• Jamshed Khan KIMS


Intellectual Disability (ID) is a neuro-developmental disorder that results in incom-plete or (arrested) expansion of a brain. Depending upon the severity of the disease, ID could be moderate ID, severe ID, and most severe called profound ID. ID affects about two to three percent of overall population. It has been estimated that half of all cases with are due to environmental factors and the other half are due to genetic factors. ID cases may have intellectual disability only without other asso-ciated abnormalities, a condition called as Non-syndromic Intellectual Disability (NSID) or with other associated abnormalities, a condition called as Syndromic In-tellectual disability (SID). Autosomal recessive disorders are common in isolated populations, because of high rate of consanguinity. Recessive genetic disorders are common in Pakistan where consanguineous marriages are frequently ar-ranged because the cast system is deeply rooted. Understanding of molecular and genetic causes may allow for the decision making to prevent ID. Mutation screening of these genes is required which will lead to development of prena-tal diagnostic tests in Pakistan.


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