Deciphering Intellectual Disability

Indian J Pediatr. 2023 Feb;90(2):160-167. doi: 10.1007/s12098-022-04345-3. Epub 2022 Nov 28.


Intellectual disability (ID) is a common cause of referral to the pediatricians, geneticists, and pediatric neurologists. A thorough clinical evaluation and a stepwise investigative approach using a combination of traditional genetic techniques and appropriate latest genomic technologies can help in arriving at a diagnosis. In the current "omics" era, adopting a multiomics approach would further assist in solving the undiagnosed cases with intellectual disability.

Keywords: Diagnostic yield; Exome sequencing; Genome sequencing; Global developmental delay; Intellectual disability.

Publication types

  • Review

MeSH terms

  • Child
  • Exome
  • Genomics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / genetics