Mental retardation.
Mental retardation (MR) occurs in 2-3% of the general population. Prevalence of milder MR is seven to ten times more than severe MR. Cause of severe MR can be determined in 60-70% of cases, as compared to mild MR where 35-55% remain idiopathic. The diagnostic process is aided considerably if the timing of a developmental insult can be determined: prenatal, periatal, postnatal (not mutually exclusive). History plays a pivotal role in approaching a diagnosis. After clinical evaluation one should be able to assess whether the disorder is static or progressive; approximate developmental quotient; possible timing of insult and possible underlying genetic etiology. Investigations should be based on history and physical examination. The important category of tests include: thyroid function tests, cytogenetic studies, metabolic work-up, fragile-X screening, radiological investigations, electrophysiological studies and specific tests according to the suspected diagnosis. Having an etiological explanation aids in the development of a specific treatment plan; helps families understand prognosis and recurrence risk and on the community level assists in the development of preventive strategies.
Kabra
Madhulika
M
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. madhulikakabra@hotmail.com
Gulati
Sheffali
S
D002648:Child; D004314:Down Syndrome / Q000150:complications; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology / Q000628:therapy; D010808:Physical Examination