TY - JOUR
T1 - Genetisk udredning ved autismespektrumforstyrrelse
AU - Jensen, Janni Majgaard
AU - Nielsen, Ulla Schierup
AU - Bayat, Allan
AU - Rasmussen, Malene Bøgehus
AU - Møller, Rikke Steensbjerre
AU - Bisgaard, Anne Marie
AU - Hammer, Trine Bjørg
N1 - Trykt udgave: Ugeskr Laeger. 2023; 185(1):43-46.
PY - 2022/8/22
Y1 - 2022/8/22
N2 - 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.
AB - 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.
KW - Autism Spectrum Disorder/diagnosis
KW - Genetic Predisposition to Disease
KW - Genetic Testing
KW - Genomics
KW - Humans
M3 - Tidsskriftartikel
C2 - 36065862
SN - 0041-5782
VL - 184
JO - Ugeskrift for laeger
JF - Ugeskrift for laeger
M1 - V04220253
ER -