Whole Exome Sequencing Guides Pharmacotherapy for an Adolescent With Autism Spectrum Disorder and Psychosis

J Am Acad Child Adolesc Psychiatry. 2019 Mar;58(3):376-377. doi: 10.1016/j.jaac.2018.09.432.

Abstract

Genomic testing, including whole exome sequencing (WES), can result in specific changes to medical management. To illustrate the clinical utility of WES for complex neuropsychiatric disease, we report a male adolescent with autism spectrum disorder, psychosis, and regression and discuss how the WES findings guided his pharmacologic management.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Autism Spectrum Disorder / drug therapy*
  • Autism Spectrum Disorder / genetics*
  • DNA-Binding Proteins / genetics*
  • Disease Management
  • Exome
  • Exome Sequencing
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Psychotic Disorders / drug therapy*
  • Psychotic Disorders / genetics*
  • Transcription Factors / genetics*

Substances

  • DNA-Binding Proteins
  • Transcription Factors
  • HIVEP2 protein, human