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.