Genomics, Intellectual Disability, and Autism

Abstract

Chromosome microarrays and next-generation sequencing have revolutionized gene discovery in intellectual disability, autism, and other disorders. Chromosome microarray analysis, which is recommended as a first-line test in the genetic workup of children with intellectual disability, developmental delays, autism, or congenital anomalies, provides a molecular diagnosis in 15 to 20% of cases. Exome sequencing has proved to be successful in the research laboratory and is moving rapidly into the diagnostic laboratory. As the data continue to accumulate, our understanding of genes, pathways, and molecular mechanisms will continue to evolve and translate into better diagnosis, prognosis, and therapies for these severe disorders. Copyright © 2012 Massachusetts Medical Society.