A hospital-based registry of children with intellectual disability

Approximately 2% of the Indian population experiences some degree of intellectual disability (ID). In terms of disability-adjusted life-years, ID accounts for 10.8% of the burden of mental disorders in India, ranking third after depressive disorders and anxiety disorders. It is crucial to diagnose modifiable causes of intellectual disability to enable prevention and early management. AIIMS Kalyani caters to a substantial number of children with intellectual disabilities and has established specialized services such as the Genetics Clinic, Autism Clinic, and a Molecular Diagnostic Laboratory. At least twenty new children visit these facilities every month. The research seeks to establish a hospital-based registry for these children to identify perinatal events and metabolic causes contributing to their condition. Syndromic etiologies will be ruled out through dysmorphology assessments and ancillary genetic testing, while hypoxic ischemic encephalopathy will be evaluated using MRI brain scans. Screening for inborn errors of metabolism (IEMs) will be conducted for other children using Tandem Mass Spectrometry.