Genetisk udredning ved autismespektrumforstyrrelse

Janni Majgaard Jensen*, Ulla Schierup Nielsen, Allan Bayat, Malene Bøgehus Rasmussen, Rikke S. Møller, Anne Marie Bisgaard, Trine Bjørg Hammer

*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskriftReviewForskningpeer review

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.
Bidragets oversatte titel[Genetic testing in autism spectrum disorder]
OriginalsprogDansk
ArtikelnummerV04220253
TidsskriftUgeskrift for laeger
Vol/bind184
StatusUdgivet - 22 aug. 2022

Emneord

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

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