Genetics of Childhood-onset Schizophrenia 2019 Update

Child Adolesc Psychiatr Clin N Am. 2020 Jan;29(1):157-170. doi: 10.1016/j.chc.2019.08.007. Epub 2019 Oct 17.


The genetic architecture of schizophrenia is complex and highly polygenic. This article discusses key findings from genetic studies of childhood-onset schizophrenia (COS) and the more common adult-onset schizophrenia (AOS), including studies of familial aggregation and common, rare, and copy number variants. Extant literature suggests that COS is a rare variant of AOS involving greater familial aggregation of schizophrenia spectrum disorders and a potentially higher occurrence of pathogenic copy number variants. The direct utility of genetics to clinical practice for COS is currently limited; however, identifying common pathways through which risk genes affect brain function offers promise for novel interventions.

Keywords: Autism spectrum disorder; Childhood-onset schizophrenia; Common variants; Copy number variants; De novo mutations; GWAS; Genetics; Rare variants.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Age of Onset
  • Child
  • Genome-Wide Association Study*
  • Humans
  • Neurodevelopmental Disorders / epidemiology
  • Neurodevelopmental Disorders / genetics*
  • Schizophrenia / epidemiology
  • Schizophrenia / genetics*