Mental Retardation

Prepared from Neeraj Ahuja’s Short

Textbook of Psychiatry
Generated by AI
Mental Retardation - Slide 1
Mental Retardation
155
9 months Speaks mama, dada, m-m-m, ah (and
other vowel sounds); Responds to name
10 months
Understands spoken speech to some
extent, e.g. where is ‚mama™?
1-1¼ years Uses 3-5 words meaningfully

18 months About 10 words spoken including name

2 years
Combines 2 different words; Names

at least one object in picture; Points to

at least one named body part; Simple

sentences made
3 years Uses plurals; Has a fairly good vocabu-
Mental Retardation - Slide 2
mirror-image of self
9 months Responds to social play; Resists pulling
away of toy and tries to reach for it;

Holds milk-bottle and eats a biscuit all

by oneself
1½ years Feeds oneself with a spoon, with little
spilling; Mimics actions of others; Pulls

a toy with a string; Toilet training started

2 years
Wears simple garments, socks and shoes
3 years Unbuttons buttons; Buckles shoes; Can
dress and undress, with help
4 years
Buttons the dress well; Washes own face;

Plays with other children easily; Sepa-

Mental Retardation - Slide 3
iii. Ability of abstraction, i.e. ability to gene ralise
from speci
Þ
c and ability to
Þ
nd simi larities and
differences among speci
Þ
c objects.
Adolescent Thinking or Formal
Operational Stage
This stage begins at 11 years of age and continues
life-long. This is characterised by:

i. Ability to imagine the possibilities inherent in a

situation, thus making the thought comprehen-

sive.
ii. Ability
to develop complete abstract hypotheses
Mental Retardation - Slide 4
One to three percent of the general population has

mental retardation. In some countries (such as UK),

the word
learning disability
is used instead to avoid
the pejorative connotations associated with the word

mental retardation
. However, in this book, the term
mental retardation is retained as it is the preferred term

in both ICD-10 and DSM-IV-TR.

Mental retardation is defined as significantly

sub-average general intellectual func tioning, as-

sociated with significant deficit or impairment

Mental Retardation - Slide 5
sessed on a standardised intelli gence test with sig-

ni
Þ
cantly sub -ave rage intelligence as two standard
deviations below the mean (usually an IQ of below

70), whilst adaptive behaviour is the person™s ability to

meet responsibilities of social, personal, occupational

and interpersonal areas of life, appropriate to age,

sociocul tural and educational background. Adaptive

behaviour is measured by clinical interview and

standardised assessment scales.

Very often, it is assumed that the persons with

Mental Retardation - Slide 6
retardation vary in their behavioural, psycholo gical,
physical and social charac teris tics as much as the so-

called ‚normal™ general population does.

Another common error is taking the IQ score as

the measure of someone™s intelligence. It should be re-

membered that a person with mental retardation must

have a de
Þ
cit in both general intellectual functioning
and adaptive behaviour.

Aclassi
Þ
cation of mental retardation on the basis
of IQ ( Intelligence Quotient, which is equal to mental
Mental Retardation - Slide 7
This is the commonest type of mental retardation,

accounting for 85-90% of all cases. The diagnosis

is made usually later than in other types of mental

retardation.

In the preschool period (before 5 years of age),

these children often develop like other normal children,

with very little de

Þ
cit. Later, they often progress up to
the 6th class (grade) in school and can achieve voca-

tional and social self-suf

Þ
ciency with a little support.
Mental Retardation - Slide 8
Moderate Mental Retardation
About 10% of all persons with mental retardation have

an IQ between 35 and 50. In the educational classi-

Þ
cation, this group was earlier called as ‚trainable™,
although many of these persons can also be educated.

In the early years, despite a poor social awareness,

these children can learn to speak. Often, they drop

out of school after the 2nd class (grade). They can be

trained to support them selves by performing semi-

skilled or unskilled work under supervision. A mild

stress may destabilise them from their adaptation; thus

Mental Retardation - Slide 9
Mental Retardation Level
IQ Range
1. Mild
50-70*
2. Moderate
35-50*
3. Severe
20-35*
4. Profound
<20*
(*As intelligence tests employed to measure IQ generally
have an error of measurement of about 5 points, each

Þ
gure means ± 5 points, e.g. IQ of 50 means an IQ of
50 ± 5, depending on the adaptive behaviour).
Severe Mental Retardation
Severe mental retardation is often recognised early
in life with poor motor development (signi
Þ
Mental Retardation - Slide 10
best, they can perform simple tasks under close super-

vision. In the earlier educa tional classi

Þ
cation, they
were called as ‚dependent™.
Profound Mental Retardation
This group accounts for about 1-2% of all persons with

mental retardation. The associated physical disorders,

which often contribute to mental retardation, are com-

mon in this subtype.

The achievement of developmental mile stones is

markedly delayed.They often need nursing care or

‚life support™ under a carefully planned and structured

Mental Retardation - Slide 11
only by biological factors but also by psychosocial

factors. In more than one third of cases, no cause can

be found despite an extensive search.

Some of the common causes of mental retarda-

tion are listed inTable 13.3. There appears to be a

Mental Retardation
157
1. Genetic (probably in 5% of cases)
i. Chromosomal abnormalities (such as Down™s
syndrome, Fragile-X syndrome, Turner™s syn-
drome, Klinefelter™s syndrome)
ii. Inborn errors of metabolism, involving amino-
acids (phenylketonuria, homo-cystinuria,

Hartnup™s disease), lipids (Tay-Sachs disease,

Mental Retardation - Slide 12
diseases), purines (Lesch-Nyhan syndrome),

and mucopolysaccharides (Hurler™s disease,

Hunter™s disease, San

Þ
llipo™s disease).
iii. Single-gene disorders (such as tuberous sclero-
sis, neuro
Þ
bromatosis, dystrophia myotonica)
iv. Cranial anomalies (such as microcephaly)
2. Perinatal causes (probably in 10% of cases)
i. Infections (such as rubella, syphilis, toxoplas-
mosis, cytomegalo-inclusion body disease)
ii. Prematurity
iii. Birth trauma

iv. Hypoxia
Mental Retardation - Slide 13
i. Infections, especially encephalopathies

ii. Cretinism

iii. Trauma

iv. Lead poisoning

v. Cerebral palsy.
4. Sociocultural causes
(probably in 15% of cases)
i. Deprivation of sociocultural stimulation.
5. Psychiatric disorders
(probably in 1-2% of cases)
i. Pervasive developmental disorders (such as
Infantile autism)
ii. Childhood onset schizophrenia.
Table 13.3:
Some Causes of Mental Retardation
preponderance of males among people with mental
Mental Retardation - Slide 14
autosomal recessive (AR) disorder, most prevalent

in North Europe. The basic defect is absence or

inactivity of phenylalanine hydroxylase, a hepatic

enzyme, responsible for catalysis of phenyl alanine

to paratyrosine conversion (Fig. 13.5). It results in

marked increase in blood phenyl alanine levels and its

metabolites. There is also a decrease in 5-HT, epine-

phrine and norepinephrine levels in brain.

The majority of patients with phenyl ketonuria

have severe mental retardation. The associated

Mental Retardation - Slide 15
communication skills and poor motor coordination.

EEG may be abnormal in up to 80% of cases.

However, the physical appearance may be normal

and diagnosis made only after investi gations, which

include:

1.
Ferric chloride test:
Addition of FeCl
3
to urine
gives a green colour in patients with phenylke ton-

uria. This results from the presence of phenylpy-

ruvic acid in urine.This test may be positive in

Mental Retardation - Slide 16
of phenylketonuria is preventable, if diagnosis is

made early in life. The treatment consists of a low

phenylalanine diet, best started before the age of

6 months and usually continued up to 5-6 years

of age. The diet should not be completely devoid

of phenyla lanine, as it is an essential amino-acid

and its absence may itself be hazardous.

Other disorders which cause mental retar dation

and are preventable by dietary treatment, include:

A Short Textbook of Psychiatry
158
1. Homocystinuria:The treatment is with methio-
nine-free diet.
Mental Retardation - Slide 17
treatment is with a diet low in leucine, iso-leucine
and valine.
4. Hyperprolinaemia: The treatment is with low
proline diet.
5. Leucine-sensitive hypoglycaemia: The treatment
is with low-protein, leucine-de
Þ
cient diet.
6. Fructose intolerance: Fructose, sucrose and other
sugars should be replaced in diet.
Dow n™s sy ndrome
Down™s syndrome or mongolism occurs in 1 out of

every 700 births. It accounts for about 10% of children

with moderate to severe mental retardation.

There are three types of chromosomal aberra tions

in Down™s syndrome:
Mental Retardation - Slide 18
3. Translocation between chromosome 21 and 15.
Thus, the total number of chromosomes is 46, in

spite of 3 chromosomes at 21. The translocation is

inherited, with asympto matic carriers containing

only 45 chromosomes.
The most important risk factor is higher maternal

age (>35 years), with a risk of 1:50 after the age of

45. The clinical features may include gene ra lised

hypotonia, hyperflexibility, round face, oblique

palpebral
Þ
ssures,a
ß
Mental Retardation - Slide 19
Congenital heart disease (in about 35% of cases),

gastrointestinal anomalies (in about 10%), chronic

serous otitis media (in >50%), hypothyroidism and

Alzheimer™s disease (in 30™s and 40™s), epilepsy (in

about 10%), ocular disor ders, reduced fertility and

reduced life span (often due to antecedent complica-

tions like infections) are common.

The diagnosis is made by clinical assessment and

chromosomal studies. At present, there is no effective

pharmacological treatment available.

Fig. 13.5:
Mental Retardation - Slide 20
population. The charac teristic clinical features are
known as Vogt™s triad, which consist of:

i. Mental retardation, ranging from mild to severe.

ii. Convulsions.

iii.
Adenoma sebaceum
, present on the face (usually

red) and also on the rest of the body (usually

brownish white). The dis tribution on the face

is usually of butter
ß
y type.
Multiple glial nodules appear throughout the cer-
Mental Retardation - Slide 21
There is no effective treatment at present except

symptomatic management of seizures and other sys-

temic manifestations.
Frag ile-X Sy ndrome
This is second commonest chromosomal aberration

causing mental retardation. Occurring in about 1 out

of 1000 live births, it is diagnosed on chromosomal

studies.The characteristic presence of a fragile site

at the tip of the long arm of X-chromosome appears

as a constriction.

Clinically, the person may have a short stature,

Mental Retardation - Slide 22
Goitrous cretinism is a common cause of mental retar-

dation in India. It is endemic in iodine-de

Þ
cient areas
such as the goitrous Himalayan belt. Early recognition

and treat ment is essential, as it is a preventable cause

of mental retardation.

The clinical features include goitre, dwar

Þ
sm,
coarse skin, ossi
Þ
cation delays, apathy, hoarseness of
voice, large tongue, subnormal tempe rature, pot belly,

anaemia, hypotonia of muscles, hypertelorism and

Mental Retardation - Slide 23
with a common feature of paralysis of limbs.The

paralysis may be mono plegia, hemi plegia, paraplegia,

triplegia or quadriplegia. It is usually of upper motor

neuron type, presenting with spasticity.

The extrapyramidal symptoms may be pre sent

and seizures may occur often. Mental retarda tion is

present in about 70% of all cases, and ranges from

mild to severe.
Diag nosis
The diagnosis is made by the following steps:

1. History.
Mental Retardation - Slide 24
i. Routine investigations.

ii.
Urine test, e.g. for phenylketonuria, maple syrup

urine disease.
iii. EEG, especially in presence of seizures.

iv. Blood levels, for inborn errors of metabolism.

v. Chromosomal studies, e.g. in Down™s syndrome,

prenatal (by amniocentesis or chorionic villus

biopsy) and postnatal.

vi. CT scan or MRI scan of brain, e.g. in tuberous
scle ro sis, focal seizures, unexplained neurologi-

cal syndromes, anomalies of skull con

Þ
guration,
Mental Retardation - Slide 25
haridosis.
6. Psychological tests
A Short Textbook of Psychiatry
160
The commonly used tests for measurement of
intelligence include:
i. Seguin form board test.
ii. Stanford-Binet, Binet-Simon or Binet-Kamath
tests.
iii. W
echsler Intelligence Scale for Children
(WISC) for 6½ to 16 years of age.
iv. Wechsler™s Preschool and Primary Scale of
Intelligence (WPPSI) for 4 to 6½ years of

age.
v. Bhatia™s battery of performance tests.

vi. Raven™s progressive matrices (coloured, stand-

ard and advanced).
Mental Retardation - Slide 26
iii. Gessell™s Development Scale.
Differential Diagnosis
The diagnosis of mental retardation is usually simple.

However, while making this diagno sis, the following

conditions must be kept in mind, as they can be and

are many times mistaken for mental retardation, with

disastrous results.

1. Deaf and dumb (This possibility must always be

ruled out either by clinical examination and/or by

audiometry).
2. Deprived children, with inadequate social stimula-
tion (Although this can also cause mental retarda-

tion, many children become ‚normal™ intellectually

Mental Retardation - Slide 27
childhood onset schizophrenia).
5. Systemic disorders (without mental retardation
but with physical debilitation).
6. Epilepsy.
Management
The management of mental retardation can be dis-

cussed under prevention at primary, secon dary and

tertiary levels.
Primary Prevention
This consists of:

1. Improvement in socioeconomic condition

of society at large, aiming at elimination of

under-stimulation, malnutrition, pre ma tu rity

and perinatal factors.

2. Education of lay public, aiming at remo val of the
Mental Retardation - Slide 28
use of medications, malnut rition, obstetric

complications, and diseases of pregnancy.

4. Universal immunisation of children with BCG,
polio, DPT, and MMR.
5. Facilitating research activities to study the
causes of mental retardation and their treatment.
6. Genetic counselling in at-risk parents, e.g. in
phenylketonuria, Down™s syndrome.
Secondary Prevention
1. Early detection and treatment of pre ven table dis-
orders, e.g. phenylketon uria (low phenylalanine

diet), maple syrup urine disease (low branched

amino-acid diet) and others as discus sed earlier;

hypo thy roidism (thyroxine).

2. Early detection of handicaps in sensory, motor or
Mental Retardation - Slide 29
behavioural areas with early remedial measures

and treatment.
3. Early treatment of correctable dis orders, e.g.
infections (antibiotics), skull configu ration

anomalies (surgical correction).

4. Early recognition of presence of mental retarda-
tion. A delay in diagnosis may cause unfortunate

delay in rehabilitation.
5. As far as possible, individuals with mental
retardation should be integrated with normal

individuals in society, and any kind of seg-

regation or discrimi nation should be actively

avoided. They should be provided with facilities

Mental Retardation - Slide 30
those with more severe mental retardation.
Mental Retardation
161
Tertiary Prevention
1. Adequate treatment of psychological and be-
havioural problems.
2.Behaviour modi
Þ
cation, using the principles of
positive and negative reinforcement.
3. Rehabilitation in vocational, physical, and social
areas, commensurate with the level of handicap.
4. Parental counselling is extremely impor tant
to lessen the levels of stress, teaching them to
adapt to the situation, enlisting them (especially

parents) as co-therapists, and encouraging for-

mation of parents™ or carers™ organisation (s) and

Mental Retardation - Slide 31
needed for individuals with pro found mental

retardation.
6. Legislation: In 1995, the ‚Persons with Dis-
ability Act™ came in to being in India. This act
envisages mandatory support for prevention,

early detection, educa tion, employment, and

other facilities for the welfare of persons with

disabilities in general, and mental retardation

in parti cular.This Act provides for af

Þ
rmative
action and non-discrimination of persons with

disabilities.
In 1999, the ‚National Trust Act™ came in to
Mental Retardation - Slide 32
of services and facilities with govern mental

funding.