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Tracing autism traits in large multiplex families to identify endophenotypes of the broader autism phenotype

journal contribution
posted on 2020-12-07, 05:23 authored by KJ Trevis, NJ Brown, Cherie GreenCherie Green, PJ Lockhart, T Desai, T Vick, V Anderson, EPK Pua, M Bahlo, MB Delatycki, IE Scheffer, SJ Wilson
© 2020 by the authors. Licensee MDPI, Basel, Switzerland. Families comprising many individuals with Autism Spectrum Disorders (ASD) may carry a dominant predisposing mutation. We implemented rigorous phenotyping of the "Broader Autism Phenotype" (BAP) in large multiplex ASD families using a novel endophenotype approach for the identification and characterisation of distinct BAP endophenotypes. We evaluated ASD/BAP features using standardised tests and a semi-structured interview to assess social, intellectual, executive and adaptive functioning in 110 individuals, including two large multiplex families (Family A: 30; Family B: 35) and an independent sample of small families (n = 45). Our protocol identified four distinct psychological endophenotypes of the BAP that were evident across these independent samples, and showed high sensitivity (97%) and specificity (82%) for individuals classified with the BAP. Patterns of inheritance of identified endophenotypes varied between the two large multiplex families, supporting their utility for identifying genes in ASD.


This project received financial support from the National Health and Medical Research Council of Australia (Grant Numbers: 490037, 566759, 1044175, 1098255), the Australian Research Council (Grant Number: FT100100764), the Jack Brockhoff Foundation, Pfizer Australia, the Percy Baxter Charitable Trust, Perpetual Trustees, the Murdoch Children's Research Institute, and The University of Melbourne. PJL is supported by an NHMRC Career Development Fellowship (GNT1032364). This work was made possible through Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS. The funding bodies played no role in the study design, or data collection, analysis or interpretation nor in writing of this manuscript.


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International Journal of Molecular Sciences





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Multidisciplinary Digital Publishing Institute (MDPI)



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