Intellectual Disability

TERMINOLOGY

Genetics: study of heredity and its variations.

Genes: basic biological units carrying inherited physical, mental or personality traits.

Chromosomes: the threadlike or rod-like bodies that contain genetic information and material.

Autosomes: matching pairs that constitute 44 of the 46 chromosomes within human complement.

Sex Chromosomes: the other pair of chromosomes that determines the sex of human beings. X represents
the female sex and Y presents the male sex.

MAJOR CAUSES

Genetic Transmission

 Dominant Transmission: an individual gene dominates over the other gene and operates
 Recessive Transmission: when genes cannot dominate. They move away when paired with a
dissimilar gene and become influential when paired with another recessive gene.
 Sex Linked Inheritance: Name derives from a variety of recessive traits carried on the X
chromosomes. The female has two X chromosomes, and a specific gene carrying disorder can be
dominated by its partner. But, in male (XY) will inevitably affected by a single recessive gene
carried on X chromosome.
 Polygenic Inheritance: in polygenic or Multi-genic inheritance, unlike to other types of inheritance;
the interaction and networking of multiple genes affects the level of intellectual functioning of
individuals.

Dominant Transmission:

 Determines a variety of common traits

 Inherits several rare physical disorders (e.g. Marfan’sSyndrome : includes tall stature, loose joints
of limbs, heart disorders, and Achrondoplasia, Neurofibromatosis: light brown patches on the skin,
multiple, soft and fibrous swelling or tumors that grow on nerves and elsewhere on the body, which
can cause severe retardation.Tuberous Sclerosis: skin disease, its tumors are similar to potatoes and
destroy the cells of body where they are found, in mild stage cause to retardation, in severe form
tumors can result in dysfunction of different organs, followed by mental retardation, epilepsy and
early death)

Recessive Transmission:

 Recessive traits involve disorders capable of producing severe disabilities.

 In the field of mental retardation: Phenylketonuria, Tay - Sachs disease and Galactosemia.
 Metabolic Disorders:
 Tay – Sachs Disease: an autosomal recessive trait; manifests in first year of child’s birth,
followed by severe mental retardation, convulsions, blindness and death by the age of
four.
 Galactosemia: Autosomal recessive disorders, inability to metabolize galactose into
glucose, includemental retardation, liver and kidney dysfunctions and cataracts.
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 Phenylketonuria:the most common of the genetic disorders, caused by autosomal

recessive gene and if left untreated produces retardation. It is frequently associated with
aggression, hyperactivity, destructiveness and other disruptive behaviors.

Sex Linked Inheritance:

 Involves disorders which can produce retardation

 Lesch-Nyhan Syndrome:the second most common metabolic disorder; uncontrollable urge
to cause injury to oneself and to a lesser extent, to others.

Polygenic Inheritance:

 In polygenic or Multi-genic inheritance, unlike to other types of inheritance; the interaction and
networking of multiple genes affects the level of intellectual functioning of individuals.

Chromosomal Deviations

The second major source of biological causes of disabilities is chromosomal anomalies. Disorders of this
type usually result from abnormalities during the stage of cell division called MEIOSIS. The abnormalities
include:

 Nondisjunction: a given parental pair of chromosomes fails to split at conception causing the
formation of a group of three chromosomes (trisomy) in lieu of normal pair.
 Translocation: a fragment of chromosomal material is located across from or exchanged with
another chromosomal pair.
 Deletion: portion of the genetic material is absent from specific chromosome pair.
 Mosaicism: an uneven pattern of dissimilar cells of 46 and 47 chromosomes.

Disorders Caused by Chromosomal Deviations

Down syndrome: best known, most prevalent and most frequently researched type of biologically
caused retardation caused by trisomy 21. The specific deleterious factors that have been suspected of
causing trisomy 21 include the medication and drugs, exposure to radiation, chemicals or hepatitis
virus and possible absence of mechanism in the mother to abort the fetus spontaneously.

Fragile X Syndrome:Thisdisorder is caused by deficiency in the formation of X chromosomes.

Physical characteristic of Fragile X Syndrome include prominent jaws, macro-orchidism (large
testes), long and thin faces , long and soft ears and hands, prominent foreheads and enlarged heads. It
includes several levels of mental retardation and normal intelligence also. Behavioral manifestations
may include attention difficulties, repetitive behaviors, gaze avoidance and speech & language
patterns may include echolalia, perseverative use of given utterances, and palilalia.

KlinefelterSyndrome:is a condition in which males receive and extra X chromosome, so that they
have XXY arrangement. The syndrome is often associated with borderline or mild level of mental
retardation.

Turner Syndrome:it results from absence of an X chromosome in females, so that they get XO
arrangement. This is the true example of monosomey. It does not cause retardation but it is suspected
in manifestation of learning disabilities.
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Prader-Willi Syndrome: It is caused by a partial deletion of chromosome 15. It is characterized by

delay in motor and mental development, hypogenital development, instable appetite, small features
and stature.

Cranial Malformations

Cranial malformations include:

 Anencephaly: literally, absence of major portion of brain.

 Microcephaly: characterized by small, conical skull and curved spine that leads to a stooping
posture and severe retardation.
 Hydrocephalus: it consists of at least sex types of problems associated with interference in the flow
of cerebrospinal fluid within the skull. The most common type of blockage results in progressive
enlargement of the cranium and subsequent brain damage.

Congenital factors

 Maternal Disease
 Rubella (German Measles):infection of mother by rubella early in pregnancy has been
found to result fetal defects which may cause mental retardation.
 Congenital Syphilis:It is another maternal disease that can damage central nervous system
and result in severe effects on developing fetus.
 Blood Group Incompatibility:Blood Group Incompatibility between mother and un-born
child is another significant cause of mental retardation.
 Substance Exposure
 Effects of drugs and industrial chemicals on the fetus
 Nicotine, caffeine, lysergic acid and other drugs
 Fetal alcohol syndrome: fetus born to alcoholic mothers
 Prematurity and Perinatal Concerns
 Prematurity and low birth weight
 Birth aysphaxia
 Kernicterus
 Intraventricularhemorrhage
 Post Natal Concerns
 Head Injuries
 Child Abuse
 Lead Poisoning
 Nutritional deficiencies

A Short View of Causes

 Genetic conditions. Sometimes disability is caused by abnormal genes inherited from parents, errors
when genes combine, or other reasons. The most prevalent genetic conditions includeDown
syndrome, Klinefelter's syndrome, Fragile X syndrome (common among
boys), Neurofibromatosis, congenital hypothyroidism, Williams syndrome, Phenylketonuria (PKU),
and Prader-Willi syndrome. Other genetic conditions include Phelan-McDermid syndrome
(22q13del), Mowat-Wilson syndrome, genetic ciliopathy and Siderius type X-linked intellectual

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disability(OMIM 300263) as caused by mutations in the PHF8 gene (OMIM 300560). In the rarest
of cases, abnormalities with the X or Y chromosome may also cause disability. 48, XXXX and49,
XXXXX syndrome affect a small number of girls worldwide, while boys may be affected by
47, XYY, 49, XXXXY, or 49, XYYYY.
 Problems during pregnancy. Intellectual disability can result when the fetus does not develop
properly. For example, there may be a problem with the way the fetus' cells divide as it grows. A
woman who drinks alcohol (see fetal alcohol syndrome) or gets an infection like rubella during
pregnancy may also have a baby with intellectual disability.
 Problems at birth. If a baby has problems during labor and birth, such as not getting enough oxygen,
he or she may have developmental disability due to brain damage.
 Exposure to certain types of disease or toxins. Diseases like whooping cough, measles,
or meningitis can cause intellectual disability if medical care is delayed or inadequate. Exposure
topoisons like lead or mercury may also affect mental ability.
 Iodine deficiency, affecting approximately 2 billion people worldwide, is the leading preventable
cause of intellectual disability in areas of the developing world where iodine deficiency isendemic.
Iodine deficiency also causes goiter, an enlargement of the thyroid gland. More common than full-
fledged cretinism, as intellectual disability caused by severe iodine deficiency is called, is mild
impairment of intelligence. Certain areas of the world due to natural deficiency and governmental
inaction are severely affected. India is the most outstanding, with 500 million suffering from
deficiency, 54 million from goiter, and 2 million from cretinism. Among other nations affected by
iodine deficiency, China and Kazakhstan have instituted widespread iodization programs, whereas,
as of 2006, Russia had not.
 Malnutrition is a common cause of reduced intelligence in parts of the world affected by famine,
such as Ethiopia
 Absence of the arcuate fasciculus.