MENTAL RETARDATION

OUTLINE
Definition
Epidemiology
Etiology
Classification
Clinical features
Diagnosis
Management
Outcome and Prevention
Intellectual disability

Intellectual disability (ID) refers to a group of

disorders that have in common deficits of adaptive
and intellectual function and an age of onset before
maturity is reached.

 It is defined by an IQ under 70 in addition to

deficits in two or more adaptive behaviors  that
affect everyday, general living.
 Adaptive behavior
 Adaptive : refers to the skills required for people to
function in their everyday lives. And It consist of
Conceptual skill, Social skills and practical skills.

Conceptual skills include language, reading, writing, time,
number concepts, and self-direction.

 Social skills include interpersonal skills, personal and

social responsibility, self-esteem, and ability to follow
rules, obey laws, and avoid victimization.
 Adaptive behavior
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
 Global developmental delay
(GDD)
 Global developmental delay (GDD) is a term often used
to describe young children whose limitations have not yet
resulted in a formal diagnosis of ID.

 GDD is a diagnosis given to children <5 yr of age who

display significant delay (>2 SD) in acquiring early
childhood developmental milestones in 2 or more domains
of development. These domains include receptive and
expressive language, gross and fine motor function,
cognition, social and personal development, and activities
of daily living.
 Etiology
 Numerous identified causes of ID may occur prenatally, during delivery,
postnatally, or later in childhood.

 These include infection, trauma, prematurity, hypoxia-ischemia, toxic

exposures, metabolic dysfunction, endocrine abnormalities, malnutrition, and
genetic abnormalities.

Mild ID (IQ 50-70) is associated more with
environmental influences, with the highest risk among children of low
socioeconomic status.

 Severe ID (IQ <50) is more frequently linked to biologic

and genetic causes.
 Etiology

Nongenetic risk factors that are often associated with mild ID include
low socioeconomic status, residence in a developing country, low
maternal
education, malnutrition, and poor access to healthcare.

 The most common biologic causes of mild ID include genetic or

chromosomal syndromes with multiple, major, or minor congenital
anomalies (e.g., velocardiofacial, Williams, and Noonan syndromes),
intrauterine growth restriction, prematurity, perinatal insults,
intrauterine exposure to drugs of abuse (including alcohol), and sex
chromosomal abnormalities. Familial clustering is common.
 Etiology

 In children with severe ID, a biologic cause (usually

prenatal) can be identified in about three fourths of all
cases. Causes include chromosomal (e.g., Down, Wolf-
Hirschhorn, and deletion 1p36 syndromes) and other
genetic and epigenetic disorders (e.g., fragile X, Rett,
Angelman, and Prader-Willi syndromes), abnormalities of
brain development (e.g., lissencephaly), and inborn errors
of metabolism or neurodegenerative
 Epidemology

 Globally, the prevalence of ID has been estimated to be

approximately 16.4 per 1,000 persons in low-income
countries, approximately 15.9/1,000 for middle-income
countries, and approximately 9.2/1,000 in high-income
countries.

 A meta-analysis of
worldwide studies from 1980–2009 yielded an overall
prevalence of 10.4/1000. ID occurs more in boys than in
girls, at 2 : 1 in mild ID and 1.5 : 1 in severe ID.
 Clinical Manifestation
 Most children with ID first come to the pediatrician’s attention in infancy because of
dysmorphisms, associated developmental disabilities, or failure to meet age-appropriate
developmental milestones

 There are no specific physical characteristics of ID, but dysmorphisms may be the earliest
signs that bring children to the attention of the
pediatrician. They might fall within a genetic syndrome such as Down syndrome or might be
isolated, as in microcephaly or failure to thrive.

 Most children with ID do not keep up with their peers' developmental skills.
In early infancy, failure to meet age-appropriate expectations can include a lack
of visual or auditory responsiveness, unusual muscle tone (hypo- or hypertonia)
or posture, and feeding difficulties.

 Between 6 and 18 mo of age, gross motor delay (lack of sitting, crawling, walking) is the most
common complaint. Language delay and behavior problems are common concerns after 18 mo
 Treatment
 Generally not treatable

 benefit from early identification.

 No medication has been found that improves the core symptoms of ID.
However, several agents are being tested in specific disorders with known
biologic mechanisms (e.g., mGluR5 inhibitors in fragile X syndrome, mTOR
inhibitors in tuberous sclerosis),

 Currently, medication is most useful in the treatment of

associated behavioral and psychiatric disorders.

 Psychopharmacology is generally directed at specific symptom complexes, including

ADHD (stimulant medication), self-injurious behavior and aggression
(antipsychotics), and anxiety, obsessive-compulsive disorder, and depression