[Genetic testing in autism spectrum disorder]

Ugeskr Laeger. 2022 Aug 22;184(34):V04220253.
[Article in Danish]

Abstract

Autism spectrum disorders (ASD) have a complex genetic component comprising both frequent polygenic and rare monogenic factors. Research is conducted in methods used to calculate polygenic risk scores, which are not applicable in clinical practice. Advances in genomic technology have identified several monogenic causes, and genetic testing may be offered to persons with ASD where a monogenic etiology is suspected. Herein, we provide an overview of the current knowledge and present the first national recommendation regarding genetic testing in ASD.

Publication types

  • Review

MeSH terms

  • Autism Spectrum Disorder* / diagnosis
  • Autism Spectrum Disorder* / genetics
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genomics
  • Humans