MENTAL RETARDATION

Introduction:
The conceptualization of mental retardation includes deficits in cognitive abilities as well as in
behaviors required for social and personal sufficiency, known as adaptive functioning. Wide
acceptance of this definition and intelligence quotient (IQ) are necessary to determine the level
of mental retardation.
Classification:
According to the Diagnostic and Statistical Manual of Mental Disorder (DSM-IV-TR), mental
retardation is defined as significally subaverage general intellectual functioning resulting in, or
associated with, concurrent impairment in adaptive behavior and manifested during the
developmental period, before age of 18. The diagnosis is made regardless of whether the person
has coexisting physical disorder or other mental retardation. Researchers have increasingly
recognized the likely contribution of a host of subtle biological factors, including chromosomal
abnormalities, subclinical lead intoxication, and prenatal exposure to drugs, alcohol, and other
toxins. Furthermore, evidence is increasing that subgroups of persons who are mentally retarded,
such as those with fragile X syndrome.
Developmental Characteristics of Mental Retarded Persons:
Degree of Mental
Retardation

Profound

Severe

Moderate

Mild

Preschool Age (0 to 5
yrs)
Maturation and
Development
Gross retardation;
minimal capacity for
functioning in
sensorimotor areas;
needs nursing care;
constant aid and
supervision required
Poor motor
development; speech
minimal; generally
unable to profit from
training in self-help; little
or no communication
skills
Can talk or learn to
communicate; poor
social awareness; fair
motor development;
profits from training in
self help; can be manage
with moderate
supervision
Can develop social and
communication skills;
minimal retardation in
sensorimotor areas;

School Age (6 to 20 yrs)

Training and Education

Adult (21 yrs and above)

Social and Vocational
Adequacy

Some motor
development present;
may respond to minimal
or limited training in selfhelp

Some motor and speech

development may
achieve very limited selfcare; needs nursing care

Can talk or learn to

communicate; can be
trained in elemental
health habits; profits
from systematic habit
training; unable to profit
from vocational training
Can profit from training
in social and
occupational skills ;
unlikely to progress
beyond second-grade
level in academic
subjects; may learn to
travel alone in familiar
places
Can learn academic
skills up to
approximately sixthgrade level by late

May contribute partially

to self-maintenance
under complete
supervision; can develop
self-protection skills to a
minimal useful level in
controlled environment
May achieve selfmaintenance in unskilled
or semiskilled work
under sheltered
conditions; needs
supervision and
guidance when under
mild social or economic
stress
Can usually achieve
social and vocational
skills adequate to
minimal self-support, but

often not distinguished

from normal until later
age

teens; can be guided

towards social
conformity

may need guidance and

assistance when under
unusual social or
economical stress

Degrees of Severity of Mental Retardation:

The degrees, or levels, of mental retardation are expressed in various terms. DSM-IV-TR presents
four levels of mental retardation: mild, moderate, severe, and profound.
Classification of Intelligence by IQ Range
Classification
Profoud Mental Retardation (MR)
Severe MR
Moderate MR
Mild MR
Borderline
Dull Normal
Normal
Bright Normal
Superior
Very Superior

IQ Range
Below 20 or 25
20 25 to 35 40
35 40 to 50 55
50 55 to about 70
70 79
80 90
90 110
110 120
120 130
130 above

Mild mental retardation (IQ range, 50 - 70) represents approximately 85 percent of persons
with mental retardation. In general, children with mild mental retardation are not identified until
after first or second grade, when academic demands increase. By late adolescence, they often
acquired academic skills at approximately a six grade level. Specific cause for the mental
retardation are often unidentified in this group.
Moderate mental retardation (IQ range, 35 - 50) represents about 10 percent of persons with
mental retardation. Most children with moderate mental retardation acquired language and can
communicate adequately during early childhood. They are challenged academically and often
are not able to achieve academically above a second to third grade level. During adolescence,
socialization difficulties often set these persons apart, and a great deal of social and vocational
support is beneficial.
Severe mental retardation (IQ range, 20 - 35) comprises about 4 percent of individuals with
mental retardation. They may be able to develop communication skills in childhood and often
can learn to count as well as recognize words that are critical to functioning. In this group, the
cause for mental retardation is more likely to be identified that it is in milder forms of mental
retardation.
Profound mental retardation (IQ range below 20) constitutes approximately 1 to 2 percent of
persons with mental retardation. Most individuals with profound mental retardation have
identifiable causes for their condition. Children with profound mental retardation may be taught
some self-care skills and learn to communicate their needs given appropriate training.
Epidemiology:

The prevalence of mental retardation at any one time is estimated to range from 1 percent to 3
percent of population. The highest incidence is in school-age children, with the peak at ages 10
to 14 years. Mental retardation is about 1.5 times more common among men than in women.
Etiology:
Etiological factors in mental retardation can be primarily genetic, developmental, acquired, or a
combination. Genetic causes include chromosomal and inherited conditions; developmental
factors include prenatal exposure to infections and toxins; and acquired syndrome include
perinatal trauma (e.g. prematurity) and sociocultural factors. Among chromosomal and metabolic
disorders, down syndrome, fragile X syndrome, and phenylketonuria (PKU) are most common
disorders that usually produce at least moderate mental retardation.
Genetic Mental Retardation Syndrome and Behavior Phenotypes:
Down Syndrome
Children with these syndrome were originally called mongoloid because of their physical
characteristics of slanted eyes , epicanthal folds , and flat nose. Mental retardation is the
overriding feature of Down syndrome. Most persons with the syndrome are moderately or
severely retarded, with only a minority having an IQ above 50. Mental development seems to
progress normally from birth to 6 months of age; IQ scores gradually decrease from near normal
at 1 year of age to about 30 at older ages. The decline in intelligence may not be readily
apparent. Infantile tests may not reveal the full extent of the defect, which may become manifest
when sophisticated tests are used in early childhood. In down syndrome, language function is a
relative weakness, whereas sociability and social skills, such as interpersonal cooperation and
conformity with social conventions, are relative strengths.
Fragile X Syndrome
Fragile X syndrome is the second most common single cause of mental retardation. The
syndrome results from a mutation on the X chromosome at what is known as the fragile site
(Xq27.3). The fragile site is expressed in only some cells, and it may be absent in asymptomatic
males and female carriers. Much variability is present in both genetic and phenotype expression.
Fragile X syndrome is believed to occur in about 1 of every 1,000 males and 1 or every 2,000
females. The typical phenotype includes a large, long head and ears, short stature,
hyperextensible joints, and postpubertal macroorchidism. The mental retardation ranges from
mild to severe. The behavioral profile of persons with the syndrome includes a high rate of
ADHD, learning disorders, and pervasive developmental disorders, such as autism. Deficits in
language function include rapid perseverative speech with abnormalities in combining words into
phrases and sentences.
Prader-Willi Syndrome
Pader-Willi sundrome is postulated to result from a small deletion involving chromosome 15,
usually occurring sporadically. Its prevalence is less than 1 of 10,000. Persons with the syndrome
exhibit compulsive eating behavior and often obesity, mental retardation, hypogonadism, small
stature, hypotonia, and small hands and feet. Children with the syndrome often have
oppositional and defiant behavior.
Cats Cry (Cri-du-Chat) Syndrome

Children with cats cry syndrome lack part of chromosome 5. They are severely retarded and
show many signs often associated with chromosomal aberrations, such as microcephaly, low-set
ears, oblique palpebral fissures, hypertelorism, and micrognathia. The characteristic cat-like cry
caused by laryngeal abnormalities that gave the syndrome its name gradually changes and
disappears with increasing age.
Other Chromosomal Abnormalities:
Phenylketonuria
PKU was first described by Ivar Asbjorn Folling in 1934 as the paradigmatic inborn error of
metabolism. PKU is transmitted as a simple recessive autosomal mendelian trait and occurs in
about 1 of every 10,000 to 15,000 live births. Most patients with PKU are severely retarded, but
some are reported to have borderline or normal intelligence.
Retts Disorder
Retts disorder is hypothesized to be an X-linked dominant mental retardation syndrome that is
degenerative and affects only females. In 1966, Andreas Rett reported on 22 girls with a serious
progressive neurological disability. Deterioration in communication skills, motor behavior, and
social functioning stats at about 1 year of age. Autistic-like symptoms are common, as are
ataxia, facial grimacing, teeth grinding, and loss of speech. Intermittent hyperventilation and a
disorganized breathing pattern are characteristic while the child is awake. Stereotypical hand
movements, including hand-wringing, are typical. Progressive gait disturbance, scoliosis, and
seizures occur. Severe spasticity is usually present by middle childhood.
Neurofibrosis
Also called von Recklinghausens disease, neurofibromatosis is the most common of the
neurocutaneous syndromes caused by a single dominant gene, which may be inherited or be a
new mutation. The disorder occurs in about 1 of 5,000 births and is characterized by cafe au lait
sponts on the skin and by neurofibromas, including optic gliomas and acoustic neuromas, caused
by abnormal cell mingration. Mild mental retardation occurs in up to one third of those with the
disease.
Tuberous Sclerosis
Tuberous sclerosis is the second most common of the neurocutaneous syndrome; a progressive
mental retardation occurs in up to two thirds of all affected persons. It occurs in about 1 of
15,000persons and is inherited by autosomal dominant transmission. Seizures are present in all
those who are mentally retarded and in two thirds of those who are not. Infantile spasms may
occur as early as 6 months of age. The phenotypic presentation includes ademona sebaceum
and ash-leaf spots that can be identified with a slit lamp.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome is a rare disorder caused by deficiency of an enzyme involved in purine
metabolism. The disorder is X-linked; patients have mental retardation, microcephaly, seizures ,
choteoathetosis and spasticity. The syndrome is also associated with severe compulsive selfmutilation by biting the mouth and fingers. Lesch-Nyhan syndrome is another example of a
genetically determined syndrome with a specific, predictable behavioral pattern.

Adrenoleukodystrophy
The most common of several disorders of sudanophilic cerebral sclerosis, adrenoleukodystrophy
is characterized by diffuse demyelination of the cerebral white matter resulting in visual and
intellectual impairment, seizure, spasticity, and progression to death. The cerebral degeneration
in adrenoleukodystrophy is accompanied by adrenocortical insufficiency. The disorder is
trasmitted by a sex-linked gene located on the distal end of the long arm of the X chromosome.
Maple Syrup Urine Disease
The clinical symptoms of maple syrup urine disease appear during the first week of life. The
infant deteriorates rapidly and has decerebrate rigidity, seizures, respiratory irregularity, and
hypoglycemia. If untreated, most patients die in the first months of life, and the survivors are
severely retarded. Some variants have been reported with transient ataxia and only mild
retardation. Treatment follows the general principles establishes for PKU and consists of a diet.
Acquired and Developmental Factors:
Prenatal Period
Important prerequisites for the overall development of the fetus include the mothers physical,
psychological, and nutritional health during pregnancy. Maternal chronic illnesses and conditions
affecting the normal development of the fetuss CNS include uncontrolled diabetes, anemia,
emphysema, hypertension, and long term use of alcohol and narcotic substances. Maternal
infections during pregnancy, especially viral infections, have been known to cause fetal damage
and mental retardation. The extent of fetal damage depends on such variables as the type of
viral infection, the gestational age of the fetus and severity of the illness.

Rubella

Cytomegalic Inclusion Disease

Syphilis

Toxoplasmosis

Herpes Simplex

Acquired Immune Deficiency Syndrome (AIDS)

Fetal Alcohol Syndrome

Prenatal Drug Exposure

Prenatal exposure to opioids, such as heroin, often results in infants who are small for their
gestational age, with a head circumference below the tenth percentile and withdrawal symptoms
that appear within the first 2 days of life. The withdrawal symptoms of infants include irritability,
hypertonia, tremor, vomiting, a high-pitched cry, and an abnormal sleep pattern. Seizures are
unusual, but the withdrawal syndrome can be life threatening to infants if it is untreated.
Complications of Pregnancy

Toxemia of pregnancy and uncontrolled maternal diabetes present hazards to the fetus and
sometimes result in mental retardation. Maternal Malnutrition during pregnancy often results in
prematurity and other obstetrical complications. Vaginal hemorrhage, placenta previa, premature
separation of the placenta, and prolapse of the cord can damage the fetal brain by causing
anoxia. The potential teratogenic effect of pharmacological agents administered during
pregnancy widely publicized after the thalidomide tragedy (the drug produced a high percentage
of deformed babies when given to pregnant women).
Perinatal Period
Some evidence indicates that premature infants with low birthweight are at high risk for
neurological and intellectual impairments that appear during their school years. Infants who
sustain intracranial hemorrhages or show evidence of cerebral ischemia are especially vulnerable
to cognitive abnormalities.
Acquired Childhood Disorders
Occasionally, a childs developmental status changes dramatically as a result of a specific
disease or physical trauma. In retrospect, it is sometimes difficult to ascertain the full picture of
the childs developmental progress before the insult, but the adverse effects on the childs
development or skills are apparent afterward.

Infections

Head Trauma

Other Issues

DSM-IV-TR Diagnostic Criteria for Mental Retardation

A. Significantly subaverage intellectual functioning: an IQ of approximately 70 or below on an
individually administered IQ test (for infants, a clinical judgment of significantly
subaverage intellectual functioning).
B. Concurrent deficits or impairments in present adaptive functioning (i.e., the persons
effectiveness in meeting the standards expected for his or her age by his or her cultural
group) in at least two of the following areas:
communication, self-care, home living, social/interpersonal skills, use of community
resources, self-direction, functional academic skills, work, leisure, health, and safety.
C. The onset is before age 18 years.
Code based on degree of severity reflecting level of intellectual impairment:
Mild mental retardation: IQ level 50-55 to approximately 70
Moderate mental retardation: IQ level 35-40 to 50-55
Severe mental retardation: IQ level 20-25 to 35-40
Profound mental retardation: IQ level below 20 or 25
Mental retardation, severity unspecified: When there is strong presumption of mental
retardation but the persons intelligence is untestable by standard tests.
Treatment:

The treatment of individuals with mental retardation is based on an assessment of social,

educational, psychiatric and environmental need. Mental retardation is associated with variety of
comorbid psychiatric disorders that often require specific treatment, in addition to psychosocial
support. Of course, when preventative measures are available, optimal treatment of conditions
that could lead to mental retardation include primary, secondary and tertiary prevention.
Primary Prevention
Primary prevention concerns action taken to eliminate or reduce the conditions that lead to
development of the disorders associated with mental retardation.
Secondary and Tertiary Prevention
Once a disorder associated with mental retardation has been identified, the disorder should be
treated to shorten the course of the illness (secondary prevention) and to minimized the sequel
or consequent disabilities (tertiary prevention)