Mental Retardation

 Mental Retardation is defined as “significantly sub-average general intellectual

functioning as associated with significant deficit or impairment in adaptive
functioning which manifests during the developmental period (before 18 years of
age)”
 1-3% of the population has mental retardation.
 It is usually assessed on a standardized intelligence test with significantly sub-average
intelligence as two standard deviations below the mean (usually IQ of below 70).
 Adaptive behaviour is a person’s ability to meet responsibilities of social, personal,
occupational and interpersonal areas of life, appropriate to age, sociocultural and
educational background.
 Adaptive behaviour is measured by clinical interview and standardized assessment
scales.
 Mental retardation must be deficit in both general intellectual functioning and
adaptive behaviour, not just a low IQ.
 Mental Retardation on the basis of IQ can be calculated by Mental Age
(MA)/Chronological Age (CA) x 100

MENTAL RETARDATION LEVEL IQ RANGE

MILD 50-70
MODERATE 35-50
SEVERE 20-35
PROFOUND <20

 Mild Mental Retardation

o Most common type of mental retardation accounting to 85-90 % of the cases.
o The diagnosis is made usually later than in other types of mental retardation.
o These children perform well in preschool and develop normally with very
little deficit. They often progress up to grade 6 with little support.
o They need supervised care only in the presence of stressful conditions or in the
presence of an associated disease.
o In educational classification, they are referred to as ‘educable’
 Moderate Mental Retardation
o About 10% of all persons with MR have an IQ between 35-50.
o In educational classification, they are referred to as ‘trainable’
o These children learn how to speak but often drop out of school around 2nd
grade. They can be trained to support themselves by performing semi-skilled
or unskilled work under supervised occupational settings.
 Severe Mental Retardation
o This is recognized early in life with poor motor development and significantly
delayed developmental milestones. They also have absent or markedly delayed
speech and other communication skills.
o At best, they can perform simple tasks under close supervision.
o In educational classification, they are referred to as ‘dependent’
  Profound Mental Retardation
o This group accounts for 1-2 % of all persons with mental retardation.
o There are associated physical disorders which often contribute to mental
retardation.
o The achievement of developmental milestones is markedly delayed and they
often need nursing care or life support under a carefully planned and
structured environment (group homes or residential placements)

Aetiology

 This can be caused by both biological and psychological factors.

 There appears to be a greater prevalence of mental retardation among males.
 Genetic factors (probably in 5% of the cases)
1. Chromosomal abnormalities - Down’s syndrome (person has an extra
chromosome), Fragile-X syndrome (changes in the gene called FMR1),
Turner’s syndrome (affects only women where one of the X chromosome is
partially or completely missing), Klinefelter’s syndrome (only affecting males
when they are born with an extra X chromosome)
2. Inborn errors of metabolism involving:

3. Amino acids - Phenylketonuria, Homo-cystinuria, Hartnup’s disease

4. Lipids - Tay-Sachs disease, Gaucher’s disease, Niemann-Pick disease
5. Carbohydrates - Galactosaemia, glycogen storage diseases
6. Purines - Lesch-Nyhan Syndrome
7. Mucopolysaccharides - Hurler’s disease, Hunter’s disease, Sanfillipo’s disease

8.Single Gene disorders - Tuberous Sclerosis, Neurofibromatosis, Dystrophia

Myotonica
9. Cranial anomalies - Microcephaly
 Perinatal Causes (probably in 10% of the cases)
1. Infections - Rubella, Syphilis, Toxoplasmosis, Cytomegalo-inclusion body
disease
2. Prematurity
3. Birth trauma
4. Hypoxia
5. Intrauterine growth retardation (IUGR)
6. Kernicterus
7. Placental abnormalities
8. Drugs during first trimester
 Acquired Physical Disorders in childhood (probably 2-5% of the cases)
1. Infections
2. Cretinism
3. Trauma
4. Lead poisoning
5. Cerebral palsy
 Socio-cultural Causes (probably in 15% of the cases)
1. Deprivation of socio-cultural stimulation
 Psychiatric Disorders (probably in 1-2% of the cases)
1. Pervasive developmental disorders (Infantile Autism)
2. Childhood onset schizophrenia
Phenylketonuria

 An inborn error in metabolism that accounts for 0.5 - 1% of all cases of mental
retardation.
 It is an autosomal recessive (AR) disorder, most prevalent in North Europe.
 The basic defect is absence or inactivity of phenylalanine hydroxylase, a hepatic
enzyme which is responsible for catalysis of phenylalanine to paratyrosine
conversion. This results in marked increase in blood phenylalanine levels and its
metabolites. There is also a decrease in serotonin, nor-epinephrine and epinephrine
levels in the brain.
 Majority of patients with phenylketonuria have severe mental retardation - with short
stature, fair complexion with coarse features, widely spaced upper incisors,
eczematous dermatitis, epilepsy, hyperactivity, poor communication skills and poor
motor coordination.
 Diagnosis can only be made after these following investigations:

1. Ferric Chloride Test - Addition of FeCl3 to urine gives a green colour in patients. This
is because of the presence of phenylpyruvic acid in urine.
2. Guthrie’s Test - This involves a bacteriological procedure for measurement of
phenylalanine levels in blood
3. Chromatography - An early diagnosis is important as mental retardation in
phenylketonuria is preventable. This is done by low phenylalanine diet best started
before 6 months of age and continued up to 5-6 years.

Other disorders which cause mental retardation and are preventable by dietary treatment
include:

 Homocystinuria - Treatment is with methionine free diet

 Galactosaemia - Treatment is with lactose and galactose free diet
 Menkes’ disease (Maple syrup urine disease) - Treatment with diet low in leucine,
iso-leucine and valine
  Hyperprolinaemia - treatment with low protein, leucine deficient diet
 Fructose intolerance - fructose, sucrose and other sugars should be replaced in diet

Down’s Syndrome

This occurs in 1 out of 700 births, accounts for about 10% of children with moderate to
severe mental retardation.

There are three types of chromosomal aberrations in Down’s syndrome:

 Trisomy 21 - most common where karyotype of mother is normal

 Mosaicism - both normal and trisomic cells are present
 Translocation between chromosome 21 and 15 - the total number of chromosomes is
46 in spite of 3 chromosomes at 21. The translocation is inherited with asymptomatic
carriers containing only 45 chromosomes

The most important risk factor is maternal age being >35.

Clinical features include generalized hypotonia, hyper flexibility, round face, oblique
palpebral fissures, a flat nasal bridge, short ears, loose skin folds at the nape of the neck,
persistent epicanthic folds, single palmar crease, high arched palate, thick tongue, incurved
little fingers and brush field spots on irises.

Other common diseases in children with down syndrome includes:

 Congenital heart disease (35% of the cases)

 Gastrointestinal anomalies (10% of the cases)
 Chronic serous otitis media (in >50% of the cases)
 Hypothyroidism
 Alzheimer’s disease (in 30s and 40s)
 Epilepsy (in 10% of the cases)
 Ocular disorders
 Reduced fertility and reduced life span

There is no effective pharmacological treatment present at the moment.

Tuberous Sclerosis

It is autosomal dominant disorder also known as epiloia. It occurs in 1:15,000 persons in the
general population.

The clinical features of Tuberous Sclerosis are called the Vogt’s triad which consists of:

 Mental retardation ranging from mild to severe

 Convulsions
 Adenoma Sebaceum - present on the face (red) and the rest of the body (brownish
white). The distribution on the face is of butterfly type.

Multiple glial nodules appear throughout the cerebral cortex and cerebellum. Tumors in
various parts of the body might also occur. Periosteal thickening, pulmonary fibrosis, renal
failure and cardiac failure can be manifested.

There is no effective treatment for the disease. Only symptomatic management of seizures
and other systemic manifestations.

Fragile X Syndrome

 This occurs in about 1:1000 live births, diagnosed using chromosomal studies.
 The characteristic presence of a fragile site of the tip of the long chromosome appears
as a constriction.
 Clinical features - short stature, large head, large bat ears, long face and big sized
testes.
 Associated psychiatric disorders include ADD (attention deficit disorder)

Cretinism

 Goitrous Cretinism is endemic to iodine deficient areas such as the Himalayan Belt.
 Clinical features include - Goitre, Dwarfism, coarse skin, ossification (process of bone
formation) delays, apathy, hoarseness of voice, tongue, subnormal temperature, pot
belly, anaemia, hypotonia (decreased muscle tone) of muscles, hypertelorism
(increased distance between two body parts) and mental retardation.

Cerebral Palsy

 This is a syndrome consisting of conglomeration of perinatal disorders of various

etiologies presenting with a common feature of paralysis of limbs.
 The paralysis can be - monoplegia, hemiplegia, paraplegia, triplegia or quadriplegia.
It is usually of upper motor neuron type presenting with spasticity (abnormal muscle
tightness due to prolonged muscle contraction)
 Extrapyramidal symptoms might be present and seizures may occur.
 Mental retardation is present in up to 70% of all cases.
Diagnosis
The diagnosis for mental retardation can be made by the following steps:

1. History
2. General Physical Examination
3. Detailed Neurological Examination
4. Mental Status Examination - for the assessment of associated psychiatric illness and
clinical assessment of level of intelligence
5. Investigations

 Routine investigations
 Urine test - phenylketonuria and Maple Syrup Urine disease
 EEG - presence of seizures
 Blood levels - for inborn errors in metabolism
 Chromosomal studies - Down’s syndrome
 CT scan or MRI Scan of brain - Tuberous Sclerosis, Focal Seizures, Unexplained
neurological symptoms, anomalies of skull configuration, severe or profound mental
retardation without apparent cause, toxoplasmosis
 Thyroid function tests - cretinism
 Liver function tests - mucopolysaccharidosis

6. Psychological tests for measurement of intelligence:

 Sequin form board test

 Stanford Binet, Binet Simon, Binet-Kamath test
 Wechsler Intelligence Scale for Children - 6.5 to 12 years
 Wechsler’s Preschool and Primary Scale of Intelligence - 4 to 6.5 years of age
 Bhatia’s battery of performance test
 Raven’s Progressive Matrices (coloured, standard and advanced)

7. Psychological tests for adaptive behaviour:

 Vineland Social Maturity Scale (VSMS)

 Gessell’s Development Scale
 Denver Development Screening test (DDST)

Differential Diagnosis

The following conditions should be kept in mind as they can be mistaken for MR:

 Deaf and Dumb

 Deprived children with inadequate social stimulation
 Isolated Speech Deficits
 Psychiatric disorders (infantile autism or childhood onset schizophrenia)
 Systemic Disorders (with only physical debilitation)
 Epilepsy

Management
Primary Prevention:

 Improvement in socioeconomic condition of society at large, aiming at elimination of

under-stimulation, malnutrition, prematurity and perinatal factors.
 Education of lay public, aiming at removal of the misconceptions about individuals
with mental retardation.
 Medical measures for good perinatal medical care to prevent infections, trauma,
excessive use of medications, malnutrition, obstetric complications, and diseases of
pregnancy.
 Universal immunization of children with BCG, polio, DPT, and MMR.
 Facilitating research activities to study the causes of mental retardation and their
treatment.
 Genetic counselling in at-risk parents, e.g. in phenylketonuria, Down’s syndrome

Secondary Prevention:

 Early detection and treatment of preventable disorders, e.g. phenylketonuria (low

phenylalanine diet), maple syrup urine disease (low branched amino-acid diet) and
others as discussed earlier; hypothyroidism (thyroxine).
 Early detection of handicaps in sensory, motor or behavioural areas with early
remedial measures and treatment.
 Early treatment of correctable dis orders, e.g. infections (antibiotics), skull
configuration anomalies (surgical correction).
 Early recognition of presence of mental retardation. A delay in diagnosis may cause
unfortunate delay in rehabilitation.
 As far as possible, individuals with mental retardation should be integrated with
normal individuals in society, and any kind of segregation or discrimination should be
actively avoided. They should be provided with facilities to enable them to reach their
own full potential. However, there is a role of special schools for those with more
severe mental retardation.

Tertiary Prevention:

 Adequate treatment of psychological and behavioural problems.

 Behaviour modification, using the principles of positive and negative reinforcement.
 Rehabilitation in vocational, physical, and social areas, commensurate with the level
of handicap.
 Parental counselling is extremely important to lessen the levels of stress, teaching
them to adapt to the situation, enlisting them (especially parents) as co-therapists, and
encouraging formation of parents’ or careers’ organization and self-help groups.
 Institutionalization or residential care may be needed for individuals with pro found
mental retardation.
 Legislation: In 1995, the ‘Persons with Disability Act’ came in to being in India. This
act envisages mandatory support for prevention, early detection, education,
employment, and other facilities for the welfare of persons with disabilities in general,
and mental retardation in particular. This Act provides for affirmative action and non-
discrimination of persons with disabilities. In 1999, the ‘National Trust Act’ came in
to force. This Act proposes to involve the parents of mentally challenged persons and
voluntary organizations in setting up and running a variety of services and facilities
with govern mental funding.
References:
Ahuja, N. (2006). A Short Textbook of PSYCHIATRY. ed. New Delhi. Jaypee brothers
medical publishers (p) ltd. Pp–2.