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Learning and PART

Developmental Disorders IV
been identified that are associated with reading disorders, including
Chapter 48 the DYX2 locus on chromosome 6p22 and the DYX3 locus on 2p12.
Neuroimaging studies have confirmed links between gene variations

Neurodevelopmental and variations in cortical thickness in areas of the brain known to

be associated with learning and academic performance, such as the
temporal regions. Chromosomal abnormalities can lead to unique patterns
and Executive Function of dysfunction, such as visual-spatial deficits in girls diagnosed with
Turner syndrome (see Chapter 98.4) or executive and language deficits in
and Dysfunction children with fragile X syndrome (Chapter 98.5). Chromosome 22q11.2
deletion syndrome (velocardiofacial-DiGeorge syndrome; Chapter 98.3)
has been associated with predictable patterns of neurodevelopmental
Desmond P. Kelly and Mindo J. Natale and executive dysfunction that can be progressive, including a higher
prevalence of intellectual disability, as well as deficits in visual-spatial
processing, attention, working memory, verbal learning, arithmetic,
TERMINOLOGY AND EPIDEMIOLOGY and language.
A neurodevelopmental function is a basic brain process needed for Genetic vulnerabilities may be further influenced by perinatal
learning and productivity. Executive function (EF) is an umbrella term factors, including very low birthweight, severe intrauterine growth
used to describe specific neurocognitive processes involved in the restriction, perinatal hypoxic-ischemic encephalopathy, and prenatal
regulating, guiding, organizing, and monitoring of thoughts and actions exposure to substances such as alcohol and drugs. Increased risk of
to achieve a specific goal. Processes considered to be “executive” in neurodevelopmental and executive dysfunction has also been associated
nature include inhibition/impulse control, cognitive/mental flexibility, with environmental toxins, including lead (see Chapter 739); drugs such
emotional control, initiation skills, planning, organization, working as cocaine; infections such as meningitis, HIV, and Zika; and brain injury
memory, and self-monitoring. Neurodevelopmental and/or executive secondary to intraventricular hemorrhage, periventricular leukomalacia,
dysfunctions reflect any disruptions or weaknesses in these processes, or head trauma. The academic effects of concussion in children and
which may result from neuroanatomic or psychophysiologic malfunction- adolescents, although usually temporary, have been well character-
ing. Neurodevelopmental variation refers to differences in neurode- ized, including impaired concentration and slowed processing speed.
velopmental functioning. Wide variations in these functions exist within Repeated injuries have a much higher likelihood of long-term negative
and between individuals. These differences can change over time and neurocognitive effects.
need not represent pathology or abnormality. Early psychological trauma may result in both structural and
Neurodevelopmental and/or executive dysfunction places a child at neurochemical changes in the developing brain, which may contribute
risk for developmental, cognitive, emotional, behavioral, psychosocial, to neurodevelopmental and executive dysfunction. Findings suggest
and adaptive challenges. Preschool-age children with neurodevelopmental that the effects of exposure to trauma or abuse early in the developmental
or executive dysfunction may manifest delays in developmental domains course can induce disruption of the brain’s regulatory system and may
such as language, motor, self-help, or social-emotional development influence right hemisphere function with associated risk for problems
and self-regulation. For the school-age child, an area of particular focus with information processing, memory, focus, and self-regulation.
is academic skill development. The Diagnostic and Statistical Manual Environmental and sociocultural deprivation can lead to, or potentiate,
of Mental Disorder, Fifth Edition (DSM-5) classifies academic disorder neurodevelopmental and executive dysfunction, and numerous studies
within the group of neurodevelopmental disorders as specific learning have indicated that parent/caregiver executive functioning impacts the
disorder (SLD), with broadened diagnostic criteria recognizing impair- development of EFs in offspring.
ments in reading, written expression, and mathematics. In the International With regard to pathogenesis, investigations of neuroanatomic
Classification of Diseases, Tenth Edition (ICD-10), neurodevelopmental substrates have yielded important information about the underlying
disorders include specific developmental disorders of scholastic skills mechanisms in neurodevelopmental and executive dysfunction. Multiple
with specific reading disorder, mathematics disorder, and disorder of neurobiologic investigations have identified differences in the left
written expression. Dyslexia is categorized separately in ICD-10 under parietotemporal and left occipitotemporal brain regions of individuals
“Symptoms and Signs Not Elsewhere Classified.” Frontal lobe and with dyslexia compared to those without reading difficulties (see Chapter
executive function deficit is also included in this category. Disorders 50). Studies have also described the neural circuitry, primarily in the
of executive function have traditionally been viewed as a component parietal cortex, underlying mathematical competencies such as the
of attention-deficit/hyperactivity disorder (ADHD), which is also processing of numerical magnitude and mental arithmetic. The associa-
classified in DSM-5 as a neurodevelopmental disorder. tions between executive dysfunction and the prefrontal/frontal cortex
There are no prevalence estimates specifically for neurodevelopmental have been well established, and insults to the frontal lobe regions often
dysfunction, but overall estimates for learning disorders range from result in dysfunction of executive abilities (e.g., poor inhibitory control).
3–10% with a similar range reported for ADHD. These disorders fre- Although the prefrontal/frontal cortex may be the primary control region
quently co-occur. The range in prevalence is likely related to differences for EFs, there is considerable interconnectivity between the brain’s frontal
in definitions and criteria used for classification and diagnosis, as well regions and other areas, such as arousal systems (reticular activating
as differences in methods of assessment. system), motivational and emotional systems (limbic system), cortical
association systems (posterior/anterior; left/right hemispheres), and
ETIOLOGY AND PATHOGENESIS input/output systems (frontal motor/posterior sensory areas).
Neurodevelopmental and executive dysfunction may result from a broad
range of etiologic factors, including genetic, medical, psychological, CORE NEURODEVELOPMENTAL FUNCTIONS
environmental, and sociocultural influences. The neurodevelopmental processes that are critical to a child’s successful
There is a high degree of heritability reported in learning and attention functioning may best be understood as falling within core neurode-
disorders, with estimates ranging from 45–80%. Specific genes have velopmental domains. Notwithstanding such classification of domains,
253
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Chapter 48 ◆ Neurodevelopmental and Executive Function and Dysfunction 253.e1

Keywords
neurodevelopmental function
executive function
academic disorder
learning disorder
attention-deficit/hyperactivity disorder
reading disorder
working memory
neurodevelopmental and executive dysfunction
neurodevelopmental variation
504 plan
individualized educational plan

the clinical distinctions often made regarding “cognitive” processes (e.g., The basic components of language include phonology (ability to
intelligence, EF, attention, language, memory) are relatively artificial process and integrate the individual sounds in words), semantics
because these brain functions are highly integrated. (understanding the meaning of words), syntax (mastery of word order
and grammatical rules), discourse (processing and producing paragraphs
Sensory and Motor Function and passages), metalinguistics (ability to think about and analyze how
Sensory development (e.g., auditory, visual, tactile, proprioceptive) language works and draw inferences), and pragmatics (social understand-
begins well before birth. This neurodevelopmental process is crucial in ing and application of language). Children who evidence higher-level
helping children experience, understand, and manipulate their environ- expressive language impediments have trouble formulating sentences,
ments. Sensory development progresses in association with environmental using grammar acceptably, and organizing spoken (and possibly written)
exposure and with the development of other cognitive processes, such narratives.
as motor development. Through sensory experiences, children’s brains To one degree or another, all academic skills are taught largely through
mature as new neuronal pathways are created and existing pathways language, and thus it is not surprising that children who experience
are strengthened. language dysfunction often experience problems with academic per-
There are three distinct, yet related, forms of neuromotor ability: fine formance. In fact, some studies suggest that up to 80% of children who
motor, graphomotor, and gross motor coordination. Fine motor function present with a specific learning disorder also experience language-based
reflects the ability to control the muscles and bones to produce small, weaknesses. Additionally, the role of language in executive functioning
exact movements. Deficits in fine motor function can disrupt the ability cannot be understated, since language serves to guide cognition and
to communicate in written form, to excel in artistic and crafts activities, behavior.
and can interfere with learning a musical instrument or mastering a
computer keyboard. The term dyspraxia relates to difficulty in developing Visual-Spatial/Visual-Perceptual Function
an ideomotor plan and activating coordinated and integrated visual-motor Important structures involved in the development and function of the
actions to complete a task or solve a motor problem, such as assembling visual system include the retina, optic cells (e.g., rods and cones), the
a model. Graphomotor function refers to the specific motor aspects optic chiasm, the optic nerves, the brainstem (control of automatic
of written output. Several subtypes of graphomotor dysfunction can responses, e.g., pupil dilation), the thalamus (e.g., lateral geniculate
significantly impede writing. Children who harbor weaknesses of nucleus for form, motion, color), and the primary (visual space and
visualization during writing have trouble picturing the configurations orientation) and secondary (color perception) visual processing regions
of letters and words as they write (orthographics), with poorly legible located in and around the occipital lobe. Other brain areas, considered
written output with inconsistent spacing between words. Others have to be outside of the primary visual system, are also important to visual
weaknesses in orthographic memory and may labor over individual function, helping to process what (temporal lobe) is seen and where it is
letters and prefer printing (manuscript) to cursive writing. Some exhibit located in space (parietal lobe). It is now well documented that the left
signs of finger agnosia and have trouble localizing their fingers while and right cerebral hemispheres interact considerably in visual processes,
they write, needing to keep their eyes very close to the page and applying with each hemisphere possessing more specialized functions, including
excessive pressure to the pencil. Others struggle producing the highly left hemisphere processing of details, patterns, and linear information
coordinated motor sequences needed for writing, a phenomenon also and right hemisphere processing of the gestalt and overall form.
described as dyspraxic dysgraphia. It is important to emphasize that Critical aspects of visual processing development in the child include
a child may show excellent fine motor dexterity (as revealed in mechanical appreciation of spatial relations (ability to perceive objects accurately
or artistic domains) but very poor graphomotor fluency (with labored in space in relation to other objects), visual discrimination (ability to
or poorly legible writing). differentiate and identify objects based on their individual attributes,
Gross motor function refers to control of large muscles. Children e.g., size, shape, color, form, position), and visual closure (ability to
with gross motor incoordination often have problems in processing recognize or identify an object even when the entire object cannot be
“outer spatial” information to guide gross motor actions. Affected seen). Visual-spatial processing dysfunctions are rarely the cause of
children may be inept at catching or throwing a ball because they reading disorders, but some investigations have established that deficits
cannot form accurate judgments about trajectories in space. Others in orthographic coding (visual-spatial analysis of character-based systems)
demonstrate diminished body position sense. They do not efficiently can contribute to reading disorders. Spelling and writing can emerge
receive or interpret proprioceptive and kinesthetic feedback from as a weakness because children with visual processing problems usually
peripheral joints and muscles. They are likely to evidence difficulties have trouble with the precise visual configurations of words. In mathemat-
when activities demand balance and ongoing tracking of body move- ics, these children often have difficulty with visual-spatial orientation,
ment. Others are unable to satisfy the motor praxis demands of certain with resultant difficulty aligning digits in columns when performing
gross motor activities. It may be difficult for them to recall or plan calculations and difficulty managing geometric material. In the social
complex motor procedures such as those needed for dancing, gymnastics, realm, intact visual processing allows a child to make use of visual or
or swimming. physical cues when communicating and interpreting the paralinguistic
aspects of language. Secure visual functions are also necessary to process
Language proprioceptive and kinesthetic feedback and to coordinate movements
Language is one of the most critical and complex cognitive functions during physical activities.
and can be broadly divided into receptive (auditory comprehension/
understanding) and expressive (speech and language production and/ Intellectual Function
or communication) functions. Children who primarily experience A useful definition of intellectual function is the capacity to think in
receptive language problems may have difficulty understanding verbal the abstract, reason, problem-solve, and comprehend. The concept of
information, following instructions and explanations, and interpret- intelligence has had many definitions and theoretical models, including
ing what they hear. Expressive language weaknesses can result from Spearman’s unitary concept of “the g-factor,” the “verbal and nonverbal”
problems with speech production and/or problems with higher-level theories (e.g., Binet, Thorndike), the 2-factor theory from Catell (crystal-
language development. Speech production difficulties include oromo- lized vs fluid intelligence), Luria’s simultaneous and successive processing
tor problems affecting articulation, verbal fluency, and naming. Some model, and more recent models that view intelligence as a global construct
children have trouble with sound sequencing within words. Others find composed of more-specific cognitive functions (e.g., auditory and
it difficult to regulate the rhythm or prosody of their verbal output. visual-perceptual processing, spatial abilities, processing speed, working
Their speech may be dysfluent, hesitant, and inappropriate in tone. memory).
Problems with word retrieval can result in difficulty finding exact words The expression of intellect is mediated by many factors, including
when needed (as in a class discussion) or substituting definitions for language development, sensorimotor abilities, genetics, heredity, environ-
words (circumlocution). ment, and neurodevelopmental function. When an individual’s measured

intelligence is >2 standard deviations below the mean (a standard score Social Cognition
of <70 on most IQ tests) and accompanied by significant weaknesses The development of effective social skills is heavily dependent on secure
in adaptive skills, the diagnosis of intellectual disability may be war- social cognition, which consists of mental processes that allow an
ranted (see Chapter 53). individual to understand and interact with the social environment.
Functionally, some common characteristics distinguish children with Although some evidence shows that social cognition exists as a discrete
deficient intellectual functioning from those with average or above- area of neurodevelopmental function, multiple cognitive processes are
average abilities. Typically, those at the lowest end of the spectrum (e.g., involved with social cognition. These include the ability to recognize,
profound or severe intellectual deficiencies) are incapable of independent interpret, and make sense of the thoughts, communications (verbal
function and require a highly structured environment with constant and nonverbal), and actions of others; the ability to understand that
aid and supervision. At the other end of the spectrum are those with others’ perceptions, perspectives, and intentions might differ from one’s
unusually well-developed intellect (“gifted”). Although this level of own (commonly referred to as “theory of mind”); the ability to use
intellectual functioning offers many opportunities, it can also be associ- language to communicate with others socially (pragmatic language);
ated with functional challenges related to socialization and learning and the ability to make inferences about others and the environment
and communication style. Individuals whose intellect falls in the based on contextual information. It can also be argued that social
below-average range (sometimes referred to as the “borderline” or “slow cognition involves processes associated with memory and EFs such as
learner” range) tend to experience greater difficulty processing and flexibility.
managing information that is abstract, making connections between
concepts and ideas, and generalizing information (e.g., may be able to Executive Function
comprehend a concept in one setting but are unable to carry it over The development of EFs begins very early on in the developmental
and apply it in different situation). In general, these individuals tend course (early indications of inhibitory control and even working memory
to do better when information is presented in more concrete and explicit have been found in infancy), matures significantly during the preschool
terms, and when working with rote information (e.g., memorizing years, and continues to develop through adolescence and well into
specific material). Stronger intellect has been associated with better- adulthood. Some studies suggest that secure EF may be more important
developed concept formation, critical thinking, problem solving, than intellectual ability for academic success and have revealed that a
understanding and formulation of rules, brainstorming and creativity, child’s ability to delay gratification early in life predicts competency,
and metacognition (ability to “think about thinking”). attention, self-regulation, frustration tolerance, aptitude, physical and
mental health, and even substance dependency in adolescence and
Memory adulthood. Conversely, deficits in other areas of neurodevelopment,
Memory is a term used to describe the cognitive mechanism by which such as language development, impact EF.
information is acquired, retained, and recalled. Structurally, some major Attention is far from a unitary, independent, or specific brain function.
brain areas involved in memory processing include the hippocampus, This may be best illustrated through the phenotype associated with
fornix, temporal lobes, and cerebellum, with connections in and between ADHD) (see Chapter 49). Disordered attention can result from faulty
most brain regions. The memory system can be partitioned into sub- mechanisms in and across subdomains of attention. These subdomains
systems based on processing sequences; the form, time span, and method include selective attention (ability to focus attention on a particular
of recall; whether memories are conscious or unconsciously recalled; stimulus and to discriminate relevant from irrelevant information),
and the types of memory impairments that can occur. divided attention (ability to orient to more than one stimulus at a given
Once information has been identified (through auditory, visual, tactile, time), sustained attention (ability to maintain one’s focus), and alternating
and/or other sensory processes), it needs to be encoded and registered, attention (capacity to shift focus between stimuli).
a mental process that constructs a representation of the information Attention problems in children can manifest at any point, from
into the memory system. The period (typically seconds) during which arousal through output. Children with diminished alertness and
this information is being held and/or manipulated for registration, and arousal can exhibit signs of mental fatigue in a classroom or when
ultimately encoded, consolidated, and retained, is referred to as working engaged in any activity requiring sustained focus. They are apt to
memory. Other descriptors include short-term memory and immediate have difficulty allocating and sustaining their concentration, and their
memory. Consolidation and storage represent the process by which efforts may be erratic and unpredictable, with extreme performance
information in short-term memory is transferred into long-term inconsistency. Weaknesses of determining saliency often result in focusing
memory. Information in long-term memory can be available for hours on the wrong stimuli, at home, in school, and socially, and missing
or as long as a life span. Long-term memories are generally thought to important information. Distractibility can take the form of listening
be housed, in whole or in part, in specific brain regions (e.g., cortex, to extraneous noises instead of a teacher, staring out the window, or
cerebellum). Ordinarily, consolidation in long-term memory is accom- constantly thinking about the future. Attention dysfunction can affect
plished in 1 or more of 4 ways: pairing 2 bits of information (e.g., a the output of work, behavior, and social activity. It is important to
group of letters and the English sound it represents); storing procedures appreciate that most children with attentional dysfunction also harbor
(consolidating new skills, e.g., the steps in solving mathematics problems); other forms of neurodevelopmental dysfunction that can be associated
classifying data in categories (filing all insects together in memory); with academic disorders (with some estimates suggesting up to 60%
and linking new information to established rules, patterns, or systems comorbidity).
of organization (rule-based learning). Inhibitory control (IC) can be described as one’s ability to restrain,
Once information finds its way into long-term memory, it must be resist, and not act (cognitively or behaviorally/emotionally) on a thought.
accessed. In general, information can be retrieved spontaneously (a IC may also be seen as one’s ability to stop thoughts or ongoing actions.
process known as free recall) or with the aid of cues (cued or recog- Deficits in this behavioral/impulse regulation mechanism are a core
nition recall). Some other common descriptors of memory include feature of the combined or hyperactive impulsive presentation of ADHD
anterograde memory (capacity to learn from a single point in time and have a significant adverse impact on a child’s overall functioning.
forward), retrograde memory (capacity to recall information that was In everyday settings, children with weak IC may exhibit difficulties with
already learned), and explicit memory (conscious awareness of recall), self-control and self-monitoring of their behavior and output (e.g.,
implicit memory (subconscious recall: no awareness that the memory impulsivity), may not recognize their own errors or mistakes, and often
system is being activated), procedural memory (memory for how to act prematurely and without consideration of the potential consequences
do things), and prospective memory or remembering to remember. of their actions. In the social context, disinhibited children may interrupt
Automatization reflects the ability to instantaneously access what others and demonstrate other impulsive behaviors that often interfere
has been learned in the past with no expenditure of effort. Successful with interpersonal relationships. The indirect consequences of poor IC
students are able to automatically form letters, master mathematical facts, often lead to challenges with behavior, emotional, and academic function-
and decode words. ing and social interaction (Table 48.1).

traumatic brain injury, anoxia, effects of radiation treatment in childhood

Table 48.1 Symptom Expression of Executive cancer). More often, initiation deficits are secondary to other executive
Dysfunction problems (e.g., disorganization) or behavioral (e.g., oppositional/defiant
EXECUTIVE behaviors), developmental (e.g., autism spectrum disorder), or emotional
FUNCTION DEFICIT SYMPTOM EXPRESSION (e.g., depression, anxiety) disorders.
Planning refers to the ability to effectively generate, sequence,
Disinhibition Impulsivity/poor behavioral regulation
Interrupts and put into motion the steps and procedures necessary to realize a
“Blurts things out” specific goal. In real-world settings, children who struggle with plan-
ning are typically described by caregivers and teachers as being inept
Shifting Problems with transitioning from one task/ at independently gathering what is required to solve a problem, or
activity to another
as unable to complete more weighty assignments. Another common
Unable to adjust to unexpected change
Repeats unsuccessful problem-solving complaint is that these children exhibit poor time management skills.
approaches Organization is an ability that represents a child’s proficiency in arrang-
ing, ordering, classifying, and categorizing information. Common daily
Initiation Difficulty independently beginning tasks/ life challenges associated with organizational difficulties in childhood
activities
include problems with gathering and managing materials or items.
Lacks initiative
Difficulty developing ideas or making When children struggle with organization, indirect consequences may
decisions include becoming overwhelmed with information and being unable to
complete a task or activity. Effective organization is a vital component in
Working memory Challenges following multistep instruction learning (more specifically, in memory/retention); many studies along
(e.g., only completes 1 of 3 steps)
with clinical experience have shown that poor organization significantly
Forgetfulness
impacts how well a child recalls information. Planning and organizing
Organization and Fails to plan ahead depend on discrimination ability, which refers to the child’s ability to
planning Work is often disorganized determine what is and is not valuable when trying to problem-solve
Procrastinates and does not complete tasks or organize.
“Messy” child
Emotional control is the ability to regulate emotions in order to
Self-monitoring Fails to recognize errors and check work realize goals and direct one’s behavior, thoughts, and actions. It has
Does not appreciate impact of actions on been well established that affective/emotional states have an impact on
others many aspects of functioning. Conversely, executive function or dysfunc-
Poor self-awareness tion often contributes to modulation or affect. While emotional control
Affect control Experiences behavioral and emotional is highly interrelated with different EFs (e.g., disinhibition, self-
outbursts (e.g., tantrums) monitoring), separating it conceptually facilitates an appreciation for
Easily upset/frustrated and recognition of the often-overlooked role that a child’s emotional
Frequent mood changes state plays in cognitive and behavioral functioning. Children with weak
emotional control may exhibit explosive outbursts, poor temper/anger
control, and oversensitivity. Clearly, understanding a child’s emotional
state is vital to understanding its impact not only on executive function-
Working memory (WM) can be defined as the ability to hold, ing, but also on functioning as a whole (e.g., socially, mentally, behavior-
manipulate, and store information for short periods. This function is ally, academically).
critical to be able to complete multistep problems and more complex Any discussion involving emotional control should also recognize
instructions and tasks. In its simplest form, WM involves the interaction motivation. Motivation/effort may be defined as the reason or reasons
of short-term verbal and visual processes (e.g., memory, phonologic, one acts or behaves in a certain way. Less motivated children are less
awareness, and spatial skills) with a centralized control mechanism that likely to engage and utilize all their abilities. Such a disposition not
is responsible for coordinating all the cognitive processes involved (e.g., only interferes with application of executive skills, but also results in
temporarily suspending information in memory while working with less than optimal performance and functioning. The less success a child
it). Developmentally, WM capacity can double or triple between the feels, the less likely the child is to put forth effort and to persevere when
preschool years and adolescence. When doing math, a child with WM things become more challenging. If a child’s initial efforts are met with
dysfunction might carry a number and then forget what he intended a negative reaction, the likelihood that the child will continue putting
to do after carrying that number. WM is an equally important underlying forth adequate effort diminishes. If left unchecked, a child’s overall level
function for reading, where it enables the child to remember the begin- of functioning will likely be compromised. More importantly, the child’s
ning of a paragraph when she arrives at the end of it. In writing, WM sense of personal efficacy (e.g., self-esteem) and competence may suffer.
helps children remember what they intend to express in written form
while they are performing another task, such as placing a comma or CLINICAL MANIFESTATIONS
working on spelling a word correctly. WM also enables the linkage The symptoms and clinical manifestations of neurodevelopmental and
between new incoming information in short-term memory with prior executive dysfunction differ with age. Preschool-age children might
knowledge or skills held in longer-term memory. present with delayed language development, including problems with
Initiation refers to the ability to independently begin an activity, a articulation, vocabulary development, word finding, and rhyming.
task, or thought process (e.g., problem-solve). Children who present They often experience early challenges with learning colors, shapes,
with initiation difficulties often have trouble “getting going” or “getting letters, and numbers; the alphabet; and days of the week. Children
started.” This can be exhibited behaviorally, such that the child struggles with visual processing deficits may have difficulty learning to draw
to start on physical activities such as getting out of bed or beginning and write and have problems with art activities. These children might
chores. Cognitively, weaknesses in initiation may manifest as difficulty also have trouble discriminating between left and right. They might
coming up with ideas or generating plans. In school, children who have encounter problems recognizing letters and words. Difficulty following
poor initiation abilities may be delayed in or unable to start homework instructions, overactivity, and distractibility may be early symptoms of
assignments or tests. In social situations, initiation challenges may cause emerging executive dysfunction. Difficulties with fine motor development
a child to have difficulty beginning conversations, calling on friends, (e.g., grasping crayons/pencils, coloring, drawing) and social interaction
or going out to be with friends. may develop.
Deficits in “primary” initiation are relatively rare and are often School-age children with neurodevelopmental and executive dysfunc-
associated with significant neurologic conditions and treatments (e.g., tions can vary widely in clinical presentations. Their specific patterns

answering open-ended questions, dealing with abstract information,

Table 48.2 Neurodevelopmental Dysfunction Underlying and producing executive control (e.g., self-monitoring, organization,
Academic Disorders* planning, self-starting) is often reported.
ACADEMIC POTENTIAL UNDERLYING
DISORDER NEURODEVELOPMENTAL DYSFUNCTION Academic Problems
Reading disorders (see Chapter 50) can stem from any number of
Reading Language
Phonologic processing neurodevelopmental dysfunctions, as described earlier (see Table 48.2).
Verbal fluency Most often, language and auditory processing weaknesses are present,
Syntactic and semantic skills as evidenced by poor phonologic processing that results in deficiencies
Memory at the level of decoding individual words and, consequently, a delay in
Working memory automaticity (e.g., acquiring a repertoire of words readers can identify
Sequencing instantly) that causes reading to be slow, laborious, and frustrating.
Visual-spatial Deficits in other core neurodevelopmental domains might also be present.
Attention Weak WM might make it difficult for a child to hold sounds and symbols
Written expression, Language in mind while breaking down words into their component sounds, or
spelling Phonologic processing might cause reading comprehension problems. Some children experience
Syntactic and semantic skills temporal-ordering weaknesses and struggle with reblending phonemes
Graphomotor into correct sequences. Memory dysfunction can cause problems with
Visual-spatial recall and summarization of what was read. Some children with higher-
Memory
order cognitive deficiencies have trouble understanding what they read
Working memory
Sequencing because they lack a strong grasp of the concepts in a text. Although
Attention relatively rare as a cause of reading difficulty, problems with visual-spatial
functions (e.g., visual perception) can cause children difficulty in rec-
Mathematics Visual-spatial ognizing letters. It is not unusual for children with reading problems
Memory
to avoid reading practice, and a delay in reading proficiency becomes
Working memory
Language increasingly pronounced and difficult to remediate.
Sequencing Spelling and writing impairments share many related underlying
Graphomotor processing deficits with reading, so it is not surprising that the 2 disorders
Attention often occur simultaneously in school-age children (see Table 48.2). Core
neurodevelopmental weaknesses that underlie spelling difficulties include
*Isolated neurodevelopmental dysfunction can lead to a specific academic
disorder, but more often there is a combination of factors underlying weak
phonologic and decoding difficulties, orthographic problems (coding
academic performance. In addition to the dysfunction in neurodevelopmental letters and words into memory), and morphologic deficits (use of suffixes,
domains as listed in the table, the clinician must also consider the possibility prefixes, and root words). Problems in these areas can manifest as
of limitations of intellectual and cognitive abilities or associated social and phonetically poor, yet visually comparable approximations to the actual
emotional problems.
word (faght for fight), spelling that is phonetically correct but visually
incorrect (fite for fight), and inadequate spelling patterns (played as
plade). Children with memory disorders might misspell words because
of academic performance and behavior represent final common pathways of coding weaknesses. Others misspell because of poor auditory WM
of neurodevelopmental strengths and deficits interacting with environ- that interferes with their ability to process letters. Sequencing weaknesses
mental, social, or cultural factors; temperament; educational experience; often result in transposition errors when spelling.
and intrinsic resilience (Table 48.2). Children with language weaknesses Writing difficulties have been classified as disorder of written expres-
might have problems integrating and associating letters and sounds, sion, or dysgraphia (see Table 48.2). Although many of the same dysfunc-
decoding words, deriving meaning, and being able to comprehend tions described for reading and spelling can contribute to problems
passages. Children with early signs of a mathematics weakness might with writing, written expression is the most complex of the language
have difficulty with concepts of quantity or with adding or subtracting arts, requiring synthesis of many neurodevelopmental functions (e.g.,
without using concrete representation (e.g., their fingers when calculat- auditory, visual-spatial, memory, executive; see Chapter 51.2). Weaknesses
ing). Difficulty learning time concepts and confusion with directions in these functions can result in written output that is difficult to
(right/left) might also be observed. Poor fine motor control and coordina- comprehend, disjointed, and poorly organized. The child with WM
tion and poor planning can lead to writing problems. Attention and challenges can lose track of what the child intended to write. Attention
behavioral regulation weaknesses observed earlier can continue, and deficits can make it difficult for a child to mobilize and sustain the
together with other executive functioning weaknesses (e.g., organization, mental effort, pacing, and self-monitoring demands necessary for writing.
initiation skills), further complicate the child’s ability to acquire and In many cases, writing is laborious because of an underlying graphomotor
generalize new knowledge. Children with weaknesses in WM may dysfunction (e.g., fluency does not keep pace with ideation and language
struggle to remember the steps necessary to complete an activity or production). Thoughts may also be forgotten or underdeveloped during
problem-solve. In social settings, these children often have difficulty writing because the mechanical effort is so taxing.
keeping up with more complex conversations. Weaknesses in mathematical ability, known as mathematics disorder
In middle school children the shift in cognitive, academic, and or dyscalculia, require early intervention because math involves the
regulatory demands can cause further difficulties for those with existing assimilation of both procedural knowledge (e.g., calculations) and
neurodevelopmental and executive challenges. In reading and writing, higher-order cognitive processes (e.g., WM) (see Table 48.2). There
middle school children might present with transposition and sequencing are many reasons why children experience failure in mathematics (see
errors; might struggle with root words, prefixes, and suffixes; might Chapter 51.1). It may be difficult for some to grasp and apply math
have difficulty with written expression; and might avoid reading and concepts effectively and systematically; good mathematicians are able
writing altogether. Challenges completing word problems in math are to use both verbal and perceptual conceptualization to understand
common. Difficulty with recall of information might also be experienced. such concepts as fractions, percentages, equations, and proportion.
Although observable in both lower and more advanced grades, behavioral, Children with language dysfunctions have difficulty in mathemat-
emotional, and social difficulties tend to become more salient in middle ics because they have trouble understanding their teachers’ verbal
school children who experience cognitive or academic problems. explanations of quantitative concepts and operations and are likely to
High school students can present with deficient reading comprehen- experience frustration in solving word problems and in processing the
sion, written expression, and slower processing efficiency. Difficulty in vast network of technical vocabulary in math. Mathematics also relies

on visualization. Children who have difficulty forming and recalling a consideration as well, especially in the adolescent previously achieving
visual imagery may be at a disadvantage in acquiring mathematical well who has shown a rapid decline in academic performance.
skills. They might experience problems writing numbers correctly, The physician should be alert for dysmorphic physical features,
placing value locations, and processing geometric shapes or fractions. minor congenital anomalies, or constellations of physical findings (e.g.,
Children with executive dysfunction may be unable to focus on fine detail cardiac and palatal anomalies in velocardiofacial syndrome) and should
(e.g., operational signs), might take an impulsive approach to problem perform a detailed neurologic examination, including an assessment
solving, engage in little or no self-monitoring, forget components of the of fine and gross motor coordination and any involuntary movements
problem, or commit careless errors. When a child’s memory system is or soft neurologic signs. Special investigations (e.g., genetic deletion-
weak, the child might have difficulty recalling appropriate procedures duplication microarray, electroencephalogram, MRI) are not always
and automatizing mathematical facts (e.g., multiplication tables). More- indicated in the absence of specific medical findings or a family history.
over, children with mathematical disabilities can have superimposed Measures of brain function, such as functional MRI, offer insight into
mathematics phobias; anxiety over mathematics can be especially possible areas of neurodevelopmental dysfunction but remain primarily
debilitating. research tools.
Early signs of executive dysfunction can also be subtle and easily
Nonacademic Problems overlooked or misinterpreted. Informal inquiry might include questions
The impulsivity and lack of effective self-monitoring of children with about how children complete schoolwork or tasks, how organized or
executive dysfunction can lead to unacceptable actions that were disorganized they are, how much guidance they need, whether they
unintentional. Children struggling with neurodevelopmental dysfunction think through problems or respond and react too quickly, what cir-
can experience excessive performance anxiety, sadness, or clinical cumstances or individuals affect their ability to employ EFs, how easily
depression; declining self-esteem; and chronic fatigue. Some children they begin tasks and activities, and how well they plan, manage belong-
lose motivation. They tend to give up and exhibit learned helplessness, ings, and control their emotions.
a sense that they have no control over their destiny. Therefore they feel Pediatricians who are interested in performing further assessment
no need to exert effort and develop future goals. These children may before referral, or who are practicing in areas where psychological testing
be easily led toward dysfunctional interpersonal relationships, detrimental resources are limited, can utilize standardized rating scales and inventories
behaviors (e.g., delinquency), and the development of mental health or brief, individually administered tests to narrow potential diagnoses
disorders, such as mood disorders (see Chapter 39) or conduct disorder and guide next steps in diagnosis and treatment. Such instruments,
(Chapter 42). completed by the parents, teachers, and the child (if old enough), can
provide information about emotions and behavior, patterns of academic
ASSESSMENT AND DIAGNOSIS performance, and traits associated with specific neurodevelopmental
Pediatricians have a critical role in identifying and treating the child dysfunctions (see Chapter 32). Screening instruments such as the Pediatric
with neurodevelopmental or executive dysfunction (Fig. 48.1). They Symptom Checklist and behavioral questionnaires such as the Child
have knowledge of the child’s medical and family history and social- Behavior Checklist (CBCL) and Behavior Assessment System for Children,
environmental circumstances and have the benefit of longitudinal contact Second Edition (BASC-2) can aid in evaluation. Instruments more
over the course of routine health visits. Focused surveillance and specifically focused on academic disorders, such as the Learning Dis-
screening will lead to early identification of developmental-behavioral abilities Diagnostic Inventory, can be completed by the child’s teacher
and preacademic difficulties and interventions to facilitate optimal to reveal the extent to which skill patterns in a particular area (e.g.,
outcomes. reading, writing) are consistent with those of individuals known to
A family history of a parent who still struggles with reading or time have a learning disability.
management, or an older sibling who has failed at school, should spur Executive functions can be further assessed by instruments such as
an increased level of monitoring. Risk factors in the medical history, the Behavior Rating Inventory of Executive Function, Second Edition
such as extreme prematurity or chronic medical conditions, should (BRIEF2), which provides a comprehensive measure of real-world
likewise be flagged. Children with low birthweight and those born behaviors that are closely tied to executive functioning in children
prematurely who appear to have been spared more serious neurologic age 5-18 yr. An alternative rating inventory of EF in children is the
problems might only manifest academic problems later in their school Comprehensive Executive Function Inventory (CEFI). Tests that can
career. Nonspecific physical complaints or unexpected changes in be directly administered to gauge intellectual functioning include the
behavior might be presenting symptoms. Warning signs might be subtle Kaufman Brief Intelligence Test, Second Edition (KBIT-2) and Peabody
or absent, and parents might have concerns about their child’s learning Picture Vocabulary Test, Fourth Edition (PPVT 4; assessing receptive
progress but may be reluctant to share these with the pediatrician unless vocabulary). A relatively brief test of academic skills is the Wide Range
prompted, such as through completion of standardized developmental Achievement Test 4 (WRAT4). It should be recognized that these are
screening questionnaires or direct questioning regarding possible midlevel tests that can provide descriptive estimates of function but
concerns. There should be a low threshold for initiating further school are not diagnostic.
performance screening and assessment if there are any “red flags.” Children who are struggling academically are entitled to evaluations
Review of school report cards can provide very useful information. in school. Such assessments are guaranteed in the United States under
In addition to patterns of grades in the various academic skill areas, it Public Law 101-476, the Individuals with Disabilities Education Act
is also important to review ratings of classroom behavior and work (IDEA). One increasingly common type of evaluation supported by
habits. Group-administered standardized tests provide further informa- IDEA is referred to as a response to intervention (RtI) model (see
tion, although interpretation is required because poor scores could result Chapter 51.1). In this model, students who are struggling with academic
from a learning disorder, ADHD, anxiety, lack of motivation, or some skills are initially provided research-based instruction. If a child does
combination. Conversely, a discrepancy between above-average scores not respond to this instruction, an individualized evaluation by a
on standardized tests and unsatisfactory classroom performance could multidisciplinary team is conducted. Children found to have attentional
signal motivation or adjustment issues. Challenges related to homework dysfunction and other disorders might qualify for educational accom-
can provide further insight regarding executive, academic skill, and modations in the regular classroom under Section 504 of the Rehabilita-
behavioral factors. tion Act of 1973 (504 plan).
Underlying or associated medical problems should be ruled out. Any The pediatrician should advise and support parents regarding steps
suspicion of sensory difficulty should warrant referral for vision or to request evaluations by the school. Multidisciplinary evaluations are
hearing testing. The influence of chronic medical problems or potential focused primarily on determining whether a student meets the eligibility
side effects of medications should be considered. Sleep deprivation is criteria for special education services and to assist in developing an
increasingly being recognized as a contributor to academic problems, individualized educational plan (IEP) for those eligible for these
especially in middle and high school. Substance abuse must always be services. Independent evaluations can provide second opinions outside

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
Prescribe and manage medications if needed resource services; developmental therapies
Support child and parents Address executive dysfunction: modeling;
Explain test findings and “demystify” games; strategies; programs
Advocate for appropriate services; advise on Strengthen strengths and leverage affinities
nonstandard therapies Counseling

Fig. 48.1 Primary care approach to neurodevelopmental and executive dysfunction.

the school setting. The multidisciplinary team should include a psycholo- In some cases, more in-depth examination of a child’s neurocognitive
gist and preferably an educational diagnostician who can undertake a status is warranted. This is particularly true for children who present
detailed analysis of academic skills and subskills to pinpoint where with developmental or cognitive difficulties in the presence of a medical
breakdowns are occurring in the processes of reading, spelling, writing, condition (e.g., epilepsy, traumatic brain injury, childhood cancers/
and mathematics. Other professionals should become involved, as needed, brain tumors, genetic conditions). A neuropsychological evaluation
such as a speech-language pathologist, occupational therapist, and social involves comprehensive assessment to understand brain functions across
worker. A mental health specialist can be valuable in identifying family- domains. Neuropsychological data are often analyzed together with
based issues or psychiatric disorders that may be complicating or other tests, such as MRI, to look for supporting evidence of any areas
aggravating neurodevelopmental dysfunctions. of difficulty (e.g., memory weaknesses associated with temporal lobe

anomalies). Neuropsychologists can also provide more in-depth evalu- rosie” (self-control); imitation activities (attention and impulse control);
ation of EFs. Assessment of EFs is typically completed in an examination matching and sorting games (organization and attention); and imaginary
setting using tools specifically designed to identify any weaknesses in play (attention, WM, IC, self-monitoring, cognitive flexibility).
these functions. Although few tools are currently available to assess EF In school-age children it is crucial to establish consistent cognitive
in preschool-age children, the assessment of school-age children is better and behavioral routines that foster and maximize independent, goal-
established. Problems with EFs should be evaluated across measures oriented problem solving and performance through mechanisms that
and in different settings, particularly within the context of the child’s include modification of the child’s environment, modeling and guidance
daily demands. with the child, and positive reinforcement strategies. Interventions should
promote generalization (teaching executive routines in the context of
TREATMENT a problem, not as a separate skill) and should move from the external
In addition to addressing any underlying or associated medical problems, to the internal (from “external support” with active and directive modeling
the pediatrician can play an important role as a consultant and advocate to an “internal process”). An intervention could proceed from external
in overseeing and monitoring the implementation of a comprehensive modeling of multistep problem-solving routines and external guidance
multidisciplinary management plan for children with neurodevelopmental in developing and implementing everyday routines, to practicing
dysfunctions. Most children require several of the following forms of application and use of routines in everyday situations, to a gradual
intervention. fading of external support and cueing of internal generation and use
of executive skills. Such approaches should make the child a part of
Demystification intervention planning, should avoid labeling, reward effort not outcomes,
Many children with neurodevelopmental dysfunctions have little or no make interventions positive, and hold the child responsible for his or
understanding of the nature or sources of their academic difficulties. her efforts. Studies have consistently shown that a combination of
Once an appropriate descriptive assessment has been performed, it is medication and behavioral treatments are most effective, although
important to explain to the child the nature of the dysfunction while evidence for long term efficacy is lacking. It is important that any
delineating the child’s strengths. This explanation should be provided treatment plans aimed at bolstering attention and executive functioning
in nontechnical language, communicating a sense of optimism and a also include interventions that address the specific deficits associated
desire to be helpful and supportive. with any comorbid diagnoses.
In addition to behavioral approaches, computerized training programs
Bypass Strategies (Accommodations) have been shown to strengthen WM skills in children using a computer
Numerous techniques can enable a child to circumvent neurodevel- game model. Generalized and lasting improvements in WM have been
opmental dysfunctions. Such bypass strategies are ordinarily used in reported. Also evidencing positive outcomes are curriculum-based
the regular classroom. Examples of bypass strategies include using a classroom programs, such as the Tools of the Mind (Tools) and Promoting
calculator while solving mathematical problems, writing essays with Alternative Thinking Strategies (PATHS). Other promising approaches
a word processor, presenting oral instead of written reports, solving to EF intervention include aerobic exercise, shown to improve EFs
fewer mathematical problems, being seated near the teacher to minimize through prefrontal cortex stimulation. Martial arts such as tae kwon
distraction, presenting correctly solved mathematical problems visually, do, which stresses discipline and self-regulation, has demonstrated
and taking standardized tests untimed. These bypass strategies do not improvements that generalize in many aspects of EFs and attention
cure neurodevelopmental dysfunctions, but they minimize their academic (e.g., sustained focus). Approaches that use mindfulness techniques
and nonacademic effects and can provide a scaffold for more successful are also gaining prominence. Formal parenting interventions have
academic achievement. also demonstrated strong evidence for effectiveness. Four programs
that have the most empirical support are the Triple P, Parent-Child
Treatment of Neurodevelopmental Dysfunctions Interaction Therapy (PCIT), Incredible Years, and New Forest Parenting
Interventions can be implemented at home and in school to strengthen Programme.
the weak links in academic skills. Reading specialists, mathematics Table 48.3 outlines interventions to target the specific components
tutors, and other professionals can use diagnostic data to select techniques of EF. Although interventions may target each component separately,
that use a student’s neurodevelopmental strengths to improve decoding success will be determined by how well treatments can be integrated
skills, writing ability, or mathematical computation skills. Remediation across settings and generalized to other areas of function. Whenever
need not focus exclusively on specific academic areas. Many students possible, working with more than one EF simultaneously is encouraged
need assistance in acquiring study skills, cognitive strategies, and produc- as a means of scaffolding intervention and building on previously
tive organizational habits. mastered skills.
Early identification is critical so that appropriate instructional
interventions can be introduced to minimize the long-term effects of Developmental Therapy
academic disorders. Any interventions should be empirically supported Speech-language pathologists offer intervention for children with various
(e.g., phonologically based reading intervention has been shown to forms of language disability. Occupational therapists focus on sensorimo-
significantly improve reading skills in school-age children). Remediation tor skills, including the motor skills of students with writing problems,
may take place in a resource room or learning center at school and is and physical therapists address gross motor incoordination.
usually limited to children who have met the educational criteria for
special education resource services described earlier. Curriculum Modifications
Interventions that can be implemented at home could include drills Many children with neurodevelopmental dysfunctions require alterations
to aid the automatization of subskills, such as arithmetic facts or letter in the school curriculum to succeed, especially as they progress through
formations, or the use of phonologically based reading programs. secondary school. Students with memory weaknesses might need to
have their courses selected for them so that they do not have an inordinate
Treatment of Executive Dysfunction cumulative memory load in any single semester. The timing of foreign
Interventions to strengthen EFs can be implemented throughout child- language learning, the selection of a mathematics curriculum, and the
hood but are most effective if started at a young age. Preschool-age choice of science courses are critical issues for many of these struggling
children first experience EFs by way of the modeling, boundaries, and adolescents.
rules observed and put in place by their parents/caregivers, and this
modeled behavior must gradually become “internalized” by the child. Strengthening of Strengths
Early play has been shown to be effective in promoting executive skills Affected children need to have their affinities, potentials, and talents
in younger children with games such as peek-a-boo (WM); pat-a-cake identified clearly and exploited widely. It is as important to augment
(WM and IC); follow the leader, Simon says, and “ring around the strengths as it is to attempt to remedy deficiencies. Athletic skills, artistic

Table 48.3 Executive Function Categories: Presenting Symptoms, Suggested Dysfunction, and Potential Interventions
SYMPTOM/PRESENTING SUSPECTED AREA
COMPLAINT OF DYSFUNCTION POSSIBLE “REAL WORLD” INTERVENTIONS
Acts before thinking Disinhibition/impulsivity 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 emotional Post rules in view; point to them when child breaks rule.
control Teach response-delay techniques (e.g., counting to 10 before acting).
Cannot follow multistep instructions Working memory Repeat instructions as needed.
Forgetful Keep instructions clear and concise.
Provide concrete references.
Struggles starting assignments/tasks Initiation Increase structure of tasks.
Lacks initiative/motivation Establish and rely on routine.
Has trouble developing ideas/ Break tasks into smaller, manageable steps.
strategies Place child with partner or group for modeling and cuing from peers.
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
Random/haphazard problem solving help child grasp structure of new information.
Procrastinates/does not complete Present framework of new information to be learned at the outset, and
tasks review again at the end of a lesson.
Begin with tasks with only 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.

inclinations, creative talents, and mechanical abilities are among the financial resources usually demanded by these remedies. In many cases,
potential assets of certain students who are underachieving academically. it is difficult to distinguish the nonspecific beneficial effects of increased
Parents and school personnel need to create opportunities for such support and attention paid to the child from the supposed target effects
students to build on these assets and to achieve respect and praise for of the intervention.
their efforts. These well-developed personal assets can ultimately have
implications for the transition into young adulthood, including career Medication
or college selection. Psychopharmacologic agents may be helpful in lessening the toll of
some neurodevelopmental dysfunctions. Most often, stimulants are
Individual and Family Counseling used in the treatment of children with attention deficits. Although most
When academic difficulties are complicated by family problems or children with attention deficits have other associated dysfunctions, such
identifiable psychiatric disorders, psychotherapy may be indicated. as language disorders, memory problems, motor weaknesses, or social
Mental health professionals may offer long-term or short-term therapy. skill deficits, medications such as methylphenidate, dextroamphetamine,
Such intervention may involve the child alone or the entire family. lisdexamfetamine, and mixed amphetamine salts, as well as nonstimulants
Cognitive-behavioral therapy is especially effective for mood and anxiety such as α2-adrenergic agonists and atomoxetine, can be important
disorders. It is essential that the therapist have a firm understanding adjuncts to treatment by helping some children focus more selectively
of the nature of a child’s neurodevelopmental dysfunctions. and control their impulsivity. When depression or excessive anxiety is
a significant component of the clinical picture, antidepressants or
Nonstandard Therapies anxiolytics may be helpful. Other drugs may improve behavioral control
A variety of treatment methods for neurodevelopmental dysfunctions (see Chapter 33). Children receiving medication need regular follow-up
have been proposed that currently have little to no known scientific visits that include a history to check for side effects, a review of current
evidence of efficacy. This list includes dietary interventions (vitamins, behavioral checklists, a complete physical examination, and appropriate
elimination of food additives or potential allergens), neuromotor modifications of the medication dose. Periodic trials off medication are
programs or medications to address vestibular dysfunction, eye exercises, recommended to establish whether the medication is still necessary.
filters, tinted lenses, and various technologic devices. Parents should
be cautioned against expending the excessive amounts of time and Bibliography is available at Expert Consult.

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Chapter 48 ◆ Neurodevelopmental and Executive Function and Dysfunction 261.e1

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American Academy of Pediatrics, Committee on Children with Disabilities: The tive function, ed 2 (BRIEF2), Professional manual. Lutz, FL, 2015, Psychological
pediatrician’s role in development and implementation of an Individual Education Assessment Resources.
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Anderson PJ, Reidy N: Assessing executive function in preschoolers, Neuropsychol 2016, American Psychological Association.
Rev 22:345–360, 2012. Ransom DM, Vaughan CG, Pratson L: Academic effects of concussion in children
Cuevas K, Bell MA: Infant attention and early childhood executive function, Child and adolescents, Pediatrics 135(6):2015.
Dev 85(2):397–404, 2014. Swillen A, McDonald-McGinn DM: Developmental trajectories in 22q11.2 deletion,
Eicher JD, Montgomery AM, Akshoomoff N, et al: Dyslexia and language impairment Am J Med Genet C Semin Med Genet 169(2):172–181, 2015.
associated genetic markers influence cortical thickness and white matter in typically Zelazo PD, Carlson SM: Hot and cool executive function in childhood and adolescence:
developing children, Brain Imaging Behav 10:272–282, 2016. development and plasticity, Child Dev Perspect 6(4):354–360, 2012.

behaviors (e.g., substance abuse), difficulty maintaining relationships,

Chapter 49 encounters with the law, death from suicide, and, if untreated, accidents
(Figs. 49.2 and 49.3).
Attention-Deficit/ ETIOLOGY
No single factor determines the expression of ADHD; ADHD may be
Hyperactivity Disorder a final common pathway for a variety of complex brain developmental
processes. Mothers of children with ADHD are more likely to experience
David K. Urion birth complications, such as toxemia, lengthy labor, and complicated
delivery. Maternal drug use has also been identified as a risk factor in
the development of ADHD. Maternal smoking, alcohol use during
Attention-deficit/hyperactivity disorder (ADHD) is the most common pregnancy, and prenatal or postnatal exposure to lead are frequently
neurobehavioral disorder of childhood, among the most prevalent chronic linked to the attentional difficulties associated with development of
health conditions affecting school-aged children, and one of the most ADHD, but less clearly to hyperactivity. Food coloring and preservatives
extensively studied neurodevelopmental disorders of childhood. ADHD have inconsistently been associated with increased hyperactivity in
is characterized by inattention, including increased distractibility and children with ADHD.
difficulty sustaining attention; poor impulse control and decreased There is a strong genetic component to ADHD. Genetic studies have
self-inhibitory capacity; and motor overactivity and motor restlessness primarily implicated 2 candidate genes, the dopamine transporter gene
(Table 49.1 and Fig. 49.1). Definitions vary in different countries (Table (DAT1) and a particular form of the dopamine 4 receptor gene (DRD4),
49.2). Affected children usually experience academic underachievement, in the development of ADHD. Additional genes that might contribute
problems with interpersonal relationships with family members and to ADHD include DOCK2, associated with a pericentric inversion 46N
peers, and low self-esteem. ADHD often co-occurs with other emotional, inv(3)(p14:q21) involved in cytokine regulation; a sodium-hydrogen
behavioral, language, and learning disorders (Table 49.3). Evidence also exchange gene; and DRD5, SLC6A3, DBH, SNAP25, SLC6A4, and HTR1B.
suggests that for many people, the disorder continues with varying Structural and functional abnormalities of the brain have been identi-
manifestations across the life cycle, leading to significant under- and fied in children with ADHD. These include dysregulation of the frontal
unemployment, social dysfunction and increased risk of antisocial subcortical circuits, small cortical volumes in this region, widespread

Table 49.1 DSM-5 Diagnostic Criteria for Attention-Deficit/Hyperactivity Disorder (ADHD)

A. A persistent pattern of inattention and/or hyperactivity/impulsivity f. Often talks excessively.
that interferes with functioning or development, as characterized Impulsivity.
by (1) and/or (2): g. Often blurts out answers before questions have been
1. Inattention: Six (or more) of the following symptoms of completed.
inattention have persisted for ≥6 mo to a degree that is h. Often has difficulty awaiting turn.
inconsistent with development level and that negatively i. Often interrupts or intrudes on others (e.g., butts into
impacts directly on social and academic/occupational activities: conversations or games).
a. Often fails to give close attention to details or makes B. Several inattentive or hyperactive/impulsive symptoms were
careless mistakes in schoolwork, at work, or during other present before 12 yr of age.
activities (e.g., overlooks or misses details, work is C. Several inattentive or hyperactive/impulsive symptoms are
inaccurate). present in 2 or more settings (e.g., at school [or work] or at home)
b. Often has difficulty sustaining attention in tasks or play and is documented independently.
activities. D. There is clear evidence of clinically significant impairment in
c. Often does not seem to listen when spoken to directly. social, academic, or occupational functioning.
d. Often does not follow through on instructions and fails to E. Symptoms do not occur exclusively during the course of
finish schoolwork, chores, or duties in the workplace (not schizophrenia, or another psychotic disorder, and are not better
due to oppositional behavior or failure to understand accounted for by another mental disorder (e.g., mood disorder,
instructions). anxiety disorder, dissociative disorder, personality disorder,
e. Often has difficulty organizing tasks and activities. substance intoxication or withdrawal).
f. Often avoids, dislikes, or is reluctant to engage in tasks
that require sustained mental effort (e.g., schoolwork, CODE BASED ON TYPE
homework). 314.01 Attention-deficit/hyperactivity disorder, combined
g. Often loses things necessary for tasks or activities (e.g., toys, presentation: if both Criteria A1 and A2 are met for the past 6 mo.
school assignments, pencils, books, tools). 314.00 Attention-deficit/hyperactivity disorder, predominantly
h. Is often easily distracted by extraneous stimuli. inattentive presentation: if Criterion A1 is met but Criterion A2 is
i. Is often forgetful in daily activities. not met for the past 6 mo.
2. Hyperactivity/impulsivity: Six (or more) of the following 314.01 Attention-deficit/hyperactivity disorder, predominantly
symptoms of inattention have persisted for ≥6 mo to a degree hyperactive-impulsive presentation: if Criterion A2 is met but
that is inconsistent with development level and that negatively Criterion A1 is not met for the past 6 mo.
impacts directly on social and academic/occupational activities. Specify if:
a. Often fidgets with hands or feet or squirms in seat. Mild: Few, if any, symptoms in excess of those required to make the
b. Often leaves seat in classroom or in other situations in which diagnosis are present, and if the symptoms result in no more than
remaining seated is expected. minor impairments in social and occupational functioning.
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 the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision, Washington, DC, 2000, and Fifth Edition, (Copyright 2013). American
Psychiatric Association.

Keywords
ADHD
stimulant medication
hyperactivity
inattention
impulsivity
executive functions
behavior therapy

Poor concentration Hyperactivity Impulsivity

Difficulties with Struggle to Constrantly 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. 49.1 How to assess children for attention-deficit/hyperactivity disorder. (From Verkuijl N, Perkins M, Fazel M: Childhood attention-deficit/
hyperactivity disorder, BMJ 350:h2168, 2015, Fig 2, p 146.)

Table 49.2 Differences Between U.S. and European Table 49.3 Differential Diagnosis of Attention-Deficit/
Criteria for ADHD or HKD Hyperactivity Disorder (ADHD)
DSM-5 ADHD ICD-10 HKD PSYCHOSOCIAL FACTORS
SYMPTOMS Response to physical or sexual abuse
Response to inappropriate parenting practices
Either or both of the following: All of the following:
Response to parental psychopathology
At least 6 of 9 inattentive At least 6 of 8 inattentive
Response to acculturation
symptoms symptoms
Response to inappropriate classroom setting
At least 6 of 9 hyperactive or At least 3 of 5 hyperactive
impulsive symptoms symptoms DIAGNOSES ASSOCIATED WITH ADHD BEHAVIORS
At least 1 of 4 impulsive symptoms
Fragile X syndrome
PERVASIVENESS Fetal alcohol syndrome
Some impairment from Criteria are met for >1 setting Pervasive developmental disorders
symptoms is present in >1 Obsessive-compulsive disorder
setting Gilles de la Tourette syndrome
Attachment disorder with mixed emotions and conduct
ADHD, Attention-deficit/hyperactivity disorder; HKD, hyperkinetic disorder;
DSM-5, Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition; MEDICAL AND NEUROLOGIC CONDITIONS
ICD-10, International Classification of Diseases, Tenth Edition. Thyroid disorders (including general resistance to thyroid hormone)
From Biederman J, Faraone S: Attention-deficit hyperactivity disorder, Lancet
366:237–248, 2005.
Heavy metal poisoning (including lead)
Adverse effects of medications
Effects of abused substances
small-volume reduction throughout the brain, and abnormalities of the Sensory deficits (hearing and vision)
cerebellum, particularly midline/vermian elements (see Pathogenesis). Auditory and visual processing disorders
Brain injury also increases the risk of ADHD. For example, 20% of Neurodegenerative disorder, especially leukodystrophies
Posttraumatic head injury
children with severe traumatic brain injury are reported to have sub-
Postencephalitic disorder
sequent onset of substantial symptoms of impulsivity and inattention.
However, ADHD may also increase the risk of traumatic brain injury. Note: Coexisting conditions with possible ADHD presentation include
Psychosocial family stressors can also contribute to or exacerbate the oppositional defiant disorder, anxiety disorders, conduct disorder, depressive
disorders, learning disorders, and language disorders. Presence of one or more
symptoms of ADHD, including poverty, exposure to violence, and of the symptoms of these disorders can fall within the spectrum of normal
undernutrition or malnutrition. behavior, whereas a range of these symptoms may be problematic but fall short
of meeting the full criteria for the disorder.
EPIDEMIOLOGY From Reiff MI, Stein MT: Attention-deficit/hyperactivity disorder evaluation
and diagnosis: a practical approach in office practice, Pediatr Clin North Am
Studies of the prevalence of ADHD worldwide have generally reported 50:1019–1048, 2003. Adapted from Reiff MI: Attention-deficit/hyperactivity
that 5–10% of school-age children are affected, although rates vary disorders. In Bergman AB, editor: 20 Common problems in pediatrics, New
considerably by country, perhaps in part because of differing sampling York, 2001, McGraw-Hill, p 273.

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

present with comorbid neuropsychiatric diagnoses, including oppositional

Violence defiant disorder, conduct disorder, learning disabilities, and anxiety
Antisocial disorders disorders. The incidence of ADHD appears increased in children with
Crime neurologic disorders such as the epilepsies, neurofibromatosis, and
tuberous sclerosis (see Table 49.3).

PATHOGENESIS
Accidents
Brain MRI studies in children with ADHD indicate a reduction or even
Substance use loss of the normal hemispheric asymmetry in the brain, as well as
Fighting
smaller brain volumes of specific structures, such as the prefrontal cortex
and basal ganglia. Children with ADHD have approximately a 5–10%
ADHD reduction in the volume of these brain structures. MRI findings suggest
low blood flow to the striatum. Functional MRI data suggest deficits
Accidents in dispersed functional networks for selective and sustained attention
Inattention and Impulsivity in ADHD that include the striatum, prefrontal regions, parietal lobe,
Poor health habits
and temporal lobe. The prefrontal cortex and basal ganglia are rich in
dopamine receptors. This knowledge, plus data about the dopaminergic
mechanisms of action of medication treatment for ADHD, has led to
the dopamine hypothesis, which postulates that disturbances in the
Health risks dopamine system may be related to the onset of ADHD. Fluorodopa
Risky behaviors positron emission tomography (PET) scans also support the dopamine
Accidents
hypothesis through the identification of low levels of dopamine activity
in adults with ADHD.

Mood disorders Suicide CLINICAL MANIFESTATIONS

Development of the Diagnostic and Statistical Manual of Mental Disorders,
Fig. 49.3 Pathways to premature death in persons with attention-deficit/ Fifth Edition (DSM-5) criteria leading to the diagnosis of ADHD has
hyperactivity disorder (ADHD). (From Faraone SV: Attention deficit occurred mainly in field trials with children 5-12 yr of age (see Table
hyperactivity disorder and premature death, Lancet 385:2132–2133, 49.1 and Fig. 49.1). The DSM-5 notably expanded the accepted age of
2015.) onset for symptoms of ADHD, and studies utilizing these broader criteria
demonstrate a good correlation with data from DSM-IV criteria–based
and testing techniques. Rates may be higher if symptoms (inattention, studies. The current DSM-5 criteria state that the behavior must be
impulsivity, hyperactivity) are considered in the absence of functional developmentally inappropriate (substantially different from that of
impairment. The prevalence rate in adolescent samples is 2–6%. other children of the same age and developmental level), must begin
Approximately 2% of adults meet criteria for ADHD. ADHD is often before age 12 yr, must be present for at least 6 mo, must be present
underdiagnosed in children and adolescents. Youth with ADHD are in 2 or more settings and reported as such by independent observers,
often undertreated with respect to what is known about the needed and must not be secondary to another disorder. DSM-5 identifies three
and appropriate doses of medications. Many children with ADHD also presentations of ADHD. The inattentive presentation is more common

in females and is associated with relatively high rates of internalizing to highway with deposition of lead in topsoil from automobile exhaust
symptoms (anxiety and low mood). The other two presentations, years ago). Behavior in the structured laboratory setting might not
hyperactive-impulsive and combined, are more often diagnosed in males reflect the child’s typical behavior in the home or school environment.
(see Fig. 49.1). Thus, computerized attentional tasks and electroencephalographic
Clinical manifestations of ADHD may change with age (see Fig. assessments are not needed to make the diagnosis, and compared to
49.2). The symptoms may vary from motor restlessness and aggressive the clinical gold standard, these are subject to false-positive and false-
and disruptive behavior, which are common in preschool children, to negative errors. Similarly, observed behavior in a physician’s office is
disorganized, distractible, and inattentive symptoms, which are more not sufficient to confirm or rule-out the diagnosis of ADHD.
typical in older adolescents and adults. ADHD is often difficult to
diagnose in preschoolers because distractibility and inattention are often Differential Diagnosis
considered developmental norms during this period. Chronic illnesses, such as migraine headaches, absence seizures, asthma/
allergies, hematologic disorders, diabetes, and childhood cancer, affect
DIAGNOSIS AND DIFFERENTIAL DIAGNOSIS up to 20% of U.S. children and can impair children’s attention and
A diagnosis of ADHD is made primarily in clinical settings after a school performance, because of either the disease itself or the medications
thorough evaluation, including a careful history and clinical interview used to treat or control the underlying illness (medications for asthma,
to rule in or to identify other causes or contributing factors; completion corticosteroids, anticonvulsants, antihistamines) (see Table 49.3). In
of behavior rating scales by different observers from at least 2 settings older children and adolescents, substance abuse can result in declining
(e.g., teacher and parent); a physical examination; and any necessary or school performance and inattentive behavior (see Chapter 140).
indicated laboratory tests that arise from conditions suspected based on Sleep disorders, including those secondary to chronic upper airway
history and/or physical examination. It is important to systematically obstruction from enlarged tonsils and adenoids, often result in behavioral
gather and evaluate information from a variety of sources, including and emotional symptoms that can resemble or exacerbate ADHD (see
the child, parents, teachers, physicians, and when appropriate, other Chapter 31). Periodic leg movements of sleep/restless leg syndrome has
caretakers, over the course of both diagnosis and subsequent management. been associated with attentional symptoms, and inquiry regarding this
should be made during the history. Behavioral and emotional disorders
Clinical Interview and History can cause disrupted sleep patterns as well.
The clinical interview allows a comprehensive understanding of whether Depression and anxiety disorders can cause many of the same
the symptoms meet the diagnostic criteria for ADHD. During the inter- symptoms as ADHD (inattention, restlessness, inability to focus and
view, the clinician should gather information pertaining to the history concentrate on work, poor organization, forgetfulness) but can also be
of the presenting problems, the child’s overall health and development, comorbid conditions (see Chapters 38 and 39). Obsessive-compulsive
and the social and family history. The interview should emphasize factors disorder can mimic ADHD, particularly when recurrent and persistent
that might affect the development or integrity of the central nervous thoughts, impulses, or images are intrusive and interfere with normal
system or reveal chronic illness, sensory impairments, sleep disorders, daily activities. Adjustment disorders secondary to major life stresses
or medication use that might affect the child’s functioning. Disruptive (death of a close family member, parents’ divorce, family violence, parents’
social factors, such as family discord, situational stress, and abuse or substance abuse, a move, shared social trauma such as bombings or
neglect, can result in hyperactive or anxious behaviors. A family history other attacks) or parent–child relationship disorders involving conflicts
of first-degree relatives with ADHD, mood or anxiety disorders, learning over discipline, overt child abuse and/or neglect, or overprotection can
disability, antisocial disorder, or alcohol or substance abuse might indicate result in symptoms similar to those of ADHD.
an increased risk of ADHD and comorbid conditions. Although ADHD is believed to result from primary impairment of
attention, impulse control, and motor activity, there is a high prevalence
Behavior Rating Scales of comorbidity with other neuropsychiatric disorders (see Table 49.3).
Behavior rating scales are useful in establishing the magnitude and Of children with ADHD, 15–25% have learning disabilities, 30–35%
pervasiveness of the symptoms, but are not sufficient alone to make a have developmental language disorders, 15–20% have diagnosed mood
diagnosis of ADHD. A variety of well-established behavior rating scales disorders, and 20–25% have coexisting anxiety disorders. Children with
have obtained good results in discriminating between children with ADHD can also have concurrent diagnoses of sleep disorders, memory
ADHD and controls. These measures include, but are not limited to, impairment, and decreased motor skills.
the Vanderbilt ADHD Diagnostic Rating Scale, the Conner Rating Scales
(parent and teacher), ADHD Rating Scale 5, the Swanson, Nolan, and TREATMENT
Pelham Checklist (SNAP), and the ADD-H: Comprehensive Teacher Rating Psychosocial Treatments
Scale (ACTeRS). Other broad-band checklists, such as the Achenbach Once the diagnosis of ADHD has been established, the parents and
Child Behavior Checklist (CBCL) or Behavioral Assessment Scale for child should be educated with regard to the ways ADHD can affect
Children (BASC), are useful, particularly when the child may be learning, behavior, self-esteem, social skills, and family function. The
experiencing coexisting problems in other areas (anxiety, depression, clinician should set goals for the family to improve the child’s interper-
conduct problems). Some, such as the BASC, include a validation scale sonal relationships, develop study skills, and decrease disruptive
to help determine the reliability of a given observer’s assessment of behaviors. Parent support groups with appropriate professional consulta-
the child. tion to such groups can be very helpful.

Physical Examination and Laboratory Findings Behaviorally Oriented Treatments

No laboratory tests are available to identify ADHD in children. The Treatments geared toward behavioral management often occur in the
presence of hypertension, ataxia, or symptoms of a sleep or thyroid time frame of 8-12 sessions. The goal of such treatment is for the clinician
disorder should prompt further neurologic or endocrine diagnostic to identify targeted behaviors that cause impairment in the child’s life
evaluation. Impaired fine motor movement and poor coordination and (disruptive behavior, difficulty in completing homework, failure to obey
other subtle neurologic motor signs (difficulties with finger tapping, home or school rules) and for the child to work on progressively
alternating movements, finger-to-nose, skipping, tracing a maze, cutting improving his or her skill in these areas. The clinician should guide the
paper) are common but not sufficiently specific to contribute to a parents and teachers in setting appropriate expectations, consistently
diagnosis of ADHD. The clinician should also identify any possible implementing rewards to encourage desired behaviors and consequences
vision or hearing problems. The clinician should consider testing for to discourage undesired behaviors. In short-term comparison trials,
elevated lead levels in children who present with some or all of the stimulants have been more effective than behavioral treatments used
diagnostic criteria, if these children are exposed to environmental factors alone in improving core ADHD symptoms for most children. Behavioral
that might put them at risk (substandard housing, old paint, proximity interventions are modestly successful at improving core ADHD symptoms

and are considered the first-line treatment in preschool-age children Pediatric patient under consideration
with ADHD. In addition, behavioral treatment may be particularly for or currently being treated with
useful for children with comorbid anxiety, complex comorbidities, family stimulant medication
stressors, and when combined with medication.

Medications
The most widely used medications for the treatment of ADHD are the Known cardiac disease?
No Yes
presynaptic dopaminergic agonists, commonly called psychostimulant
medications, including methylphenidate, dexmethylphenidate, amphet-
amine, and various amphetamine and dextroamphetamine preparations. Patient history, family Further evaluation – if
Longer-acting, once-daily forms of each of the major types of stimulant history, or physical Yes indicated, obtain input from
medications are available and facilitate compliance with treatment exam suggestive of a pediatric cardiologist.
and coverage over a longer period (see Table 49.3). When starting a cardiac disease?
stimulant, the clinician can select either a methylphenidate-based or Yes
an amphetamine-based compound. If a full range of methylphenidate No
After initiating treatment,
dosages is used, approximately 25% of patients have an optimal response Treatment with stimulants does history or exam
on a low dose (<0.5 mg/kg/day for methylphenidate, <0.25 mg/kg/day does not require additional change to suggest possible
for amphetamines), 25% on a medium dose (0.5-1.0 mg/kg/day for cardiac testing. cardiac disease?
methylphenidate, 0.25-0.5 mg/kg/day for amphetamines), and 25% on
a high dose (1.0-1.5 mg/day for methylphenidate, 0.5-0.75 mg/kg/day No
for amphetamine); another 25% will be unresponsive or will have side
effects, making that drug particularly unpalatable for the family (See Fig. 49.4 Cardiac evaluation of children and adolescents with ADHD
Table 33.2 for more information on dosing). receiving or being considered for stimulant medications. (From Perrin
JM, Friedman RA, Knilans TK: Cardiovascular monitoring and stimulant
Over the first 4 wk of treatment, the physician should increase the
drugs for attention-deficit/hyperactivity disorder, Pediatrics 122:451–453,
medication dose as tolerated (keeping side effects minimal to absent) 2008.)
to achieve maximum benefit. If this strategy does not yield satisfactory
results, or if side effects prevent further dose adjustment in the presence
of persisting symptoms, the clinician should use an alternative class of
stimulants that was not used previously. If a methylphenidate compound children. In some of the reported cases, the patient had an underlying
is unsuccessful, the clinician should switch to an amphetamine product. disorder, such as hypertrophic obstructive cardiomyopathy, which is
If satisfactory treatment results are not obtained with the 2nd stimulant, made worse by sympathomimetic agents. These events are rare but
clinicians may choose to prescribe atomoxetine, a noradrenergic reuptake nonetheless warrant consideration before initiating treatment and during
inhibitor that has been approved by the U.S. Food and Drug Administra- monitoring of therapy with stimulants. Children with a positive personal
tion (FDA) for the treatment of ADHD in children, adolescents, and or family history of cardiomyopathy, arrhythmias, or syncope require
adults. Atomoxetine should be initiated at a dose of 0.3 mg/kg/day and an electrocardiogram and possible cardiology consultation before a
titrated over 1-3 wk to a maximum total daily dosage of 1.2-1.4 mg/ stimulant is prescribed (Fig. 49.4).
kg/day. The dose should be divided into twice-daily portions. Once-daily
dosing appears to be associated with a high incidence of treatment PROGNOSIS
failure. Long-acting guanfacine and clonidine are also FDA approved A childhood diagnosis of ADHD often leads to persistent ADHD
for the treatment of ADHD (see Chapter 33). These medications can throughout the life span. From 60–80% of children with ADHD continue
also treat motor and vocal tics and so may be a reasonable choice in a to experience symptoms in adolescence, and up to 40–60% of adolescents
child with a comorbid tic disorder. Drugs to treat ADHD do not increase exhibit ADHD symptoms into adulthood. In children with ADHD, a
the incidence of tics in children predisposed to a tic disorder. In the reduction in hyperactive behavior often occurs with age. Other symptoms
past, tricyclic antidepressants have been used to treat ADHD, but TCAs associated with ADHD can become more prominent with age, such as
are rarely used now because of the risk of sudden death, particularly if inattention, impulsivity, and disorganization, and these exact a heavy
an overdose is taken. toll on young adult functioning. Risk factors in children with untreated
The clinician should consider careful monitoring of medication a ADHD as they become adults include engaging in risk-taking behaviors
necessary component of treatment in children with ADHD. When (sexual activity, delinquent behaviors, substance use), educational
physicians prescribe medications for the treatment of ADHD, they tend underachievement or employment difficulties, and relationship difficulties.
to use lower-than-optimal doses. Optimal treatment usually requires With proper treatment, the risks associated with ADHD, including
somewhat higher doses than tend to be found in routine practice settings. injuries, can be significantly reduced. Consistent treatment with medica-
All-day preparations are also useful to maximize positive effects and tion and adjuvant therapies appears to lower the risk of adverse outcomes,
minimize side effects, and regular medication follow-up visits should such as substance abuse.
be offered (≥4 times/yr) as opposed to the twice-yearly medication
visits often used in standard community care settings. PREVENTION
Medication alone may not be sufficient to treat ADHD in children, par- Parent training can lead to significant improvements in preschool
ticularly when children have multiple psychiatric disorders or a stressed children with ADHD symptoms, and parent training for preschool
home environment. When children do not respond to medication, it youth with ADHD can reduce oppositional behavior. To the extent that
may be appropriate to refer them to a mental health specialist. Consulta- parents, teachers, physicians, and policymakers support efforts for earlier
tion with a child psychiatrist, developmental-behavioral pediatrician, detection, diagnosis, and treatment, prevention of long-term adverse
or psychologist can also be beneficial to determine the next steps for effects of ADHD on affected children’s lives should be reconsidered
treatment, including adding other components and supports to the within the lens of prevention. Given the effective treatments for ADHD
overall treatment program. Evidence suggests that children who receive now available, and the well-documented evidence about the long-term
careful medication management, accompanied by frequent treatment effects of untreated or ineffectively treated ADHD on children and
follow-up, all within the context of an educative, supportive relationship youth, prevention of these consequences should be within the grasp
with the primary care provider, are likely to experience behavioral gains. of physicians and the children and families with ADHD for whom we
Stimulant drugs used to treat ADHD may be associated with an are responsible.
increased risk of adverse cardiovascular events, including sudden cardiac
death, myocardial infarction, and stroke, in young adults and rarely in Bibliography is available at Expert Consult.

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EPIDEMIOLOGY
Chapter 50 Dyslexia is the most common and most comprehensively studied of
the learning disabilities, affecting 80% of children identified as having a
Dyslexia learning disability. Dyslexia may be the most common neurobehavioral
disorder affecting children, with prevalence rates ranging from 20% in
unselected population-based samples to much lower rates in school-
Sally E. Shaywitz and Bennett A. Shaywitz identified samples. The low prevalence rate in school-identified samples
may reflect the reluctance of schools to identify dyslexia. Dyslexia occurs
with equal frequency in boys and girls in survey samples in which all
The most current definition of dyslexia is now codified in U.S. Federal children are assessed. Despite such well-documented findings, schools
law (First Step Act of 2018, PL: 115–391): “The term dyslexia means an continue to identify more boys than girls, probably reflecting the more
unexpected difficulty in reading for an individual who has the intelligence rambunctious behavior of boys who come to the teacher’s attention
to be a much better reader, most commonly caused by a difficulty in the because of misbehavior, while girls with reading difficulty, who are
phonological processing (the appreciation of the individual sounds of less likely to be misbehaving, are also less likely to be identified by the
spoken language), which affects the ability of an individual to speak, read, schools. Dyslexia fits a dimensional model in which reading ability
and spell.” In typical readers, development of reading and intelligence and disability occur along a continuum, with dyslexia representing the
quotient (IQ) are dynamically linked over time. In dyslexic readers, lower tail of a normal distribution of reading ability.
however, a developmental uncoupling occurs between reading and IQ
(Fig. 50.1), such that reading achievement is significantly below what PATHOGENESIS
would be expected given the individual’s IQ. The discrepancy between Evidence from a number of lines of investigation indicates that dyslexia
reading achievement and IQ provides the long-sought empirical evidence reflects deficits within the language system, and more specifically, within
for the seeming paradox between cognition and reading in individuals the phonologic component of the language system engaged in processing
with developmental dyslexia, and this discrepancy is now recognized the sounds of speech. Individuals with dyslexia have difficulty developing
in the Federal definition as unexpected difficulty in reading. an awareness that spoken words can be segmented into smaller elemental
units of sound (phonemes), an essential ability given that reading requires
ETIOLOGY that the reader map or link printed symbols to sound. Increasing evidence
Dyslexia is familial, occurring in 50% of children who have a parent indicates that disruption of attentional mechanisms may also play an
with dyslexia, in 50% of the siblings of dyslexic persons, and in 50% of important role in reading difficulties.
the parents of dyslexic persons. Such observations have naturally led Functional brain imaging in both children and adults with dyslexia
to a search for genes responsible for dyslexia, and at one point there demonstrates an inefficient functioning of left hemisphere posterior
was hope that heritability would be related to a small number of genes. brain systems, a pattern referred to as the neural signature of dyslexia
Genome-wide association studies (GWAS), however, have demonstrated (Fig. 50.2). Although functional magnetic resonance imaging (fMRI)
that a large number of genes are involved, each producing a small effect. consistently demonstrates differences between groups of dyslexic
Advances in genetics have confirmed what the GWAS suggested, that compared to typical readers, brain imaging is not able to differentiate
complex traits such as reading are the work of thousands of genetic an individual case of a dyslexic reader from a typical reader and thus
variants, working in concert (see Chapter 99). Thus, pediatricians should is not useful in diagnosing dyslexia.
be wary of recommending any genetic test to their patients that purports
to diagnose dyslexia in infancy or before language and reading have CLINICAL MANIFESTATIONS
even emerged. It is unlikely that a single gene or even a few genes will Reflecting the underlying phonologic weakness, children and adults
reliably identify people with dyslexia. Rather, dyslexia is best explained with dyslexia manifest problems in both spoken and written language.
by multiple genes, each contributing a small amount toward the expres- Spoken language difficulties are typically manifest by mispronunciations,
sion of dyslexia. lack of glibness, speech that lacks fluency with many pauses or hesitations

Typical: Dyslexia:
IQ-Reading Linked IQ-Reading Diverge

Nonimpaired Dyslexic

Fig. 50.2 A neural signature for dyslexia. The left side of the figure
IQ shows a schematic of left hemisphere brain systems in in typical (non-
Reading impaired) readers. The 3 systems for reading are an anterior system in
the region of the inferior frontal gyrus (Broca’s area), serving articulation
2 4 6 8 10 12 2 4 6 8 10 12 and word analysis, and 2 posterior systems, 1 in the occipitotemporal
region serving word analysis, and a 2nd in the occipitotemporal region
Grade in School
(the word-form area) serving the rapid, automatic, fluent identification
Fig. 50.1 Uncoupling of reading and IQ over time: empirical evidence of words. In dyslexic readers (right side of figure), the 2 posterior systems
for a definition of dyslexia. Left, In typical readers, reading and IQ are functioning inefficiently and appear underactivated. This pattern of
development are dynamically linked over time. Right, In contrast, reading underactivation in left posterior reading systems is referred to as the
and IQ development are dissociated in dyslexic readers, and one does neural signature for dyslexia. (Adapted from Shaywitz S: Overcoming
not influence the other. (Data adapted from Ferrer E, Shaywitz BA, dyslexia: a new and complete science-based program for reading
Holahan JM, et al: Uncoupling of reading and IQ over time: empirical problems at any level. New York, 2003, Alfred A. Knopf. Copyright
evidence for a definition of dyslexia, Psychol Sci 21(1):93–101, 2010.) 2003 by S. Shaywitz. Adapted with permission.)

Keywords
dyslexia
reading disability
phonological processing
learning disability
spelling
writing
language
accommodations
educational accommodations

and “ums,” word-finding difficulties with the need for time to summon psychometric assessment, if there are unexpected difficulties in reading
an oral response, and the inability to come up with a verbal response (based on the person’s intelligence, chronological/grade, level of education
quickly when questioned; these reflect sound-based, not semantic or or professional status) and associated linguistic problems at the level
knowledge-based, difficulties. of phonologic processing. No single test score is pathognomonic of
Struggles in decoding and word recognition can vary according to dyslexia. The diagnosis of dyslexia should reflect a thoughtful synthesis
age and developmental level. The cardinal signs of dyslexia observed of all clinical data available.
in school-age children and adults are a labored, effortful approach to Dyslexia is distinguished from other disorders that can prominently
reading involving decoding, word recognition, and text reading. Listen- feature reading difficulties by the unique, circumscribed nature of the
ing comprehension is typically robust. Older children improve reading phonologic deficit, one that does not intrude into other linguistic or
accuracy over time, but without commensurate gains in reading fluency; cognitive domains. A core assessment for the diagnosis of dyslexia in
they remain slow readers. Difficulties in spelling typically reflect the children includes tests of language, particularly phonology; reading,
phonologically based difficulties observed in oral reading. Handwriting including real and pseudowords; reading fluency; spelling; and tests
is often affected as well. of intellectual ability. Additional tests of memory, general language
History often reveals early subtle language difficulties in dyslexic skills, and mathematics may be administered as part of a more com-
children. During the preschool and kindergarten years, at-risk children prehensive evaluation of cognitive, linguistic, and academic function.
display difficulties playing rhyming games and learning the names for Some schools use a response to intervention (RtI) approach to identify-
letters and numbers. Kindergarten assessments of these language skills ing reading disabilities (see Chapter 51.1). Once a diagnosis has been
can help identify children at risk for dyslexia. Although a dyslexic child made, dyslexia is a permanent diagnosis and need not be reconfirmed
enjoys and benefits from being read to, the child might avoid reading by new assessments.
aloud to the parent or reading independently. For informal screening, in addition to a careful history, the primary
Dyslexia may coexist with attention-deficit/hyperactivity disorder (see care physician in an office setting can listen to the child read aloud
Chapter 49); this comorbidity has been documented in both referred from the child’s own grade-level reader. Keeping a set of graded readers
samples (40% comorbidity) and nonreferred samples (15% comorbidity). available in the office serves the same purpose and eliminates the need
for the child to bring in schoolbooks. Oral reading is a sensitive measure
DIAGNOSIS of reading accuracy and fluency. The most consistent and telling sign
A large achievement gap between typical and dyslexic readers is evident of a reading disability in an accomplished young adult is slow and
as early as 1st grade and persists (Fig. 50.3). These findings provide laborious reading and writing. In attempting to read aloud, most children
strong evidence and impetus for early screening and identification of and and adults with dyslexia display an effortful approach to decoding and
early intervention for young children at risk for dyslexia. One source of recognizing single words, an approach in children characterized by hesita-
potentially powerful and highly accessible screening information is the tions, mispronunciations, and repeated attempts to sound out unfamiliar
teacher’s judgment about the child’s reading and reading-related skills. words. In contrast to the difficulties they experience in decoding single
Evidence-based screening can be carried out as early as kindergarten, words, persons with dyslexia typically possess the vocabulary, syntax,
and also in grades 1-3, by the child’s teacher. The teachers’ responses to and other higher-level abilities involved in comprehension.
a small set of questions (10-12 questions) predict a pool of children who The failure either to recognize or to measure the lack of fluency in
are at risk for dyslexia with a high degree of accuracy. Screening takes reading is perhaps the most common error in the diagnosis of dyslexia
less than 10 minutes, is completed on a tablet, and is extremely efficient in older children and accomplished young adults. Simple word identifica-
and economical. Children found to be at-risk will then have further tion tasks will not detect dyslexia in a person who is accomplished
assessment and, if diagnosed as dyslexic, should receive evidence-based enough to be in honors high school classes or to graduate from college
intervention. or obtain a graduate degree. Tests relying on the accuracy of word
Dyslexia is a clinical diagnosis, and history is especially critical. identification alone are inappropriate to use to diagnose dyslexia because
The clinician seeks to determine through history, observation, and they show little to nothing of the struggle to read. Because they assess
reading accuracy but not automaticity (speed), the types of reading
tests used for school-age children might provide misleading data on
4 bright adolescents and young adults. The most critical tests are those
that are timed; they are the most sensitive in detecting dyslexia in a
3 bright adult. Few standardized tests for young adult readers are admin-
istered under timed and untimed conditions; the Nelson-Denny Reading
Test is an exception. The helpful Test of Word Reading Efficiency (TOWRE)
2 examines simple word reading under timed conditions. Any scores
obtained on testing must be considered relative to peers with the same
degree of education or professional training.
Reading

1
MANAGEMENT
The management of dyslexia demands a life-span perspective. Early in
0 life the focus is on remediation of the reading problem. Applying
knowledge of the importance of early language, including vocabulary
−1 Typical readers and phonologic skills, leads to significant improvements in children’s
Dyslexic readers reading accuracy, even in predisposed children. As a child matures and
enters the more time-demanding setting of middle and then high school,
−2 the emphasis shifts to the important role of providing accommodations.
Based on the work of the National Reading Panel, evidence-based reading
1 2 3 4 5 6 7 8 9 intervention methods and programs are identified. Effective intervention
Grade in school programs provide systematic instruction in 5 key areas: phonemic
awareness, phonics, fluency, vocabulary, and comprehension strategies.
Fig. 50.3 Reading from grades 1 through 9 in typical and dyslexic
readers. The achievement gap between typical and dyslexic readers is
These programs also provide ample opportunities for writing, reading,
evident as early as 1st grade and persists through adolescence. (Adapted and discussing literature.
from Ferrer E, Shaywitz BA, Holahan JM, et al: Achievement gap in Taking each component of the reading process in turn, effective
reading is present as early as first grade and persists through adolescence, interventions improve phonemic awareness: the ability to focus on and
J Pediatr 167:1121–1125, 2015.) manipulate phonemes (speech sounds) in spoken syllables and words.

Downloaded for Ahmed Manfy ([email protected]) at Egyptian Knowledge Bank from ClinicalKey.com by Elsevier on November 15, 2019.
For personal use only. No other uses without permission. Copyright ©2019. Elsevier Inc. All rights reserved.
The elements found to be most effective in enhancing phonemic aware-
ness, reading, and spelling skills include teaching children to manipulate
phonemes with letters; focusing the instruction on 1 or 2 types of phoneme
manipulations rather than multiple types; and teaching children in small
groups. Providing instruction in phonemic awareness is necessary but
not sufficient to teach children to read. Effective intervention programs
include teaching phonics, or making sure that the beginning reader
understands how letters are linked to sounds (phonemes) to form letter-
sound correspondences and spelling patterns. The instruction should
be explicit and systematic; phonics instruction enhances children’s success
in learning to read, and systematic phonics instruction is more effective
than instruction that teaches little or no phonics or teaches phonics
casually or haphazardly. Important but often overlooked is starting
children on reading connected text early on, optimally at or near the
beginning of reading instruction.
Fluency is of critical importance because it allows the automatic,
rapid recognition of words, and while it is generally recognized that
fluency is an important component of skilled reading, it has proved
difficult to teach. Interventions for vocabulary development and reading
comprehension are not as well established. The most effective methods
to teach reading comprehension involve teaching vocabulary and
strategies that encourage active interaction between the reader and the
text. Emerging science indicates that it is not only teacher content
knowledge but the teacher’s skill in engaging the student and focusing
the student’s attention on the reading task at hand that is required for
effective instruction.
For those in high school, college, and graduate school, provision of
accommodations most often represents a highly effective approach to
dyslexia. Imaging studies now provide neurobiologic evidence of the
need for extra time for dyslexic students; accordingly, college students
with a childhood history of dyslexia require extra time in reading and
writing assignments as well as examinations. Many adolescent and adult
students have been able to improve their reading accuracy, but without
commensurate gains in reading speed. The accommodation of extra
time reconciles the individual’s often high cognitive ability and slow
reading, so that the exam is a measure of that person’s ability rather
than his disability. Another important accommodation is teaching the
dyslexic student to listen to texts. Excellent text-to-speech programs
and apps available for Apple and Android systems include Voice Dream
Reader, Immersive Reader (in OneNote as part of Microsoft Office),
Kurzweil Firefly, Read & Write Gold, Read: OutLoud, and Natural Reader.
Voice-to-text programs are also helpful, often part of the suite of programs
as well as the popular Dragon Dictate. Voice to text is found on many
smartphones. Other helpful accommodations include the use of laptop
computers with spelling checkers, access to lecture notes, tutorial services,
and a separate quiet room for taking tests.
In addition, the impact of the primary phonologic weakness in dyslexia
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 problems accessing the sound
system of spoken language, causes great difficulty learning a 2nd language.
As a result, an often-necessary accommodation is a waiver or partial waiver
of the foreign language requirement; the dyslexic student may enroll in a
course on the history or culture of a non–English-speaking country.

PROGNOSIS
Application of evidence-based methods to young children (kindergarten
to grade 3), when provided with sufficient intensity and duration, can
result in improvements in reading accuracy and, to a much lesser extent,
fluency. In older children and adults, interventions result in improved
accuracy, but not an appreciable improvement in fluency. Accommoda-
tions are critical in allowing the dyslexic child to demonstrate his or her
knowledge. Parents should be informed that with proper support, dyslexic
children can succeed in a range of future occupations that might seem
out of their reach, including medicine, law, journalism, and writing.

Bibliography is available at Expert Consult.

Bibliography the phonological processing (the appreciation of the individual sounds of spoken
Ferrer E, Shaywitz BA, Holahan JM, et al: Uncoupling of reading and IQ over time: language), which affects the ability of an individual to speak, read, and spell.”
empirical evidence for a definition of dyslexia, Psychol Sci 21(1):93–101, 2010. Shaywitz SE: Shaywitz DyslexiaScreen. The Shaywitz DyslexiaScreen is an efficient,
Ferrer E, Shaywitz BA, Holahan JM, et al: Achievement gap in reading is present as reliable, and user-friendly dyslexia test for K-1. This screening tool identifies students
early as first grade and persists through adolescence, J Pediatr 167:1121–1125, 2015. who are at risk for dyslexia. Available from Pearson Clinical.
Herrera-Araujo D, Shaywitz BA, Holahan JM, et al: Evaluating willingness to pay as Shaywitz SE, Shaywitz BA: Dyslexia (specific reading disability), Biol Psychiatry
a measure of the impact of dyslexia in adults, J Benefit Cost Anal 8(1):4–48, 2017. 57:1301–1309, 2005.
Hulme C, Snowling MJ: Reading disorders and dyslexia, Curr Opin Pediatr 28:731–735, Shaywitz BA, Weiss LG, Saklofske DH, Shaywitz SE: Translating scientific progress
2016. in dyslexia into 21st century diagnosis and interventions. In Weiss LG, Saklofske
National Reading Panel: Teaching children to read: an evidence based assessment of the DH, Holdnack JA, Prifitera A, editors: WISC-V Clinical use and interpretation: a
scientific research literature on reading and its implications for reading instruction, scientist-practitioner perspective, San Diego, 2016, Elsevier, pp 269–286.
NIH Pub No 00-4754, Bethesda, MD, 2000, US Department of Health and Human Shaywitz S, Shaywitz B, Wietecha L, et al: Effect of atomoxetine treatment on reading
Services, Public Health Service, National Institutes of Health, National Institute of and phonological skills in children with dyslexia or attention-deficit/hyperactivity
Child Health and Human Development. disorder and comorbid dyslexia in a randomized, placebo-controlled trial, J Child
Romberg F, Shaywitz BA, Shaywitz SE: How should medical schools respond to students Adolesc Psychopharmacol 27(1):19–28, 2017.
with dyslexia?, AMA J Ethics 18(10):975–984, 2016. US Senate Resolution 576: Calling on Congress, schools, and State and local educational
First Step Act of 2018, 115th Congress (2017-2018), Public Law No: 115-391, defined agencies to recognize the significant educational implications of dyslexia that must
dyslexia as “an unexpected difficulty in reading for an individual who has the be addressed, Washington, DC, 2016, 114th Congress, 2nd Session ed.
intelligence to be a much better reader, most commonly caused by a difficulty in

Chapter 51
Math and Writing
Disabilities
51.1 Math Disabilities
Kenneth L. Grizzle

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. These
percentages are considerably higher than those for 20 years earlier.
However, concerns remain about the limited literacy level in mathematics
for children, adolescents, and those entering the workforce; poor math
skills predict numerous social, employment, and emotional challenges.
The need for number and math literacy extends beyond the workplace
and into daily lives, and weaknesses in this area can negatively impact
daily functioning. Research into the etiology and treatment of math
disabilities falls far behind the study of reading disabilities (see Chapter
50). Therefore the knowledge needed to identify, treat, and minimize
the impact of math challenges on daily functioning and education is
limited.

MATH LEARNING DISABILITY DEFINED

Understanding learning challenges associated with mathematics requires
a basic appreciation of domain-specific terminology and operations.
The Diagnostic and Statistical Manual for Mental Disorders, Fifth Edition
(DSM-5) has published diagnostic criteria for learning disorders. Specific
types of learning challenges are subsumed under the broad term of
specific learning disorder (SLD). The DSM identifies the following
features of a SLD with an impairment in math: difficulties mastering
number sense, number facts, or fluent calculation and difficulties with
math reasoning. Symptoms must be present for a minimum of 6 mo
and persist despite interventions to address the learning challenges.
Number sense refers to a basic understanding of quantity, number, and
operations and is represented as nonverbal and symbolic. Examples of
number sense include an understanding that each number is 1 more
or 1 less than the previous or following number; knowledge of number
words and symbols; and the ability to compare the relative magnitude
of numbers and perform simple arithmetic calculations.
The DSM-5 definition can be contrasted with an education-defined
learning disability in mathematics. Two math-related areas are identified
as part of the Individuals with Disabilities Education Act (IDEA):
mathematics calculation and mathematics problem solving. Operationally,
this is reflected in age-level competency in arithmetic and math calcula-
tion, word problems, interpreting graphs, understanding money and
time concepts, and applying math concepts to solve quantitative problems.
The federal government allows states to choose the way a learning
disability (LD) is identified if the procedure is “research based.” Referred
to specifically in IDEA as methods for identifying an LD are a discrepancy
model and “use of a process based on the child’s response to scientific,
research-based intervention.” The former refers to identifying a LD
based on a pronounced discrepancy between intellectual functioning
and academic achievement. The latter, referred to as a response to
intervention (RtI) model, requires school systems to screen for a
disability, intervene using empirically supported treatments for the
identified disability, closely monitor progress, and make necessary
adjustments to the intervention as needed. If a child is not responding
adequately, a multidisciplinary team evaluation is used to develop an
individualized educational plan (IEP).
It is important that primary care providers understand the RtI process
because many states require or encourage this approach to identifying
LDs. Confusion can be avoided by helping concerned parents under-
stand that a school may review their child’s records, screen the skills

Keywords
dyscalculia
math disability
Individual with Disabilities Education Act
IDEA
individualized education plan
IEP
response to intervention
specific learning disorder with impairment in mathematics

of concern, and provide intervention with close progress monitoring, math problem solving. Older children with 22q11.2ds showed slower
before initiating the process for an IEP. Traditional psychoeducation speed in their general number sense and calculations, but accuracy
testing (IQ and achievement) may only be completed if a child has not was maintained. Weak counting skills and magnitude comparison have
responded well to specific interventions. The RtI approach is a valuable, been found in this group of children, suggesting weak visual-spatial
empirically supported way to approach and identify a potential learn- processing. Children with myelomeningocele are at greater risk for math
ing disability, but very different from a medical approach to diagnosis difficulties than their unaffected peers. Almost 30% of these children
and treatment. have MLD without an additional diagnosed learning disorder, and
>50% have both math and reading learning disorders. While broad,
Terminology deficits are most pronounced in speed of math calculation and written
The term dyscalculia, often used in medicine and research but seldom 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 reading
generically here, with dyscalculia used when limiting the discussion disability. This is especially important because children with MLD are
to children with deficient math calculation skills. A distinction is also less likely to be referred for additional educational assistance and
made between children with a MLD and those who are low achiev- intervention than students with reading problems. Unfortunately, children
ing (LA) in math; both groups have received considerable research identified with both learning challenges perform poorer across
focus. Although not included in either definition above, research psychosocial and academic measures than children with MLD alone.
into math deficits typically requires that individuals identified with Having a MLD places a child at greater risk for not only other learning
MLD have math achievement scores below the 10th percentile across challenges but also psychiatric disorders, including attention-deficit/
multiple grade levels. These children start out poorly in math and hyperactivity disorder, oppositional defiant disorder, conduct disorder,
continue poor performance across grades, despite interventions. LA generalized anxiety disorder, and major depressive disorder. Individuals
math students consistently score below the 25th percentile on math with MLD have been found to have increased social isolation and
achievement tests across grades, but show more typical entry-level difficulties developing social relationships in general.
math skills.
CAUSES OF MATH LEARNING DISABILITY
EPIDEMIOLOGY There is a consensus that individuals with MLD are a heterogeneous
Prevalence group, with multiple potential broad and specific deficits driving their
Depending on how MLD is defined and assessed, the prevalence varies. learning difficulties. Research into the causes of MLD has focused on
Based on findings from multiple studies, approximately 7% of children math-specific processes and broad cognitive deficits, with an appreciation
will show a MLD profile before high school graduation. An additional that these two factors are not always independent.
10% of students will be identified as LA. Because research in the area
typically requires that individuals show deficits for consecutive years, Broad Cognitive Processes
the respective prevalence estimates are lower than the 10th percentile Intelligence
cutoff for being identified as MLD or the 25th percentile cutoff for Intelligence affects learning, but if intellectual functioning were the
being identified as LA. It is not unusual for children to score below the primary driver of poor math performance, the math skills of low-IQ
criterion one year and above the criterion in subsequent years. These children would be similar or worse than individuals with MLD. On
children do not show the same cognitive deficits associated with a MLD. the contrary, children with MLD have significantly poorer math
Unlike dyslexia, boys are at greater risk to experience MLD. This is achievement than children with low IQ. Children with MLD have
found in epidemiologic research in the United States (risk ratio, 1.6-2.2 : 1) severe deficits in math not accounted for by their cognitive functioning.
and various European countries. Individuals with lower cognition may have difficulty learning math-
ematics, but their math skills are likely to be commensurate with their
Risk Factors intelligence.
Genetics
The heritability of math skills is estimated to be approximately Working Memory
0.50. The heritability or genetic influence on math skills is consistent Working memory refers to the ability to keep information in mind
across the continuum from high to low math skills. This research while using the information in other mental processes. Working memory
emphasizes that although math skills are learned across time, the stability is composed of 3 core systems: the central executive, the language-related
of math performance is the result of genetic influences. Math heritability phonologic loop, and the visual-based sketch pad. The central executive
appears to be the product of multiple genetic markers, each having a coordinates the functioning of the other two systems. All three play a
small effect. role in various aspects of learning and in the development and application
of math skills in particular; children with MLD have shown deficits in
Medical/Genetic Conditions each area.
Numerous genetic syndromes are associated with math problems.
Although most children with fragile X syndrome have an intellectual Processing Speed
disability (ID), approximately 50% of girls with the condition do not. Individuals with MLD are often slower to complete math problems
Of those without an ID, ≥75% have a math disability by the end of than their typically developing peers, a result of their poor fact retrieval
3rd grade and are already scoring below average in mathematics in rather than broader speed of processing deficits. However, young
kindergarten and 1st grade. For girls with fragile X MLD, weak working children later identified with a MLD when beginning school have
memory seems to play an important role. The frequency of MLD in number-processing speed that is considerably slower than same-age
girls with Turner syndrome (TS) is the same as found in girls with same-grade peers.
fragile X syndrome. A consistent finding is girls with TS complete math
calculations at significantly slower speed than typically developing Math-Specific Processes
students. Although girls with TS have weak calculation skills, their Procedural Errors
ability to complete math problems not requiring explicit calculation The type of errors made by children with a MLD are typical for any
is similar to that of their peers. The percentage of children with the child, the difference being that children with a learning disability show
22q11.2 deletion syndrome (22q11.2ds) with MLD is not clear. Younger a 2-3 yr lag in understanding the concept. An example of a common
children with this genetic condition (6-10 yr old) showed similar number error a 1st grade child with a MLD might make when “counting on” is
sense and calculation skills as typically developing children but weaker to undercount: “6 + 2= ?;” “6, 7” rather than starting at 6 and counting

Table 51.1 Parent Resources for the Child With Math Table 51.2 Risk Factors for a Specific Learning Disability
Learning Disability Involving Mathematics
Let’s Talk About Math. Available from: http://www.zerotothree.org/ The child is at or below the 20th percentile in any math area, as
parenting-resources/early-math-video-series. Accessed January 2, reflected by standardized testing or ongoing measures of
2017. progress monitoring.
Mixing in Math. Available from: https://mixinginmath.terc.edu/ The teacher expresses concerns about the child’s ability to “take
aboutMiM/what_isMiM.php. Accessed January 2, 2017. the next step” in math.
PBS Parents. Math resources available to parents through the There is a positive family history for math learning disability (this
Public Broadcasting Service website. Accessed January 28, 2017: alone will not initiate an intervention).
http://www.pbs.org/parents/earlymath/index.html Parents think they have to “reteach” math concepts to their child.
http://www.pbs.org/parents/education/math/
US Department of Education: Helping your child learn mathematics.
Available from: https://www2.ed.gov/parents/academic/help/
math/index.html. Accessed January 28, 2017.

factors outlined in Table 51.2 should encourage the parents to discuss

an intervention plan with the child’s teacher.

Bibliography is available at Expert Consult.

an additional 2 numbers. As children with math deficits get older, it is
common to subtract a larger number from a smaller number. For example,
in the problem “63 − 29 = 46,” the child makes the mistake of subtracting
3 from 9. Another common error is not decreasing the number in the 51.2 Writing Disabilities
10s column when borrowing: “64 − 39 = 35.” For both adding and Kenneth L. Grizzle
subtracting, there is a lack of understanding of the commutative property
of numbers and a tendency to use repeated addition rather than Oral language is a complex process that typically develops in the absence
fact retrieval. It is not that children with a MLD do not develop these of formal instruction. In contrast, written language requires instruction
skills, it is that they develop them much later than their peers, thereby in acquisition (word reading), understanding (reading comprehension),
making the transition to complicated math concepts much more and expression (spelling and composition). Unfortunately, despite
challenging. reasonable pedagogy, a subset of children struggle with development
in one or several of these areas. The disordered output of written language
Memory for Math Facts is currently referred to within the Diagnostic and Statistical Manual for
Committing math facts to or retrieving facts from memory have Mental Disorders, Fifth Edition (DSM-5) as a specific learning disorder
consistently been found to be problematic for children with MLD. Weak with impairment in written expression (Table 51.3).
fact encoding or retrieval alone do not determine a MLD diagnosis. Various terminology has been used when referring to individuals
Many math curricula in the United States do not include development with writing deficits; this subchapter uses the term impairment in
of math facts as a part of the instructional process, resulting in children written expression (IWE) rather than “writing disorder” or “disorder
not knowing basic facts. of written expression.” Dysgraphia is often used when referring to
Unlike dyslexia, in which deficits have been isolated and identified children with writing problems, sometimes synonymously with IWE,
as causal (see Chapter 50), factors involved in the development of a although the two are related but distinct conditions. Dysgraphia is
MLD are much more heterogeneous. Alone, none of the processes primarily a deficit in motor output (paper/pencil skills), and IWE is a
previously outlined fully accounts for MLD, although all have been conceptual weakness in developing, organizing, and elaborating on ideas
implicated as problematic for those struggling with math. in writing.
The diagnoses of a IWE and dysgraphia are made largely based on
TREATMENT AND INTERVENTIONS phenotypical presentation; spelling, punctuation, grammar, clarity, and
The most effective interventions for MLD are those that include explicit organization are factors to consider with IWE concerns. Aside from
instruction on solving specific types of problems and that take place these potentially weak writing characteristics, however, no other
over several weeks to several months. Skill-based instruction is a critical guidelines are offered. Based on clinical experience and research into
component; general math problem solving will not carry over across the features of writing samples of children with disordered writing
various math skills, unless the skill is part of a more complex math skills, one would expect to see limited output, poor organization, repeti-
concept. Clear, comprehensive guidelines for effective interventions for tion of content, and weak sentence structure and spelling, despite the
students struggling with math have been provided by the U.S. Department child taking considerable time to produce a small amount of content.
of Education in the form of a Practice Guide released through the What For those with comorbid dysgraphia, the legibility of their writing product
Works Clearinghouse. This document gives excellent direction in the will also be poor, sometimes illegible.
identification and treatment of children with math difficulties in the
educational system. Although not intended for medical personnel or EPIDEMIOLOGY
parents, the guide is available free of charge and can be helpful for The incidence of IWE is estimated at 6.9–14.7%, with the relative risk
parents when talking to teachers about their child’s learning. Table 51.1 for IWE 2-2.9 times higher for boys than girls. One study covering
lists additional resources for parents concerned about their young child’s three U.S. geographic regions found considerably higher rates of IWE
development of math facts. in the Midwest and Southeast than in the West.
Awareness that most public school systems have implemented some The risk for writing problems is much greater among select popula-
form of a RtI to identify learning disabilities allows the primary care tions; >50% of children with oral language disorders reportedly have
physician to encourage parents to return to the school seeking an IWE. The relationship between attention-deficit/hyperactivity disorder
intervention to address their child’s concern. Receiving special education (ADHD) and learning disorders in general is well established, includ-
services in the form of an IEP may be necessary for some children. ing IWE estimates in the 60% range for the combined and inattentive
However, the current approach to identifying children with a learning presentations of ADHD. Because of the importance of working memory
disability allows school systems to intervene earlier, when problems and other executive functions in the writing process, any child with
arise, and potentially avoid the need for an IEP. Pediatricians with patients weakness in these areas will likely find the writing process difficult
whose parents have received feedback from school with any of the risk (see Chapter 48).

Bibliography Mazzocco M: Mathematics awareness month: why should pediatricians be aware of

Bartelet D, Ansari D, Vaessen A, Blomert L: Cognitive subtypes of mathematics learning mathematics and numeracy? J Dev Behav Pediatr 37:251–253, 2016.
difficulties in primary education, Res Dev Disabil 35(3):657–670, 2014. Mazzocco MM, Quintero AI, Murphy MM, McCloskey M: Genetic syndromes as
Chodura S, Kuhn JT, Holling H: Interventions for children with mathematical difficulties: model pathways to mathematical learning difficulties: fragile X, Turner and 22q
a meta-analysis, Z Psychol 223(2):129–144, 2015. deletion syndromes. In Berch DB, Geary DC, Koepke KM, editors: Development
Docherty SJ, Davis OSP, Kovas Y, et al: Genome-wide association study identifies of mathematical cognition: neural substrates and genetic influences, New York, 2016,
multiple loci associated with mathematics ability and disability, Genes Brain Behav Elsevier, pp 325–357.
9:234–247, 2010. Petrill SA, Kovas Y: Individual differences in mathematics ability: a behavioral
Geary DC: Mathematical cognition deficits in children with learning disabilities and genetic approach. In Berch DB, Geary DC, Koepke KM, editors: Development of
persistent low achievement: a five-year prospective study, J Educ Psychol 104(1): mathematical cognition: neural substrates and genetic influences, New York, 2016,
206–223, 2012. Elsevier, pp 299–324.
Kaufman L, Mazzocco MM, Dowker A, et al: Dyscalculia from a developmental and Shin MS, Bryant DP: A synthesis of mathematical and cognitive performances of
differential perspective, Front Psychol 4:1–5, 2013. students with mathematics learning disabilities, J Learn Disabil 48:96–112, 2015.
Kucian K: Developmental dyscalculia and the brain. In Berch DB, Geary DC, Koepke
KM, editors: Development of mathematical cognition: neural substrates and genetic
influences, New York, 2016, Elsevier, pp 165–193.

Keywords
dysgraphia
transcription
specific language impairment
pragmatic language
higher-level language
executive functions
working memory
504 plan
individual education plan

Transcription
Table 51.3 DSM-5 Diagnostic Criteria for Specific Among preschool and primary grade children, there is a wide range
Learning Disability With Impairment in of what is considered “developmentally typical” as it relates to letter
Written Expression production and spelling. However, evidence indicates that poor writers
A. Difficulties learning and using academic skills that have persisted in later grades are slow to produce letters and write their name in
for at least 6 mo, despite the provision of interventions that preschool and kindergarten. Weak early spelling and reading skills (letter
target those difficulties. identification and phonologic awareness; see Chapter 50) and weak oral
Difficulties with written expression (e.g., makes multiple language have also been found to predict weak writing skills in later
grammatical or punctuation errors within sentences; employs elementary grades. Children struggling to master early transcription
poor paragraph organization; written expression of ideas lacks skills tend to write slowly, or when writing at reasonable speed, the
clarity). legibility of their writing degrades. Output in quantity and variety is
B. The affected academic skills are substantially and quantifiably limited, and vocabulary use in poor spellers is often restricted to words
below those expected for the individual’s chronological age,
and cause significant interference with academic or occupational
they can spell.
performance, or with activities of daily living, as confirmed by As children progress into upper elementary school and beyond, a
individually administered standardized achievement measures new set of challenges arise. They are now expected to have mastered
and comprehensive clinical assessment. For individuals age 17 yr lower-level transcription skills, and the focus turns to the application
and older, a documented history of impairing learning difficulties of these skills to more complex text generation. In addition to transcrip-
may be substituted for the standardized assessment. tion, this next step requires the integration of additional cognitive skills
C. The learning difficulties begin during school-age years but may that have yet to be tapped by young learners.
not become fully manifest until the demands for those affected
academic skills exceed the individual’s limited capacities (e.g., as Oral Language
in timed tests, reading or writing lengthy complex reports for a
tight deadline, excessively heavy academic loads).
Language, although not speech, has been found to be related to writing
D. The learning difficulties are not better accounted for by skills. Writing difficulties are associated with deficits in both expression
intellectual disabilities, uncorrected visual or auditory acuity, and comprehension of oral language. Writing characteristics of children
other mental or neurologic disorders, psychosocial adversity, with specific language impairment (SLI) can differ from their unim-
lack of proficiency in the language of academic instruction, or paired peers early in the school experience, and persist through high
inadequate educational instruction. school (see Chapter 52). In preschool and kindergarten, as a group,
315.2 (F81.81) With impairment in written expression: children with language disorders show poorer letter production and
Spelling accuracy ability to print their name. Poor spelling and weak vocabulary also
Grammar and punctuation accuracy contribute to the poor writing skills. Beyond primary grades, the written
Clarity or organization of written expression
Specify current severity:
narratives of SLI children tend to be evaluated as “lower quality with
Mild: Some difficulties learning skills in 1 or 2 academic domains, poor organization” and weaker use of varied vocabulary.
but of mild enough severity that the individual may be able to Pragmatic language and higher-level language deficits also negatively
compensate or function well when provided with appropriate impact writing skills. Pragmatic language refers to the social use of
accommodations or support services, especially during the language, including, though not limited to greeting and making requests;
school years. adjustments to language used to meet the need of the situation or
Moderate: Marked difficulties learning skills in ≥1 academic listener; and following conversation rules verbally and nonverbally.
domain(s), so that the individual is unlikely to become proficient Higher-level language goes beyond basic vocabulary, word form, and
without some intervals of intensive and specialized teaching grammatical skills and includes making inferences, understanding and
during the school years. Some accommodations or supportive
services at least part of the day at school, in the workplace, or at
appropriately using figurative language, and making cause-and-effect
home may be needed to complete activities accurately and judgments. Weaknesses in these areas, with or without intact foundational
efficiently. language, can present challenges for students in all academic areas that
Severe: Severe difficulties learning skills, affecting several academic require writing. For example, whether producing an analytic or narrative
domains, so that the individual is unlikely to learn those skills piece, the writer must understand the extent of the reader’s background
without ongoing intensive individualized and specialized knowledge and in turn what information to include and omit, make an
teaching for most of the school years. Even with an array of argument for a cause-and-effect relationship, and use content-specific
appropriate accommodations or services at home, at school, or vocabulary or vocabulary rich in imagery and nonliteral interpretation.
in the workplace, the individual may not be able to complete all
activities efficiently.
Executive Functions
Adapted from the Diagnostic and Statistical Manual of Mental Disorders, Fifth Writing is a complicated process and, when done well, requires the
Edition, (Copyright 2013). American Psychiatric Association, pp 66–67. effective integration of multiple processes. Executive functions (EFs)
are a set of skills that include planning, problem solving, monitoring
and making adjustments as needed (see Chapter 48). Three recursive
SKILL DEFICITS ASSOCIATED WITH processes have consistently been reported as involved in the writing
IMPAIRED WRITING process: translation of thought into written output, planning, and review-
Written language, much like reading, occurs along a developmental ing. Coming up with ideas, while challenging for many, is simply the
trajectory that can be seamless as children master skills critical to the first step when writing a narrative (story). Once an idea has emerged,
next step in the process. Mastery of motor control that allows a child the concept must be developed to include a plot, characters, and story
to produce letters and letter sequences frees up cognitive energy to line and then coordinated into a coherent whole that is well organized
devote to spelling words and eventually stringing words into sentences, and flows from beginning to end. Even if one develops ideas and begins
paragraphs, and complex composition. Early in the development of to write them down, persistence is required to complete the task, which
each individual skill, considerable cognitive effort is required, although requires self-regulation. Effective writers rely heavily on EFs, and children
ideally the lower-level skills of motor production, spelling, punctuation, with IWE struggle with this set of skills. Poor writers seldom engage in
and capitalization (referred to as writing mechanics or writing conven- the necessary planning and struggle to self-monitor and revise effectively.
tions) will gradually become automatic and require progressively less
mental effort. This effort can then be devoted to higher-level skills, such Working Memory
as planning, organization, application of knowledge, and use of varied Working memory (WM) refers to the ability to hold, manipulate, and
vocabulary. For children with writing deficits, breakdowns can occur store information for short periods. The more space available, the
at one, some, or every stage. more memory can be devoted to problem solving and thinking tasks.

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Text Generation with learning disorders, all components of writing should be taught
(Words, sentences, discourse) within the same lesson.
Explicit instruction of writing strategies combined with implementation
and coaching in self-regulation will likely produce the greatest gains
for students with writing deficits. Emphasis will vary depending on the
deficit specific to the child. A well-researched and well-supported
intervention for poor writers is self-regulated strategy development
(SRSD). The 6 stages in this model include developing and activating
a child’s background knowledge; introducing and discussing the strategy
Working Memory
that is being taught; modeling the strategy for the student; assisting the
child in memorization of the strategy; supporting the child’s use of the
strategy during implementation; and independent use of the strategy.
SRSD can be applied across various writing situations and is supported
until the student has developed mastery. The model can emphasize or
Transcription Executive Functions deemphasize the areas most needed by the child.
(Handwriting, keyboarding, (Conscious attention,
spelling) planning, reviewing, Educational Resources
revising, strategies Children with identified learning disorders can potentially qualify for
for self-regulation) formal education programming through special education or a section
504 plan. Special education is guided on a federal level by the Individual
Fig. 51.1 Simple view of writing. (From Berninger VW: Preventing with Disabilities Education Act (IDEA) and includes development of
written expression disabilities through early and continuing assessment
and intervention for handwriting and/or spelling problems: research an individual education plan (see Chapter 48). A 504 plan provides
into practice. In Swanson HL, Harris KR, Graham S, editors: Handbook accommodations to help children succeed in the regular classroom.
of learning disabilities, New York, 2003, The Guilford Press.) Accommodations that might be provided to a child with IWE, through
an IEP or a 504 plan, include dictation to a scribe when confronted
with lengthy writing tasks, additional time to complete exams that require
writing, and use of technology such as keyboarding, speech-to-text
Nevertheless, there is limited space in which information can be held, software, and writing devices that record teacher instruction. When
and the more effort devoted to one task, the less space is available to recommending that parents pursue assistive technology for their child
devote to other tasks. WM has consistently been shown to play an as a potential accommodation, the physician should emphasize the
important role in the writing process, because weak WM limits the importance of instruction to mastery of the device being used. Learning
space available. Further, when writing skills that are expected to be to use technology effectively requires considerable time and is initially
automatic continue to require effort, precious memory is required, taking likely to require additional effort, which can result in frustration and
away what would otherwise be available for higher-level language. avoidance.
The Simple View of Writing is an approach that integrates each of the
4 ideas just outlined to describe the writing process (Fig. 51.1). At the Bibliography is available at Expert Consult.
base of the triangle are transcription and executive functions, which
support, within WM, the ability to produce text. Breakdowns in any of
these areas can lead to poor writing, and identifying where the deficit(s)
are occurring is essential when deciding to treat the writing problem.
For example, children with weak graphomotor skills (e.g., dysgraphia)
must devote considerable effort to the accurate production of written
language, thereby increasing WM use devoted to lower-level transcription
and limiting memory that can be used for developing discourse. The
result might be painfully slow production of a legible story, or a passage
that is largely illegible. If, on the other hand, a child’s penmanship and
spelling have developed well, but their ability to persist with challenging
tasks or to organize their thoughts and develop a coordinated plan for
their paper is limited, one might see very little information written on
the paper despite considerable time devoted to the task. Lastly, even
when skills residing at the base of this triangle are in place, students
with a language disorder will likely produce text that is more consistent
with their language functioning than their chronological grade or age
(Fig. 51.1).

TREATMENT
Poor writing skills can improve with effective treatment. Weak graphomo-
tor skills may not necessarily require intervention from an occupational
therapist (OT), although Handwriting Without Tears is a curriculum
frequently used by OTs when working with children with poor penman-
ship. An empirically supported writing program has been developed
by Berninger, but it is not widely used inside or outside school systems
(PAL Research-Based Reading and Writing Lessons). For children with
dysgraphia, lower-level transcription skills should be emphasized to
the point of becoming automatic. The connection between transcription
skills and composition should be included in the instructional process;
that is, children need to see how their work at letter production is
related to broader components of writing. Further, because of WM
constraints that frequently impact the instructional process for students

Bibliography Graham S, Harris KR: Writing better: effective strategies for teaching students with
Andrews JE, Lombardino LJ: Strategies for teaching handwriting to children with learning difficulties, Baltimore, 2005, Paul H Brookes Publishing.
writing disabilities, Perspect Lang Learn Educ 21:114–126, 2014. Katusic SK, Colligan RC, Weaver AL, Barbaresi WJ: The forgotten learning disability:
Berninger VW: Preventing written expression disabilities through early and continuing epidemiology of written-language disorder in a population-based birth cohort
assessment and intervention for handwriting and/or spelling problems: research (1976-1982), Rochester, Minnesota, Pediatrics 123(5):1306–1313, 2009.
into practice. In Swanson HL, Harris KR, Graham S, editors: Handbook of learning Paul R, Norbury C: Language disorders from infancy through adolescence: listening,
disabilities, New York, 2003, The Guilford Press, pp 35–363. speaking, reading, writing, and communicating, St Louis, 2012, Elsevier.
Berninger VW: Process assessment of the learner (PAL): research-based reading and Silliman ER, Berninger VW: Cross-disciplinary dialogue about the nature of oral
writing lessons, San Antonio, TX, 2003, Psychological Corporation. and written language problems in the context of developmental, academic, and
Berninger VW: Interdisciplinary frameworks for schools: best professional practices for phenotypic profiles, Top Lang Disord 31:6–23, 2011.
serving the needs of all students, Washington, DC, 2015, American Psychological Stoeckel RE, Colligan RC, Barbaresi WJ, et al: Early speech-language impairment
Association. and risk for written language disorder: a population-based study, J Dev Behav
Berninger VW, May MO: Evidence-based diagnosis and treatment for specific learning Pediatr 34(1):38–44, 2013.
disabilities involving impairments in written and/or oral language, J Learn Disabil Sun L, Wallach GP: Language disorders are learning disabilities: challenges on the
44(2):167–183, 2011. divergent and diverse paths to language learning disability, Top Lang Disord
Dockrell JE: Developmental variations in the production of written text: challenges for 34:25–38, 2014.
students who struggle with writing. In Stone CA, Silliman ER, Ehren BJ, Wallach Williams GJ, Larkin RF, Blaggan S: Written language skills in children with specific
GP, editors: Handbook of language and literacy, ed 2, New York, 2014, The Guilford language impairment, Int J Lang Commun Disord 48(2):160–171, 2013.
Press, pp 505–523.
Dockrell JE, Lindsay G, Connelly V: The impact of specific language impairment on
adolescents’ written text, Except Child 75(4):427–446, 2009.

Chapter 52
Language Development
and Communication
Disorders
Mark D. Simms

Most children learn to communicate in their native language without

specific instruction or intervention other than exposure to a language-rich
environment. Normal development of speech and language is predicated
on the infant’s ability to hear, see, comprehend, remember, and socially
interact with others. The infant must also possess sufficient motor skills
to imitate oral motor movements.

NORMAL LANGUAGE DEVELOPMENT

Language can be subdivided into several essential components. Com-
munication consists of a wide range of behaviors and skills. At the
level of basic verbal ability, phonology refers to the correct use of speech
sounds to form words, semantics refers to the correct use of words,
and syntax refers to the appropriate use of grammar to make sentences.
At a more abstract level, verbal skills include the ability to link thoughts
together coherently and to maintain a topic of conversation. Pragmatic
abilities include verbal and nonverbal skills that facilitate the exchange
of ideas, including the appropriate choice of language for the situation

Keywords
communication
phonology
semantics
syntax
pragmatics
receptive language development
expressive language development
specific language impairment
SLI
developmental dysphasia
social (pragmatic) communication disorder
SPCD
autism spectrum disorder
ASD
autistic regression
Asperger syndrome
selective mutism
anxiety disorder
isolated expressive language disorder
dysarthria
childhood apraxia of speech
speech sound disorder
hydrocephalus
hyperlexia
Landau-Kleffner syndrome
verbal auditory agnosia

Table 52.1 Normal Language Milestones: Birth to 5 Years

HEARING AND UNDERSTANDING TALKING
BIRTH TO 3 MONTHS
Startles to loud sounds Makes pleasure sounds (cooing, gooing)
Quiets or smiles when spoken to Cries differently for different needs
Seems to recognize your voice and quiets if crying Smiles when sees you
Increases or decreases sucking behavior in response to sound
4-6 MONTHS
Moves eyes in direction of sounds Babbling sounds more speech-like, with many different sounds, including
Responds to changes in tone of your voice p, b, and m
Notices toys that make sounds Vocalizes excitement and displeasure
Pays attention to music Makes gurgling sounds when left alone and when playing with you
7 MONTHS TO 1 YEAR
Enjoys games such as peek-a-boo and pat-a-cake Babbling has both long and short groups of sounds, such as tata upup
Turns and looks in direction of sounds bibibibi.
Listens when spoken to Uses speech or noncrying sounds to get and keep attention
Recognizes words for common items, such as cup, shoe, and juice Imitates different speech sounds
Begins to respond to requests (Come here; Want more?) Has 1 or 2 words (bye-bye, dada, mama), although they might not be
clear
1-2 YEARS
Points to a few body parts when asked Says more words every month
Follows simple commands and understands simple questions Uses some 1-2 word questions (Where kitty? Go bye-bye? What’s that?)
(Roll the ball; Kiss the baby; Where’s your shoe?) Puts 2 words together (more cookie, no juice, mommy book)
Listens to simple stories, songs, and rhymes Uses many different consonant sounds at the beginning of words
Points to pictures in a book when named
2-3 YEARS
Understands differences in meaning (e.g., go–stop, in–on, Has a word for almost everything
big–little, up–down) Uses 2-3 word “sentences” to talk about and ask for things
Follows 2-step requests (Get the book and put it on the table.) Speech is understood by familiar listeners most of the time
Often asks for or directs attention to objects by naming them
3-4 YEARS
Hears you when you call from another room Talks about activities at school or at friends’ homes
Hears television or radio at the same loudness level as other family Usually understood by people outside the family
members Uses a lot of sentences that have ≥4 words
Understands simple who, what, where, why questions Usually talks easily without repeating syllables or words
4-5 YEARS
Pays attention to a short story and answers simple questions Voice sounds as clear as other children’s
about it Uses sentences that include details (I like to read my books)
Hears and understands most of what is said at home and in school Tells stories that stick to a topic
Communicates easily with other children and adults
Says most sounds correctly except a few, such as l, s, r, v, z, ch, sh, and th
Uses the same grammar as the rest of the family
Adapted from American Speech-Language-Hearing Association, 2005. http://www.asha.org/public/speech/development/chart.htm.

and circumstance and the appropriate use of body language (i.e., posture, infants of monolingual mothers showed a preference for only that
eye contact, gestures). Social pragmatic and behavioral skills also play language, whereas infants of bilingual mothers showed a preference for
an important role in effective interactions with communication partners both exposed languages over any other language.
(i.e., engaging, responding, and maintaining reciprocal exchanges). Between 4 and 6 mo, infants visually search for the source of sounds,
It is customary to divide language skills into receptive (hearing and again showing a preference for the human voice over other environmental
understanding) and expressive (talking) abilities. Language development sounds. By 6 mo, infants can passively follow the adult’s line of visual
usually follows a fairly predictable pattern and parallels general intellectual regard, resulting in a “joint reference” to the same objects and events
development (Table 52.1). in the environment. The ability to share the same experience is critical
to the development of further language, social, and cognitive skills as
Receptive Language Development the infant “maps” specific meanings onto his or her experiences. By
The peripheral auditory system is mature by 26 wk gestation, and the 8-9 mo, the infant can actively show, give, and point to objects. Com-
fetus responds to and discriminates speech sounds. Anatomic asymmetry prehension of words often becomes apparent by 9 mo, when the infant
in the planum temporale, the structural brain region specialized for selectively responds to his or her name and appears to comprehend the
language processing, is present by 31 wk gestation. At birth, the full-term word “no.” Social games, such as “peek-a-boo,” “so big,” and waving
newborn appears to have functionally organized neural networks that “bye-bye” can be elicited by simply mentioning the words. At 12 mo,
are sensitive to different properties of language input. The normal many children can follow a simple, 1-step request without a gesture
newborn demonstrates preferential response to human voices over (e.g., “Give it to me”).
inanimate sound and recognizes the mother’s voice, reacting stronger Between 1 and 2 yr, comprehension of language accelerates rapidly.
to it than to a stranger’s voice. Even more remarkable is the ability of Toddlers can point to body parts on command, identify pictures in
the newborn to discriminate sentences in their “native” (mother’s) books when named, and respond to simple questions (e.g., “Where’s
language from sentences in a “foreign” language. In research settings, your shoe?”). The 2 yr old is able to follow a 2-step command, employing

unrelated tasks (e.g., “Take off your shoes, then go sit at the table”), who follow a holistic or gestalt learning pattern might start by using
and can point to objects described by their use (e.g., “Give me the one relatively large chunks of speech in familiar contexts. They might
we drink from”). By 3 yr, children typically understand simple “wh-” memorize familiar phrases or dialog from movies or stories and repeat
question forms (e.g., who, what, where, why). By 4 yr, most children them in an overgeneralized fashion. Their sentences often have a formulaic
can follow adult conversation. They can listen to a short story and pattern, reflecting inadequate mastery of the use of grammar to flexibly
answer simple questions about it. A 5 yr old typically has a receptive and spontaneously combine words appropriately in the child’s own
vocabulary of more than 2000 words and can follow 3- and 4-step unique utterance. Over time, these children gradually break down the
commands. meanings of phrases and sentences into their component parts, and
they learn to analyze the linguistic units of these memorized forms. As
Expressive Language Development this occurs, more original speech productions emerge, and the child is
Cooing noises are established by 4-6 wk of age. Over the 1st 3 mo of able to assemble thoughts in a more flexible manner. Both analytic and
life, parents may distinguish their infant’s different vocal sounds for holistic learning processes are necessary for normal language development
pleasure, pain, fussing, tiredness, and so on. Many 3 mo old infants to occur.
vocalize in a reciprocal fashion with an adult to maintain a social
interaction (“vocal tennis”). By 4 mo, infants begin to make bilabial LANGUAGE AND COMMUNICATION DISORDERS
(“raspberry”) sounds, and by 5 mo, monosyllables and laughing are Epidemiology
noticeable. Between 6 and 8 mo, polysyllabic babbling (“lalala” or Disorders of speech and language are very common in preschool-age
“mamama”) is heard, and the infant might begin to communicate with children. Almost 20% of 2 yr olds are thought to have delayed onset of
gestures. Between 8 and 10 mo, babbling makes a phonologic shift language. By age 5 yr, approximately 6% of children are identified as
toward the particular sound patterns of the child’s native language (i.e., having a speech impairment, 5% as having both speech and language
they produce more native sounds than nonnative sounds). At 9-10 mo, impairment, and 8% as having language impairment. Boys are nearly
babbling becomes truncated into specific words (e.g., “mama,” “dada”) twice as likely to have an identified speech or language impairment
for their parents. as girls.
Over the next several months, infants learn 1 or 2 words for common
objects and begin to imitate words presented by an adult. These words Etiology
might appear to come and go from the child’s repertoire until a stable Normal language ability is a complex function that is widely distributed
group of 10 or more words is established. The rate of acquisition of across the brain through interconnected neural networks that are
new words is approximately 1 new word per week at 12 mo, but it synchronized for specific activities. Although clinical similarities exist
accelerates to approximately 1 new word per day by 2 yr. The first words between acquired aphasia in adults and childhood language disorders,
to appear are used primarily to label objects (nouns) or to ask for objects unilateral focal lesions acquired in early life do not seem to have the
and people (requests). By 18-20 mo, toddlers should use a minimum same effects in children as in adults. Risk factors for neurologic injury
of 20 words and produce jargon (strings of word-like sounds) with are absent in the vast majority of children with language impairment.
language-like inflection patterns (rising and falling speech patterns). Genetic factors appear to play a major role in influencing how children
This jargon usually contains some embedded true words. Spontaneous learn to talk. Language disorders cluster in families. A careful family
2-word phrases (pivotal speech), consisting of the flexible juxtaposition history may identify current or past speech or language problems in
of words with clear intention (e.g., “Want juice!” or “Me down!”), is up to 30% of first-degree relatives of proband children. Although children
characteristic of 2 yr olds and reflects the emergence of grammatical exposed to parents with language difficulty might be expected to experi-
ability (syntax). ence poor language stimulation and inappropriate language modeling,
Two-word, combinational phrases do not usually emerge until children studies of twins have shown the concordance rate for low language test
have acquired 50-100 words in their lexicon. Thereafter, the acquisition score and/or a history of speech therapy to be approximately 50% in
of new words accelerates rapidly. As knowledge of grammar increases, dizygotic pairs, rising to over 90% in monozygotic pairs. Despite strong
there is a proportional increase in verbs, adjectives, and other words evidence that language disorders have a genetic basis, consistent genetic
that serve to define the relation between objects and people (predicates). mutations have not been identified. Instead, multiple genetic regions
By 3 yr, sentence length increases, and the child uses pronouns and and epigenetic changes may result in heterogeneous genetic pathways
simple present-tense verb forms. These 3-5 word sentences typically causing language disorders. Some of these genetic pathways disrupt the
have a subject and verb but lack conjunctions, articles, and complex timing of early prenatal neurodevelopmental events affecting migration
verb forms. The Sesame Street character Cookie Monster (“Me want of nerve cells from the germinal matrix to the cerebral cortex. Several
cookie!”) typifies the “telegraphic” nature of the 3 yr old’s sentences. single nucleotide polymorphisms (SNPs) involving noncoding regulatory
By 4-5 yr, children should be able to carry on conversations using genes, including CNTNAP2 (contactin-associated-protein-like-2) and
adult-like grammatical forms and use sentences that provide details KIAA0319, are strongly associated with early language acquisition and
(e.g., “I like to read my books”). are also believed to affect early neuronal structural development.
In addition, other environmental, hormonal, and nutritional factors
Variations of Normal may exert epigenetic influences by dysregulating gene expression and
Language milestones have been found to be largely universal across resulting in aberrant sequencing of the onset, growth, and timing of
languages and cultures, with some variations depending on the complexity language development.
of the grammatical structure of individual languages. In Italian (where
verbs often occupy a prominent position at the beginning or end of Pathogenesis
sentences), 14 mo olds produce a greater proportion of verbs compared Language disorders are associated with a fundamental deficit in the
with English speaking infants. Within a given language, development brain’s capacity to process complex information rapidly. Simultaneous
usually follows a predictable pattern, paralleling general cognitive evaluation of words (semantics), sentences (syntax), prosody (tone of
development. Although the sequences are predictable, the exact timing voice), and social cues can overtax the child’s ability to comprehend
of achievement is not. There are marked variations among normal and respond appropriately in a verbal setting. Limitations in the amount
children in the rate of development of babbling, comprehension of of information that can be stored in verbal working memory can further
words, production of single words, and use of combinational forms limit the rate at which language information is processed. Electrophysi-
within the first 2-3 yr of life. ologic studies show abnormal latency in the early phase of auditory
Two basic patterns of language learning have been identified, analytic processing in children with language disorders. Neuroimaging studies
and holistic. The analytic pattern is the most common and reflects the identify an array of anatomic abnormalities in regions of the brain that
mastery of increasingly larger units of language form. The child’s analytic are central to language processing. MRI scans in children with specific
skills proceed from simple to more complex and lengthy forms. Children language impairment (SLI) may reveal white matter lesions and volume

Table 52.2 DSM-5 Diagnostic Criteria for Communication Disorders

Language Disorder Social (Pragmatic) Communication Disorder
A Persistent difficulties in the acquisition and use of language across A. Persistent difficulties in the social use of verbal and nonverbal
modalities (i.e., spoken, written, sign language, or other) due to communication as manifested by all of the following:
deficits in comprehension or production that include the 1. Deficits in using communication for social purposes, such as
following: greeting and sharing information, in a manner that is
1. Reduced vocabulary (word knowledge and use). appropriate 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
grammar and morphology). differently in a classroom than on a playground, talking
3. Impairments in discourse (ability to use vocabulary and connect differently to a child than to an adult, and avoiding use of
sentences to explain or describe a topic or series of events or overly formal 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 nonverbal
communication, social participation, academic achievement, or 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
(intellectual developmental disorder) or global developmental communication, social participation, social relationships,
delay. academic achievement, or occupational performance, individually
or in combination.
Speech Sound Disorder C. The onset of the symptoms is in the early developmental period
A. Persistent difficulty with speech sound production that interferes (but deficits may not become fully manifest until social
with speech intelligibility or prevents verbal communication of communication demands exceed limited capacities).
messages. D. The symptoms are not attributable to another medical or
B. The disturbance causes limitations in effective communication neurologic condition or to low abilities in the domains of word
that interfere with social participation, academic achievement, or structure and grammar, and are not better explained by autism
occupational performance, individually or in any combination. spectrum disorder, intellectual disability (intellectual
C. Onset of symptoms is in the early developmental period. developmental disorder), global developmental delay, or another
D. The difficulties are not attributable to congenital or acquired mental disorder.
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, Fifth Edition, (Copyright 2013). American Psychiatric Association, pp 42, 44, 47–48.

loss, ventricular enlargement, focal gray matter heterotopia within the communication (Table 52.2). In clinical practice, childhood speech and
right and left parietotemporal white matter, abnormal morphology of language disorders occur as a number of distinct entities.
the inferior frontal gyrus, atypical patterns of asymmetry of language
cortex, or increased thickness of the corpus callosum in a minority of Language Disorder or Specific Language Impairment
affected children. Postmortem studies of children with language disorders The condition DSM-5 refers to as language disorder is also referred
found evidence of atypical symmetry in the plana temporale and cortical to as specific language impairment (SLI), developmental dysphasia,
dysplasia in the region of the sylvian fissure. In support of a genetic or developmental language disorder. SLI is characterized by a significant
mechanism affecting cerebral development, a high rate of atypical discrepancy between the child’s overall cognitive level (typically nonverbal
perisylvian asymmetries has also been documented in the parents of measures of intelligence) and functional language level. These children
children with SLI. also follow an atypical pattern of language acquisition and use. Closer
examination of the child’s skills might reveal deficits in understanding
Clinical Manifestations and use of word meaning (semantics) and grammar (syntax). Often,
Primary disorders of speech and language development are often found children are delayed in starting to talk. Most significantly, they usually
in the absence of more generalized cognitive or motor dysfunction. have difficulty understanding spoken language. The problem may stem
However, disorders of communication are also the most common from insufficient understanding of single words or from the inability
comorbidities in persons with generalized cognitive disorders (intellectual to deconstruct and analyze the meaning of sentences. Many affected
disability or autism), structural anomalies of the organs of speech (e.g., children show a holistic pattern of language development, repeating
velopharyngeal insufficiency from cleft palate), and neuromotor condi- memorized phrases or dialog from movies or stories (echolalia). In
tions affecting oral motor coordination (e.g., dysarthria from cerebral contrast to their difficulty with spoken language, children with SLI
palsy or other neuromuscular disorders). appear to learn visually and demonstrate their ability on nonverbal tests
of intelligence.
Classification After children with SLI become fluent talkers, they are generally less
Each professional discipline has adopted a somewhat different classifica- proficient at producing oral narratives than their peers. Their stories
tion system, based on cluster patterns of symptoms. The American tend to be shorter and include fewer propositions, main story ideas, or
Psychiatric Association (APA) Diagnostic and Statistical Manual of story grammar elements. Older children include fewer mental state
Mental Disorders, Fifth Edition (DSM-5) organized communication descriptions (e.g., references to what their characters think and how
disorders into: (1) language disorder (which combines expressive and they feel). Their narratives contain fewer cohesive devices, and the story
mixed receptive-expressive language disorders), speech sound disorder line may be difficult to follow.
(phonologic disorder), and childhood-onset fluency disorder (stuttering); Many children with SLI show difficulties with social interaction,
and (2) social (pragmatic) communication disorder, which is character- particularly with same-age peers. Social interaction is mediated by oral
ized by persistent difficulties in the social uses of verbal and nonverbal communication, and a child deficient in communication is at a distinct

disadvantage in the social arena. Children with SLI tend to be more

dependent on older children or adults, who can adapt their communica-
tion to match the child’s level of function. Generally, social interaction Language Disorders
skills are more closely correlated with language level than with nonverbal
cognitive level. Using this as a guide, one usually sees a developmental
progression of increasingly more sophisticated social interaction as the Intellectual
Autism
child’s language abilities improve. In this context, social ineptitude is Disability
not necessarily a sign of asocial distancing (e.g., autism) but rather a
delay in the ability to negotiate social interactions.

Higher-Level Language Disorder

As children mature, the ability to communicate effectively with others
depends on mastery of a range of skills that go beyond basic understand- Fig. 52.1 Relationship of autism, language disorders, and intellectual
disability. (From Simms MD, Schum RL: Preschool children who have
ing of words and rules of grammar. Higher-level language skills include
atypical patterns of development, Pediatr Rev 21:147–158, 2000.)
the development of advanced vocabulary, the understanding of word
relationships, reasoning skills (including drawing correct inferences
and conclusions), the ability to understand things from another person’s
perspective, and the ability to paraphrase and rephrase with ease. In
addition, higher-order language abilities include pragmatic skills that ability). Parents report regression in language and social skills (autistic
serve as the foundation for social interactions. These skills include regression) in approximately 20–25% of children with ASD, usually
knowledge and understanding of one’s conversational partner, knowledge between 12 and 36 mo of age. The cause of the regression is not known,
of the social context in which the conversation is taking place, and but it tends to be associated with an increased risk for comorbid intel-
general knowledge of the world. Social and linguistic aspects of com- lectual disability and more severe ASD (Fig. 52.1).
munication are often difficult to separate, and persons who have trouble
interpreting these relatively abstract aspects of communication typically Asperger Syndrome
experience difficulty forming and maintaining relationships. Asperger syndrome is characterized by difficulties in social interaction,
DSM-5 identified social (pragmatic) communication disorder eccentric behaviors, and abnormally intense and circumscribed interests
(SPCD) as a category of communication disorder (Table 52.2). Symptoms despite normal cognitive and verbal ability. Affected individuals may
of pragmatic difficulty include extreme literalness and inappropriate engage in long-winded, verbose monologs about their topics of special
verbal and social interactions. Proper use and understanding of humor, interest, with little regard to the reaction of others. Adults with Asperger
slang, and sarcasm depend on correct interpretation of the meaning syndrome generally have a more favorable prognosis of than those with
and the context of language and the ability to draw proper inferences. “classic” autism. Prior to 2013, Asperger syndrome was classified as
Failure to provide a sufficient referential base to one’s conversational distinct from autism; however, DSM-5 no longer recognizes Asperger
partner—to take the perspective of another person—results in the as a separate neurodevelopmental disorder. More severely affected
appearance of talking or behaving randomly or incoherently. SPCD individuals are now considered to be at the “high functioning” end of
often occurs in the context of another language disorder and has been the autism spectrum (see Chapter 54), whereas mildly impaired individu-
recognized as a symptom of a wide range of disorders, including right- als may be diagnosed with SPCD.
hemisphere damage to the brain, Williams syndrome, and nonverbal
learning disabilities. SPCD can also occur independently of other Selective Mutism
disorders. Children with autism spectrum disorder (ASD) often have Selective mutism is defined as a failure to speak in specific social situ-
symptoms of SPCD, but SPCD is not diagnosed in these children because ations despite speaking in other situations, and it is typically a symptom
the symptoms are a component of ASD. In school settings, children of an underlying anxiety disorder. Children with selective mutism can
with SPCD may be socially ostracized and bullied. speak normally in certain settings, such as within their home or when
they are alone with their parents. They fail to speak in other social
Intellectual Disability settings, such as at school or at other places outside their home. Other
Most children with a mild degree of intellectual disability learn to talk symptoms associated with selective mutism can include excessive shyness,
at a slower-than-normal rate; they follow a normal sequence of language withdrawal, dependency on parents, and oppositional behavior. Most
acquisition and eventually master basic communication skills. Difficulties cases of selective mutism are not the result of a single traumatic event,
may be encountered with higher-level language concepts and use. Persons but rather the manifestation of a chronic pattern of anxiety. Mutism is
with moderate to severe degrees of intellectual disability can have great not passive-aggressive behavior. Selectively mute children often report
difficulty in acquiring basic communication skills. About half of persons that they want to speak in social settings but are afraid to do so. Often,
with an intelligence quotient (IQ) of <50 can communicate using single one or both parents of a child with selective mutism has a history of
words or simple phrases; the rest are typically nonverbal. anxiety symptoms, including childhood shyness, social anxiety, or panic
attacks. Mutism is highly functional for the child in that it reduces
Autism Spectrum Disorder anxiety and protects the child from the perceived challenge of social
A disordered pattern of language development is one of the core features interaction. Treatment of selective mutism should utilize cognitive
of ASD (see Chapter 54). The language profile of children with ASD is behavioral strategies focused on reducing the general anxiety and
often indistinguishable from that in children with SLI or SPCD. The increasing speaking in social situation (see Chapter 38). Occasionally,
key characteristics of ASD that distinguish it from SLI or SPCD are selective serotonin reuptake inhibitors are helpful in conjunction with
lack of reciprocal social relationships; limitation in the ability to develop cognitive-behavioral therapy. Selective mutism reflects a difficulty of
functional, symbolic, or pretend play; hyper- or hyporeactivity to sensory social interaction, not a disorder of language processing.
input; and an obsessive need for sameness and resistance to change.
Approximately 40% of children with ASD also have intellectual disability, Isolated Expressive Language Disorder
which can limit their ability to develop functional communication skills. More often seen in boys than girls, isolated expressive language disorder
Language abilities can range from absent to grammatically intact, but (“late talker syndrome”) is a diagnosis best made in retrospect. These
with limited pragmatic features and odd prosody patterns. Some individu- children have age-appropriate receptive language and social ability. Once
als with ASD have highly specialized, but isolated, “savant” skills, such they start talking, their speech is clear. There is no increased risk for
as calendar calculations and hyperlexia (the precocious ability to language or learning disability as they progress through school. A family
recognize written words beyond expectation based on general intellectual history of other males with a similar developmental pattern is often

reported. This pattern of language development likely reflects a variation conversational skills are weak. As a result, they speak superficially about
of normal. topics and appear to be carrying on a monolog (see Chapter 609.11).

MOTOR SPEECH DISORDERS RARE CAUSES OF LANGUAGE IMPAIRMENT

Dysarthria Hyperlexia
Motor speech disorders can originate from neuromotor disorders such Hyperlexia is the precocious development of reading single words that
as cerebral palsy, muscular dystrophy, myopathy, and facial palsy. The spontaneously occurs in some young children (2-5 yr) without specific
resulting dysarthria affects both speech and nonspeech functions (smiling instruction. It is often associated with ASD or SLI. It stands in contrast
and chewing). Lack of strength and muscular control manifests as slur- to precocious reading development in young children who do not have
ring of words and distorting of vowels. Speech patterns are often slow any other developmental disorders. A typical manifestation is a child
and labored. Poor velopharyngeal function can result in mixed nasal with SLI orally reading single words or matching pictures with single
resonance (hyper- or hyponasal speech). In many cases, feeding difficulty, words. Although hyperlexic children show early and well-developed
drooling, open-mouth posture, and protruding tongue accompany the word-decoding skills, they usually do not have precocious ability for
dysarthric speech. comprehension of text. Rather, text comprehension is closely intertwined
with oral comprehension, and children who have difficulty decoding
Childhood Apraxia of Speech the syntax of language are also at risk for having reading comprehension
Difficulty in planning and coordinating movements for speech production problems.
can result in inconsistent distortion of speech sounds. The same word
may be pronounced differently each time. Intelligibility tends to decline Landau-Kleffner Syndrome
as the length and complexity of the child’s speech increases. Consonants (Verbal Auditory Agnosia)
may be deleted and sounds transposed. As they try to talk spontaneously, Children with Landau-Kleffner syndrome have a history of normal
or imitate other’s speech, children with childhood apraxia of speech language development until they experience a regression in their ability
may display oral groping or struggling behaviors. Children with childhood to comprehend spoken language, verbal auditory agnosia. The regression
apraxia of speech frequently have a history of early feeding difficulty, may be sudden or gradual, and it usually occurs between 3 and 7 yr of
limited sound production as infants, and delayed onset of spoken words. age. Expressive language skills typically deteriorate, and some children
They may point, grunt, or develop an elaborate gestural communication may become mute. Despite their language regression, these children
system in an attempt to overcome their verbal difficulty. Apraxia may typically retain appropriate play patterns and the ability to interact in
be limited to oral-motor function, or it may be a more generalized a socially appropriate manner. An electroencephalogram (EEG) might
problem affecting fine and/or gross motor coordination. show a distinct pattern of status epilepticus in sleep (continuous spike
wave in slow-wave sleep), and up to 80% of children with Landau-Kleffner
Speech Sound Disorder syndrome eventually exhibit clinical seizures. A number of treatment
Children with speech sound disorder (SSD), previously called phonologic approaches have been reported, including antiepileptic medication,
disorder, are often unintelligible, even to their parents. Articulation corticosteroids, and intravenous gamma globulin, with varying results.
errors are not the result of neuromotor impairment, but rather seem The prognosis for return of normal language ability is uncertain, even
to reflect an inability to correctly process the words they hear (Table with resolution of the EEG abnormality. Epileptic interictal discharges
52.2). As a result, they lack understanding of how to fit sounds together are more frequently found on EEGs of children with language impair-
properly to create words. In contrast to children with childhood apraxia ments than in otherwise normally developing children, even in those
of speech, those SSD are fluent, although unintelligible, and produce a without any history of language regression. However, this phenomenon
consistent, highly predictable pattern of articulation errors. Children is believed to represent a manifestation of an underlying disorder of
with SSD are at high risk for later reading and learning disability. brain structure or function that is distinct from the language impairment,
because there has been little evidence of improvement in language
HEARING IMPAIRMENT function when the EEG was normalized after antiepileptic administration.
Hearing loss can be a major cause of delayed or disordered language Unless there is a clear pattern of either seizure symptoms or regression
development (see Chapter 655). Approximately 16-30 per 1,000 children in language ability, a routine EEG is not recommended as part of the
have mild to severe hearing loss, significant enough to affect educational evaluation for a child with speech and/or language impairment.
progress. In addition to these “hard of hearing” children, approximately
another 1 : 1,000 are deaf (profound bilateral hearing loss). Hearing loss Metabolic and Neurodegenerative Disorders
can be present at birth or acquired postnatally. Newborn screening (See also Part X.)
programs can identify many forms of congenital hearing loss, but children Regression of language development may accompany loss of neuromo-
can develop progressive hearing loss or acquire deafness after birth. tor function at the outset of a number of metabolic diseases, including
The most common types of hearing loss are attributable to conductive lysosomal storage disorders (metachromatic leukodystrophy), peroxisomal
(middle ear) or sensorineural deficit. Although it is not possible to disorders (adrenal leukodystrophy), ceroid lipofuscinosis (Batten disease),
accurately predict the impact of hearing loss on a child’s language and mucopolysaccharidosis (Hunter disease, Hurler disease). Recently,
development, the type and degree of hearing loss, the age of onset, and creatine transporter deficiency was identified as an X-linked disorder
the duration of the auditory impairment clearly play important roles. that manifests with language delay in boys and with mild learning
Children with significant hearing impairment often have problems disability in female carriers.
developing facility with language and often have related academic
difficulties. Presumably, the language impairment is caused by lack of Screening
exposure to fluent language models, starting in infancy. Developmental surveillance at each well child visit should include specific
Approximately 30% of hearing-impaired children have at least 1 other questions about normal language developmental milestones and observa-
disability that affects development of speech and language (e.g., intel- tions of the child’s behavior. Clinical judgment, defined as eliciting
lectual disability, cerebral palsy, craniofacial anomalies). Any child who and responding to parents’ concerns, can detect the majority of children
shows developmental warning signs of a speech or language problem with speech and language problems. The AAP recommends clinicians
should have a hearing assessment by an audiologist. employ standardized developmental screening questionnaires and
observation checklists at select well child visits. (see Chapter 28).
HYDROCEPHALUS In 2015 the U.S. Preventive Services Task Force reviewed screening
Some children with hydrocephalus may be described as having “cocktail- for SLI in young children in primary care settings and found inadequate
party syndrome.” Although they may use sophisticated words, their evidence to support screening in the absence of parental or clinician
comprehension of abstract concepts is limited, and their pragmatic concern about children’s speech, language, hearing, or development.

Table 52.3 Speech and Language Screening

REFER FOR SPEECH–LANGUAGE EVALUATION IF:
AT AGE RECEPTIVE EXPRESSIVE
15 mo Does not look/point at 5-10 objects Is not using 3 words
18 mo Does not follow simple directions (“get your shoes”) Is not using Mama, Dada, or other names
24 mo Does not point to pictures or body parts when they are named Is not using 25 words
30 mo Does not verbally respond or nod/shake head to questions Is not using unique 2-word phrases, including noun–verb
combinations
36 mo Does not understand prepositions or action words; does not Has a vocabulary of <200 words; does not ask for things; echolalia
follow 2-step directions to questions; language regression after attaining 2-word phrases

When either parents or physicians are concerned about speech or both verbal and nonverbal scores will be low compared to norms (≤2nd
language development for reasons such as highlighted in Table 52.3, percentile). In contrast, a typical cognitive profile for a child with SLI
the child should be referred for further evaluation and intervention includes a significant difference between nonverbal and verbal abilities,
(see Diagnostic Evaluation). with nonverbal IQ being greater than verbal IQ and the nonverbal score
being within an average range.
NONCAUSES OF LANGUAGE DELAY
Twinning, birth order, “laziness,” exposure to multiple languages Evaluation of Social Behaviors
(bilingualism), tongue-tie (ankyloglossia), or otitis media are not adequate Social interest is the key difference between children with a primary
explanations for significant language delay. Normal twins learn to talk language disorder (SLI) and those with a communication disorder
at the same age as normal single-born children, and birth-order effects secondary to ASD. Children with SLI have an interest in social interaction,
on language development have not been consistently found. The drive but they may have difficulty enacting their interest because of their
to communicate and the rewards for successful verbal interaction are limitations in communication. In contrast, autistic children show little
so strong that children who let others talk for them usually cannot talk social interest.
for themselves and are not “lazy.” Toddlers exposed to more than one
language can show a mild delay in starting to talk, and they can initially Relationship of Language and Social Behaviors
mix elements (vocabulary and syntax) of the different languages they to Mental Age
are learning (code switching). However, they learn to segregate each Cognitive assessment provides a mental age for the child, and the child’s
language by 24-30 mo and are equal to their monolingual peers by 3 yr behavior must be evaluated in that context. Most 4 yr old children
of age. An extremely tight lingual frenulum (tongue-tie) can affect feeding typically engage peers in interactive play, but most 2 yr olds are playful
and speech articulation but does not prevent the acquisition of language but primarily focused on interactions with adult caretakers. A 4 yr old
abilities. Prospective studies also show that frequent ear infections and with mild to moderate intellectual disability and a mental age of 2 yr
serous otitis media in early childhood do not result in persisting language might not yet play with peers because of cognitive limitation, not a lack
disorder. of desire for social interaction.

Diagnostic Evaluation Speech and Language Evaluation

It is important to distinguish developmental delay (abnormal timing) A certified speech-language pathologist should perform a speech and
from abnormal patterns or sequences of development. A child’s language language evaluation. A typical evaluation includes assessment of language,
and communication skills must also be interpreted within the context speech, and the physical mechanisms associated with speech production.
of the child’s overall cognitive and physical abilities. It is also important Both expressive and receptive language is assessed by a combination
to evaluate the child’s use of language to communicate with others in of standardized measures and informal interactions and observations.
the broadest sense (communicative intent). Thus a multidisciplinary All components of language are assessed, including syntax, semantics,
evaluation is often warranted. At a minimum, this should include pragmatics, and fluency. Speech assessment similarly uses a combination
psychologic evaluation, neurodevelopmental pediatric assessment, and of standardized measures and informal observations. Assessment of
speech-language examination. physical structures includes oral structures and function, respiratory
function, and vocal quality. In many settings, a speech-language patholo-
Psychologic Evaluation gist works in conjunction with an audiologist, who can do appropriate
There are two main goals for the psychologic evaluation of a young hearing evaluation of the child. If an audiologist is not available in that
child with a communication disorder. Nonverbal cognitive ability must setting, a separate referral should be made. No child is too young for
be assessed to determine if the child has an intellectually disability, and a speech-language or hearing evaluation. A referral for evaluation is
the child’s social behaviors must be assessed to determine whether ASD appropriate whenever there is suspicion of language impairment.
is present. Additional diagnostic considerations may include emotional
disorders such as anxiety, depression, mood disorder, obsessive- Medical Evaluation
compulsive disorder, academic learning disorders, and attention-deficit/ Careful history and physical examination should focus on the
hyperactivity disorder (ADHD). identification of potential contributors to the child’s language and
communication difficulties. A family history of delay in talking, need
Cognitive Assessment for speech and language therapy, or academic difficulty can suggest
Intellectual disability is defined as deficits in cognitive abilities and a genetic predisposition to language disorders. Pregnancy history
adaptive behaviors. In this context, children with intellectual disability might reveal risk factors for prenatal developmental anomalies, such
show delayed development of communication skills; however, delayed as polyhydramnios or decreased fetal movement patterns. Small size for
communication does not necessarily signal intellectual disability. gestational age at birth, symptoms of neonatal encephalopathy, or early
Therefore, a broad-based cognitive assessment is an important component and persistent oral-motor feeding difficulty may presage speech and
to the evaluation of children with language delays, including evaluation language difficulty. Developmental history should focus on the age when
of both verbal and nonverbal skills. If a child has intellectual disability, various language skills were mastered and the sequences and patterns of

milestone acquisition. Regression or loss of acquired skills should raise For children with severe language impairment, alternative methods
immediate concern. of communication are often included in therapy, such as manual sign
Physical examination should include measurement of height (length), language, use of pictures (e.g., Picture Exchange Communication System),
weight, and head circumference. The skin should be examined for lesions and computerized devices for speech output. Often the ultimate goal
consistent with phakomatosis (e.g., tuberous sclerosis, neurofibromatosis, is to achieve better spoken language. Early use of signs or pictures can
Sturge-Weber syndrome) and other disruptions of pigment (e.g., help the child establish better functional communication and understand
hypomelanosis of Ito). Anomalies of the head and neck, such as white the symbolic nature of words to facilitate the language process. There
forelock and hypertelorism (Waardenburg syndrome), ear malformations is no evidence that use of signs or pictures interferes with development
(Goldenhar syndrome), facial and cardiac anomalies (Williams syndrome, of oral language if the child has the capacity to speak. Many clinicians
velocardiofacial syndrome), retrognathism of the chin (Pierre Robin believe that these alternative methods accelerate the learning of language.
anomaly), or cleft lip/palate, are associated with hearing and speech These methods also reduce the frustration of parents and children who
abnormalities. Neurologic examination might reveal muscular hyper- cannot communicate for basic needs.
tonia or hypotonia, both of which can affect neuromuscular control of Parents can consult with their child’s speech-language therapist about
speech. Generalized muscular hypotonia, with increased range of motion home activities to enhance language development and extend therapy
of the joints, is frequently seen in children with SLI. The reason for this activities through appropriate language-stimulating activities and
association is not clear, but it might account for the fine and gross recreational reading. Parents’ language activities should focus on emerging
motor clumsiness often seen in these children. However, mild hypotonia communication skills that are within the child’s repertoire, rather than
is not a sufficient explanation for the impairment of expressive and teaching the child new skills. The speech pathologist can guide parents
receptive language. on effective modeling and eliciting communication from their child.
No routine diagnostic studies are indicated for SLI or isolated language Recreational reading focuses on expanding the child’s comprehension
disorders. When language delay is a part of a generalized cognitive or of language. Sometimes the child’s avoidance of reading is a sign that
physical disorder, referral for further genetic evaluation, chromosome the parent is presenting material that is too complex for the child. The
testing (e.g., fragile X testing, microarray comparative genomic hybridiza- speech-language therapist can guide the parent in selecting an appropriate
tion), neuroimaging studies, and EEG may be considered, if clinically level of reading material.
indicated.
PROGNOSIS
TREATMENT Children with mild isolated expressive language disorder (“late talkers”)
The federal Individuals with Disabilities Education Act (IDEA) requires have an excellent prognosis for both language, learning, and social-
that schools provide early intervention and special education services emotional adjustment.
to children who have learning difficulties. This includes children with Over time, children with SLI respond to therapeutic/educational
speech and language disorders. Services are provided to children from interventions and show a trend toward improvement of communication
birth through 21 yr of age. States have various methods for providing skills. Adults with a history of childhood language disorder continue
services, including speech and language therapy for young children, to show evidence of impaired language ability, even when surface features
such as Birth-to-Three, Early Childhood, and Early Learning programs. of the communication difficulty have improved considerably. This suggests
Children can also receive therapy from nonprofit service agencies, that many persons find successful ways of adapting to their impairment.
hospital and rehabilitation centers, and speech pathologists in private Although the majority of children improve their communication ability
practice. with time, 50–80% of preschoolers with language delay and normal
Of concern is that many children with identified speech and language nonverbal intelligence continue to experience difficulty with language
deficits do not receive appropriate intervention services. Population-based and social development up to 20 yr beyond the initial diagnosis. Language
surveys in both the United States and Canada have found that less than disorders often interfere with the child’s ability to conceptualize the
half of children identified by kindergarten entry receive speech and increasingly complex and ambiguous worlds of social relationship and
language interventions, even when their parents have been educated emotions. Consequently, in later childhood and adolescence, children
about the nature of their child’s condition. In one study, children with with persisting symptoms of SLI are about twice as likely as their
deficits in speech sound production were much more likely to receive typical-language peers to show clinical levels of emotional problems
services (41%) than those who had problems with language alone (9%). and twice as likely to show behavioral difficulties.
These findings are troubling because poor educational outcome, especially A Danish study found that adults with SLI were less likely to have
in reading, and impaired social-behavioral adjustment are more highly completed formal education beyond high school, and that they had
associated with language than with speech sound disorders. Therefore lower occupational and socioeconomic success than the general popula-
the children at greatest risk are least likely to receive intervention services. tion; 56% had a paid job (vs 84% of same-age general population), of
Boys were twice as likely to receive speech intervention as girls, regardless whom 35% were unskilled and 40% skilled workers. About 80% of the
of their speech-language diagnosis. Social and demographic factors did adults reported difficulty reading while in school, most had received
not appear to influence whether identified children received interventions remedial teaching, and 50% continued to report reading difficulty as
services. adults (vs 5% of Danish adults). Lower nonverbal intelligence and
Speech-language therapy includes a variety of goals. Sometimes both comorbid psychiatric or neurologic disorders independently contrib-
speech and language activities are incorporated in therapy. The speech uted to a worse prognosis. These results were consistent with previous
goals focus on development of more intelligible speech. Language goals reports of adult outcomes of children with SLI from Canada and the
can focus on expanding vocabulary (lexicon) and understanding of United Kingdom.
the meaning of words (semantics), improving syntax by using proper
forms or learning to expand single words into sentences, and social Academic Disorders
use of language (pragmatics). Therapy can include individual sessions, Early language difficulty is strongly related to later reading disorder.
group sessions, and mainstream classroom integration. Individual Approximately 50% of children with early language difficulty develop
sessions may use drill activities for older children or play activities for reading disorder, and 55% of children with reading disorder have a
younger children to target specific goals. Group sessions can include history of impaired early oral language development. By the time they
several children with similar language goals to help them practice enter kindergarten, many children with early language deficits may
peer communication activities and to help them bridge the gap into have improved significantly, and they may begin to show early literacy
more naturalistic communication situations. Classroom integration skills, identifying and sounding out letters. However, as they progress
might include the therapist team-teaching or consulting with the through school, they are often unable to keep up with the increasing
teacher to facilitate the child’s use of language in common academic demands for both oral and written language. Despite their ability to
situations. read words, these children lack oral and reading comprehension, may

read slowly, and struggle with a wide range of academic subjects. This
“illusory recovery” of early language skill may result in children losing Table 52.4 Terminology Related to Childhood-Onset
speech-language services or other special education support in early Fluency Disorder
grades, only to be identified later with academic problems. In addition, TERM DEFINITION
children with subtle but persisting language impairments may appear
Stuttering A speech disorder manifested through
inattentive or anxious in language-rich classroom environments and
abnormal speech patterns referred to as
may be misdiagnosed as having an attention disorder. dysfluencies
A study from Australia found that at 7-9 yr of age, children with
communication impairments were reported by their parents and teachers Childhood-onset Term used in DSM-5 that is synonymous with
to be making slower progress in reading, writing, and overall school fluency disorder stuttering
achievement than other children their age. The children reported a Stammering The clinical term used in the United Kingdom
higher incidence of bullying, poorer peer relationships, and less overall rather than stuttering; stammering also used
enjoyment of school than their typically developing peers. informally to describe halting speech
Cluttering A speech disorder characterized by excessively
COMORBID DISORDERS rapid and irregular rate of speech
Emotional and Behavioral Difficulty
Dysfluency Speech disruptions that can occur in normal or
Early language disorder, particularly difficulty with auditory comprehen-
disordered speech
sion, appears to be a specific risk factor for later emotional dysfunction.
Boys and girls with language disorder have a higher-than-expected rate
of anxiety disorder (principally social phobia). Boys with language
disorder are more likely to develop symptoms of ADHD, conduct disorder,
and antisocial personality disorder compared with normally developing conditions and that interrupts the normal flow of speech through repeated
peers. Language disorders are common in children referred for psychiatric or prolonged sounds, syllables, or single-syllable words. (Table 52.4 lists
services, but they are often underdiagnosed, and their impact on children’s definitions of terminology.) All speakers experience speech dysfluencies.
behavior and emotional development is often overlooked. During the toddler and preschool years, children often make repetitions
Preschoolers with language difficulty frequently express their frustra- of sounds, syllables, or words, particularly at the beginning of sentences
tion through anxious, socially withdrawn, or aggressive behavior. As (normal dysfluencies). However, dysfluencies found in individuals who
their ability to communicate improves, parallel improvements are usually stutter are distinct from those experienced by typically developing
noted in their behavior, suggesting a cause-and-effect relationship between speakers. Specifically, children who stutter show greater part-word
language and behavior. However, the persistence of emotional and repetition (“b-b-b-b-but”), single-syllable word repetition (“My, my,
behavioral problems over the life span of persons with early language my”), and sound prolongation (“MMMMMM-an”), and the frequency
disability suggests a strong biologic or genetic connection between of their stuttering is much greater than found in normal dysfluencies.
language development and subsequent emotional disorders. Other types of dysfluency that are not exclusive to children who stutter
The full impact of environmental and education support on these include interjections (“well, uhh, umm”), revisions (“I thought…I mean”),
emotional and behavioral difficulties is not known at this time, but and phrase repetitions (“Did you say–Did you say”). The perspective of
many children with SLI need psychologic support. Efforts should be the speaker also characterizes differences between those children who
made to support the child’s resilience, emotional competency, and coping stutter and a typical dysfluency. Children who stutter have decided on
abilities. Parents and teachers should be encouraged to strengthen the a word to use but are unable to “get the word out,” while a typically
child’s prosocial behavior and reduce noncompliant and aggressive developing child may struggle to express herself because she is unable
behaviors. to retrieve the word, changes thought, or is distracted.
Multiple nonspeech features can accompany stuttering. Physical
Motor and Coordination Delays concomitants that occur at the onset and as the condition persists
Approximately one third to one half of children with speech and/or include movements of the head (head turning or jerking), face (eye
language disorders have some degree of motor coordination impairment blinking/squinting, grimacing, opening or tightly closing the jaw), and
that may have an important impact on their ability to carry out activities neck (tightening) and irregular inhalations and exhalations. Fear and
of daily living (dressing, eating, bathing), school tasks (writing, drawing, anxiety about speaking in a large-group setting, such as in front of a
coloring), and social/recreational activities (participation in sports and class or in interpersonal social interactions, are emotional symptoms
other playground activities). Motor difficulties are not related to the associated with stuttering. As with all social beings, children closely
type of language impairment (i.e., they are found both in children with monitor the reactions of those with whom they associate, especially as
only receptive delays and in those with both expressive and receptive they get older. It is not difficult to imagine the impact a single or series
delays). The patterns of motor difficulty seen in children with language of negative interactions or comments could have on a child’s future
impairment are not distinctly “abnormal,” and the motor profiles of attempts to interact verbally with another or in a large social setting.
children with language impairment resemble those of younger children, Consider also the potential social challenges associated with entering
suggesting that they result from delayed maturation of motor development a classroom for the first time, transitioning to middle/high school/
rather than from a neurologic impairment. Several researchers have college, beginning a job, dating, and so on. Not surprisingly, avoidance
postulated that language impairments and motor difficulties may have is a common way of coping with the anxiety created by the fear of
a common neurodevelopmental basis. Because attention may be focused stuttering.
on the child’s language delays, the need for intervention and support In the Diagnostic and Statistical Manual for Mental Disorders, Fifth
for the child’s comorbid motor impairment may be overlooked. Edition (DSM-5), the term stuttering has been removed from the
diagnostic classification, and the disorder is referred to as childhood-
Bibliography is available at Expert Consult. onset fluency disorder (Table 52.5). Note that impact on functional
behavior is a component of the psychiatric diagnosis of this condition.
In contrast, communication disorder specialists would consider possible
anxiety and avoidance of various activities and situations a common
52.1 Childhood-Onset Fluency Disorder concomitant of childhood-onset fluency disorder (stuttering) and not
Kenneth L. Grizzle necessarily a requirement for the diagnosis to be made.
Stuttering is distinct from other disordered speech output conditions
Developmental stuttering is a childhood speech disorder that is not such as cluttering in several ways. Unlike stuttering, for which distinct
associated with stroke, traumatic brain injury, or other possible medical episodes can be identified and even counted, cluttering affects the entire

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Boyle J: Speech and language delays in preschool children, BMJ 343:d5181, 2011. a prospective, community cohort study, Pediatrics 123:270–277, 2009.
Clegg J, Hollis C, Mawhood L, et al: Developmental language disorder—a follow-up Rice ML: Toward epigenetic and gene regulation models of specific language impair-
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Cohen NJ, Barwick MA, Horodezky NB, et al: Language, achievement, and cognitive Roberts JE, Rosenfeld RM, Zeisel SA: Otitis media and speech and language: a meta-
processing in psychiatrically disturbed children with previously identified and analysis of prospective studies, Pediatrics 113(3 Pt 1):e238–e248, 2004.
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Keywords
childhood-onset fluency disorder
cluttering
physical concomitants
stammering, stuttering

COMORBIDITIES
Table 52.5 DSM-5 Diagnostic Criteria for Childhood- Despite the widely held belief in a high degree of comorbidity between
Onset Fluency Disorder (Stuttering) childhood-onset fluency disorder and other communication disorders,
A. Disturbances in the normal fluency and time patterning of research to date does not necessarily support this assertion. Speech-
speech that are inappropriate for the individual’s age and language pathologists (SLPs) consistently report higher rates of comorbid-
language skills, persist over time, and are characterized by ity on their caseload, although this would be expected in clinical samples.
frequent and marked occurrences of one (or more) of the Speech sound (phonologic) disorders are the most commonly reported
following: comorbidities, and 30–40% of children on SLP caseloads are also
1. Sound and syllable repetitions. experiencing problems with phonology. However, studies have not found
2. Sound prolongations of consonants as well as vowels. greater incidence of phonologic disorders among those who stutter
3. Broken words (e.g., pauses within a word). compared to a control group. Similarly, SLPs report a much higher
4. Audible or silent blocking (filled or unfilled pauses in speech).
5. Circumlocutions (word substitutions to avoid problematic
percentage of children with language disorders among their patients
words). who stutter than the approximately 7% expected in the population at
6. Words produced with an excess of physical tension. large, yet the language functioning among stutters apparently is no
7. Monosyllabic whole-word repetitions (e.g., “I-I-I-I see him”). different than in the general population. The same pattern holds for
B. The disturbance causes anxiety about speaking or limitations in learning disorder (LD). The incidence of various types of LDs associated
effective communication, social participation, or academic or with a language disorder is well documented, so one would expect to
occupational performance, individually or in any combination. see increased frequency within a clinical population.
C. The onset of symptoms is in the early developmental period. The perception of communication disorder professionals and people
Note: Later-onset cases are diagnosed as 307.0 [F98.5] in general is that children who stutter experience more anxiety than
adult-onset fluency disorder.
D. The disturbance is not attributable to a speech-motor or sensory
their nonstuttering peers. This in fact is supported by clinical research
deficit, dysfluency associated with neurologic insult (e.g., stroke, that has found considerably higher rates of psychopathology, specifically
tumor, trauma), or another medical condition and is not better social anxiety and generalized anxiety disorder, among adolescents who
explained by another mental disorder. stutter. The frequency of reported anxiety increases with age. To date,
however, the lack of controlled studies should not lead to the assumption
From the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition,
(Copyright 2013). American Psychiatric Association, pp 45–46.)
that stuttering itself places a child or adolescent at greater risk for a
psychiatric disorder of any type. This is not meant to suggest that anxiety
has no impact on a stuttering child’s behavior in specific situations; as
indicated earlier in this chapter, children who stutter frequently avoid
speech output. In addition to elevated repetitions of partial words (as situations that demand speaking.
in stuttering), whole words, and phrases, those who clutter show speech Children who stutter have consistently been found to be bullied more
bursts that are often choppy, and articulation can be slurred and imprecise. than peers. In one study, stutterers were almost 4 times more likely to
The level of awareness of how their speech affects those listening, unlike be bullied than their nonstuttering counterparts. About 45% of those
children who stutter, is minimal for those who clutter. Stammering who stuttered reported being the victim of bullying.
and stuttering are terms used interchangeably, although the former is
used in the United Kingdom and the latter in the United States. “Stammer” DEVELOPMENTAL PROGRESSION
is also used informally to describe when an individual is struggling to Onset of stuttering typically occurs between 2 and 4 yr of age. Severity
express himself and may speak in a halting or “bumbling” manner. of symptoms vary, from pronounced stuttering within a few days of
onset to gradual worsening of symptoms across months. Symptoms
EPIDEMIOLOGY may ebb and flow, including disappearing for weeks before returning,
Although prevalence studies have produced a range of estimates for especially among young children. From 40–75% of young children who
developmental stuttering, it appears that 0.75–1% of the population is stutter will stop spontaneously, typically within months of starting.
experiencing this condition at any one time. Incidence rates are consider- Although predicting which child will stop stuttering is difficult, risk
ably higher: Estimates to date suggest an incidence rate of approximately factors for persisting include stuttering for >1 yr, continued stuttering
5%, with rates considerably higher among young children than older after age 6 yr, and experiencing other speech or language problems.
children or adolescents. Seldom does a child begin stuttering before
2 yr of age or after 12 yr; in fact, the mean age of onset is 2-4 yr, and TREATMENT
most children stop stuttering within 4 yr of onset. Symptoms will disap- Several factors should be considered when deciding to refer a younger
pear within 4 wk for a minority of children. Although studies have child with childhood-onset fluency disorder for therapy. If there is a
consistently shown that the male:female ratio favors males, the magnitude positive family history for stuttering, if symptoms have been present
of the pattern increases as children get older. The ratio among children for >4 wk, and if the dysfluencies are impacting the child’s social,
<5 yr is approximately 2 : 1 and jumps to 4 : 1 among adolescents and behavioral, and emotional functioning, referral is warranted. Although
young adults. there is no cure for stuttering, behavioral therapies are available that are
developed and implemented by SLPs. Treatment emphasizes managing
GENETICS stuttering while speaking by regulating rate of speech and breathing
There is convergent evidence of a genetic link for childhood-onset fluency and helping the child gradually progress from the fluent production
disorder. Concordance rates among MZ twins range from 20–83%, and of syllables to more complex sentences. Approaches to treatment may
for DZ twins, 4–19%. Family aggregation studies suggest increased include parents directly in the process, although even if not active
incidence rate of approximately 15% among first-degree relatives of participants, parents play an important role in the child coping with
those affected, 3 times higher than the 5% rate for the general population. stuttering. Treatment in preschool-age children has been shown to
The variance in risk for stuttering attributed to genetic effects is high, improve stuttering. Management of stuttering is also emphasized in
ranging from 70–85%. Although evidence is limited, stuttering appears older children. For school-age children, treatment includes improving
to be a polygenic condition, and several genes increase susceptibility. not only fluency but also concomitants of the condition. This includes
recognizing and accepting stuttering and appreciating others’ reaction
ETIOLOGY to the child when stuttering, managing secondary behaviors, and
Brain structure and function abnormalities found in stutterers include addressing avoidance behaviors. The broad focus allows for minimiz-
deficits in white matter in the left hemisphere, overactivity in the right ing the adverse effects of the condition. To date, no evidence supports
cortical region, and underactivity in the auditory cortex. Abnormal the use of a pharmacologic agent to treat stuttering in children and
basal ganglia activation has also been identified among stutterers. adolescents.

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Preschool children with normal developmental dysfluency can be
observed with parental education and reassurance. Parents should not
reprimand the child or create undue anxiety.
Preschool or older children with stuttering should be referred to a
speech pathologist. Therapy is most effective if started during the
preschool period. In addition to the risks noted in Table 52.5, indications
for referral include 3 or more dysfluencies per 100 syllables (b-b-but;
th-th-the; you, you, you), avoidances or escapes (pauses, head nod,
blinking), discomfort or anxiety while speaking, and suspicion of an
associated neurologic or psychotic disorder.
Most preschool children respond to interventions taught by speech
pathologists and to behavioral feedback by parents. Parents should not
yell at the child, but should calmly praise periods of fluency (“That was
smooth”) or nonjudgmentally note episodes of stuttering (“That was a
bit bumpy”). The child can be involved with self-correction and respond
to requests (“Can you say that again?”) made by a calm parent. Such
treatment greatly improves dysfluency, but it may never be eliminated.

Bibliography is available at Expert Consult.

Bibliography Laiho A, Klippi A: Long- and short-term results of children’s and adolescents’ therapy
American Psychiatric Association: Diagnostic and statistical manual of mental disorders, courses for stuttering, Int J Lang Commun Disord 42(3):367–382, 2007.
ed 5, Washington, DC, 2013, American Psychiatric Publishing. McAllister J: Behavioural, emotional and social development of children who stutter,
Conture EG, Yaruss JS: Treatment efficacy summary: stuttering, American Speech J Fluency Disord 50:23–32, 2016.
and Hearing Association website. http://www.asha.org/uploadedFiles/public/ Nippold MA: Stuttering and language ability in children: questioning the connection,
TESStuttering.pdf. (Accessed 15 January 2017). Am J Speech Lang Pathol 21:183–196, 2011.
Craig A, Tran Y: Trait and social anxiety in adults with chronic stuttering: conclusions Sasisekaran J: Exploring the link between stuttering and phonology: a review and
following meta-analysis, J Fluency Disord 40:35–43, 2014. implications for treatment, Semin Speech Lang 35(2):95–113, 2014.
Gunn A, Menzies RG, O’Brian S, et al: Axis I anxiety and mental health disorders Yiari Ehud, Seery Carol H: Stuttering: foundations and clinical applications, ed 2,
among stuttering adolescents, J Fluency Disord 40:58–68, 2014. Upper Saddle River, NJ, 2015, Pearson Education.

Conceptual skills include language, reading, writing, time, number

concepts, and self-direction. Social skills include interpersonal skills,
personal and social responsibility, self-esteem, gullibility, naiveté, and
ability to follow rules, obey laws, and avoid victimization. Representative
practical skills are performance of activities of daily living (dressing,
feeding, toileting/bathing, mobility), instrumental activities of daily
living (e.g., housework, managing money, taking medication, shopping,
preparing meals, using phone), occupational skills, and maintenance
of a safe environment. For a deficit in adaptive behavior to be present,
a significant delay in at least 1 of the 3 skill areas must be present. The
rationale for requiring only 1 area is the empirically derived finding
that people with ID can have varying patterns of ability and may not
have deficits in all 3 areas.
The requirement for adaptive behavior deficits is the most controversial
aspect of the diagnostic formulation. The controversy centers on two
broad areas: whether impairments in adaptive behavior are necessary
for the construct of ID, and what to measure. The adaptive behavior
criterion may be irrelevant for many children; adaptive behavior is
impaired in virtually all children who have IQ scores <50. The major
utility of the adaptive behavior criterion is to confirm ID in children
with IQ scores in the 65-75 range. It should be noted that deficits in
adaptive behavior are often found in disorders such as autism spectrum
disorder (ASD; see Chapter 54) and attention-deficit/hyperactivity
disorder (ADHD; see Chapter 49) in the presence of typical intellectual
Chapter 53 function.
The issues of measurement are important as well. The independence
Developmental Delay and of the 3 domains of adaptive behavior has not been validated. The
relationship between adaptive behavior and IQ performance is insuf-

Intellectual Disability ficiently explored. Most adults with mild ID do not have significant
impairments in practical skills. Adaptive behavior deficits also must be
distinguished from maladaptive behavior (e.g., aggression, inappropriate
Bruce K. Shapiro and Meghan E. O’Neill sexual contact).
Onset before age 18 yr or adulthood distinguishes dysfunctions that
originate during the developmental period. The diagnosis of ID may
Intellectual disability (ID) refers to a group of disorders that have in be made after 18 yr of age, but the cognitive and adaptive dysfunction
common deficits of adaptive and intellectual function and an age of must have been manifested before age 18.
onset before maturity is reached. The term “mental retardation” should not be used because it is
stigmatizing, has been used to limit the achievements of the individual,
DEFINITION and has not met its initial objective of assisting people with the disorder.
Contemporary conceptualizations of ID emphasize functioning and The term intellectual disability is increasingly used in its place, but has
social interaction rather than test scores. The definitions of ID by the not been adopted universally. In the United States, Rosa’s law (Public
World Health Organization (WHO) International Classification of Law 111-256) was passed in 2010 and now mandates that the term
Diseases, Tenth Edition (ICD-10), the U.S. Individuals with Disabilities mental retardation be stripped from federal health, education, and labor
Education Act (IDEA), the American Psychiatric Association (APA) policy. As of 2013, at least 9 states persist in using the outdated terminol-
Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition ogy. In Europe the term learning disability is often used to describe ID.
(DSM-5), and the American Association on Intellectual and Develop- Global developmental delay (GDD) is a term often used to describe
mental Disabilities (AAIDD) all include significant impairment in general young children whose limitations have not yet resulted in a formal
intellectual function (reasoning, learning, problem solving), social skills, diagnosis of ID. In DSM-5, GDD is a diagnosis given to children <5 yr
and adaptive behavior. This focus on conceptual, social, and practical of age who display significant delay (>2 SD) in acquiring early childhood
skills enables the development of individual treatment plans designed developmental milestones in 2 or more domains of development. These
to enhance functioning. Consistent across these definitions is onset of domains include receptive and expressive language, gross and fine motor
symptoms before age 18 yr or adulthood. function, cognition, social and personal development, and activities of
Significant impairment in general intellectual function refers to per- daily living. Typically, it is assumed that delay in 2 domains will be
formance on an individually administered test of intelligence that is associated with delay across all domains evaluated, but this is not always
approximately 2 standard deviations (SD) below the mean. Generally the case. Furthermore, not all children who meet criteria for a GDD
these tests provide a standard score that has a mean of 100 and SD of diagnosis at a young age go on to meet criteria for ID after age 5 yr.
15, so that intelligence quotient (IQ) scores <70 would meet these criteria. Reasons for this might include maturational effects, a change in devel-
If the standard error of measurement is considered, the upper limits opmental trajectory (possibly from an intervention), reclassification to
of significantly impaired intellectual function may extend to an IQ of a different disability category, or imprecise use of the GDD diagnosis
75. Using a score of 75 to delineate ID might double the number of initially. Conversely, in patients with more severe delay, the GDD term
children with this diagnosis, but the requirement for impairment is often inappropriately used beyond the point when the child clearly
of adaptive skills limits the false positives. Children with ID often show has ID, often by 3 yr of age.
a variable pattern of strengths and weaknesses. Not all their subtest It is important to distinguish the medical diagnosis of GDD from
scores on IQ tests fall into the significantly impaired range. the federal disability classification of “developmental delay” that may
Significant impairment in adaptive behavior reflects the degree that be used by education agencies under IDEA. This classification requires
the cognitive dysfunction impairs daily function. Adaptive behavior that a child have delays in only 1 domain of development with subsequent
refers to the skills required for people to function in their everyday need for special education. Each state determines its own precise defini-
lives. The AAIDD and DSM-5 classifications of adaptive behavior tion and terms of eligibility under the broader definition outline by
addresses three broad sets of skills: conceptual, social, and practical. IDEA, and many states use the label for children up to age 9 yr.

Keywords
intellectual disability
global developmental delay
GDD
mental deficiency
intellectual developmental disorder
individualized education program
IEP
community-based rehabilitation
CBR

ETIOLOGY
Numerous identified causes of ID may occur prenatally, during delivery, Table 53.1 Identification of Cause in Children With
postnatally, or later in childhood. These include infection, trauma, Significant Intellectual Disability
prematurity, hypoxia-ischemia, toxic exposures, metabolic dysfunction, % OF
endocrine abnormalities, malnutrition, and genetic abnormalities. CAUSE EXAMPLES TOTAL
However, more than two thirds of persons with ID will not have a
Chromosomal Trisomies 21, 18, 13 ~20
readily identifiable underlying diagnosis that can be linked to their disorder Deletions 1p36, 4p, 5p, 11p, 12q,
clinical presentation, meriting further medical evaluation. For those 17p
who then undergo further genetic and metabolic workup, about two Microdeletions; 47,XXX
thirds will have an etiology that is subsequently discovered. There does Klinefelter and Turner syndromes
appear to be 2 overlapping populations of children with ID with differing
Genetic syndrome Fragile X, Prader-Willi, Angelman, ~20
corresponding etiologies. Mild ID (IQ 50-70) is associated more with and Rett syndromes
environmental influences, with the highest risk among children of low
socioeconomic status. Severe ID (IQ <50) is more frequently linked to Nonsyndromic Variations in copy number; de ~10
biologic and genetic causes. Accordingly, diagnostic yield is generally autosomal novo mutations in SYNGAP1,
mutations GRIK2, TUSC3, oligosaccharyl
higher among persons with more severe disability (>75%) than among
transferase, and others
those with mild disability (<50%). With continued advancement of
technologic standards and expansion of our knowledge base, the number Developmental Hydrocephalus ± ~8
of identified biologic and genetic causes is expected to increase. brain abnormality meningomyelocele;
Nongenetic risk factors that are often associated with mild ID include schizencephaly, lissencephaly
low socioeconomic status, residence in a developing country, low maternal Inborn errors of Phenylketonuria, Tay-Sachs ~7
education, malnutrition, and poor access to healthcare. The most common metabolism or disease, various storage
biologic causes of mild ID include genetic or chromosomal syndromes neurodegenerative diseases
with multiple, major, or minor congenital anomalies (e.g., velocardiofacial, disorder
Williams, and Noonan syndromes), intrauterine growth restriction, Congenital HIV, toxoplasmosis, rubella, ~3
prematurity, perinatal insults, intrauterine exposure to drugs of abuse infections cytomegalovirus, syphilis, herpes
(including alcohol), and sex chromosomal abnormalities. Familial simplex
clustering is common. Familial intellectual Environment, syndromic, or ~5
In children with severe ID, a biologic cause (usually prenatal) can disability genetic
be identified in about three fourths of all cases. Causes include chro-
mosomal (e.g., Down, Wolf-Hirschhorn, and deletion 1p36 syndromes) Perinatal causes Hypoxic-ischemic encephalopathy, 4
meningitis, intraventricular
and other genetic and epigenetic disorders (e.g., fragile X, Rett, Angelman,
hemorrhage, periventricular
and Prader-Willi syndromes), abnormalities of brain development (e.g., leukomalacia, fetal alcohol
lissencephaly), and inborn errors of metabolism or neurodegenerative syndrome
disorders (e.g., mucopolysaccharidoses) (Table 53.1). Nonsyndromic
severe ID may be a result of inherited or de novo gene mutations, as Postnatal causes Trauma (abuse), meningitis, ~4
hypothyroidism
well as microdeletions or microduplications not detected on standard
chromosome analysis. Currently, >700 genes are associated with Unknown 20
nonsyndromic ID. Inherited genetic abnormalities may be mendelian
Adapted from Stromme P, Hayberg G: Aetiology in severe and mild mental
(autosomal dominant de novo, autosomal recessive, X-linked) or retardation: a population based study of Norwegian children, Dev Med Child
nonmendelian (imprinting, methylation, mitochondrial defects; see Neurol 42:76–86, 2000.
Chapter 97). De novo mutations may also cause other phenotypic features
such as seizures or autism; the presence of these features suggests more
pleotropic manifestations of genetic mutations. Consistent with the
finding that disorders altering early embryogenesis are the most common stable. Globally, the prevalence of ID has been estimated to be approxi-
and severe, the earlier the problem occurs in development, the more mately 16.4 per 1,000 persons in low-income countries, approximately
severe its consequences tend to be. 15.9/1,000 for middle-income countries, and approximately 9.2/1,000
Etiologic workup is recommended in all cases of GDD or ID. Although in high-income countries. A meta-analysis of worldwide studies from
there are only about 80 disorders (all of which are metabolic in nature) 1980–2009 yielded an overall prevalence of 10.4/1000. ID occurs more in
for which treatment may ameliorate the core symptoms of ID, several boys than in girls, at 2 : 1 in mild ID and 1.5 : 1 in severe ID. In part this
reasons beyond disease modification should prompt providers to seek may be a consequence of the many X-linked disorders associated with
etiologic answers in patients with ID. These include insight into possible ID, the most prominent being fragile X syndrome (see Chapter 98.5).
associated medical or behavioral comorbidities; information on prognosis In 2014–2015 in the United States, approximately 12/1000 students
and life expectancy; estimation of recurrence risk for family planning 3-5 yr old and 6.2/1000 students 6-21 yr old received services for ID
counseling, potential validation, and closure for the family; increased in federally supported school programs. In 2012 the National Survey
access to services or specific supports; and better understanding of of Children’s Health reported an estimated prevalence of ID among
underlying pathology with the hope of new eventual treatment options. American children (age 2-17 yr) of 1.1%. For several reasons, fewer
When surveyed, families of children with ID with no identified underlying children than predicted are identified as having mild ID. Because it is
etiology almost universally report that they would want to know of an more difficult to diagnose mild ID than the more severe forms, profes-
etiologic diagnosis if given the choice. sionals might defer the diagnosis and give the benefit of the doubt to
the child. Other reasons that contribute to the discrepancy are use of
EPIDEMIOLOGY instruments that underidentify young children with mild ID, children
The prevalence of ID depends on the definition, method of ascertainment, diagnosed as having ASD without their ID being addressed, misdiagnosis
and population studied, both in terms of geography and age. According as a language disorder or specific learning disability, and a disinclination
to the statistics of a normal distribution, 2.5% of the population should to make the diagnosis in poor or minority students because of previous
have ID (based on IQ alone), and 75% of these individuals should fall overdiagnosis. In some cases, behavioral disorders may divert the focus
into the mild to moderate range. Variability in rates across populations from the cognitive dysfunction.
likely results from the heavy influence of external environmental factors Beyond potential underdiagnosis of mild ID, the number of children
on the prevalence of mild ID. The prevalence of severe ID is relatively with mild ID may be decreasing as a result of public health and education

measures to prevent prematurity and provide early intervention and CNS maturation is defined in terms of genetic, molecular, autocrine,
Head Start programs. However, although the number of schoolchildren paracrine, and endocrine influences. Receptors, signaling molecules,
who receive services under a federal disability classification of ID has and genes are critical to brain development. The maintenance of different
decreased since 1999, when developmental delay is included in analysis neuronal phenotypes in the adult brain involves the same genetic
of the data, the numbers have not changed appreciably. transcripts that play a crucial role in fetal development, with activation
The prevalence of severe ID has not changed significantly since the of similar intracellular signal transduction mechanisms.
1940s, accounting for 0.3–0.5% of the population. Many of the causes As the ability to identify genetic aberrations that correspond to
of severe ID involve genetic or congenital brain malformations that can particular phenotypes expands through the use of next-generation
neither be anticipated nor treated at present. In addition, new populations sequencing, more will be elucidated about the pathogenesis of ID at a
with severe ID have offset the decreases in the prevalence of severe ID genetic and molecular level. This expanding pathophysiologic knowledge
that have resulted from improved healthcare. Although prenatal diagnosis base may serve as a framework with which to develop targeted therapies
and subsequent pregnancy terminations could lead to a decreasing to bypass or correct newly identified defects. For example, use of histone
incidence of Down syndrome (see Chapter 98.2), and newborn screening deacetylase (HDAC) inhibitors has been shown to rescue structural
with early treatment has virtually eliminated ID caused by phenylke- and functional neural deficits in mouse models of Kabuki syndrome,
tonuria and congenital hypothyroidism, continued high prevalence of a disorder of histone methylation that leads to variable levels of ID and
fetal exposure to illicit drugs and improved survival of very-low- characteristic facial features (see Chapter 100).
birthweight premature infants has counterbalanced this effect.
CLINICAL MANIFESTATIONS
PATHOLOGY AND PATHOGENESIS Early diagnosis of ID facilitates earlier intervention, identification of
The limitations in our knowledge of the neuropathology of ID are abilities, realistic goal setting, easing of parental anxiety, and greater
exemplified by 10–20% of brains of persons with severe ID appearing acceptance of the child in the community. Most children with ID first
entirely normal on standard neuropathologic study. Most of these brains come to the pediatrician’s attention in infancy because of dysmorphisms,
show only mild, nonspecific changes that correlate poorly with the associated developmental disabilities, or failure to meet age-appropriate
degree of ID, including microcephaly, gray matter heterotopias in the developmental milestones (Tables 53.2 and 53.3). There are no specific
subcortical white matter, unusually regular columnar arrangement of physical characteristics of ID, but dysmorphisms may be the earliest
the cortex, and neurons that are more tightly packed than usual. Only signs that bring children to the attention of the pediatrician. They
a minority of the brain shows more specific changes in dendritic and might fall within a genetic syndrome such as Down syndrome or
synaptic organization, with dysgenesis of dendritic spines or cortical might be isolated, as in microcephaly or failure to thrive. Associated
pyramidal neurons or impaired growth of dendritic trees. The program- developmental disabilities include seizure disorders, cerebral palsy,
ming of the central nervous system (CNS) involves a process of induction; and ASD.

Table 53.2 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
Head
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
Coarse, triangular, round, or flat face; hypotelorism or Specific measurements may provide clues to inherited, metabolic, or other
hypertelorism; slanted or short palpebral fissure; unusual diseases such as fetal alcohol syndrome, cri du chat (5p−) syndrome, or Williams
nose, maxilla, and mandible syndrome.
Eyes
Prominent Crouzon, Seckel, and fragile X syndromes
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 pinnae Trisomies such as Down syndrome, Rubinstein-Taybi syndrome, CHARGE
syndrome, cerebrooculofacioskeletal syndrome, fetal phenytoin effects
Hearing Loss of acuity in mucopolysaccharidosis; hyperacusis in many encephalopathies
Heart
Structural anomaly or hypertrophy CHARGE syndrome, velocardiofacial syndrome, glycogenosis type II, fetal alcohol
effects, mucopolysaccharidosis type I; chromosomal anomalies such as Down
syndrome; maternal PKU; chronic cyanosis may impair cognitive development.
Continued

Table 53.2 Physical Examination of a Child With Suspected Developmental Disabilities—cont’d

ITEM POSSIBLE SIGNIFICANCE
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; dermatoglyphics, creases May indicate a specific entity such as Rubinstein-Taybi syndrome or may be
associated with chromosomal anomaly
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
Skin
Café au lait spots Neurofibromatosis, 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
Seborrheic or eczematoid rash PKU, histiocytosis
Hemangiomas and telangiectasia Sturge-Weber syndrome, Bloom syndrome, ataxia-telangiectasia
Hypopigmented macules, streaks, adenoma sebaceum Tuberous sclerosis, hypomelanosis of Ito
Hair
Hirsutism De Lange syndrome, mucopolysaccharidosis, fetal phenytoin effects,
cerebrooculofacioskeletal syndrome, trisomy 18, Wiedemann-Steiner syndrome
(hypertrichosis cubiti)
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
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.
From Simms M: Intellectual and developmental disability. In Kliegman RM, Lye PS, Bordini BJ, et al, editors: Nelson pediatric symptom-based diagnosis,
Philadelphia, 2018, Elsevier, Table 24.11, p 376.

Table 53.3 Examples of Minor Anomalies and Associated Syndromes*†

AREA ANOMALY/SYNDROME AREA ANOMALY/SYNDROME
Head Flat occiput: Down syndrome, Zellweger syndrome; Ears Large pinnae/simple helices: fragile X syndrome
prominent occiput: trisomy 18 Malformed pinnae/atretic canal: Treacher Collins
Delayed closure of sutures: hypothyroidism, syndrome, CHARGE syndrome
hydrocephalus Low-set ears: Treacher Collins syndrome, trisomies,
Craniosynostosis: Crouzon syndrome, Pfeiffer syndrome multiple disorders
Delayed fontanel closure: hypothyroidism, Down
Nose Anteverted nares/synophrys: Cornelia de Lange
syndrome, hydrocephalus, skeletal dysplasias
syndrome; broad nasal bridge: fetal drug effects,
Face Midface hypoplasia: fetal alcohol syndrome, Down fragile X syndrome
syndrome Low nasal bridge: achondroplasia, Down syndrome
Triangular facies: Russell-Silver syndrome, Turner Prominent nose: Coffin-Lowry syndrome, Smith-Lemli-
syndrome Opitz syndrome
Coarse facies: mucopolysaccharidoses, Sotos syndrome
Mouth Long philtrum/thin vermilion border: fetal alcohol
Prominent nose and chin: fragile X syndrome
effects
Flat facies: Apert syndrome, Stickler syndrome
Cleft lip and palate: isolated or part of a syndrome
Round facies: Prader-Willi syndrome
Micrognathia: Pierre Robin sequence, trisomies, Stickler
Eyes Hypertelorism: fetal hydantoin syndrome, Waardenburg syndrome
syndrome Macroglossia: hypothyroidism, Beckwith-Wiedemann
Hypotelorism: holoprosencephaly sequence, maternal syndrome
phenylketonuria effect
Teeth Anodontia: ectodermal dysplasia
Inner canthal folds/Brushfield spots: Down syndrome;
Notched incisors: congenital syphilis
slanted palpebral fissures: trisomies
Late dental eruption: Hunter syndrome, hypothyroidism
Prominent eyes: Apert syndrome, Beckwith-Wiedemann
Talon cusps: Rubinstein-Taybi syndrome
syndrome
Wide-spaced teeth: Cornelia de Lange syndrome,
Lisch nodules: neurofibromatosis
Angelman syndrome
Blue sclera: osteogenesis imperfecta, Turner syndrome,
hereditary connective tissue disorders
Continued

Table 53.3 Examples of Minor Anomalies and Associated Syndromes*†—cont’d

AREA ANOMALY/SYNDROME AREA ANOMALY/SYNDROME
Hair Hirsutism: Hurler syndrome Extremities Short limbs: achondroplasia, rhizomelic chondrodysplasia
Low hairline: Klippel-Feil sequence, Turner syndrome Small hands: Prader-Willi syndrome
Sparse hair: Menkes disease, argininosuccinic Clinodactyly: trisomies, including Down syndrome
acidemia Polydactyly: trisomy 13, ciliopathies
Abnormal hair whorls/posterior whorl: chromosomal Broad thumb: Rubinstein-Taybi syndrome
aneuploidy (e.g., Down syndrome) Syndactyly: de Lange syndrome
Abnormal eyebrow patterning: Cornelia de Lange Transverse palmar crease: Down syndrome
syndrome Joint laxity: Down syndrome, fragile X syndrome,
Ehlers-Danlos syndrome
Neck Webbed neck/low posterior hairline: Turner syndrome, Phocomelia: Cornelia de Lange syndrome
Noonan syndrome
Spine Sacral dimple/hairy patch: spina bifida
Chest Shield-shaped chest: Turner syndrome
Skin Hypopigmented macules/adenoma sebaceum: tuberous
Genitalia Macroorchidism: fragile X syndrome sclerosis
Hypogonadism: Prader-Willi syndrome Café au lait spots and neurofibromas: neurofibromatosis
Linear depigmented nevi: hypomelanosis of Ito
Facial port-wine hemangioma: Sturge-Weber syndrome
Nail hypoplasia or dysplasia: fetal alcohol syndrome,
trisomies
CHARGE, Coloboma, heart defects, atresia choanae, retarded growth, genital anomalies, ear anomalies (deafness).
*Increased incidence of minor anomalies have been reported in cerebral palsy, intellectual disability, learning disabilities, and autism.
†The presence of 3 or more minor anomalies implies a greater chance that the child has a major anomaly and a diagnosis of a specific syndrome.
Modified from Levy SE, Hyman SL. Pediatric assessment of the child with developmental delay, Pediatr Clin North Am 40:465-477, 1993.

level, their mild ID might not be appreciated, even by professionals,

Table 53.4 Common Presentations of Intellectual who may be their special education teachers or healthcare providers.
Disability by Age Because of the stigma associated with ID, adolescents may use euphe-
AGE AREA OF CONCERN misms to avoid being thought of as “stupid” or “retarded” and may
refer to themselves as learning disabled, dyslexic, language disordered,
Newborn Dysmorphic syndromes, (multiple
or slow learners. Some people with ID emulate their social milieu to
congenital anomalies), microcephaly
Major organ system dysfunction (e.g., be accepted. They may be social chameleons and assume the morals of
feeding, breathing) the group to whom they are attached. Some would rather be thought
“bad” than “incompetent.”
Early infancy (2-4 mo) Failure to interact with the environment Children with ID have a nonprogressive disorder; loss of developmental
Concerns about vision and hearing
milestones or progressive symptoms suggest another disorder (see
impairments
Chapter 53.1).
Later infancy (6-18 mo) Gross motor delay
Toddlers (2-3 yr) Language delays or difficulties DIAGNOSTIC EVALUATION
Intellectual disability is one of the most frequent reasons for referral
Preschool (3-5 yr) Language difficulties or delays to pediatric genetic providers, with separate but similar diagnostic
Behavior difficulties, including play
evaluation guidelines put forth by the American College of Medical
Delays in fine motor skills: cutting,
coloring, drawing Genetics, the American Academy of Neurology, the American Academy
of Pediatrics (AAP), and the American Academy of Child and Adolescent
School age (>5 yr) Academic underachievement Psychiatry. ID is a diagnosis of great clinical heterogeneity, with only
Behavior difficulties (e.g., attention, a subset of syndromic etiologies identifiable through classic dysmorphol-
anxiety, mood, conduct)
ogy. If diagnosis is not made after conducting an appropriate history
and physical examination, chromosomal microarray is the recommended
first step in the diagnostic evaluation of ID. Next-generation sequencing
represents the new diagnostic frontier, with extensive gene panels (exome
or whole genome) that increase the diagnostic yield and usefulness of
Most children with ID do not keep up with their peers’ developmental genetic testing in ID. Other commonly used medical diagnostic testing
skills. In early infancy, failure to meet age-appropriate expectations can for children with ID includes neuroimaging, metabolic testing, and
include a lack of visual or auditory responsiveness, unusual muscle tone electroencephalography (Fig. 53.1).
(hypo- or hypertonia) or posture, and feeding difficulties. Between 6 Decisions to pursue an etiologic diagnosis should be based on the
and 18 mo of age, gross motor delay (lack of sitting, crawling, walking) medical and family history, physical examination, and the family’s wishes.
is the most common complaint. Language delay and behavior problems Table 53.5 summarizes clinical practice guidelines and the yields of
are common concerns after 18 mo (Table 53.4). For some children with testing to assist in decisions about evaluating the child with GDD or
mild ID, the diagnosis remains uncertain during the early school years. ID. Yield of testing tends increase with worsening severity of delays.
It is only after the demands of the school setting increase over the years, Microarray analysis has replaced a karyotype as first-tier testing
changing from “learning to read” to “reading to learn,” that the child’s given that it discerns abnormalities that are far below the resolution of
limitations are clarified. Adolescents with mild ID are typically up to a karyotype. Microarray analysis may identify variants of unknown
date on current trends and are conversant as to “who,” “what,” and significance or benign variants and therefore should be used in conjunc-
“where.” It is not until the “why” and “how” questions are asked that tion with a genetic consultation. Karyotyping has a role when concerns
their limitations become apparent. If allowed to interact at a superficial for inversions, balanced insertions, and reciprocal translocations are

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 :
X
Biochemical testing as indicated based on presence of white matter disease, basal ganglia involvement syndromes
Testing for congenital disorders of glycosylation and similar disorders
Plasma VLCFA, pipecolic acid, phytanic acid, RBC plasmalogens Panel based testing :
Serum 7-dehydrocholesterol panel if X-linked inheritance
Ceruloplasmin, CSF glucose, lactate, pyruvate, glycine, folate, neurotransmitters Autism-associated genetic disorders
related syndromes
disorders
WES / WGS

Fig. 53.1 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,
glycosaminoglycans; 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; X-linked intellectual disability
genes.

present. Fluorescence in situ hybridization (FISH) and subtelomeric markers of cerebral dysgenesis in children with ID, but these markers
analysis have been largely replaced by microarray analysis but are do not usually suggest a specific etiologic diagnosis.
occasionally used for specific indications. If microarray analysis is not Some children with subtle physical or neurologic findings can also
diagnostic, whole exome sequencing increases the diagnostic yield in have determinable biologic causes of their ID (see Tables 53.2 and 53.3).
many children with nonsyndromic severe ID. Starting with whole exome How intensively one investigates the cause of a child’s ID is based on
sequencing may be more cost-effective and may substantially reduce the following factors:
time to diagnosis with higher ultimate yields compared with the tra- ◆ What is the degree of delay, and what is the age of the child? If milder
ditional diagnostic pathway. or less pervasive delays are present, especially in a younger child,
Molecular genetic testing for fragile X syndrome is recommended etiologic yield is likely to be lower.
for all children presenting with GDD. Yields are highest in males with ◆ Is the medical history, family history, or physical exam suggestive of
moderate ID, unusual physical features, and/or a family history of ID, a specific disorder, increasing the likelihood that a diagnosis will be
or for females with more subtle cognitive deficits associated with severe made? Are the parents planning on having additional children, and
shyness and a relevant family history, including premature ovarian failure does the patient have siblings? If so, one may be more likely to
or later-onset ataxia-tremor symptoms. For children with a strong history intensively seek disorders for which prenatal diagnosis or a specific
of X-linked ID, specific testing of genes or the entire chromosome may early treatment option is available.
be revealing. Testing for Rett syndrome (MECP2, methyl CpG–binding ◆ What are the parents’ wishes? Some parents have little interest in
protein 2) should be considered in girls with moderate to severe searching for the cause of the ID, whereas others become so focused
disability. on obtaining a diagnosis that they have difficulty following through
A child with a progressive neurologic disorder, developmental regres- on interventions until a cause has been found. The entire spectrum
sion, or acute behavioral changes needs metabolic investigation as shown of responses must be respected, and supportive guidance should be
in Figure 53.1. Some are advocating that metabolic testing should be provided in the context of the parents’ education.
done more frequently in children with ID because of the possibility of
detecting a condition that could be treatable (Fig. 53.2 and Table 53.6). DIFFERENTIAL DIAGNOSIS
A child with seizure-like episodes should have an electroencephalogram One of the important roles of pediatricians is the early recognition and
(EEG), although this testing is generally not helpful outside the scope diagnosis of cognitive deficits. The developmental surveillance approach
of ruling out seizures. MRI of the brain may provide useful information to early diagnosis of ID should be multifaceted. Parents’ concerns and
in directing the care of a child with micro- or macrocephaly, change observations about their child’s development should be listened to
in head growth trajectory, asymmetric head shape, new or focal neurologic carefully. Medical, genetic, and environmental risk factors should be
findings, or seizure. MRI can detect a significant number of subtle recognized. Infants at high risk (prematurity, maternal substance abuse,

Table 53.5 Suggested Evaluation of the Child With Intellectual Disability (ID) or Global Developmental Delay (GDD)
TEST COMMENT
In-depth history Includes pre-, peri-, and postnatal events (including seizures); developmental attainments; and 3-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
Karyotype Yield of 4% in ID/GDD (18.6% if syndromic features, 3% excluding trisomy 21)
Best for inversions and balanced insertions, reciprocal translocations, and polyploidy
Fragile X screen Combined yield of 2%
Preselection on clinical grounds can increase yield to 7.6%
Next-generation gene Detects inherited and de novo point mutations, especially in nonsyndromic severe intellectual disability
sequencing Whole exome sequencing (WES, introduced in 2010) gives an additional yield of about 30–40%.
Although not yet used clinically, 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 perinatal
period and have 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
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 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 77:1629-35, 2011; Curry CJ et al: Evaluation of
mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics, Am J Med Genet 12:72:468-477, 1997; Shapiro BK,
Batshaw ML: Mental retardation. In Burg FD et al: Gellis and Kagan’s current pediatric therapy, ed 18, Philadelphia, 2005, Saunders; and Shevell M et al: Practice
parameter: evaluation of the child with global developmental delay, Neurology 60:367–380, 2003.

perinatal insult) should be registered in newborn follow-up programs changes. In autism spectrum disorders, language and social adaptive
in which they are evaluated periodically for developmental lags in the skills are more affected than nonverbal reasoning skills, whereas in ID,
1st 2 yr of life; they should be referred to early intervention programs there are usually more equivalent deficits in social, fine motor, adaptive,
as appropriate. Developmental milestones should be recorded routinely and cognitive skills.
during healthcare maintenance visits. The AAP has formulated a schema
for developmental surveillance and screening (see Chapter 28). DIAGNOSTIC PSYCHOLOGIC TESTING
Before making the diagnosis of ID, other disorders that affect cognitive The formal diagnosis of ID requires the administration of individual
abilities and adaptive behavior should be considered. These include tests of intelligence and adaptive functioning.
conditions that mimic ID and others that involve ID as an associated The Bayley Scales of Infant and Toddler Development (BSID-III), the
impairment. Sensory deficits (severe hearing and vision loss), com- most commonly used infant intelligence test, provides an assessment
munication disorders, refractory seizure disorders, poorly controlled of cognitive, language, motor, behavior, social-emotional, and general
mood disorders, or unmanaged severe attention deficits can mimic ID; adaptive abilities between 1 mo and 42 mo of age. Mental Developmental
certain progressive neurologic disorders can appear as ID before regres- Index (MDI) and Psychomotor Development Index (PDI, a measure
sion is appreciated. Many children with cerebral palsy (see Chapter of motor competence) scores are derived from the results. The BSID-III
616.1) or ASD (Chapter 54) also have ID. Differentiation of isolated permits the differentiation of infants with severe ID from typically
cerebral palsy from ID relies on motor skills being more affected than developing infants, but it is less helpful in distinguishing between a
cognitive skills and on the presence of pathologic reflexes and tone typical child and one with mild ID.

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. Proprionic 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 Metabolities (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. 53.2 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 105:368–381, 2012, Fig 1, p 374.)

Table 53.6 Treatable Intellectual Disability Endeavor (TIDE) Diagnostic Protocol

Tier 1: Nontargeted Metabolic Screening to Identify 54 (60%) Targeted gene sequencing/molecular panel
Treatable IEM Other
Blood
Plasma amino acids Tier 3: Targeted Workup to Identify 35 (40%) Treatable IEM
Plasma total homocysteine Requiring Specific Testing
Acylcarnitine profile According to patient’s symptomatology and clinician’s expertise
Copper, ceruloplasmin Utilization of digital tools (www.treatable-id.org)
Urine Specific biochemical/gene test
Organic acids Whole blood manganese
Purines and pyrimidines Plasma cholestanol
Creatine metabolites Plasma 7-dehydroxycholesterol:cholesterol ratio
Oligosaccharides Plasma pipecolic acid and urine α-amino adipic semialdehyde
Glycosaminoglycans (AASA)
Amino acids (when indicated) Plasma very-long-chain fatty acids
Plasma vitamin B12 and folate
Tier 2: Current Practice Adhering to International Guidelines* Serum and CSF lactate to pyruvate ratio
(1 or more of:) Enzyme activities (leukocytes): arylsulfatase A, biotinidase,
Audiology glucocerebrosidase, fatty aldehyde dehydrogenase
Ophthalmology Urine deoxypyridinoline
Cytogenetic testing (array CGH) CSF amino acids
Thyroid studies CSF neurotransmitters
Complete blood count (CBC) CSF-to-plasma glucose ratio
Lead CoQ measurement: fibroblasts
Metabolic testing Molecular analysis: CA5A, NPC1, NPC2, SC4MOL, SLC18A2,
Brain MRI and 1H spectroscopy (where available) SLC19A3, SLC30A10, SLC52A2, SLC52A3, PDHA1, DLAT, PDHX,
Fragile X 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 19(9):469–471, 2014.

The most commonly used psychologic tests for children older than screening in a child with Down syndrome is an example of presymp-
3 yr are the Wechsler Scales. The Wechsler Preschool and Primary Scale tomatic testing in a disorder associated with ID.
of Intelligence, Fourth Edition (WPPSI-IV) is used for children with
mental ages of 2.5-7.6 yr. The Wechsler Intelligence Scale for Children, TREATMENT
Fifih Edition (WISC-V) is used for children who function above a 6 yr Although the core symptoms of ID itself are generally not treatable,
mental age. Both scales contain numerous subtests in the areas of verbal many associated impairments are amenable to intervention and therefore
and performance skills. Although children with ID usually score below benefit from early identification. Most children with an ID do not have
average on all subscale scores, they occasionally score in the average a behavioral or emotional disorder as an associated impairment, but
range in one or more performance areas. challenging behaviors (aggression, self-injury, oppositional defiant
Several normed scales are used in practice to evaluate adaptive behavior) and mental illness (mood and anxiety disorders) occur with
functioning. For example, the Vineland Adaptive Behavior Scale (VABS-3) greater frequency in this population than among children with typical
uses semistructured interviews with parents and caregivers/teachers to intelligence. These behavioral and emotional disorders are the primary
assess adaptive behavior in 4 domains: communication, daily living cause for out-of-home placements, increased family stress, reduced
skills, socialization, and motor skills. Other tests of adaptive behavior employment prospects, and decreased opportunities for social integration.
include the Woodcock-Johnson Scales of Independent Behavior–Revised, Some behavioral and emotional disorders are diftcult to diagnose in
the AAIDD Diagnostic Adaptive Behavior Scale (DABS), and the Adaptive children with more severe ID because of the child’s limited abilities to
Behavior Assessment System (ABAS-3). There is usually (but not always) understand, communicate, interpret, or generalize. Other disorders are
a good correlation between scores on the intelligence and adaptive masked by the ID. The detection of ADHD (see Chapter 49) in the
scales. However, it is important to recognize that adaptive behavior can presence of moderate to severe ID may be diftcult, as may be discerning
by inffuenced by environmentally based opportunities as well as family a thought disorder (psychosis) in someone with autism and ID.
or cultural expectations. Basic practical adaptive skills (feeding, dressing, Although mental illness is generally of biologic origin and responds
hygiene) are more responsive to remedial eflorts than is the IQ score. to medication, behavioral disorders can result from a mismatch between
Adaptive abilities are also more variable over time, which may be related the child’s abilities and the demands of the situation, organic problems,
to the underlying condition and environmental expectations. and family diftculties. These behaviors may represent attempts by the
child to communicate, gain attention, or avoid frustration. In assessing
COMPLICATIONS the challenging behavior, one must also consider whether it is inap-
Children with ID have higher rates of vision, hearing, neurologic, propriate for the child’s mental age, rather than the chronological age.
orthopedic, and behavioral or emotional disorders than typically When intervention is needed, an environmental change, such as a more
developing children. These other problems are offien detected later in appropriate classroom setting, may improve certain behavior problems.
children with ID. If untreated, the associated impairments can adversely Behavior management techniques are useful; psychopharmacologic
aflect the individual’s outcome more than the ID itself. agents may be appropriate in certain situations.
The more severe the ID, the greater are the number and severity of No medication has been found that improves the core symptoms of
associated impairments. Knowing the cause of the ID can help predict ID. However, several agents are being tested in specific disorders with
which associated impairments are most likely to occur. Fragile X syn- known biologic mechanisms (e.g., mGluR5 inhibitors in fragile X
drome and fetal alcohol syndrome (see Chapter 126.3) are associated with syndrome, mTOR inhibitors in tuberous sclerosis), with the hope for
a high rate of behavioral disorders; Down syndrome has many medical future pharmacologic options that could alter the natural course of
complications (hypothyroidism, obstructive sleep apnea, congenital heart cognitive impairment seen in patients with these disorders. Currently,
disease, atlantoaxial subluxation). Associated impairments can require medication is most useful in the treatment of associated behavioral and
ongoing physical therapy, occupational therapy, speech-language therapy, psychiatric disorders. Psychopharmacology is generally directed at
behavioral therapy, adaptive and mobility equipment, glasses, hearing specific symptom complexes, including ADHD (stimulant medication),
aids, and medication. Failure to identify and treat these impairments self-injurious behavior and aggression (antipsychotics), and anxiety,
adequately can hinder successful habilitation and result in diftculties obsessive-compulsive disorder, and depression (selective serotonin
in the school, home, and neighborhood environment. reuptake inhibitors). Even if a medication proves successful, its use
should be reevaluated at least yearly to assess the need for continued
PREVENTION treatment.
Examples of primary programs to prevent ID include the following:
◆ Increasing the public’s awareness of the adverse eflects of alcohol SUPPORTIVE CARE AND MANAGEMENT
and other drugs of abuse on the fetus (the most common preventable Each child with ID needs a medical home with a pediatrician who is
cause of ID in the Western world is fetal alcohol exposure). readily accessible to the family to answer questions, help coordinate
◆ Encouraging safe sexual practices, preventing teen pregnancy, and care, and discuss concerns. Pediatricians can have eflects on patients
promoting early prenatal care with a focus on preventive programs and their families that are still felt decades later. The role of the pediatri-
to limit transmission of diseases that may cause congenital infection cian includes involvement in prevention eflorts, early diagnosis, identifica-
(syphilis, toxoplasmosis, cytomegalovirus, HIV). tion of associated deficits, referral for appropriate diagnostic and
◆ Preventing traumatic injury by encouraging the use of guards, railings, therapeutic services, interdisciplinary management, provision of primary
and window locks to prevent falls and other avoidable injuries in care, and advocacy for the child and family. The management strategies
the home; using appropriate seat restraints when driving; wearing a for children with an ID should be multimodal, with eflorts directed at
safety helmet when biking or skateboarding; limiting exposure to all aspects of the child’s life: health, education, social and recreational
firearms. activities, behavior problems, and associated impairments. Support for
◆ Preventing poisonings by teaching parents about locking up medica- parents and siblings should also be provided.
tions and potential poisons.
◆ Implementing immunization programs to reduce the risk of ID caused Primary Care
by encephalitis, meningitis, and congenital infection. For children with an ID, primary care has the following important
Presymptomatic detection of certain disorders can result in treatment components:
that prevents adverse consequences. State newborn screening by tandem ◆ Provision of the same primary care received by all other children of
mass spectrometry (now including >50 rare genetic disorders in most similar chronological age.
states), newborn hearing screening, and preschool lead poisoning ◆ Anticipatory guidance relevant to the child’s level of function: feeding,
prevention programs are examples. Additionally, screening for comorbid toileting, school, accident prevention, sexuality education.
conditions can help to limit the extent of disability and maximize level ◆ Assessment of issues that are relevant to that child’s disorder, such
of functioning in certain populations. Annual thyroid, vision, and hearing as dental examination in children who exhibit bruxism, thyroid

function in children with Down syndrome, and cardiac function in participation among adults with ID is much lower than that of the
Williams syndrome (see Chapter 454.5). typical population, stressing the importance of promoting involvement
The AAP has published a series of guidelines for children with specific in social activities such as dances, trips, dating, extracurricular sports,
genetic disorders associated with ID (Down syndrome, fragile X syn- and other social-recreational events at an early age. Participation in
drome, and Williams syndrome). Goals should be considered and sports should be encouraged (even if the child is not competitive) because
programs adjusted as needed during the primary care visit. Decisions it oflers many benefits, including weight management, development
should also be made about what additional information is required for of physical coordination, maintenance of cardiovascular fitness, and
future planning or to explain why the child is not meeting expectations. improvement of self-image.
Other evaluations, such as formal psychologic or educational testing,
may need to be scheduled. Family Counseling
Many families adapt well to having a child with ID, but some have
Interdisciplinary Management emotional or social diftculties. The risks of parental depression and
The pediatrician has the responsibility for consulting with other disci- child abuse and neglect are higher in this group of children than in the
plines to make the diagnosis of ID and coordinate treatment services. general population. The factors associated with good family coping and
Consultant services may include psychology, speech-language pathology, parenting skills include stability of the marriage, good parental self-
physical therapy, occupational therapy, audiology, nutrition, nursing, esteem, limited number of siblings, higher socioeconomic status, lower
and social work, as well as medical specialties such as neurodevelopmental degree of disability or associated impairments (especially behavioral),
disabilities, neurology, genetics, physical medicine and rehabilitation, parents’ appropriate expectations and acceptance of the diagnosis,
psychiatry, developmental-behavioral pediatricians, and surgical special- supportive extended family members, and availability of community
ties. Contact with early intervention and school personnel is equally programs and respite care services. In families in whom the emotional
important to help prepare and assess the adequacy of the child’s individual burden of having a child with ID is great, family counseling, parent
family service plan or individual educational plan. The family should support groups, respite care, and home health services should be an
be an integral part of the planning and direction of this process. Care integral part of the treatment plan.
should be family centered and culturally sensitive; for older children,
their participation in planning and decision-making should be promoted Transition to Adulthood
to whatever extent possible. Transition to adulthood in adolescents with intellectual disabilities can
present a stressful and chaotic time for both the individual and the
Periodic Reevaluation family, just as it does among young adults of typical intelligence. A
The child’s abilities and the family’s needs change over time. As the successful transition strongly correlates to later improved quality of life
child grows, more information must be provided to the child and but requires significant advanced planning. In moving from child to
family, goals must be reassessed, and programming needs should adult care, families tend to find that policies, systems, and services are
be adjusted. A periodic review should include information about more fragmented, less readily available, and more diftcult to navigate.
the child’s health status as well as the child’s functioning at home, at Several domains of transition must be addressed, such as education and
school, and in other community settings. Other information, such as employment, health and living, finances and independence, and social
formal psychologic or educational testing, may be helpful. Reevalua- and community life. Specific issues to manage include transitioning to
tion should be undertaken at routine intervals (every 6-12 mo during an adult healthcare provider, determining the need for decision-making
early childhood), at any time the child is not meeting expectations, or assistance (e.g., guardianship, medical power of attorney), securing
when the child is moving from one service delivery system to another. government benefits affier aging out of youth-based programs (e.g., SSI,
This is especially true during the transition to adulthood, beginning at medical assistance), agreeing on the optimal housing situation, applying
age 16, as mandated by the IDEA Amendments of 2004, and lasting for state disability assistance programs, and addressing caretaker estate
through age 21, when care should be transitioned to adult-based systems planning as it applies to the individual with ID (e.g., special needs trusts).
and providers. Following graduation from high school, options for continued educa-
tion or entry into the workforce should be thoroughly considered, with
Federal and Education Services the greater goal of ultimate community-based employment. Although
Education is the single most important discipline involved in the treat- employment is a critical element of life adaptation for persons with ID,
ment of children with an ID. The educational program must be relevant only 15% are estimated to have jobs, with significant gaps in pay and
to the child’s needs and address the child’s individual strengths and compensation compared to workers without disability. Early planning and
weaknesses. The child’s developmental level, requirements for support, expansion of opportunities can help to reduce barriers to employment.
and goals for independence provide a basis for establishing an individual- Post–secondary education possibilities might involve community college
ized education program (IEP) for school-age children, as mandated or vocational training. Employment selection should be “customized” to
by federal legislation. the individual’s interests and abilities. Options may include participation
Beyond education services, families of children with ID are offien in in competitive employment, supported employment, high school–to–work
great need of federal or state-provided social services. All states ofler transition programs, job-coaching programs, and consumer-directed
developmental disabilities programs that provide home and community- voucher programs.
based services to eligible children and adults, potentially including
in-home supports, care coordination services, residential living arrange- PROGNOSIS
ments, and additional therapeutic options. A variety of Medicaid waiver In children with severe ID, the prognosis is offien evident by early
programs are also oflered for children with disabilities within each state. childhood. Mild ID might not always be a lifelong disorder. Children
Children with ID who live in low socioeconomic status households might meet criteria for GDD at an early age, but later the disability can
should qualify to receive supplemental security income (SSI). Of note, evolve into a more specific developmental disorder (communication
in 2012, an estimated >40% of children with ID did not receive SSI disorder, autism, specific learning disability, or borderline normal
benefits for which they would have been eligible, indicating an untapped intelligence). Others with a diagnosis of mild ID during their school
potential resource for many families. years may develop suftcient adaptive behavior skills that they no longer
fit the diagnosis as adolescents or young adults, or the eflects of matura-
Leisure and Recreational Activities tion and plasticity may result in children moving from one diagnostic
The child’s social and recreational needs should be addressed. Although category to another (from moderate to mild ID). Conversely, some
young children with ID are generally included in play activities with children who have a diagnosis of a specific learning disability or com-
children who have typical development, adolescents with ID offien do munication disorder might not maintain their rate of cognitive growth
not have opportunities for appropriate social interactions. Community and may fall into the range of ID over time.

The apparent higher prevalence of ID in low- and middle-income functional literacy, but they may need periodic supervision (especially
countries is of concern given the limitations in available resources. when under social or economic stress). Most live successfully in the
Community-based rehabilitation (CBR) is an eflort promoted by WHO community, either independently or in supervised settings.
over the past 4 decades as a means of making use of existing community For persons with moderate ID, the goals of education are to enhance
resources for persons with disabilities in low-income countries with adaptive abilities and “survival” academic and vocational skills so they
the goal of increasing inclusion and participation within the community. are better able to live and function in the adult world (Table 53.7). The
CBR is now being implemented in >90 countries, although the eftcacy concept of supported employment has been very beneficial to these
of such programs has not been established. individuals; the person is trained by a coach to do a specific job in the
The long-term outcome of persons with ID depends on the underlying setting where the person is to work, bypassing the need for a “sheltered
cause, degree of cognitive and adaptive deficits, presence of associated workshop” experience and resulting in successful work adaptation in
medical and developmental impairments, capabilities of the families, the community. These persons generally live at home or in a supervised
and school and community supports, services, and training provided setting in the community.
to the child and family (Table 53.7). As adults, many persons with mild As adults, people with severe to profound ID usually require extensive
ID are capable of gaining economic and social independence with to pervasive supports (Table 53.7). These individuals may have associated
impairments, such as cerebral palsy, behavioral disorders, epilepsy, or
sensory impairments, that further limit their adaptive functioning. They
can perform simple tasks in supervised settings. Most people with this
Table 53.7 Severity of Intellectual Disability and level of ID can live in the community with appropriate supports.
Adult-Age Functioning The life expectancy of people with mild ID is similar to the general
MENTAL AGE population, with a mean age at death in the early 70s. However, persons
LEVEL AS ADULT ADULT ADAPTATION with severe and profound ID have a decreased life expectancy at all
ages, presumably from associated serious neurologic or medical disorders,
Mild 9-11 yr Reads at 4th-5th grade level; simple
multiplication and division; writes
with a mean age at death in the mid-50s. Given that persons with ID
simple letter, lists; completes job are living longer and have high rates of comorbid health conditions in
application; basic independent adulthood (e.g., obesity, hypertension, diabetes), ID is now one of the
job skills (arrive on time, stay at costliest ICD-10 diagnoses, with an average lifetime cost of 1-2 million
task, interact with coworkers); dollars per person. Thus the priorities for pediatricians are to improve
uses public transportation, might healthcare delivery systems during childhood, facilitate the transition
qualify for driver’s license; keeps of care to adult providers, and ensure high-quality, integrated community-
house, cooks using recipes based services for all persons with ID.
Moderate 6-8 yr Sight-word reading; copies
information (e.g., address from Bibliography is available at Expert Consult.
card to job application); matches
written number to number
of items; recognizes time on
clock; communicates; some 53.1 Intellectual Disability With Regression
independence in self-care;
Bruce K. Shapiro and Meghan E. O’Neill
housekeeping with supervision
or cue cards; meal preparation,
can follow picture recipe cards; The patients discussed in Chapter 53 with intellectual disability (ID)
job skills learned with much usually have a static and nonprogressive disease course. They may acquire
repetition; uses public new developmental milestones, although at a slower rate than unaflected
transportation with some children, or they may remain fixed at a particular developmental stage.
supervision Regression of milestones in these children may be caused by increasing
Severe 3-5 yr Needs continuous support and spasticity or contractures, new-onset seizures or a movement disorder,
supervision; might communicate or the progression of hydrocephalus.
wants and needs, sometimes with Nonetheless, regression or loss of milestones should suggest a
augmentative communication progressive encephalopathy caused by an inborn error of metabolism,
techniques including disorders of energy metabolism and storage disorders, or
Profound <3 yr Limitations of self-care, continence, a neurodegenerative disorder, including disorders of the whole brain
communication, and mobility; (difluse encephalopathies), white matter (leukodystrophies), cerebral
might need complete custodial or cortex, and basal ganglia as well as spinocerebellar disorders (Table
nursing care 53.8) (see Chapters 616 and 617).
Data from World Health Organization: International Statistical Classification of
Diseases and Related Health Problems, 10th revision, Geneva, 2011, WHO. Bibliography is available at Expert Consult.

Table 53.8 Causes of Progressive Encephalopathy

ONSET BEFORE AGE 2 YEARS Guanidinoacetate methyltransferase deficiency*
Acquired Immunodeficiency Syndrome Encephalopathy* Hyperammonemic disorders

Disorders of Amino Acid Metabolism Disorders of Lysosomal Enzymes

Guanidinoacetate methyltransferase deficiency* Ganglioside storage disorders
Homocystinuria (21q22)* GM1 gangliosidosis
Maple syrup urine disease (intermediate and thiamine response GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease)
forms)* Gaucher disease type II (glucosylceramide lipidosis)*
Phenylketonuria Globoid cell leukodystrophy (Krabbe disease)

Continued

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Table 53.8 Causes of Progressive Encephalopathy—cont’d
Glycoprotein degradation disorders ONSET AFTER AGE 2 YEARS
I-cell disease Disorders of Lysosomal Enzymes
Mucopolysaccharidoses* Gaucher disease type III (glucosylceramide lipidosis)
Type I (Hurler Syndrome)* Globoid cell leukodystrophy (late-onset Krabbe disease)
Type III (Sanfilippo disease) Glycoprotein degradation disorders
Niemann-Pick disease type A (sphingomyelin lipidosis) Aspartylglycosaminuria
Sulfatase deficiency disorders Mannosidosis type II
Metachromatic leukodystrophy (sulfatide lipidoses) GM2 gangliosidosis (juvenile Tay-Sachs disease)
Multiple sulfatase deficiency Metachromatic leukodystrophy (late-onset sulfatide lipidoses)
Mucopolysaccharidoses types II and VII
Carbohydrate-Deficient Glycoprotein Syndromes Niemann-Pick type C (sphingomyelin lipidosis)
Hypothyroidism* Infectious Disease
Acquired immunodeficiency syndrome encephalopathy*
Mitochondrial Disorders Congenital syphilis*
Alexander disease Subacute sclerosing panencephalitis
Mitochondrial myopathy, encephalopathy, lactic acidosis, stroke
Progressive infantile poliodystrophy (Alpers disease) Other Disorders of Gray Matter
Subacute necrotizing encephalomyelopathy (Leigh disease) Ceroid lipofuscinosis
Trichopoliodystrophy (Menkes disease) Juvenile
Late infantile (Bielschowsky-Jansky disease)
Neurocutaneous Syndromes Huntington disease
Chediak-Higashi syndrome Mitochondrial disorders
Neurofibromatosis* Late-onset poliodystrophy
Tuberous sclerosis* Myoclonic epilepsy and ragged-red fibers
Progressive neuronal degeneration with liver disease
Other Disorders of Gray Matter Xeroderma pigmentosum
Infantile ceroid lipofuscinosis (Santavuori-Haltia disease)
Infantile neuroaxonal dystrophy Other Disorders of White Matter
Lesch-Nyhan disease* Adrenoleukodystrophy
Progressive neuronal degeneration with liver disease Alexander disease
Rett syndrome Cerebrotendinous xanthomatosis
Progressive cavitating leukoencephalopathy
Progressive Hydrocephalus*
Other Diseases
Other Disorders of White Matter Wilson disease
Aspartoacylase deficiency (Canavan disease) Friedreich ataxia
Galactosemia: Transferase deficiency* Pantothenate kinase neurodegeneration
Neonatal adrenoleukodystrophy Neurodegeneration with brain iron accumulation
Pelizaeus-Merzbacher disease
Progressive cavitating leukoencephalopathy
*Denotes the most common conditions and those with disease-modifying treatment.
From Pina-Garza JE: Fenichel’s clinical pediatric neurology, ed 7, Philadelphia, 2013, Elsevier, Boxes 5-2 and 5-5, pp 114, 121.

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of the Child Neurology Society, Neurology 77(17):1629–1635, 2011. news/2010/15/childrens-right-to-family-life/definition-intellectual-disability.
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ics: Comprehensive evaluation of the child with intellectual disability or global of Diseases and Related Health Problems, 10th revision, Geneva, 2011, WHO.
developmental delays, Pediatrics 134:e903–e918, 2014.
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and not be better explained by the diagnoses of intellectual disability

Chapter 54 (ID) or global developmental delay (GDD; Chapter 53). Table 54.2
provides associated features not included in DSM-5 criteria.
Autism Spectrum Disorder Previously, ASD was grouped under the heading of pervasive devel-
opmental disorders (PDDs) and included a variety of subdiagnoses,
including autistic disorder, PDD not otherwise specified (PDD-NOS),
Carolyn F. Bridgemohan and Asperger disorder. Research did not support these as distinct
conditions; in the current diagnostic framework, any individual previously
diagnosed with 1 of these conditions should be diagnosed with ASD.
DEFINITION Symptoms can present early in infancy, with reduced response to
Autism spectrum disorder (ASD) is a neurobiologic disorder with name and unusual use of objects being strong predictors for risk of
onset in early childhood. The key features are impairment in social ASD. However, symptoms before age 12 mo are not as reliably predictive
communication and social interaction accompanied by restricted and of later diagnosis. Individuals with milder severity may not present
repetitive behaviors. The presentation of ASD can vary significantly until preschool or school age, when the social demands for peer interac-
from one individual to another, as well as over the course of development tion and group participation are higher.
for a particular child. There is currently no diagnostic biomarker for
ASD. Accurate diagnosis therefore requires careful review of the history Social Communication and Social Interaction
and direct observation of the child’s behavior. Individuals with ASD have difficulty understanding and engaging in
social relationships. The problems are pervasive and impact 3 major
DIAGNOSTIC CRITERIA AND SYMPTOMS areas: reciprocal social interactions (social-emotional reciprocity),
The diagnostic criteria in the Diagnostic and Statistical Manual, Fifth nonverbal communication, and understanding of social relationships.
Edition (DSM-5) focus on symptoms in two primary domains (Table The presentation can vary with severity and developmental functioning.
54.1). To meet criteria for ASD, the symptoms need to have been present Diagnosis of ASD requires the presence of symptoms from all 3 categories
since the early developmental period, significantly impact functioning, (Table 54.3).

Keywords
autism
autism spectrum disorder
ASD
autistic disorder
pervasive developmental disorder
Asperger disorder

Social-Emotional Reciprocity
Table 54.1 DSM-5 Diagnostic Criteria for Autism Reduced social interactions in ASD may range from active avoidance
Spectrum Disorder or reduced social response to having an interest in, but lacking ability
A. Persistent deficits in social communication and social interaction to initiate or sustain, an interaction with peers or adults. A young child
across multiple contexts, as manifested by the following, with ASD may not respond when his name is called, may exhibit limited
currently or by history: showing and sharing behaviors, and may prefer solitary play. In addition,
1. Deficits in social-emotional reciprocity. the child may avoid attempts by others to play and may not participate
2. Deficits in nonverbal communicative behaviors used for social in activities that require taking turns, such as peek-a-boo and ball play.
interaction. An older child with ASD may have an interest in peers but may not
3. Deficits in developing, maintaining, and understanding know how to initiate or join in play. The child may have trouble with
relationships. the rules of conversation and may either talk at length about an area
B. Restricted, repetitive patterns of behavior, interests, or activities,
as manifested by at least 2 of the following, currently or by history:
of interest or abruptly exit the interaction. Younger children often have
1. Stereotyped or repetitive motor movements, use of objects,
or speech.
2. Insistence on sameness, inflexible adherence to routines, or Table 54.2 Associated Features of Autism Not in
ritualized patterns of verbal or nonverbal behavior. DSM-5 Criteria
3. Highly restricted, fixated interests that are abnormal in
intensity or focus. Atypical language development and abilities
4. Hyper- or hyporeactivity to sensory input or unusual interest in Age <6 yr: frequently disordered and delayed in comprehension;
sensory aspects of the environment. two-thirds have difficulty with expressive phonology and
C. Symptoms must be present in the early developmental period grammar
(may not become fully manifest until social demands exceed Age ≥6 yr: disordered pragmatics, semantics, and morphology,
limited capacities, or may be masked by learned strategies in with relatively intact articulation and syntax (i.e., early
later life). difficulties are resolved)
D. Symptoms cause clinically significant impairment in social, Motor abnormalities: motor delay; hypotonia; catatonia; deficits in
occupational, or other important areas of current functioning. coordination, movement preparation and planning, praxis, gait,
E. These disturbances are not better explained by intellectual and balance
disability (intellectual developmental disorder) or global
developmental delay. For version with full references, see Diagnostic and Statistical Manual of Mental
Disorders, Fifth Edition, Washington DC, 2013, American Psychiatric Association.
From the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Adapted from Lai MC, Lombardo MV, Baron-Cohen S: Autism, Lancet 383:
(Copyright 2013). American Psychiatric Association, pp 50–51. 896–910, 2014.

Table 54.3 Signs and Symptoms of Possible Autism in Preschool Children (or Equivalent Mental Age)
SOCIAL INTERACTION AND RECIPROCAL Eye Contact, Pointing, and Other Gestures
COMMUNICATION BEHAVIORS Reduced or absent use of gestures and facial expressions to
Spoken Language communicate (although may place an adult’s hand on objects).
Language delay (in babbling or using words; e.g., using <10 words Reduced and poorly integrated gestures, facial expressions, body
by age 2 yr). orientation, eye contact (looking at people’s eyes when speaking),
Regression in, or loss of, use of speech. and speech used in social communication.
Spoken language (if present) may include unusual features, such as Reduced or absent social use of eye contact (assuming adequate
vocalizations that are not speech-like; odd or flat intonation; vision).
frequent repetition of set words and phrases (echolalia); reference Reduced or absent “joint attention” (when 1 person alerts another
to self by name or “you” or “she” or “he” beyond age 3 yr. to something by means of gazing, finger pointing, or other verbal
Reduced and/or infrequent use of language for communication; e.g., or nonverbal indication for the purpose of sharing interest). This
use of single words, although able to speak in sentences. would be evident in the child from lack of:
Gaze switching
Responding to Others Following a point (looking where the other person points to—may
Absent or delayed response to name being called, despite normal look at hand)
hearing. Using pointing at or showing objects to share interest
Reduced or absent responsive social smiling.
Reduced or absent responsiveness to other people’s facial Ideas and Imagination
expressions or feelings. Reduced or absent imagination and variety of pretend play.
Unusually negative response to the requests of others (“demand
avoidance” behavior). Unusual or Restricted Interests and/or Rigid and
Rejection of cuddles initiated by parent or caregiver, although the Repetitive Behaviors
child may initiate cuddles. Repetitive “stereotypic” movements such as hand flapping, body
rocking while standing, spinning, and finger flicking.
Interacting With Others Repetitive or stereotyped play; e.g., opening and closing doors.
Reduced or absent awareness of personal space, or unusually Over focused or unusual interests.
intolerant of people entering their personal space. Excessive insistence on following own agenda.
Reduced or absent social interest in others, including children of Extremes of emotional reactivity to change or new situations;
own age—may reject others; if interested in others, child may insistence on things being “the same.”
approach others inappropriately, seeming to be aggressive or Overreaction or underreaction to sensory stimuli, such as textures,
disruptive. sounds, or smells.
Reduced or absent imitation of others’ actions. Excessive reaction to the taste, smell, texture, or appearance of
Reduced or absent initiation of social play with others; plays alone. food, or having extreme food fads.
Reduced or absent enjoyment of situations that most children like;
e.g., birthday parties.
Reduced or absent sharing of enjoyment.
Adapted from Baird G, Douglas HR, Murphy MS: Recognizing and diagnosing autism in children and young people: summary of NICE guidance. BMJ 343:d6360,
2011, Box 1, p 901.

limited capacity for imaginative or pretend play skills. Older children with bathing or with cutting nails and hair. Conversely, some affected
may engage in play but lack flexibility and may be highly directive to children seem to crave sensory input. They may engage in repetitive
peers. Some children with ASD interact well with adults but struggle jumping or hugging and may smell or lick objects or people. Young
to interact with same-age peers. children may inappropriately touch the face or hair of others.
Diagnosing ASD with DSM-5 criteria can be challenging in very
Nonverbal Communicative Behavior young children because of reduced expression of repetitive behaviors,
Difficulties with nonverbal communication may manifest as reduced particularly stereotyped behavior and intense interests. Studies monitoring
use of eye contact and gestures such as pointing. Children may also development in high-risk young children who have an older sibling with
show reduced awareness or response to the eye gaze or pointing of ASD indicate these additional symptoms may emerge over time. This
others. They may use eye contact only when communicating a highly creates a dilemma for specialty clinicians evaluating very young children
preferred request or may have difficulty coordinating the use of nonverbal for ASD, because they may not be able to endorse sufficient symptoms
with verbal communication. Children with ASD may have limited range to make an early diagnosis and access specialized intervention services.
of facial expression or expressed emotion.
Severity Levels Defined in DSM-5
Developing, Maintaining, and Severity level in ASD is based on the level of support the individual
Understanding Relationships requires in each of the major domains impacted—social communication
Children with ASD have limited insight regarding social relationships. and restricted and repetitive behavior. Levels range from –“needing
They have difficulty understanding the difference between a true friend support” (level 1), to –“needing substantial support” (level 2), to
and a casual acquaintance. They have trouble picking up on the nuances –“needing very substantial support” (level 3) (Table 54.4).
of social interactions and understanding social expectations for polite
behavior. They may have reduced understanding of personal boundaries Specifiers Defined in DSM-5
and may stand too close to others. In addition, they can have trouble Formal diagnosis of ASD also includes documenting associated conditions
understanding and inferring others’ emotions and are less likely to including whether the individual has cognitive and/or language impair-
share emotion or enjoyment with others. Adolescents and young adults ment, any related medical, genetic or environmental factors and any
have difficulty engaging in group interactions and navigating romantic other neurodevelopmental or behavioral health conditions, including
relationships. catatonia (Table 54.5). This process helps to better characterize the
presentation in an individual child and ensures that the diagnosis has
Restrictive and Repetitive Behavior been made by considering the symptoms in the context of the child’s
Diagnosis of ASD requires the presence of 2 of the 4 symptoms of current cognitive and language abilities.
restrictive and repetitive patterns of behavior discussed next.
EPIDEMIOLOGY
Stereotyped Motor Movements or Speech The prevalence of ASD is estimated at 1 in 59 persons by the U.S.
Stereotyped (or stereotypic) movements and repetitive behaviors may Centers for Disease Control and Prevention (CDC). The prevalence
include hand flapping, finger movements, body rocking and lunging, increased significantly over the past 25 years, primarily because of
jumping, running and spinning, and repetitive speech such as echoing improved diagnosis and case finding as well as inclusion of less severe
words immediately after they are said. Repetitive patterns of play may presentations within the autism spectrum. There is a 4:1 male predomi-
be present, such as lining up objects, repetitively turning light switches nance. The prevalence is increased in siblings (up to 10% recurrence
on and off or opening and closing doors, spinning objects, or arranging rate) and particularly in identical twins. There are no racial or ethnic
toys in a specific manner. These repetitive patterns may not be seen in differences in prevalence. Individuals from racial minorities and lower
very young toddlers but may develop as they get older. Stereotyped socioeconomic status are at risk for later diagnosis.
movements can change over time and in older children are seen more
often in individuals with lower cognitive functioning. ETIOLOGY
The etiology of ASD is thought to result from disrupted neural con-
Insistence on Sameness nectivity and is primarily impacted by genetic variations affecting early
Children with ASD have difficulty tolerating transitions or change. They brain development. Animal models and studies of individuals with ASD
may insist on certain routines or schedules and can become very dis- indicate changes in brain volume and neural cell density in the limbic
tressed with unexpected events or new situations. They may repeat system, cerebellum, and frontotemporal regions. One study documented
scripts from shows or movies or watch the same portion of a video changes in early brain development, characterized as “hyperexpansion
repeatedly. Intolerance for change causes significant impairment and of cortical surface area,” at age 6-12 mo on brain MRI, which correlated
impact on child and family function. with later development of impaired social skills. Functional studies
show abnormalities of processing information, particularly related to
Restricted Interests foundational social skills such as facial recognition. The disruptions in
This symptom may manifest as intense interests that seem out of the early brain development likely are responsive the treatment. Early
norm in comparison to same-age peers. Younger children may play developmental therapies in young children with ASD have demonstrated
with a limited range of toys or may insist on retaining a small object the capacity for normalization of electrophysiologic response to visual
in each hand. Older children may have a strong preference for a particular stimuli, including faces.
story or movie. The area of interest may be shared by peers (e.g., Disney Numerous genes involved in brain development and synaptic function
movies, Legos, Thomas the Train) but unusual in its intensity. Other have been associated with ASD. Mutations that include large genetic
affected children may have interests that are both intense and odd, such deletions or duplications and small sequencing changes have been
as an interest in brands of vehicles, license plate numbers, or fans and implicated; these can be inherited or occur de novo. Heterozygous
heating systems. These interests interfere with social interactions; a mutations in genes, such as present in deletion or duplication of 15q11.2
child may only want to talk about her area of interest or may insist that or 16p11.2, may have variable expression within a family. Rare recessive
peers act out a particular story in a rigid and inflexible manner. mutations have been implicated in some populations with high levels
of consanguinity. Patients with a number of genetic syndromes (e.g.,
Hypo- or Hyperreactivity to Sensory Input fragile X, Down, Smith-Lemli-Opitz, Rett, Angelman, Timothy, Joubert)
Children with ASD may be overly sensitive to sensory input, such as as well as disorders of metabolism and mitochondrial function have
noise, smells, or texture. Children may scream when they hear a siren higher rates of ASD than the general population (Table 54.5).
or vacuum and may gag and choke with certain foods or odors. They There is also evidence for environmental contributions to ASD. Older
may refuse to wear certain clothing or may become very distressed maternal or paternal age may increase the risk of ASD. In addition, factors

Table 54.4 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 Inflexibility of behavior, extreme difficulty coping
“Requiring very cause severe impairments in functioning, very limited initiation with change, or other restricted/repetitive
substantial support” of social interactions, and minimal response to social overtures behaviors markedly interfere with functioning
from others. For example, a person with few words of intelligible in all spheres. Great distress/difficulty changing
speech who rarely initiates interaction and, when he or she does, focus or action.
makes unusual approaches to meet needs only and responds to
only very direct social approaches
Level 2 Marked deficits in verbal and nonverbal social communication Inflexibility of behavior, difficulty coping with
“Requiring substantial skills; social impairments apparent even with supports in place; change, or other restricted/repetitive behaviors
support” limited initiation of social interactions; and reduced or abnormal appear frequently enough to be obvious to the
responses to social overtures from others. For example, a person casual observer and interfere with functioning
who speaks simple sentences, whose interaction is limited to in a variety of contexts. Distress and/or
narrow special interests, and who has markedly odd nonverbal difficulty changing focus or action.
communication
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 more
and clear examples of atypical or unsuccessful responses to contexts. Difficulty switching between activities.
social overtures of others. May appear to have decreased Problems of organization and planning hamper
interest in social interactions. For example, a person who is able independence.
to speak in full 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, Fifth Edition, (Copyright 2013). American Psychiatric Association, p 52.

Table 54.5 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 In DSM-IV, language delay was a defining feature of autism (autistic disorder), but is no
longer included in DSM-5.
An autism-specific language profile (separate from language disorders) exists, but with
substantial interindividual variability.
Attention-deficit/ 28–44% In DSM-IV, not diagnosed when occurring in individuals with autism, but no longer so in
hyperactivity DSM-5.
disorder
Tic disorders 14–38% ~6⋅5% have Tourette syndrome.
Motor abnormality ≤79% See Table 54.2.
GENERAL MEDICAL DISORDERS
Epilepsy 8–35% Increased frequency in individuals with intellectual disability or genetic syndromes.
Two peaks of onset: early childhood and adolescence.
Increases risk of poor outcome.
Gastrointestinal 9–70% Common symptoms include chronic constipation, abdominal pain, chronic diarrhea, and
problems 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.
PSYCHIATRIC DISORDERS
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).
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).
Continued

Table 54.5 Common Co-occurring Conditions in Autism Spectrum Disorder (ASD)—cont’d

INDIVIDUALS WITH
COMORBIDITY AUTISM AFFECTED COMMENTS
Obsessive-compulsive 7–24% Shares the repetitive behavior domain with autism that could cut across nosologic categories.
disorder (OCD) 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 ≤16% Potentially because individual is using substances as self-medication to relieve anxiety.
disorders
Oppositional defiant 16–28% Oppositional behaviors could be a manifestation of anxiety, resistance to change, stubborn
disorder 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 4–5% Could be a misdiagnosis of autism, particularly in females, because both involve rigid
behavior, inflexible cognition, self-focus, and focus on details.
PERSONALITY DISORDERS†
Paranoid personality 0–19% Could be secondary to difficulty understanding others’ intentions and negative interpersonal
disorder experiences.
Schizoid personality 21–26% Partly overlapping diagnostic criteria.
disorder
Schizotypal 2–13% Some overlapping criteria, especially those shared with schizoid personality disorder.
personality disorder
Borderline personality 0–9% Could have similarity in behaviors (e.g., difficulties in interpersonal relationships,
disorder 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 13–25% Could be secondary to repeated failure in social experiences.
disorder
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 ≤50% Associated with impulsivity and hyperactivity, negative affect, and lower levels of ability and
behaviors 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 11–14% Risks increase with concurrent depression and behavioral problems, and after being teased
attempt 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, 4th edition; DSM-5, Diagnostic and Statistical Manual of Mental Disorders, Fifth edition.
Adapted from Lai MC, Lombardo MV, Baron-Cohen S: Autism, Lancet 383:896–910, 2014.

influencing the intrauterine environment, such as maternal obesity or have impairments in social communication and play; their social and
overweight, short interval from prior pregnancy, premature birth, and play skills, however, are typically on par with their language level. In
certain prenatal infections (e.g., rubella, cytomegalovirus) are associated addition, they do not have associated restricted and repetitive behavior
with ASD. An epigenetic model is considered one explanation for the or atypical use of language, such as scripting. The diagnosis of social
etiology; individuals with genetic vulnerability may be more sensitive communication disorder is also distinguished from ASD by the lack of
to environmental factors influencing early brain development. restrictive and repetitive behaviors. Children with intellectual disability
Despite frequent concerns from families that vaccines or the preserva- (ID) or global developmental delay (GDD) may have delays in social
tives in vaccines lead to ASD, there is no evidence to support this claim. and communication skills as well as stereotyped behavior. However,
Multiple research studies and meta-analyses have failed to show an social and communication skills are typically commensurate with their
association of vaccines with ASD. cognitive and adaptive functioning. Children with hearing loss may
present with some “red flags” for ASD, such as poor response to name.
DIFFERENTIAL DIAGNOSIS However, they typically develop nonverbal communication and play skills
The differential diagnosis of ASD is complex because many conditions as expected and do not have stereotyped or restricted behavior patterns.
in the differential can also occur with ASD. The most important condi- In older children, disorders of attention, learning, and mood regulation
tions to consider in young children are language disorder (see Chapter must be considered in the differential diagnosis of ASD. Children with
52), intellectual disability or global developmental delay (Chapter 53), attention-deficit/hyperactivity disorder (ADHD) may present with
and hearing loss (Chapter 655). Children with language disorder may reduced eye contact and response to name caused by poor attention

rather than lack of social awareness. Children with ADHD, however, Screening can be done by parent checklist or direct assessment. The
do not have associated impairments in shared enjoyment and social most frequently used screening tool is the Modified Checklist for Autism,
reciprocity or repetitive behaviors. Children with social anxiety or other Revised/Follow-Up Interview (MCHAT-R/FU), a 20-item parent report
anxiety disorders may present with some symptoms suggestive of ASD. measure, with additional parent interview completed for intermediate
Shy children may have reduced eye contact and social initiation. Anxious scores. The MCHAT-R/FU can be used from age 16-30 mo.
children can be resistant to change and prefer familiar routines. Children
with anxiety, however, typically will have preserved social interest and ASSESSMENT
insight and will not exhibit high levels of stereotyped behaviors. Reactive Diagnostic assessment should include medical evaluation and assessment
attachment disorder can be difficult to distinguish from ASD, particularly of the child’s cognitive, language, and adaptive function. Assessment
in younger children with history of trauma. However, social behaviors may occur in a single multidisciplinary visit or through a series of visits
in these children generally improve with positive caretaking. with different developmental specialists. Multidisciplinary evaluation
The differentiation of ASD from obsessive-compulsive disorder with clinicians who have expertise with ASD is optimal for diagnostic
(OCD), tics, and stereotyped behaviors can sometimes be challenging. accuracy and treatment planning. Developmental-behavioral pediatri-
In general, stereotyped behaviors may be calming or preferred, whereas cians, neurodevelopmental disability specialists, neurologists, psychia-
tics and compulsive routines are distressing to the individual. Children trists, and psychologists are qualified to make a formal diagnosis of
with OCD have intense interests as well as repetitive behaviors and ASD. Other specialists, including speech-language pathologists and
rituals but do not have impairment in social communication or interac- occupational therapists, should also be included depending on the child’s
tion. Children with stereotypic movement disorder will not have age and the presenting concerns.
impaired social skills or other types of restricted and repetitive behaviors. Assessment of ASD includes direct observation of the child to evaluate
Children with Landau Kleffner syndrome (LKS) present with loss of social skills and behavior. Informal observation can be supplemented
skills in language comprehension (auditory verbal agnosia) and verbal with structured diagnostic tools such as the Autism Diagnostic Observation
expression (aphasia) associated with onset of epileptic seizures during Schedule, Second Edition (ADOS-2) and Autism Diagnostic Observation
sleep (see Chapter 52). In contrast to ASD, children with LKS present Schedule, Toddler module (ADOS-T). These structured play-based
with typical early development followed by loss of language function assessments provide social prompts and opportunities to evaluate the
at age 3-6 yr. frequency and quality of a child’s social responsiveness to, initiation,
and maintenance of social interactions; the capacity for joint attention
COMORBID CONDITIONS and shared enjoyment; the child’s behavioral flexibility; and presence
Up to 50% of individuals with ASD have intellectual disability, ranging of repetitive patterns of behavior. The ADOS-2 and ADOS-T are not
in severity from mild to severe (Table 54.5). Intellectual disability is required for accurate diagnosis and do not stand alone, but rather can
associated with higher rates of both identified genetic conditions and be used to augment a careful history and observation. The Childhood
epilepsy. Children with ASD often have associated language impairments, Autism Rating Scale, Second Edition (CARS-2) is a 15-item direct clinical
including delays in expressive, receptive, and pragmatic (social) language observation instrument that can assist clinicians in the diagnosis of
skills. Language function can range widely from nonverbal status to ASD. The Autism Diagnostic Interview-Revised (ADI-R) is a lengthy
age appropriate. Gastrointestinal (GI) problems such as constipation, clinical interview tool that is used primarily in research settings since
esophagitis, and gastroesophageal reflux disease (GERD) are reported it takes several hours to administer. Other tools include standardized
in up to 70% of children with ASD. Epilepsy occurs in up to 35% of rating scales that parents and teachers can complete to report on the
children with ASD and presents in 2 peaks, in early childhood and in child’s social skills and behaviors.
adolescence. Epilepsy or electrical seizures without motor manifestations Medical evaluation should include a thorough history and detailed
may be a cause of regression in young children with ASD. physical examination of the child, including direct behavioral observations
Children with ASD are at higher risk for disorders of attention, of communication and play. In addition, the examination should include
including reduced attention for nonpreferred activities and excessive measurement of head circumference, careful evaluation for dysmorphic
attention for preferred activities. A subset of children will also meet features, and screening for tuberous sclerosis with Wood lamp exam.
full criteria for a diagnosis of ADHD. There are higher rates of anxiety Children with ASD should have genetic testing (described later), an
(~40%) and mood disorders in ASD, particularly during adolescence. audiology examination to rule out hearing loss, and in children with
Children with ASD are also at increased risk for being bullied and may pica, a lead test (Table 54.6).
present with secondary irritability, anxiety, or depression. There are currently several specialty-specific clinical guidelines for
Sleep problems, including delayed sleep onset, frequent night waking, genetic evaluation of children diagnosed with ASD. Genetic testing is
and abnormal sleep architecture, are reported in 50–80% of children shown to impact clinical decision-making, but no studies have evalu-
with ASD. There is some evidence for baseline abnormalities in melatonin ated the impact of genetic testing on the outcome for the child. The
secretion. The use of screen-based activities such as television, computers, American College of Medical Genetics recommends a tiered approach
or tablets before bedtime can inhibit melatonin secretion. Children to genetic testing.
with ASD also have higher rates of feeding and toileting problems
resulting from resistance to change, sensory sensitivity, and repetitive First Tier
behavior patterns. Many children with ASD have restrictive feeding All children with ASD should have a chromosomal microarray (CMA).
patterns and food selectivity. They also have higher rates of overweight, CMA will be positive in 10–15% of individuals with ASD. The rate is
possibly because of diets higher in carbohydrates, reduced physical increased to almost 30% in individuals who have complex presentations,
activity, use of food rewards to regulate behavior, and side effects from such as associated microcephaly, dysmorphic features, congenital
medications used for managing mood and behavior. anomalies, or seizures. CMA technology will identify copy number
Disruptive behaviors such as self-injury and aggression are common variants but not DNA sequencing errors, balanced translocations, or
in ASD patients, but most common in individuals with lower cognitive abnormalities in trinucleotide repeat length. Fragile X DNA testing is
function and limited language. Sleep deprivation, nutritional deficits, therefore recommended for all boys with ASD. Fragile X testing should
pain, epilepsy, and medication side effects may contribute to disruptive also be considered in girls with physical features suggestive of fragile
behaviors. X syndrome or with a family history of fragile X, X-linked pattern of
intellectual disability, tremor/ataxia, or premature ovarian failure.
SCREENING
The American Academy of Pediatrics recommends screening for ASD Second Tier
for all children at age 18 mo and 24 mo (see Chapter 28). Screening Girls with ASD should have testing for mutation in the MeCP2 gene if
should also occur when there is increased risk for ASD, such as a child CMA is normal. Boys who have hypotonia, drooling, and frequent
with an older sibling who has ASD, or concern for possible ASD. respiratory infections should have MeCP2 deletion/duplication testing.

Table 54.6 Medical and Genetic Evaluation of Children Table 54.7 Autism Resources for Families
With Autism Spectrum Disorder
Autism Speaks First 100 Days kit
Physical Examination https://www.autismspeaks.org/family-services/tool-kits/100-day-kit
Dysmorphic physical features Autism Speaks Toolkits–dental, transition, guardianship
Muscle tone and reflexes https://www.autismspeaks.org/family-services/tool-kits
Head circumference AACAP Autism Spectrum Disorder Parent’s Medication Guide
Wood lamp examination for tuberous sclerosis https://www.aacap.org/App_Themes/AACAP/Docs/resource
_centers/autism/Autism_Spectrum_Disorder_Parents
Diagnostic Testing _Medication_Guide.pdf
Chromosomal microarray (CMA) in all individuals Sexuality information for individuals with developmental disability
Fragile X DNA test in males http://vkc.mc.vanderbilt.edu/healthybodies/
Audiology evaluation
Lead test in children with pica

Additional Targeted Genetic Testing

Fragile X DNA test in females with symptoms suggestive of fragile for all children. In addition, research treatments are often conducted
X, family history of X-linked intellectual disability, tremor, ataxia, with a high level of intensity and fidelity that are difficult to scale up
or premature ovarian failure or reproduce in community settings. Higher cognitive, play, and joint
MeCP2 sequencing in females attention skills and lower symptom severity at baseline are predictors
PTEN mutation testing if head circumference >2.5 SD above the for better outcomes in core symptoms, intellectual function, and language
mean function.
MeCP2 deletion/duplication testing in males with significant
developmental regression, drooling, respiratory infections, and
Behavioral approaches based on the principles of applied behavioral
hypotonia analysis (ABA) involve direct incremental teaching of skills within a
Karyotype if unable to obtain CMA or if balanced translocation traditional behavioral framework using reinforcement of desired behavior,
suspected careful data collection, and analysis and adjustment of the treatment
program based on review of data. Comprehensive models integrating
Additional Targeted Diagnostic Testing behavioral and developmental approaches that build on key foundational
EEG in children with seizures, staring spells, or developmental skills, such as joint attention, shared enjoyment, and reciprocal com-
regression munication, show strong evidence of efficacy for young children,
Brain MRI in children with microcephaly, focal neurologic findings, particularly toddlers, with ASD. Examples include the Early Start Denver
or developmental regression
Metabolic testing in children with developmental regression,
Model (ESDM), Joint Attention Symbolic Play Engagement and Regulation
hypotonia, seizures, food intolerance, hearing loss, ataxia, or (JASPER), and Social Communication/Emotional Regulation/Transactional
course facial features Support (SCERTS). Parent training models also show promise for younger
children.
Data from Schaefer GB, Mendelsohn NJ: Clinical genetics evaluation in Educational approaches such as the Treatment and Education of Autistic
identifying the etiology of autism spectrum disorders: 2013 guideline revisions,
Genet Med 15(5):399–407, 2013. and Communication Handicapped Children (TEACCH) incorporate
structured teaching, visual supports, and adjustment of the environment
to the individual needs of students with ASD, such as difficulty with
communication, understanding time, and need for routine. These
All individuals with ASD and a head circumference greater than 2.5 approaches have demonstrated efficacy for improved cognitive and
standard deviations (SD) above the mean should have testing for mutation adaptive skills. For older children with more severe symptoms, approaches
in the PTEN gene because there is a risk for hamartoma tumor disorders that use behavioral principles in addition to adjusting the environment
(Cowden, Proteus-like, Bannayan-Riley-Ruvakaba syndromes) in these may be most effective.
individuals. Cytogenetic testing (karyotype) has a lower yield than CMA. Speech and language therapy can help build vocabulary, comprehen-
Karyotype is recommended if microarray is not available and in children sion, and pragmatic skills. Children with ASD benefit from visual supports
with suspected balanced translocation, such as history of multiple prior for comprehension, understanding expectations, and communicating their
miscarriages. needs. Augmentative communication approaches using photographs or
Further medical diagnostic testing is indicated by the child’s history picture icons can improve comprehension and ability to communicate.
and presentation. Brain imaging is indicated in cases of microcephaly, There are a range of options with varying levels of complexity, flexibility,
significant developmental regression, or focal findings on neurologic and technology. Using augmentative communication does not inhibit
examination. Because of the high rate (up to 25%) of macrocephaly in acquisition of verbal language. On the contrary, supporting a child’s
ASD, imaging is not indicated for macrocephaly alone. MRI is not language development with augmentative supports can facilitate the
recommended for minor language regression (loss of a few words) development of spoken language, even in older children.
during the 2nd year of life that is often described in toddlers with ASD. Additional strategies to build social skills are used for school age
Children with concern for seizures, spells, or developmental regression children and adolescents and may be administered in the school or
should have an electroencephalogram (EEG). Metabolic screening is community setting by a variety of specialists, including speech therapists,
indicated for children with signs of a metabolic or mitochondrial disorder, psychologists, and counselors. Social skills programs that include
such as developmental regression, weakness, fatigue, lethargy, cyclic training peer mentors have higher rates of efficacy. Occupational and
vomiting, or seizures (see Chapters 53 and 102). physical therapy may be indicated for individuals with motor delay and
difficulty acquiring adaptive skills such as dressing and toileting.
TREATMENT AND MANAGEMENT For some high school students with ASD, training in life skills and
Educational vocational skills is critical for maximizing independence in adulthood.
The primary treatment for ASD is done outside the medical setting and Training may focus on basic self-care (e.g., dressing, hygiene), functional
includes developmental and educational programming. Numerous academics (e.g., money management, banking skills), learning to fill
resources have been developed that can help families in the complex out a job application, and understanding how to behave with strangers
process of treatment planning (Table 54.7). Intensive behavioral therapies and in work settings. Social skills and job coaching may be needed
have the strongest evidence to date. Earlier age at initiation of treatment even for adolescents with strong cognitive and academic function,
and higher intensity of treatment are associated with better outcomes. because they may struggle with social perception and may be vulnerable
Programming must be individualized, and no approach is successful to exploitation by others.

Co-occurring Conditions be used after appropriate behavioral and communication supports have
Additional medical or behavioral health treatment is often required for been implemented.
management of co-occurring conditions in ASD. Seizures occur in up
to 35% of children with ASD and should be managed with appropriate Pharmacology
antiepileptic therapy (see Chapter 611). GI problems (e.g., constipation, There are currently no medications that treat the core symptoms of
esophagitis, GERD) may present with nonspecific irritability, sleep ASD. Medications can be used to target specific co-occurring conditions
disturbance, self-injury, aggression, and signs of pain or discomfort, or symptoms (Table 54.8; see also Table 54.5). Families should be
such as crying, and can be managed with the same approaches used in cautioned, however, that the effect size may be lower and the rate of
typically developing children. medication side effects higher in children with ASD.
Management of co-occurring attention and mood disorders is similar Preliminary data suggest that intranasal therapy with neuropeptide
to that for typically developing children. Strategies to increase structure oxytocin may improve social functioning in children with ASD, par-
and organization in the environment and use of visual supports (e.g., ticularly those with low pretreatment oxytocin levels.
schedules) can improve attention and reduce anxiety. Some children There is evidence to support use of stimulant medication, atomoxetine
with ASD benefit from modified cognitive-behavioral therapy to address and α-agonists for ADHD in ASD. Selective serotonin reuptake inhibitors
anxiety and OCD. (SSRI) can be used for anxiety and OCD and in adolescents may also
Strategies to promote sleep hygiene and use of behavioral approaches, be useful for depression. Benzodiazepines may be useful for situational
such as structured bedtime routines, can address delayed sleep onset. anxiety, for example, triggered by dental and medical procedures or air
Other medical problems, such as epilepsy or GERD, can also contribute travel. Medications used to treat ADHD and anxiety may result in
to poor sleep and should be treated directly. In cases refractory to activation or irritability in ASD and require careful monitoring.
behavioral approaches, medications may be used. (For further discussion Melatonin can be used to improve sleep onset but will not address
of management of sleep problems, see Chapter 31.) night waking. Clonidine or trazodone may be used for sleep onset and
Structured behavioral approaches for delayed toilet training in concert maintenance. No medications are specifically labeled for treatment of
with treatment to prevent constipation are often needed for children insomnia in ASD.
with ASD. For children with highly restrictive diets, nutrition counseling The α-adrenergic agonists may be helpful in children who present
and behaviorally based feeding therapy may be needed to address poor with significant behavioral dysregulation. There are two atypical anti-
caloric intake or lack of nutritional quality. Because of limited diets, psychotic medications that have U.S. Food and Drug Administration
children with ASD may be at risk for low levels of calcium, vitamin D, (FDA) recommendation for irritability and aggression in children with
and iron. Children who are overweight may have poor nutrition as a ASD. Both risperidone and aripiprazole have several studies document-
result of restrictive diets. ing efficacy for reducing irritability, aggression, and self-injury. Secondary
Irritability is a nonspecific symptom and can be a reflection of improvements in attention and repetitive behavior were also noted.
pain, anxiety, distress, or lack of sleep. Children with ASD are prone to Side effects include weight gain and metabolic syndrome as well as
irritability because of their difficulty tolerating change and their limited tardive dyskinesia and extrapyramidal movements. Careful laboratory
communication skills. Management of irritability includes evaluating monitoring is recommended. Mood-stabilizing antiepileptic medications
carefully for medical problems that may be causing pain, as well as have also been used to treat irritability.
for any factors in the child’s home or school environment that may
be causing distress. Possible causes of distress range from common Complementary and Alternative Medicine
experiences such as changes in the routine to undisclosed abuse or Families of children with ASD often use complementary and alternative
bullying. Treatment should be targeted first at any underlying cause. medicine (CAM) approaches. These treatments can include supplements,
Medications are often used to treat irritability in ASD but should only dietary changes, and body or physical treatments. There is a limited

Table 54.8 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
attention withdrawal, stomach ache,
reduced appetite, insomnia,
increased stereotypy
α2-Agonists Decreased hyperactivity, Drowsiness, irritability, enuresis, Height, weight, BP, HR
impulsivity, improved decreased appetite, dry
attention mouth, hypotension
Selective Decreased hyperactivity, Irritability, decreased appetite, Height, weight, BP, HR
norepinephrine impulsivity, improved fatigue, stomach ache, nausea,
reuptake inhibitor attention vomiting, racing heart rate
Anxiety Selective serotonin Decreased anxiety Activation, hyperactivity, Weight, BP, HR
reuptake inhibitors inattention, sedation, change
in appetite, insomnia, stomach
ache, 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 medications names are provided in parentheses when there is a 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.

evidence to inform families, who often learn about these treatments guardianship, finances, housing, and medical care. High school educa-
from friends and family members, alternative medicine providers, or tional programming should include individualized and meaningful
the internet. For most therapies, evidence is insufficient to show benefit. vocational training, as well as instruction regarding sexuality, relation-
There is strong evidence that secretin and facilitated communication ships, safety and abuse prevention, finances, travel training, and general
are not effective. Some therapies, such as hyperbaric oxygen, chelation, self-advocacy. Individuals with ASD who are higher functioning will
and high-dose vitamins, are potentially harmful. For children with need help accessing supports for college or postsecondary skills training
restrictive diets, taking a daily multivitamin and 400 IU vitamin D may and may benefit from referral to their state vocational rehabilitative
be indicated, although there is no evidence to support megadoses of services as well as personal life coaches or counselors. Families who
vitamins. Similarly, for children with evidence of gluten sensitivity, a have adult children with more significant cognitive disability need
trial of gluten-free diet may be indicated. However, current evidence information about the range of adult disability services, how to apply
does not support this as a treatment for all children with ASD. for supplemental security income (SSI), and the process for considering
When discussing CAM with a family, it is best to use open and guardianship or medical and financial conservatorship for their adult
collaborative communication, encouraging them to share their current child. These decisions are complex and must be individualized for the
practices and any questions. Specifically ask if they use any herbal adult with ASD and the family.
treatments, supplements, or other therapies, such as acupuncture,
massage, or chiropractic treatment, and what they have observed since OUTCOME
trying the treatment. Provide accurate information regarding potential Autism spectrum disorder is a lifelong condition. Although a minority
benefit and risk for any treatment. Educate about “red flags” such as of individuals respond so well to therapy that they no longer meet
treatments that are marketed as a cure for multiple conditions, that criteria for the diagnosis, most will make progress but continue to have
report no risk of side effects, or that are marketed by the clinician recom- some impairment in social and behavioral function as adults. Adult
mending the treatment. Encourage families to identify a target symptom, outcome studies are sobering, indicating that many adults with ASD
“try one thing at a time,” and monitor response carefully. are socially isolated, lack gainful employment or independent living,
and have higher rates of depression and anxiety. It is not clear if these
Transition data can be extrapolated to younger children currently receiving intensive
Navigating a successful transition to adult care is a key role for the educational therapies. There is a growing network of adult self-advocates
pediatric provider. This process should ideally start as early as age who promote the unique strengths in individuals with ASD. Outcome
12-13 yr. Parents are faced with a complex and disconnected system of as measured by developmental progress and functional independence
diverse agencies that they need to navigate. Use of structured-visit is better for individuals who have higher cognitive and language skills
templates and care coordinators can help ensure that families and their and lower ASD severity at initial diagnosis.
youth with ASD are able to make appropriate decisions about secondary
and postsecondary educational programming, vocational training, Bibliography is available at Expert Consult.

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P1 P2- Developmental and Learning DO Part 1 and 2

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P1 P2- Developmental and Learning DO Part 1 and 2

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Learning and PART

Neurodevelopmental and variations in cortical thickness in areas of the brain known to

traumatic brain injury, anoxia, effects of radiation treatment in childhood

answering open-ended questions, dealing with abstract information,

Primary Care Approach to Neurodevelopmental and Executive Dysfunction

History and Examination Neurodevelopmental & Emotional Assessment

Evaluation and Diagnosis

Psychoeducational Assessment Developmental and/or Psychosocial Assessment

Medical Home Educational, Developmental, Mental Health

Fig. 48.1 Primary care approach to neurodevelopmental and executive dysfunction.

behaviors (e.g., substance abuse), difficulty maintaining relationships,

Table 49.1 DSM-5 Diagnostic Criteria for Attention-Deficit/Hyperactivity Disorder (ADHD)

Poor concentration Hyperactivity Impulsivity

Difficulties with Struggle to Constrantly Less aware Strained family and

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

present with comorbid neuropsychiatric diagnoses, including oppositional

Mood disorders Suicide CLINICAL MANIFESTATIONS

Physical Examination and Laboratory Findings Behaviorally Oriented Treatments

Bibliography Knight M: Stimulant-drug therapy for attention-deficit disorder (with or without

Bibliography is available at Expert Consult.

MATH LEARNING DISABILITY DEFINED

factors outlined in Table 51.2 should encourage the parents to discuss

Bibliography is available at Expert Consult.

Bibliography Mazzocco M: Mathematics awareness month: why should pediatricians be aware of

Most children learn to communicate in their native language without

NORMAL LANGUAGE DEVELOPMENT

Table 52.1 Normal Language Milestones: Birth to 5 Years

Table 52.2 DSM-5 Diagnostic Criteria for Communication Disorders

disadvantage in the social arena. Children with SLI tend to be more

Higher-Level Language Disorder

MOTOR SPEECH DISORDERS RARE CAUSES OF LANGUAGE IMPAIRMENT

Table 52.3 Speech and Language Screening

Diagnostic Evaluation Speech and Language Evaluation

Bibliography Peterson RL, Pennington BF: Developmental dyslexia, Lancet 379(9830):1997–2007,

Bibliography is available at Expert Consult.

Conceptual skills include language, reading, writing, time, number

Table 53.2 Physical Examination of a Child With Suspected Developmental Disabilities

Table 53.2 Physical Examination of a Child With Suspected Developmental Disabilities—cont’d

Table 53.3 Examples of Minor Anomalies and Associated Syndromes*†

Table 53.3 Examples of Minor Anomalies and Associated Syndromes*†—cont’d

level, their mild ID might not be appreciated, even by professionals,

Global Developmental Delay / Intellectual Disability

Dysmorphology / Multiple Congenital Anomalies Features Unexplained GDD/ID

High-Risk Features Including Regression

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

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

AGAT deficiency Creatine

Homocystinuria (&UOA) Cobalamin E Deficiency

Table 53.6 Treatable Intellectual Disability Endeavor (TIDE) Diagnostic Protocol

*Low threshold for ordering tests.

Table 53.8 Causes of Progressive Encephalopathy

Disorders of Amino Acid Metabolism Disorders of Lysosomal Enzymes

Bibliography Robertson J, Emerson E, Hatton C, et al: Eftcacy of community-based rehabilita-

and not be better explained by the diagnoses of intellectual disability

Table 54.4 DSM-5 Severity Levels for Autism Spectrum Disorder

Table 54.5 Common Co-occurring Conditions in Autism Spectrum Disorder (ASD)

Table 54.5 Common Co-occurring Conditions in Autism Spectrum Disorder (ASD)—cont’d

Additional Targeted Genetic Testing

Table 54.8 Common Pharmacologic Treatments in Autism Spectrum Disorder (ASD)

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