Article
Autistic traits in youth with familial adenomatous polyposis: A Dutch-Canadian case-control study.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Dec 2024
Danieli Polina Perlman, Hoang Ny, Selvanayagam Thanuja, Yang Alvin, Breetvelt Elemi, Tabbers Merit, Cohen Christine, Aelvoet Arthur S, Trost Brett, Ward Thomas, Semotiuk Kara, Durno Carol, Aronson Melyssa, Cohen Zane, Dekker Evelien, Vorstman Jacob
Abstract excerpt
This study investigated the neurodevelopmental impact of pathogenic adenomatous polyposis coli (APC) gene variants in patients with familial adenomatous polyposis (FAP), a cancer predisposition syndrome. We hypothesized that certain pathogenic APC variants result in behavioral-cognitive challenges. We compared 66 FAP patients (cases) and 34 unaffected siblings (controls) to explore associations between APC...
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