Jensen Janni Majgaard, Nielsen Ulla Schierup, Bayat Allan, Rasmussen Malene Bøgehus, Møller Rikke Steensbjerre, Bisgaard Anne Marie, Hammer Trine Bjørg
Klinisk Genetisk Afdeling, Aalborg Universitetshospital.
Ambulatorium for Børne- og Ungdomspsykiatri, Aalborg Universitetshospital.
Ugeskr Laeger. 2022 Aug 22;184(34).
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.
自闭症谱系障碍（ASD）具有复杂的遗传成分，包括常见的多基因因素和罕见的单基因因素。目前针对计算多基因风险评分的方法开展了研究，但这些方法并不适用于临床实践。基因组技术的进步已确定了多种单基因病因，对于疑似单基因病因的自闭症谱系障碍患者，可提供基因检测。在此，我们概述了当前的相关知识，并提出了关于自闭症谱系障碍基因检测的首项全国性建议。
