Endophenotyping social cognition in the broader autism phenotype.

Autor: Pua EPK; Department of Medicine and Radiology, Austin Health, The University of Melbourne, Melbourne, Victoria, Australia., Desai T; Melbourne School of Psychological Sciences, The University of Melbourne, Melbourne, Victoria, Australia., Green C; Department of Psychology, Counselling & Therapy, School of Psychology and Public Health, La Trobe University, Melbourne, Victoria, Australia., Trevis K; Melbourne School of Psychological Sciences, The University of Melbourne, Melbourne, Victoria, Australia., Brown N; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia., Delatycki M; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Scheffer I; Department of Medicine and Radiology, Austin Health, The University of Melbourne, Melbourne, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.; The Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia., Wilson S; Department of Medicine and Radiology, Austin Health, The University of Melbourne, Melbourne, Victoria, Australia.; Melbourne School of Psychological Sciences, The University of Melbourne, Melbourne, Victoria, Australia.
Jazyk: angličtina
Zdroj: Autism research : official journal of the International Society for Autism Research [Autism Res] 2024 Jul; Vol. 17 (7), pp. 1365-1380. Date of Electronic Publication: 2023 Nov 30.
DOI: 10.1002/aur.3057
Abstrakt: Relatives of individuals with autism spectrum disorder (ASD) may display milder social traits of the broader autism phenotype (BAP) providing potential endophenotypic markers of genetic risk for ASD. We performed a case-control comparison to quantify social cognition and pragmatic language difficulties in the BAP (n = 25 cases; n = 33 controls) using the Faux Pas test (FPT) and the Goldman-Eisler Cartoon task. Using deep phenotyping we then examined patterns of inheritance of social cognition in two large multiplex families and the spectrum of performance in 32 additional families (159 members; n = 51 ASD, n = 87 BAP, n = 21 unaffected). BAP individuals showed significantly poorer FPT performance and reduced verbal fluency with the absence of a compression effect in social discourse compared to controls. In multiplex families, we observed reduced FPT performance in 89% of autistic family members, 63% of BAP relatives and 50% of unaffected relatives. Across all affected families, there was a graded spectrum of difficulties, with ASD individuals showing the most severe FPT difficulties, followed by the BAP and unaffected relatives compared to community controls. We conclude that relatives of probands show an inherited pattern of graded difficulties in social cognition with atypical faux pas detection in social discourse providing a novel candidate endophenotype for ASD.
(© 2023 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)
Databáze: MEDLINE
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