.
severity and developmental functioning. A diagnosis of ASD requires
the presence of symptoms from all three categories (Table 58.3). Restricted Interests
This symptom may manifest as interests that seem of greater intensity
Social-­Emotional Reciprocity when compared to same-­age peers. Younger children may play with a
Reduced social interactions in ASD may range from active avoidance limited range of toys or may insist on retaining a small object in each
or reduced social response to having an interest in, but lacking ability hand. Older children may have a strong preference for a particular
to initiate or sustain, an interaction with peers or adults. A young child story or movie. The area of interest may be shared by peers (e.g., Dis-
with ASD may not respond when their name is called, may exhibit lim- ney movies, Legos, Thomas the Train) but unusual in its intensity.
ited showing and sharing behaviors, and may prefer solitary play. In Other affected children may have interests that are both intense and

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 Chapter 58 u Autism Spectrum Disorder 375

Table 58.3  Signs and Symptoms of Possible Autism in Preschool Children (or Equivalent Mental Age)
Spoken Language Eye Contact, Pointing, and Other Gestures
Language delay (in babbling or using words; e.g., using <10 words Reduced or absent use of gestures and facial expressions
by age 2 yr). to communicate (although may place an adult’s hand on
Regression in, or loss of, use of speech. objects).
Spoken language (if present) may include unusual features, such Reduced and poorly integrated gestures, facial expressions, body
as vocalizations that are not speechlike; odd or flat intonation; orientation, eye contact (looking at people’s eyes when speaking),
frequent repetition of set words and phrases (echolalia); reference and speech used in social communication.
to self by name or “you” or “she” or “he” beyond age 3 yr. Reduced or absent social use of eye contact (assuming adequate
Reduced and/or infrequent use of language for communication (e.g., vision).
use of single words, although able to speak in sentences). Reduced or absent “joint attention” (when one person alerts another
to something by means of gazing, finger pointing, or other verbal
Responding to Others or nonverbal indication for the purpose of sharing interest). This
Absent or delayed response to name being called, despite normal would be evident in the child from lack of:
hearing. Gaze switching
Reduced or absent responsive social smiling. Following a point (looking where the other person points to—may
Reduced or absent responsiveness to other people’s facial look at hand)
expressions or feelings. Using pointing at or showing objects to share interest
Unusually negative response to the requests of others (“demand
avoidance” behavior). Ideas and Imagination
Rejection of cuddles initiated by parent or caregiver, although the Reduced or absent imagination and variety of pretend play.
child may initiate cuddles.
Unusual or Restricted Interests and/or Rigid and Repetitive
Interacting with Others Behaviors
Reduced or absent awareness of personal space, or unusually Repetitive “stereotypic” movements such as hand flapping, body
intolerant of people entering their personal space. rocking while standing, spinning, and finger flicking.
Reduced or absent social interest in others, including children of Repetitive or stereotyped play (e.g., opening and closing doors).
own age—may reject others; if interested in others, child may Overfocused or unusual interests.
approach others inappropriately, seeming to be aggressive or Excessive insistence on following own agenda.
disruptive. Extremes of emotional reactivity to change or new situations;
Reduced or absent imitation of others’ actions. insistence on things being “the same.”
Reduced or absent initiation of social play with others; plays alone. Overreaction or underreaction to sensory stimuli, such as textures,
Reduced or absent enjoyment of situations that most children like sounds, or smells.
(e.g., birthday parties). Excessive reaction to the taste, smell, texture, or appearance of
Reduced or absent sharing of enjoyment. food, or having extreme food fads.
Adapted from Baird G, Douglas HR, Murphy MS. Recognizing and diagnosing autism in children and young people: Summary of NICE guidance. BMJ. 2011;343:d6360, Box 1, p. 901.

unusual, such as an interest in brands of vehicles, license plate num- Specifiers Defined in DSM-­5
bers, or fans and heating systems. These interests interfere with social A formal diagnosis of ASD also includes documenting associated
interactions; a child may only want to talk about their area of interest conditions, including whether the individual has cognitive and/or
or may insist that peers act out a particular story in a rigid and inflex- language impairment; any related medical, genetic, or environmen-
ible manner. tal factors; and any other neurodevelopmental or behavioral health
conditions, including catatonia (Table 58.5). This process helps
Hyporeactivity or Hyperreactivity to Sensory Input to better characterize the presentation in an individual child and
Children with ASD may be overly sensitive to sensory input, such ensures that the diagnosis has been made by considering the symp-
as noise, smells, or texture. Children may scream or react strongly toms in the context of the child’s current cognitive and language
when they hear a siren or vacuum and may gag and choke with cer- abilities.
tain foods or odors. They may refuse to wear certain clothing or may
become very distressed with bathing or with cutting nails and hair. EPIDEMIOLOGY
Conversely, some affected children seem to crave sensory input. They The prevalence of ASD is estimated at 1 in 36 persons by the U.S.
may engage in repetitive jumping or hugging and may smell or lick Centers for Disease Control and Prevention (CDC). This infor-
objects or people. Young children may inappropriately touch the face mation comes from prevalence data of 8-­year-­olds derived from
or hair of others. 11 sites participating in the Autism and Developmental Disabili-
Diagnosing ASD with DSM-­5 criteria can be challenging in very ties Network (ADDM) and shows a greater than 300% increase in
young children because of reduced expression of repetitive behaviors, prevalence since systematic surveillance began in the year 2000.
particularly stereotyped behavior and intense interests. Studies moni- The increased prevalence relates, at least in part, to improved diag-
toring development in high-­risk young children who have an older nosis and case finding, as well as inclusion of less severe presenta-
sibling with ASD indicate these additional symptoms may emerge tions within the autism spectrum. There is a 4:1 male predominance,
over time. This creates a dilemma for specialty clinicians evaluating although new emerging information suggests that the prevalence in
very young children for ASD, because they may not be able to endorse females may be higher than previously believed. Females with ASD
sufficient symptoms to make an early diagnosis and access specialized often use “camouflaging,” which is intentionally or unconsciously
intervention services. hiding social communication difficulties by mimicking the facial
expressions of others, having more effective compensatory behav-
Severity Levels Defined in DSM-­5 iors, and displaying less clearly unusual preoccupying interests. All
Severity levels in ASD are based on the level of support the individual of these things, including clinician bias, may decrease girls with
requires in each of the major domains impacted—social communica- ASD being diagnosed. The prevalence is increased in siblings (up
tion and restricted interests and repetitive behavior. Levels range from to 18% recurrence rate) and particularly in identical twins. There
“needing support” (level 1), to “needing substantial support” (level 2), are no racial or ethnic differences in prevalence. Individuals from
to “needing very substantial support” (level 3) (Table 58.4). racial minorities and lower socioeconomic status are at risk for later

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376 Part IV u Learning and Developmental Disorders

Table 58.4  DSM-­5 Severity Levels for Autism Spectrum Disorder

SEVERITY LEVEL SOCIAL COMMUNICATION RESTRICTED, REPETITIVE BEHAVIORS
Level 3 Severe deficits in verbal and nonverbal social communication skills cause Inflexibility of behavior, extreme difficulty
“Requiring very severe impairments in functioning, very limited initiation of social coping with change, or other restricted/
­substantial interactions, and minimal response to social overtures from others. repetitive behaviors markedly interfere with
­support” For example, a person with few words of intelligible speech who functioning in all spheres. Great distress/
rarely initiates interaction and, when he or she does, makes unusual difficulty changing focus or action.
approaches to meet needs only and responds to only very direct social
approaches.
Level 2 Marked deficits in verbal and nonverbal social communication skills; Inflexibility of behavior, difficulty coping with
“Requiring social impairments apparent even with supports in place; limited change, or other restricted/repetitive behaviors
substantial initiation of social interactions; and reduced or abnormal responses to appear frequently enough to be obvious to the
support” social overtures from others. For example, a person who speaks simple casual observer and interfere with functioning
sentences, whose interaction is limited to narrow special interests, and in a variety of contexts. Distress and/or difficulty
who has markedly odd nonverbal communication. changing focus or action.
Level 1 Without supports in place, deficits in social communication cause Inflexibility of behavior causes significant
“Requiring support” noticeable impairments. Difficulty initiating social interactions, interference with functioning in one or
and clear examples of atypical or unsuccessful responses to social more contexts. Difficulty switching between
overtures of others. May appear to have decreased interest in social activities. Problems of organization and
interactions. For example, a person who is able to speak in full planning hamper independence.
sentences and engages in communication but whose to-­and-­fro
conversation with others fails and whose attempts to make friends are
odd and typically unsuccessful.
From the Diagnostic and Statistical Manual of Mental Disorders, 5th ed (Copyright 2013). American Psychiatric Association, p. 52.

diagnosis, although the most recent prevalence data suggest that Despite frequent concerns from families that vaccines or the pre-
this gap is closing. servatives in vaccines lead to ASD, there is no evidence to support this
claim. Multiple research studies and meta-­analyses have failed to show
ETIOLOGY an association of vaccines with ASD.
The etiology of ASD is thought to result from disrupted neural con- No biomarkers are available yet, but there is emerging evidence from
nectivity and is primarily impacted by genetic variations affecting neuroimaging findings, electrophysiologic testing, and eye tracking
early brain development. Animal models and studies of individuals that hold the promise for presymptomatic detection along with accu-
with ASD indicate changes in brain volume and neural cell density rate clinical diagnosis and prognostic assessment.
in the limbic system, cerebellum, and frontotemporal regions. One
study documented changes in early brain development, character- DIFFERENTIAL DIAGNOSIS
ized as “hyperexpansion of cortical surface area,” at age 6-­12 months The differential diagnosis of ASD is complex because many conditions
on brain MRI, which correlated with later development of impaired in the differential can also occur with ASD. The most important condi-
social skills. Functional studies show abnormalities of processing tions to consider in young children are language disorder (see Chapter
information, particularly related to foundational social skills such 53), ID or GDD (Chapter 56), and hearing loss (Chapter 55). Children
as facial recognition. The disruptions in early brain development with language disorder may have impairments in social commu-
likely are responsive to treatment. Early developmental therapies in nication and play; their social and play skills, however, are typically
young children with ASD have demonstrated the capacity for nor- on par with their language level. In addition, they do not have asso-
malization of electrophysiologic response to visual stimuli, includ- ciated restricted and repetitive behavior or atypical use of language,
ing faces. such as scripting. The diagnosis of social communication disorder
Numerous genes involved in brain development and synaptic func- is also distinguished from ASD by the lack of restrictive and repeti-
tion have been associated with ASD. Pathogenic variants that include tive behaviors. Children with ID or GDD may have delays in social
large genetic deletions or duplications and small sequencing changes and communication skills as well as stereotyped behavior. However,
have been implicated; these can be inherited or occur de novo. Hetero- social and communication skills are typically commensurate with their
zygous mutations in genes, such as present in deletion or duplication cognitive and adaptive functioning. Children with hearing loss may
of 15q11.2 or 16p11.2, may have variable expression within a family. present with some “red flags” for ASD, such as poor response to
Rare recessive mutations have been implicated in some populations name. However, they typically develop nonverbal communication
with high levels of consanguinity. Patients with a number of genetic and play skills as expected and do not have stereotyped or restricted
syndromes (e.g., fragile X, Down, Smith-­Lemli-­Opitz, Rett, Angelman, behavior patterns.
Timothy, Joubert), as well as disorders of metabolism and mitochon- In older children, disorders of attention, learning, and mood regula-
drial function have higher rates of ASD than the general population tion must be considered in the differential diagnosis of ASD. Children
(Tables 58.5, 58.6, and 58.7). with attention-­ deficit/hyperactivity disorder (ADHD) may pres-
There is also possible evidence for environmental contributions to ent with reduced eye contact and response to name caused by poor
ASD. Older maternal or paternal age may increase the risk of ASD. attention rather than lack of social awareness. Children with ADHD,
In addition, factors influencing the intrauterine environment, such as however, do not have associated impairments in shared enjoyment and
maternal obesity or overweight, short interval from prior pregnancy, social reciprocity or repetitive behaviors. Children with social anxiety
premature birth, and certain prenatal infections (e.g., rubella, cyto- or other anxiety disorders may present with some symptoms suggestive
megalovirus), are associated with ASD. Population-­level associations of ASD. Shy children may have reduced eye contact and social initia-
have been investigated for environmental toxins such as organophos- tion. Anxious children can be resistant to change and prefer familiar
phates, pesticides, air pollution, and volatile organic compounds. An routines. Children with anxiety, however, typically will have preserved
epigenetic model is considered one explanation for the etiology; indi- social interest and insight and will not exhibit high levels of stereotyped
viduals with genetic vulnerability may be more sensitive to environ- behaviors. Reactive attachment disorder can be difficult to distinguish
mental factors influencing early brain development. from ASD, particularly in younger children with a history of prolonged

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 Chapter 58 u Autism Spectrum Disorder 377

Table 58.5  Common Co-­occurring Conditions in Autism Spectrum Disorder (ASD)

INDIVIDUALS WITH
COMORBIDITY AUTISM AFFECTED COMMENTS
DEVELOPMENTAL DISORDERS
Intellectual disability ∼45% Prevalence estimate is affected by the diagnostic boundary and definition of
intelligence (e.g., whether verbal ability is used as a criterion).
In individuals, discrepant performance between subtests is common.
Language disorders Variable An autism-­specific language profile (separate from language disorders) exists, but with
substantial interindividual variability.
Tic disorders 14–38% ∼6.5% have Tourette syndrome.
Motor abnormality ≤79% See Table 58.2.
GENERAL MEDICAL DISORDERS
Epilepsy 35-46% Increased frequency in individuals with intellectual disability or genetic syndromes.
Two peaks of onset: early childhood and adolescence.
Increases risk of poor outcome.
Gastrointestinal problems 9–70% Common symptoms include chronic constipation, abdominal pain, chronic diarrhea,
cyclic vomiting, and gastroesophageal reflux.
Associated disorders include gastritis, esophagitis, gastroesophageal reflux disease,
inflammatory bowel disease, celiac disease, Crohn disease, and colitis.
Immune dysregulation ≤38% Associated with allergic and autoimmune disorders.
Genetic disorders 10–20% Collectively called syndromic autism.
Examples include fragile X syndrome (21–50% of individuals affected have autism), Rett
syndrome (most have autistic features but with profiles different from idiopathic autism),
tuberous sclerosis complex (24–60%), Down syndrome (5–39%), phenylketonuria (5–20%),
CHARGE syndrome* (15–50%), Angelman syndrome (50–81%), Timothy syndrome
(60–70%), and Joubert syndrome (∼40%).
Sleep disorders 50–80% Insomnia is the most common.
BEHAVIORAL HEALTH DISORDERS
Any behavioral health disorder 70–90%
ADHD 40–70%
Anxiety ∼40% Common across all age-­groups.
Most common are social anxiety disorder (13–29% of individuals with autism) and
generalized anxiety disorder (13–22%).
High-­functioning individuals are more susceptible (or symptoms are more detectable).
Catatonia Unknown Autism shutdown disorder similar to Down syndrome disintegrative disorder
(see Chapters 47.3 and 57).
Depression 12–70% Common in adults, less common in children.
High-­functioning adults who are less socially impaired are more susceptible (or
symptoms are more detectable).
Obsessive-­compulsive disorder 7–24% Shares the repetitive behavior domain with autism that could cut across nosologic
(OCD) categories.
Important to distinguish between repetitive behaviors that do not involve intrusive,
anxiety-­causing thoughts or obsessions (part of autism) and those that do (and are
part of OCD).
Psychotic disorders 12–17% Mainly in adults.
Most commonly recurrent hallucinosis.
High frequency of autism-­like features (even a diagnosis of ASD) preceding adult-­onset
(52%) and childhood-­onset schizophrenia (30–50%).
Substance use disorders ≤16% Potentially because individual is using substances as self-­medication to relieve anxiety.
Oppositional defiant disorder 16–28% Oppositional behaviors could be a manifestation of anxiety, resistance to change,
stubborn belief in the correctness of own point of view, difficulty seeing another’s
point of view, poor awareness of the effect of own behavior on others, or no interest
in social compliance.
Eating disorders 10-21% Avoidant/restrictive food intake may lead to nutrient deficiencies and poor growth.
PERSONALITY DISORDERS†
Paranoid personality disorder 0–19% Could be secondary to difficulty understanding others’ intentions and negative
interpersonal experiences.
Schizoid personality disorder 21–26% Partly overlapping diagnostic criteria.
Schizotypal personality 2–13% Some overlapping criteria, especially those shared with schizoid personality disorder.
disorder
Borderline personality disorder 0–9% Could have similarity in behaviors (e.g., difficulties in interpersonal relationships,
misattributing hostile intentions, problems with affect regulation), which requires
careful differential diagnosis.
Could be a misdiagnosis of autism, particularly in females.
Obsessive-­compulsive 19–32% Partly overlapping diagnostic criteria.
personality disorder
Avoidant personality disorder 13–25% Could be secondary to repeated failure in social experiences.
Continued

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378 Part IV u Learning and Developmental Disorders

Table 58.5  Common Co-­occurring Conditions in Autism Spectrum Disorder (ASD)—cont’d

INDIVIDUALS WITH
COMORBIDITY AUTISM AFFECTED COMMENTS
BEHAVIORAL DISORDERS
Aggressive behaviors ≤68% Often directed toward caregivers rather than noncaregivers.
Could be a result of empathy difficulties, anxiety, sensory overload, disruption of
routines, and difficulties with communication.
Self-­injurious behaviors ≤50% Associated with impulsivity and hyperactivity, negative affect, and lower levels of ability
and speech.
Could signal frustration in individuals with reduced communication, as well as anxiety,
sensory overload, or disruption of routines.
Could also become a repetitive habit.
Could cause tissue damage and need for restraint.
Pica ∼36% More likely in individuals with intellectual disability.
Could be a result of a lack of social conformity to cultural categories of what is deemed
edible, or sensory exploration, or both.
Suicidal ideation or attempt 11–14% Risks increase with concurrent depression and behavioral problems and after being
teased or bullied.
*Coloboma of the eye; heart defects; atresia of the choanae; retardation of growth and development, or both; genital and urinary abnormalities, or both; and ear abnormalities and deafness.
†Particularly in high-­functioning adults.

DSM-­IV, Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition; DSM-­5, Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition.
Adapted from Lai MC, Lombardo MV, Baron-­Cohen S. Autism. Lancet. 2014;383:896–910.

Table 58.6  Syndromes with Autistic-­Like Behaviors Table 58.7  Inborn Errors of Metabolism with Autistic-­Like
Behavior
CHROMOSOME DELETIONS OTHER SYNDROMES
1q21 2q37 monosomy Adenylosuccinate lyase deficiency
7q11.28 Angelman Biotinidase deficiency
16p11.2 Bardet-­Biedl Cerebral creatinine deficiency
17q12 Cardiofaciocutaneous Cerebral folate deficiency
2q23.1 (MBD5*) CHARGE association Ceroid lipofuscinosis (infantile)
12q24.3 Cohen Cystathionine β-­synthase deficiency
Cri-­du-­chat (5p15.2-­p15.33) Congenital rubella Dihydropyrimidinase deficiency
22q deletion syndrome Cornelia de Lange Disorders of creatine transport or metabolism
Jacobsen (11q23.2) Costello Homocystinuria
Phelan-­McDermid (SHANK3; FOXG1 variants Lesch-­Nyhan syndrome
22q13) Fragile X Methylenetetrahydrofolate reductase deficiency
Pitt-Hopkins (18q21.2) Hypomelanosis of Ito Mitochondrial disorders
Joubert Mucopolysaccharidosis
CHROMOSOME DUPLICATIONS Kleefstra (EHMT1) Phenylketonuria (untreated)
15q11.1-­q13.3 Lujan-­Fryns
7q11.23 Modified from Kliegman RM, Toth H, Bordini BJ, Basel D, eds. Nelson Pediatric
Moebius sequence Symptom-­Based Diagnosis, 2nd ed. Philadelphia: Elsevier; 2023: Table 32.8, p. 539.
18q12.2 Muscle-­eye brain disease
16p11.2 Myotonic dystrophy
1q21.1 Neurofibromatosis neglect or trauma. However, social behaviors in these children gener-
22q11.2 Nonsyndromic intellectual ally improve with positive caretaking.
Potocki-Lupski (17p11.2) disability due to SYNGAP1 The differentiation of ASD from obsessive-­compulsive disorder
variants (OCD), tics, and stereotyped behaviors can sometimes be challenging.
EPILEPSY ENCEPHALOPATHIES, Noonan
EPILEPSY In general, stereotyped behaviors may be calming or preferred, whereas
Oculoauriculovertebral spectrum
Cortical dysplasia focal epilepsy (including Goldenhar) tics and compulsive routines generally are distressing to the individual.
SCN1A-­related syndromes Partial monosomy 1p36 Children with OCD have intense interests, as well as repetitive behav-
(Dravet, Lennox Gastaut, others) Partial tetrasomy 15 iors and rituals, but do not have impairment in social communication
Early myoclonic encephalopathies Prader-­Willi or interaction. Children with stereotypic movement disorder will not
(Ohtahara: STXBP1, ARX, SIK1) PTEN variants have impaired social skills or other types of restricted and repetitive
SCN2A-­related syndromes Rett complex (female >> male) behaviors. Children with Landau Kleffner syndrome (LKS) present
(West, others) Ring chromosome 14 with a loss of skills in language comprehension (auditory verbal agno-
SLC6A1 myotonic-­atonic SETD1B variants
epilepsy sia) and verbal expression (aphasia) associated with onset of epileptic
Sex chromosome aneuploidies
HCN1-­related epilepsies seizures during sleep (see Chapter 53). In contrast to ASD, children
Sashi-­Pena (ASXL2)
CDKL5 Smith-­Lemli-­Opitz with LKS usually present with typical early development followed by
SCN8A Smith-­Magenis loss of language function at age 3-­6 years.
PCDH19 Sotos
SCL35A2-­related disorders Timothy CO-­OCCURRING CONDITIONS
Epilepsy-­aphasia spectrum Tolchin-­Le Caignec (TOLCAS) Between 35% and 50% of individuals with ASD have ID, ranging in
(Landau-­Kleffner; GRIN2A; Trisomy 21 severity from mild to severe (see Table 58.5). An additional 23% of
continuous spike wave during Tuberous sclerosis children have intellectual functioning in the borderline range (IQ
low-­wave sleep) WAGR
Juvenile myoclonic epilepsy = 71-­85), and approximately 40% of individuals with ASD are non-
Wiedemann-­Steiner (KMT2A)
(RING2) verbal. ID is associated with higher rates of both identified genetic
Williams
conditions and epilepsy. Children with ASD often have associated
*Italics denoted affected gene language impairments, including delays in expressive, receptive,
Modified from Kliegman RM, Toth H, Bordini BJ, Basel D, eds. Nelson Pediatric and pragmatic (social) language skills. Language function can range
Symptom-­Based Diagnosis, 2nd ed. Philadelphia: Elsevier; 2023: Table 32.6, p. 537.

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 Chapter 58 u Autism Spectrum Disorder 379

widely from nonverbal status to age appropriate. Gastrointestinal ASSESSMENT

(GI) problems such as cyclic vomiting, constipation, esophagitis, Diagnostic assessment optimally should include medical evaluation
and gastroesophageal reflux disease (GERD) are reported in up to and assessment of the child’s cognitive, language, and adaptive func-
70% of children with ASD. Epilepsy occurs in up to 35–46% of chil- tion. Developmental-­ behavioral pediatricians, neurodevelopmental
dren with ASD and presents in two peaks: in early childhood and in disability specialists, neurologists, psychiatrists, and psychologists are
adolescence. Children with ID, female gender, and lower gestational qualified to make a formal diagnosis of ASD. Other specialists, includ-
age are at higher risk for having seizures. ing speech-­language pathologists and occupational therapists, should
Overall, between 70% and 90% of children with ASD are identified also be included depending on the child’s age and the presenting
as having a co-­occurring behavioral health condition, with ADHD concerns.
being the most common, occurring in between 40% and 70% of chil- Assessment of ASD includes direct observation of the child to
dren with ASD. There are higher rates of anxiety (∼40%) and mood evaluate social-­communicative skills and behavior. Informal obser-
disorders in ASD, particularly during adolescence. Children with ASD vation can be supplemented with structured diagnostic tools such as
are also at increased risk for being bullied and may present with sec- the Autism Diagnostic Observation Schedule, Second Edition (ADOS-­
ondary irritability, anxiety, or depression. Adolescents may develop 2) or the Toddler module (ADOS-­T). These structured play-­based
gender-­nonconforming roles, gender variance, and transgender identi- assessments provide social prompts and opportunities to evaluate the
ties; this may also lead to being bullied. Children with ASD are at high frequency and quality of a child’s social responsiveness to, initiation,
risk for suicidal ideation and attempts. Catatonia can also occur, most and maintenance of social interactions, the capacity for joint atten-
commonly developing during the teenage years, and may present with tion and shared enjoyment; the child’s behavioral flexibility; and the
changes in activity level, unusual movements, and behavioral regres- presence of repetitive patterns of behavior and preoccupying inter-
sion or loss of skills (Chapter 47.3). ests. These measures also provide some understanding of a child’s
Sleep problems, including delayed sleep onset, frequent night wak- insight about social relationships and emotional awareness. The
ing, and abnormal sleep architecture, are reported in 50–80% of chil- ADOS-­2 and ADOS-­T are not required for accurate diagnosis and do
dren with ASD. There is some evidence for baseline abnormalities in not stand alone, but rather can be used to augment a careful history
melatonin secretion. The use of screen-­based activities such as tele- and observation. The Childhood Autism Rating Scale, Second Edition
vision, computers, or tablets before bedtime can inhibit melatonin (CARS-­2) is a 15-­item direct clinical observation instrument that
secretion. can assist clinicians in the diagnosis of ASD. The Autism Diagnostic
Children with ASD commonly have high rates of feeding and Interview-­Revised (ADI-­R) is a lengthy clinical interview tool that is
toileting problems resulting from resistance to change, sensory used primarily in research settings because it takes several hours to
sensitivity, and repetitive behavior patterns. Many children with administer. Other tools include standardized rating scales, such as
ASD have restrictive feeding patterns and food selectivity. DSM-­5 the Social Responsiveness Scale or the Social Communication Ques-
introduced the diagnosis of avoidant and restrictive food intake tionnaire, that parents and teachers can complete to report on the
disorder (ARFID) that, although not specific to children with child’s social skills and behaviors. There is an emergence of the use of
ASD, describes a pattern of a severely disturbed eating experience telehealth to assess children with ASD, and preliminary studies have
resulting in nutritional deficiency or inadequate weight gain and suggested that 80% of children could be determined to have or not
may affect as many as 21% of children with ASD. Restrictive eating have ASD with reasonable certainty.
patterns may lead to nutritional deficiencies, such as scurvy, rick- Medical evaluation should include a thorough history and detailed
ets, anemia, or protein malnutrition. Children with ASD also have physical examination of the child, including direct behavioral observa-
higher rates of overweight, possibly because of diets higher in car- tions of communication and play. In addition, the examination should
bohydrates, reduced physical activity, use of food rewards to regu- include measurement of head circumference, careful evaluation for
late behavior, and side effects from medications used for managing dysmorphic features, and screening for tuberous sclerosis with Wood
mood and behavior. As many as 25% of preschool-­age children with lamp exam. Children with ASD should have genetic testing, an audiol-
ASD have pica (eating of nonfood items), and this tends to persist ogy examination to rule out hearing loss, and in children with pica, a
in children with co-­occurring ID. lead test (Table 58.8).
Self-­injury and aggression are common in ASD patients, but most There are currently several specialty-­specific clinical guidelines for
common in individuals with lower cognitive function and limited lan- genetic evaluation of children diagnosed with ASD. Genetic testing is
guage. Sleep deprivation, nutritional deficits, pain, epilepsy, and medi- shown to impact clinical decision-­making, but no studies have evalu-
cation side effects may contribute to these behaviors. ated the impact of genetic testing on the outcome for the child. The
Wandering frequently co-­occurs with ASD, with nearly 50% of chil- American College of Medical Genetics recommends a tiered approach
dren between 4 and 10 years of age reported as trying to elope. In chil- to genetic testing.
dren who were missing long enough to call the police, approximately
66% were at risk for traffic-­related injury and nearly 30% had near-­ Initial Etiologic Assessment
drowning events, which is the leading cause of death in children who All children with ASD should have a chromosomal microarray
wander. (CMA). CMA will be positive in 10–15% of individuals with ASD.
The rate is increased to almost 30% in individuals who have complex
SCREENING presentations, such as associated microcephaly, dysmorphic features,
The American Academy of Pediatrics recommends screening for ASD congenital anomalies, or seizures. CMA technology will identify copy
for all children at age 18 months and 24 months (see Chapter 28). number variants but not DNA sequencing errors, balanced transloca-
Screening should also occur when there is increased risk for ASD, such tions, or abnormalities in trinucleotide repeat length. Fragile X DNA
as a child with an older sibling who has ASD, or whenever there is testing is recommended for all males with ASD. Fragile X testing should
concern for possible ASD. Screening can be done by a parent checklist also be considered in females with physical features suggestive of frag-
or direct assessment. The most frequently used screening tool is the ile X syndrome or with a family history of fragile X, X-­linked pattern of
Modified Checklist for Autism, Revised/Follow-­Up Interview (MCHAT- ID, tremor/ataxia, or premature ovarian failure (see Chapter 59).
­R/FU), a 20-­item parent report measure, with additional standardized
parent interview completed for intermediate scores. The MCHAT-­R/ Second Tier Etiologic Assessment
FU can be used from age 16-­30 months. Children who score ≥8 or Females with ASD should have testing for pathologic variants in the
between 3 and 7 after the parent interview are at high risk for a diag- MeCP2 gene. Males who have hypotonia, drooling, and frequent respi-
nosis of ASD or some developmental delay. The Parent’s Observation ratory infections should have MeCP2 deletion/duplication testing.
of Social Interaction (POSI) is another commonly used autism specific All individuals with ASD and a head circumference greater than 2.5
screener. It includes seven items.

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380 Part IV u Learning and Developmental Disorders

disorder. If the initial genetic testing is negative, clinicians should con-

Table 58.8  Medical and Genetic Evaluation of Children sider ordering this test in conjunction with genetic counseling to aid in
with Autism Spectrum Disorder understanding results.
PHYSICAL EXAMINATION
Dysmorphic physical features
TREATMENT AND MANAGEMENT
Muscle tone and reflexes Approaches to Intervention
Head circumference The primary treatment for ASD is done outside the medical setting
Wood lamp examination for tuberous sclerosis and includes developmental and educational programming (Fig. 58.1).
Numerous resources have been developed that can help families in the
DIAGNOSTIC TESTING complex process of treatment planning (Table 58.9). Intensive behav-
Chromosomal microarray (CMA) in all individuals ioral therapies have the strongest evidence to date. Earlier age at ini-
Fragile X DNA test in males tiation of treatment and higher intensity of treatment are associated
Audiology and vision evaluation with better outcomes, although recent studies comparing two different
Lead test in children with pica treatments at different levels of intensity (15 vs 25 hr/wk) did not show
ADDITIONAL TARGETED GENETIC TESTING significant differences between groups in any of the outcomes assessed.
Fragile X DNA test in females with symptoms suggestive of fragile
Programming must be individualized, and no approach is successful
X, family history of X-­linked intellectual disability, tremor, ataxia, or for all children. In addition, research treatments are often conducted
premature ovarian failure with a high level of intensity and fidelity that is difficult to scale up
MeCP2 sequencing in females or reproduce in community settings. Higher cognitive, play, and joint
PTEN testing if head circumference >2.5 standard deviations (SD) attention skills and lower symptom severity at baseline are predictors
above the mean for better outcomes in core symptoms, intellectual function, and lan-
MeCP2 deletion/duplication testing in males with significant guage function.
developmental regression, drooling, respiratory infections, and There are many evidence-­based approaches to treating children with
hypotonia ASD, with three main approaches identified. The intervention with the
Karyotype if unable to obtain CMA or if balanced translocation strongest evidence base is applied behavioral analysis (ABA), which
suspected is based on the principles of direct incremental teaching of skills within
ADDITIONAL TARGETED DIAGNOSTIC TESTING a traditional behavioral framework using reinforcement of desired
Electroencephalogram (EEG) in children with seizures, staring spells, behavior, careful data collection, and analysis and adjustment of the
or developmental regression treatment program based on review of data. The second is develop-
Brain MRI in children with dysmorphology, microcephaly, focal neurologic mental relationship-­ based intervention (DRBI), which includes
findings, seizures, severe hypotonia, or developmental regression parent-­mediated interventions that focus on building warm, mean-
Metabolic testing in children with developmental regression, ingful interaction to improve communication, learning, and problem
hypotonia, seizures, food intolerance, cyclic vomiting, lethargy, solving. The best-­known approach in this category is Floortime. The
hearing loss, ataxia, or course facial features third approach is the naturalistic developmental behavioral inter-
Exome or genome sequencing if atypical features are present vention, which builds upon ABA to incorporate more choices for chil-
(behavioral or dysmorphic) (see Table 56.1) dren and is implemented in natural situations. Comprehensive models
Data from Schaefer GB, Mendelsohn NJ. Clinical genetics evaluation in identifying
integrating behavioral and developmental approaches that build on
the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. key foundational skills, such as joint attention, shared enjoyment, and
2013;15(5):399–407 and Lord C, Charman T, Havdahl A, et al. The Lancet Commission reciprocal communication, show strong evidence of efficacy for young
on the future of care and clinical research in autism. Lancet. 2022;399:271–326. children, particularly toddlers, with ASD. Examples include the Early
Start Denver Model (ESDM), Joint Attention Symbolic Play Engagement
and Regulation (JASPER), and Social Communication/Emotional Regu-
standard deviations (SD) above the mean should have testing for patho- lation/Transactional Support (SCERTS).
logic variants in the PTEN gene because there is a risk for hamartoma Educational approaches such as the Treatment and Education of
tumor disorders (Cowden, Proteus-­ like, Bannayan-­ Riley-­
Ruvakaba Autistic and Communication Handicapped Children (TEACCH) incor-
syndromes) in these individuals. Cytogenetic testing (karyotype) has a porate structured teaching, visual supports, and adjustment of the
lower yield than CMA. Karyotype is recommended if microarray is not environment to the individual needs of students with ASD, such as dif-
available and in children with suspected balanced translocation, such ficulty with communication, understanding time, and need for routine.
as history of multiple prior miscarriages. These approaches have demonstrated efficacy for improved cognitive
Further medical diagnostic testing is indicated by the child’s history and adaptive skills. For older children with more severe symptoms,
and presentation. Brain imaging (MRI) is indicated in cases of micro- approaches that use behavioral principles in addition to adjusting the
cephaly, significant developmental regression, seizures, or focal findings environment may be most effective.
on neurologic examination. Because of the high rate (up to 25%) of mac- Speech and language therapy can help build vocabulary, comprehen-
rocephaly in ASD, imaging is not indicated for macrocephaly alone. MRI sion, and pragmatic skills. Children with ASD benefit from visual supports
is not recommended for minor language regression (loss of a few words) for comprehension, understanding expectations, and communicating their
during the second year of life that is often described in toddlers with needs. Augmentative communication approaches using photographs or
ASD. Children with concern for seizures, spells, or developmental regres- picture icons can improve comprehension and ability to communicate (see
sion should have an electroencephalogram (EEG). Metabolic screening is Chapter 54). There are a range of options with varying levels of complex-
indicated for children with signs of a metabolic or mitochondrial disor- ity, flexibility, and technology. Using augmentative communication does
der, such as developmental regression, weakness, fatigue, lethargy, cyclic not inhibit acquisition of verbal language. On the contrary, supporting a
vomiting, or seizures (see Table 58.7 and Chapters 56 and 104). child’s language development with augmentative supports can facilitate the
development of spoken language, even in older children.
Next-­Generation Sequencing Additional strategies to build social skills are used for school-­age
Whole exome sequencing (WES) can identify single-­nucleotide vari- children and adolescents and may be administered in the school
ants, including pathogenic loss of function mutations and missense or community setting by a variety of specialists, including speech
mutations; studies have identified a molecular diagnosis in nearly 30% therapists, psychologists, and counselors. Social skills programs
of individuals tested because of the presence of a neurodevelopmental that include training peer mentors have higher rates of efficacy.

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 Chapter 58 u Autism Spectrum Disorder 381

Preschool age School age Adolescence Adults (18 years and older)
(before the age of 6 years) (between the ages of 6 and 11 years) (between the ages of 12 and 17 years)

Family

Family Adult

Family Adolescent
Child
Community
School or
Child community
Family School or
community
Community
(preschool
childcare)

Family Family Family Family

• Family psychoeducation • Behavior management (RUBI) • As supports in group • As advocates
• Family coaching around core Child • Behavior management Adults
features • General approaches (eg, PRT and Adolescents • CBT
• Parent-mediated treatments (eg, DTT) • CBT (eg, Coping Cat and BIACA) • Social skills (eg, PEERS)
JASPER, Early Social Interaction, • Academic skills • Social skills (eg, PEERS) • Psychopharmacology
and PACT) • Social skills (eg, PEERS) • Psychopharmacology • Pre-employment
• Behavior management (as • Specific disciplines (eg, • Academic skills Community
advocates) psychopharmacology) Community • Support in education
Child • CBT (eg, Coping Cat and Facing your • School inclusion • Support in employment
• Specific short-term therapies (eg, Fears) • Classes • Support in housing
JASPER) Community • Special education • Sports and activities
• General approaches (eg, PRT, • School inclusion • Sports and community • Project ImPACT job training
Project ImPACT, and DTT) • Classes • Project SEARCH
• Comprehensive curricula (eg, ESDM • Special education
and Lovaas approach • Sports and community programs
• Specific disciplines (eg,
occupational therapy and speech)
Community
• Support in childcare and preschool
(no evidence)
• ESDM classrooms
• TEACCH classrooms
• LEAP classrooms

Fig. 58.1 Sources of support and locations of treatment. The size of each ellipse represents the extent of care or intervention received. BIACA,
Behavioral Interventions for Anxiety in Children with Autism; CBT, cognitive-­behavioral therapy; DTT, discrete trial training; ESDM, Early Start Denver
Model; ImPACT, Improving Parents as Communication Teachers; JASPER, Joint Attention, Symbolic Play, Engagement, and Regulation approach;
LEAP, Learning Experiences and Alternative Program for Preschoolers and their Parents; PACT, Preschool Autism Communication Trial; PEERS,
Program for the Education and Enrichment of Relational Skills; PRT, Pivotal Response Treatment; RUBI, Research Units in Behavioral Intervention;
TEACCH, Treatment and Education of Autistic and Related Communication Handicapped Children program. (From Lord C, Charman T, Havdahl A,
et al. The Lancet Commission on the future of care and clinical research in autism. Lancet. 2022;399:271–326, Fig. 6, p. 287.)

skills), learning to fill out a job application, and understanding how

Table 58.9  Autism Resources for Families
to behave with strangers and in work settings. Social skills and job
Autism Speaks First 100 Days kit coaching may be needed even for adolescents with strong cognitive
https://www.autismspeaks.org/family-­services/tool-­kits/100-­day-­kit and academic function, because they may struggle with social per-
Autism Speaks Toolkits–dental, transition, guardianship ception and may be vulnerable to exploitation by others.
https://www.autismspeaks.org/family-­services/tool-­kits There continue to be disparities in regard to accessing care, with
AACAP Autism Spectrum Disorder Parent’s Medication Guide racially and ethnically minoritized groups and children from low-­
https://www.aacap.org/App_Themes/AACAP/Docs/resource_ income families showing less access to acute care and specialized, com-
centers/autism/Autism_Spectrum_Disorder_Parents_Medicat munity and educational services, when compared with higher-­income
ion_Guide.pdf and White families.
Sexuality information for individuals with developmental disability
http://vkc.mc.vanderbilt.edu/healthybodies/ Co-­occurring Conditions
Additional medical or behavioral health treatment is often required
for the management of co-­occurring conditions in ASD. Seizures
Occupational and physical therapy may be indicated for individu- occur in up to 35% of children with ASD and should be man-
als with motor delay and difficulty acquiring adaptive skills such as aged with appropriate antiepileptic therapy (see Chapter 633). GI
dressing and toileting. problems (e.g., cyclic vomiting, constipation, esophagitis, GERD)
For some high school students with ASD, training in life skills may present with nonspecific irritability, sleep disturbance, self-­
and vocational skills is critical for maximizing independence in injury, aggression, and signs of pain or discomfort, such as crying,
adulthood. Training may focus on basic self-­care (e.g., dressing, and can be managed with the same approaches used in typically
hygiene), functional academics (e.g., money management, banking

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382 Part IV u Learning and Developmental Disorders

Table 58.10  Common Pharmacologic Treatments in Autism Spectrum Disorder (ASD)

TARGET SYMPTOM MEDICATION CLASS* EFFECTS SIDE EFFECTS MONITORING
Hyperactivity and/or Stimulants Decreased hyperactivity, Activation, irritability, emotional Height, weight, BP, HR
Inattention impulsivity, improved lability, lethargy/social withdrawal,
­attention stomach ache, reduced appetite,
insomnia, increased stereotypy
α2-­Agonists Decreased hyperactivity, Drowsiness, irritability, enuresis, Height, weight, BP, HR
impulsivity, improved decreased appetite, dry mouth,
attention hypotension
Selective norepinephrine Decreased hyperactivity, Irritability, decreased appetite, Height, weight, BP, HR
reuptake inhibitor ­impulsivity, improved fatigue, stomach ache, nausea,
­attention vomiting, racing heart rate
Anxiety Selective serotonin Decreased anxiety Activation, hyperactivity, Weight, BP, HR
­reuptake inhibitors inattention, sedation, change in
appetite, insomnia, stomachache,
diarrhea
Citalopram: prolonged QTc interval
Irritability Atypical antipsychotics Decreased irritability, Somnolence, weight gain, Weight, BP, HR
(risperidone, aggression, self-­injurious extrapyramidal movements, Monitor CBC, cholesterol,
aripiprazole) behavior, repetitive drooling, tremor, dizziness, ALT, AST, prolactin,
behavior, ­hyperactivity vomiting, gynecomastia glucose or hemoglobin
A1c
Insomnia Melatonin Shortened sleep onset Nightmares, enuresis —
*Specific medication names are provided in parentheses when there is a Food and Drug Administration (FDA)–approved indication for the use of the medication to treat the
symptom in children with ASD. Further information about these medications is available in Chapter 33.
BP, Blood pressure; HR, heart rate; CBC, complete blood count; ALT, alanine transaminase; AST, aspartate transaminase.

developing children. Children with pica should have lead and iron Pharmacology
levels monitored. There are currently no medications that treat the core symptoms of
Management of co-­ o ccurring attention and mood disorders ASD. Medications can be used to target specific co-­occurring condi-
is similar to that for typically developing children. Strategies to tions or symptoms (Table 58.10; see also Table 58.5). Families should
increase structure and organization in the environment and use of be cautioned, however, that the effect size may be lower and the rate of
visual supports (e.g., schedules) can improve attention and reduce medication side effects higher in children with ASD.
anxiety. Some children with ASD benefit from modified cognitive-­ Preliminary data suggested that intranasal therapy with neuropep-
behavioral therapy to address anxiety and OCD. (see Chapter 31). tide oxytocin may improve social functioning in children with ASD,
Strategies to promote sleep hygiene and use of behavioral particularly those with low pretreatment oxytocin levels, but a recent
approaches, such as structured bedtime routines, can address randomized trial did not demonstrate any effect of oxytocin on social
delayed sleep onset. Other medical problems, such as epilepsy or or cognitive functioning.
GERD, can also contribute to poor sleep and should be treated There is evidence to support the use of stimulant medications,
directly. In cases refractory to behavioral approaches, medications atomoxetine, and α-­agonists for ADHD in ASD. Selective serotonin
may be used. reuptake inhibitors (SSRIs) can be used for anxiety and OCD and in
Structured behavioral approaches for delayed toilet training in adolescents may also be useful for depression. Benzodiazepines may
concert with treatment to prevent constipation are often needed be useful for situational anxiety, for example, triggered by dental and
for children with ASD. For children with highly restrictive diets, medical procedures or air travel. Medications used to treat ADHD and
nutrition counseling and behaviorally based feeding therapy may anxiety may result in activation or irritability in ASD and require care-
be needed to address poor caloric intake or lack of nutritional qual- ful monitoring.
ity. Because of limited diets, children with ASD may be at risk for Melatonin can be used to improve sleep onset but will not address
low levels of calcium, vitamins C and D, and iron. Children who are night waking. Clonidine or trazodone may be used for sleep onset and
overweight may still have poor nutrition as a result of restrictive maintenance. No medications are specifically labeled for treatment of
diets. insomnia in ASD.
Irritability is a nonspecific symptom and can be a reflection of pain, The α-­adrenergic agonists may be helpful in children who pres-
anxiety, distress, or lack of sleep. Children with ASD are prone to irri- ent with significant behavioral dysregulation. There are two atypical
tability because of their difficulty tolerating change and their limited antipsychotic medications that have U.S. Food and Drug Admin-
communication skills. Management of irritability includes evaluating istration (FDA) recommendation for irritability and aggression in
carefully for medical problems that may be causing pain and for any children with ASD. Both risperidone and aripiprazole have several
factors in the child’s home or school environment that may be caus- studies documenting efficacy for reducing irritability, aggression,
ing distress. Possible causes of distress range from common experi- and self-­injury. Secondary improvements in attention and repeti-
ences such as changes in the routine to undisclosed abuse or bullying. tive behavior were also noted. Side effects include weight gain and
Treatment should be targeted first at any underlying cause. Medica- metabolic syndrome, as well as tardive dyskinesia and extrapyra-
tions are often used to treat irritability in ASD, but should only be used midal movements. Careful laboratory monitoring is recommended.
after appropriate behavioral and communication supports have been Mood-­stabilizing antiepileptic medications have also been used to
implemented. treat irritability.

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 Chapter 59 u Fragile X Syndromes 383

Complementary and Alternative Medicine can be extrapolated to younger children currently receiving inten-
Families of children with ASD often use complementary and alter- sive educational therapies. There is a growing network of adult
native medicine (CAM) approaches. These treatments can include self-­advocates who promote the unique strengths in individuals
supplements, dietary changes, and body or physical treatments. There with ASD. Outcome, as measured by developmental progress and
is limited evidence to inform families, who often learn about these functional independence, is better for individuals who have higher
treatments from friends and family members, alternative medicine cognitive and language skills and lower ASD severity at initial
providers, or the internet. For most therapies, evidence is insufficient diagnosis.
to show benefit. There is strong evidence that secretin and facilitated
communication are not effective. Some therapies, such as hyperbaric Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography
oxygen, chelation, and high-­dose vitamins, are potentially harmful. For
children with restrictive diets, taking a daily multivitamin and 400 IU
vitamin D may be indicated, although there is no evidence to support
megadoses of vitamins. Similarly, for children with evidence of gluten
sensitivity, a trial of a gluten-­free diet may be indicated. However, cur-
rent evidence does not support this as a treatment for all children with
ASD. There is an interest in the use of cannabidiol (CBD) to treat core
autism symptoms or co-­occurring problems such as anxiety, ADHD,
Chapter 59
or sleep problems, but there is currently no evidence to support this
therapy.
When discussing CAM with a family, it is best to use open and
Fragile X Syndromes
collaborative communication, encouraging them to share their cur- Amanda E. Bennett and Marcy Schuster
rent practices and any questions. Specifically ask if they use any
herbal treatments, supplements, or other therapies, such as acu-
puncture, massage, or chiropractic treatment, and what they have Fragile X syndrome (FXS) is a genetic disorder associated with
observed since trying the treatment. Provide accurate information intellectual, learning, and behavioral symptoms and some specific
regarding potential benefit and risk for any treatment. Educate physical characteristics. In FXS an expansion of >200 CGG repeats
about “red flags” such as treatments that are marketed as a cure for on the distal long arm of chromosome Xq27.3 silences the FMR1
multiple conditions, that report no risk of side effects, or that are gene, which leads to a deficiency in fragile X mental retardation
marketed by the clinician recommending the treatment. Encourage protein (FMRP) and affects synaptic function throughout much of
families to identify a target symptom, “try one thing at a time,” and the brain. It is the most common heritable cause of intellectual dis-
monitor response carefully. ability and has a prevalence rate of approximately 1 in 4,000 males
and 1 in 7,000 females. Like many X-­linked disorders, males with
Transition fragile X tend to present with more features and more significant
Navigating a successful transition to adult care is a key role for the impairments than females.
pediatric provider. This process should ideally start as early as age On average, unaffected individuals have 30 CGG repeats in the
12-­13 years. Parents are faced with a complex and disconnected sys- untranslated region of the FMR1 gene. Those with 55-­200 repeats are
tem of diverse agencies that they need to navigate. Use of structured-­ described as having the premutation. Females with the premutation are
visit templates and care coordinators can help ensure that families at increased risk of expansion of the number of CGG repeats causing
and their youth with ASD are able to make appropriate decisions FXS in their children (Table 59.1). When males with the premutation
about secondary and postsecondary educational programming, alleles pass them to daughters, they typically remain as premutation
vocational training, guardianship, finances, housing, and medical alleles. Those with premutation alleles may also have clinical manifes-
care. High school educational programming should include indi- tations (Tables 59.2 and 59.3).
vidualized and meaningful vocational training, as well as instruc- Fragile XE syndrome (FRAXE) resembles FXS and manifests
tion regarding sexuality, relationships, safety—particularly internet within a variable spectrum of intellectual and learning disabilities.
safety and abuse prevention—finances, travel training, and general The involved gene (AFF2) results in an expansion of CCG trinucleo-
self-­advocacy. More than half of young adults with ASD remain tide repeats and is inherited as an X-­linked disorder. Symptoms also
unemployed and unenrolled in higher education 2 years after high include aggressive behaviors, agitation, autistic behaviors, clumsi-
school graduation. Individuals with ASD who are of average cogni- ness, and delayed speech and language development. This form of
tive intellectual functioning will need help accessing supports for FXS will not usually be detected with standard fragile X testing.
college or postsecondary skills training and may benefit from refer-
ral to their state vocational rehabilitative services and personal life EVALUATION AND DIAGNOSIS
coaches or counselors. Families who have adult children with more The phenotype of FXS early in life can be nonspecific with symp-
significant cognitive disability need information about the range toms such as developmental delay, including motor and language
of adult disability services; how to apply for supplemental security delays, and autistic-­like behaviors, such as repetitive motor man-
income (SSI); and the process for considering guardianship, medi- nerisms, sensory sensitivities, and deficits in eye contact. Mani-
cal and financial conservatorship, or supported decision making for festations in early to middle childhood often include problems
their adult child. These decisions are complex and must be indi- with learning, attention-­deficit/hyperactivity disorder (ADHD),
vidualized for the adult with ASD and the family. anxiety, and aggressive behaviors. The physical features become
more pronounced during or after puberty and include macro-­
OUTCOME orchidism, hyperextensible finger joints, and characteristic facial
ASD is a lifelong condition. Although a minority of individuals no features, including a long face, large ears, and a prominent square
longer meet criteria for the diagnosis, most will make progress but jaw (Fig. 59.1). Females affected with FXS show varying degrees
continue to have some impairment in social, behavioral, learning, of intellectual disability and/or learning disabilities, and they may
language, or emotional functioning as adults. Adult outcome stud- present with symptoms of ADHD and anxiety as well.
ies are sobering, indicating that many adults with ASD are socially Children with FXS are at increased risk for ophthalmologic, feed-
isolated, lack gainful employment or independent living, and have ing, and orthopedic problems, as well as recurrent otitis media in
higher rates of depression and anxiety. It is not clear if these data early childhood. Females are at increased risk for precocious puberty.

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384 Part IV u Learning and Developmental Disorders

Adolescents should be monitored for seizures and heart murmurs, and males over age 50 years. Females are less commonly affected and
adults with FXS are at increased risk for mitral valve prolapse. Adults tend to have mild disease. Symptoms include an intention tremor
are also at risk for intention tremor and ataxia and premature meno- followed by ataxia that may manifest as needing support when
pause, which can also occur in those with the premutation. Table 59.3 walking or with a wide-­based gait. Females with premutation tri-
includes phenotypic features, clinical signs, and their typical age of ple repeat expansions are at risk for developing fragile X–associ-
onset. ated premature ovarian insufficiency (FXPOI). Women with this
condition undergo menopause approximately 5 years earlier than
women without the condition, but symptoms are variable, with the
Family History and Premutation Carriers most severely affected experiencing irregular or absent menstrual
Collecting a detailed family history can help identify potential risk periods before age 40 and often infertility. A variety of neuropsychi-
factors for FXS. Individuals with premutation triplet repeat expan- atric symptoms, including anxiety, ADHD, social deficits, or autism
sions have been found to have a variety of clinical manifestations. spectrum disorder (ASD), have also been associated with the pre-
Fragile X–associated tremor/ataxia syndrome (FXTAS) is a pro- mutation. Asking about family members for a history of develop-
gressive neurodegenerative disorder that most commonly affects mental, behavioral, or learning problems or adult family members
with early menopause, fertility challenges, or adult-­onset neuro-
logic problems may help to identify risk for a positive fragile X test
in a child with developmental or behavioral concerns. Asymptom-
atic siblings or other family members may benefit from testing to
determine premutation status, which can also be associated with the
Table 59.1   Risk of Expansion of a Premutation to a symptoms noted earlier. See Table 59.3 for additional information
Full Mutation in Male Offspring Based on about clinical symptoms in premutation carriers.
Maternal Number of CGG Triplet Repeats
MATERNAL CGG TRIPLET RISK FOR EXPANSION OF Diagnostic Testing
REPEAT NUMBER PREMUTATION TO FULL MUTATION A diagnosis of FXS is possible through PCR and Southern blot
59-­69 37% analysis of a patient’s blood. Positive DNA testing shows an expan-
sion of >200 trinucleotide CGG repeats inside an area of the FMR1
70-­79 65%
gene on the X chromosome. Diagnostic testing that reports meth-
80-­89 70% ylation status of the gene region is preferred because methylation
status is inversely correlated with cognitive functioning. Because
90-­99 95%
the physical features of FXS are not always apparent in early child-
100 or more 100% hood, diagnostic testing is recommended for any child who pres-
ents with global developmental delay, intellectual disability, or ASD
CGG triplet repeat, Cytosine-­guanine-­guanine trinucleotide repeat.
From Fragile X Syndrome. Clinical Overview. Elsevier Point of Care. https://www.clinica (see Chapters 56 and 58). Any positive test for fragile X should
lkey.com/#!/content/clinical_overview/67-­s2.0-­c9588237-­6031-­4f21-­b273-­34970f89cd2e. include genetic counseling to inform of inheritance risk, pheno-
Updated June 14, 2021. Copyright Elsevier. All rights reserved; with data from typic variability, and medical conditions associated with FXS and
Hersh JH et al. Health supervision for children with fragile X syndrome. Pediatrics.
premutation status. Specific gene (AFF2) testing for FRAXE should
2011;127(5):994–1006, Table 1; and Saul RA et al. FMR1-­related disorders. In: Pagon RA
et al, eds. GeneReviews [internet]. University of Washington; 1993–2018. be considered if CGG repeat testing is negative.

Table 59.2   Phenotypic and Genetic Effect of Number of CGG Repeats

VARIATION TYPE CGG ALLELE SIZE TYPICAL PHENOTYPE GENETIC CONSEQUENCES
Full mutation More than 200 repeats Males are affected with fragile X syndrome Repeat expansion and methylation typically
About 50% of females are affected with result in partial or complete silencing of FMR1
fragile X syndrome Females usually benefit from having two X
chromosomes, because usually one of them is
unaffected (i.e., no expanded CGG repeats) and
X-­inactivation does not silence all copies of it
Premutation About 55-­200 repeats Patients typically have normal intellect, FMRP expression is usually not significantly
and some may have mild manifestations impaired; however, larger mutations may have
associated with fragile X syndrome lowered expression
Carriers may be at increased risk for fragile Alleles are at risk for CGG expansion during
X–associated tremor ataxia syndrome and maternal gametogenesis, and offspring are at
FMR1-­related primary ovarian insufficiency risk for fragile X syndrome
Intermediate (gray About 45-­54 repeats Patient does not have fragile X syndrome A minority of intermediate/gray zone alleles may
zone) caused by CGG repeats have minor instability; however, expansion of
CGG repeats is unlikely, and if it occurs, it will
not reach full mutation number within a single
generation
Normal About 5-­44 repeats Patient does not have fragile X syndrome No meiotic or mitotic instability is present;
caused by CGG repeats alleles are transmitted without any change in
repeat number
FMR1 gene, FMRP translational regulator 1; FMRP, fragile X mental retardation protein.
From Fragile X Syndrome. Clinical Overview. Elsevier Point of Care. https://www.clinicalkey.com/#!/content/clinical_overview/67-­s2.0-­c9588237-­6031-­4f21-­b273-­34970f89cd2e.
Updated June 14, 2021. Copyright Elsevier. All rights reserved; with data from Hersh JH et al. Health supervision for children with fragile X syndrome. Pediatrics. 2011;127(5):994–1006,
Table 1; and Saul RA et al. FMR1-­related disorders. In: Pagon RA et al, eds. GeneReviews [internet]. University of Washington; 1993–2018.

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 Chapter 59 u Fragile X Syndromes 385

Table 59.3   Clinical Features of Fragile X Syndrome and

MANAGEMENT OF FRAGILE X SYNDROME
Management of FXS in children often requires a multidisciplinary
Premutation Carriers
approach focused on monitoring for and managing developmental
COGNITIVE, BEHAVIORAL, AND AGE REPORTED and/or behavioral symptoms. In addition to health supervision visits
PHYSICAL CHARACTERISTICS with a primary care clinician, many children with FXS benefit from
FULL MUTATION FRAGILE X SYNDROME (>200 CGG REPEATS)
ongoing care with a medical professional with experience or knowl-
edge of FXS. Families will also benefit from accessing educational and
Hypotonia Infancy behavioral health resources in the community.
Reflux Infancy
Educational
Poor suck Infancy Many individuals with FXS will require educational support to meet
Developmental delay/intellectual disability Early childhood their needs starting from a young age. Early intervention services,
(96% males, 64% females) including speech therapy, occupational therapy, physical therapy,
Autism (46% males, 16% females) Early childhood and special instruction, are often vital components of address-
ing developmental delays. As a child ages and ongoing assessment
Attention problems (84% males, 67% Early childhood occurs, special education support through an individualized edu-
females) cation plan (IEP) may be warranted (See Chapter 49). There are
Hyperactivity (66% males, 30% females) Early childhood interventions shown to be specific to the learning needs of indi-
viduals with FXS. Biologic males typically demonstrate strengths in
Anxiety (70% males, 56% females) Early childhood
receptive language, verbal labeling, simultaneous processing, imi-
Aggression (38% males, 14% females) Early childhood tation, and daily living activities. Biologic females typically dem-
Self-­injurious behaviors (41% males, 10% Early childhood onstrate areas of strength in vocabulary, comprehension, reading,
females) writing, spelling, and short-­term visual memory. These advantages
should be explored when educational interventions are being devel-
Depression (12% males, 22% females) Early childhood oped. Areas often in need of interventions for individuals with FXS
Recurrent otitis media (>60%) Early childhood include improving complex problem solving, maintaining atten-
Seizures (18% males, 7% females) Early childhood
tion, improving impulse control, understanding spatial relation-
ships, and math concepts.
Strabismus (20%) Early childhood Environmental modifications and adaptive technologies can be
Sleep disturbances Early childhood an asset for an individual with FXS. This can include a modified
keyboard and/or mouse and touch-­screen computer options inte-
Flat feet Early childhood grated into classroom lessons. A quiet environment with minimal
Low muscle tone Early childhood distractions can help improve focus on tasks. Small group and one-­
on-­one instruction for teaching new tasks can minimize anxiety and
Hyperextensible joints Early childhood
improve generalization of skills to the larger classroom. Teaching
Large prominent ears Early/middle childhood students to request breaks when feeling overwhelmed can minimize
Elongated face Early/middle childhood overall frustration. Visual schedules, manipulatives, clutter-­ f ree
areas, and social stories are all interventions to improve compliance
Large testes Adolescence and learning.
Obesity (30%) Adolescence
Mitral valve prolapse Adulthood Behavioral
Cognitive decline/parkinsonism (17%) Adulthood Individuals with FXS can present with a variety of cognitive and
Perseveration Adulthood
behavioral challenges. ASD is diagnosed in between 50% and 60%
of individuals with FXS. ASD is characterized by deficits in com-
PREMUTATION CARRIERS (55-­200 CGG REPEATS) munication and social skills along with restricted interests and/or
Attention problems Early childhood repetitive behaviors that interfere with one’s daily life (see Chapter
Autism spectrum disorder Early childhood 58). Individuals with FXS can struggle with making eye contact,
engaging in conversations, and expressing wants and needs. Often
Seizures Early childhood individuals with FXS want social contact but may avoid it due to
Anxiety Adolescence anxiety. Hyperarousal is a common behavioral symptom, particu-
larly in social situations where eye contact is expected, suggesting
Depression Adulthood
the presence of significant sensory aversions. Behavioral interven-
Hypertension Adulthood tions that include skill development and anxiety management can
Sleep disturbances Adulthood be helpful in addressing social skills deficits. Other sensory-­aversive
behaviors can be related to auditory, visual, or tactile stimuli. Tan-
Migraine Adulthood trums, and occasionally aggression, can emerge when children with
Fibromyalgia Adulthood FXS are overstimulated.
Sensory-­seeking behaviors can also be present in individuals with
Hypothyroidism Adulthood FXS. These may include repetitive movements, narrowed interests,
Fragile X–associated primary ovarian Adulthood rigid routines, and atypical sensory exploration. Behaviors such as
insufficiency (FXPOI) (∼20%) rocking, pacing, and jumping could occur to obtain sensory input.
Fragile X–associated tremor ataxia syndrome Later adulthood Individuals with FXS can become extremely anxious if a routine is
(FXTAS) (40% males, 16% females) changed or if a preferred activity is interrupted. Teaching coping strat-
egies along with the recognition of triggers for anxiety can be helpful as
Data from National Center on Birth Defects and Developmental Disabilities, Centers a behavior management strategy.
for Disease Control and Prevention. Data and Statistics on Fragile X Syndrome, 2021;
Hagerman RJ, Berry-­Kravis E, Hazlett HC, et al. Fragile X syndrome. Nat Rev Dis Individuals with FXS can present with deficits in attention and
Primers. 2017;3:17065; Hersh JH, Saul RA; Committee on Genetics. Health supervision focus, impulsivity, and/or hyperactivity, particularly during child-
for children with fragile X syndrome. Pediatrics. 2011;127(5):994–1006; Wheeler A, Raspa hood. This can lead to a diagnosis of ADHD (see Chapter 50).
M, Hagerman R, Mailick M, Riley C. Implications of the FMR1 Premutation for Children, These deficits can affect learning in school and require specialized
Adolescents, Adults, and Their Families. Pediatrics. 2017;139(Suppl 3):S172–S182.

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386 Part IV u Learning and Developmental Disorders

A B C
Fig. 59.1 Boys with fragile X syndrome. Note the long faces, prominent jaws, and large ears and the similar characteristics of children from different
ethnic groups: European (A), Asian (B), and Latin American (C). (From Jorde, LB, Carey JC, Bamshad MJ. Medical Genetics, 6th ed. Philadelphia:
Elsevier; 2020: Fig. 5.20.)

instruction or classroom accommodations to help improve focus problems, such as strabismus or astigmatism, and monitored for
and participation. symptoms related to connective tissue problems, such as hypermo-
Individuals with FXS can present with aggressive behavior directed bile joints or inguinal hernias. Seizures are more prevalent in chil-
toward themselves and toward others. These behaviors are seen in dren with FXS; symptoms concerning for any type of seizure should
approximately 50% of males with FXS and tend to increase with age. be investigated with electroencephalogram (EEG) when the child
Individuals who exhibit ongoing aggression also typically present with is both awake and asleep. Although risk for mitral valve prolapse is
more significant intellectual impairment, communication delays, and not typically increased until adulthood, examination for murmurs,
anxiety. Aggression can put a strain on caregivers or lead to injury and clicks, or changes in blood pressure should be performed regularly.
therefore often emerges as a primary focus of treatment. Sleep disturbances commonly reported among children with FXS
Behavior management techniques vary depending on a child’s needs. include delayed sleep onset, frequent night waking, and occasion-
If an ASD diagnosis is present, applied behavioral analysis (ABA) pro- ally obstructive sleep apnea. Screening for sleep concerns should be
grams are often integrated into treatment. ABA promotes multiple done at every visit, and parents should be counseled on behavioral
areas of development, including language, emotion, and cognition. strategies to address sleep onset and waking challenges (see Chapter
ABA focuses on tracking specific behaviors through observation and 31). Concerns for apnea or snoring may require further evaluation
data collection, learning their antecedents (the event or environment by a sleep specialist or with polysomnography. Medications to help
before the behavior occurred), and managing their consequences (the address sleep concerns may include melatonin or clonidine, neither
response others have after the behavior occurs) through a structured of which is currently approved by the Food and Drug Administra-
approach. Most interventions for unwanted behaviors (e.g., aggression tion (FDA) for use in children with FXS.
or self-­injury) aim to change the antecedents to reduce the likelihood There are currently no approved treatments for the core symp-
of the behavior occurring or to change the consequence in order to toms of FXS, but many individuals will benefit from medication to
make the behavior less rewarding for the individual. Interventions that address some of the commonly co-­occurring behavioral symptoms
aim to increase a desired behavior (e.g., complying with an instruction associated with absence of FMRP. If behavioral strategies are not
or toilet training) will incorporate environmental changes to remind sufficient to address hyperactivity or impulsivity, a young child (<5
and encourage the behavior and identify rewarding consequences that years) may benefit from a trial of an α2-­adrenergic agonist, such
can be delivered after the behavior has occurred. ABA interventions as clonidine or guanfacine. School-­aged children with FXS often
delivered during daily living activities, community participation, and show improvements in hyperactivity, impulsivity, and/or attention
family interactions allow for optimal skill development. Special educa- problems when treated with a stimulant, but side effects such as
tion programs often include similar behavior management techniques irritability or aggression may occur. Selective serotonin reuptake
throughout the early childhood for individuals with FXS. inhibitors (SSRIs) can be safe and effective in reducing anxiety,
obsessive-­ compulsive symptoms, and sometimes aggression in
Medical young children with FXS; one trial of sertraline in young children
In addition to educational and behavioral management, many chil- with FXS demonstrated improvements in visual reception and fine
dren with FXS may present with certain medical conditions and motor coordination in 2-­to 6-­year-­olds. Additional analyses dem-
may require additional monitoring or care by a specialist (see Table onstrated improvements in expressive language skills for children
59.3). Monitoring in infancy and early childhood should empha- with FXS and ASD. Treatment with an atypical antipsychotic, such
size assessment for orthopedic, growth, and/or feeding concerns. as risperidone or aripiprazole, may be needed in cases of severe
Because young children with FXS are more susceptible to otitis anxiety, aggression, or mood instability that have not responded to
media and may lack communication skills to convey discomfort, other medications.
a full physical examination, including ear examination, is recom- Neurobiologic studies of FXS have identified overactivation
mended if a child presents with acute behavior changes. Young of brain glutamate pathways and underactivation of gamma-­
children should also be routinely screened for ophthalmologic aminobutyric acid (GABA) pathways leading to studies of

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 Chapter 59 u Fragile X Syndromes 387

medications targeting these pathways in the hopes that they would and adolescence should also include discussion of adult transition
improve cognitive outcomes. Although some studies in animal issues, including vocational training, accessing state-­specific adult
models were encouraging, human trials have yet to demonstrate disability services, and transition to adult medical care.
consistent benefits. Some clinical trials are ongoing.
In addition to continued monitoring for cardiac, seizure, sleep, Visit Elsevier eBooks+ at eBooks.Health.Elsevier.com for Bibliography.
and behavioral symptoms, health supervision in late childhood

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