La Trobe

Endophenotyping social cognition in the broader autism phenotype

Download (1.26 MB)
journal contribution
posted on 2024-07-29, 02:00 authored by Emmanuel Peng Kiat Pua, Tarishi Desai, Cherie GreenCherie Green, Krysta Trevis, Natasha Brown, Martin Delatycki, Ingrid Scheffer, Sarah Wilson

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.

Funding

Jack Brockhoff Foundation; National Health and Medical Research Council of Australia, Grant/Award Numbers: 490037, 566759, 1044175, 1098255; Pfizer Australia

History

Publication Date

2024-07-01

Journal

Autism Research

Volume

17

Issue

7

Pagination

16p. (p. 1365-1380)

Publisher

Wiley

ISSN

1939-3792

Rights Statement

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. © 2023 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.