Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics

Intellectual Disabilities

Author(s): Zafar Ali*, Uzma Abdullah and Ambrin Fatima

Pp: 269-282 (14)

DOI: 10.2174/9789815079517122010019

* (Excluding Mailing and Handling)


Intellectual disability (ID) is caused by the disruption of neurodevelopmental processes. Its diagnosis and severity are defined in terms of an Intelligence Quotient score of <70. ID has diverse presentations and clinical overlaps with other cognitive disorders such as autism spectrum disorder and microcephaly. ID has a diverse etiology encompassing both environmental and genetic insults to the developing brain. The precise diagnosis is challenging but crucial for prognosis and risk assessment for future pregnancies. The suspected cases of genetic ID often follow a strategic series of tests for diagnosis. There is no effective cure for this disorder except in the cases of early diagnosed metabolic disorders. The available therapies are mostly aimed at easing the symptoms and improving the quality of life.

Keywords: Autism spectrum disorder, Genetic diagnosis, Global developmental delay, Intelligence Quotient, Microcephaly, Neurodevelopment, Supportive therapy.

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