Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/34424
Title: Endophenotyping social cognition in the broader autism phenotype.
Austin Authors: Pua, Emmanuel Peng Kiat;Desai, Tarishi;Green, Cherie;Trevis, Krysta;Brown, Natasha;Delatycki, Martin B ;Scheffer, Ingrid E ;Wilson, Sarah
Affiliation: Medicine (University of Melbourne)
Melbourne School of Psychological Sciences, The University of Melbourne, Melbourne, Victoria, Australia.
Department of Psychology, Counselling & Therapy, School of Psychology and Public Health, La Trobe University, Melbourne, Victoria, Australia.
Melbourne School of Psychological Sciences, The University of Melbourne, Melbourne, Victoria, Australia.
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.
Radiology
Melbourne School of Psychological Sciences, The University of Melbourne, Melbourne, Victoria, Australia.
Issue Date: 30-Nov-2023
Date: 2023
Publication information: Autism Research : Official Journal of the International Society for Autism Research 2023-11-30
Abstract: 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.
URI: https://ahro.austin.org.au/austinjspui/handle/1/34424
DOI: 10.1002/aur.3057
ORCID: 0000-0001-9519-2495
0009-0007-5648-6790
0000-0002-3160-2106
0000-0003-3572-1839
0000-0002-1822-9191
0000-0002-2311-2174
0000-0002-2678-1576
Journal: Autism Research : Official Journal of the International Society for Autism Research
PubMed URL: 38037242
ISSN: 1939-3806
Type: Journal Article
Subjects: autism spectrum disorder
behavioral genetics
broader autism phenotype
language pragmatics
social cognition
Appears in Collections:Journal articles

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