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

KJ Trevis; NJ Brown; CC Green; PJ Lockhart; T Desai; T Vick; V Anderson; EPK Pua; M Bahlo; MB Delatycki; IE Scheffer; SJ Wilson

Journal article

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

KJ Trevis, NJ Brown, CC Green, PJ Lockhart, T Desai, T Vick, V Anderson, EPK Pua, M Bahlo, MB Delatycki, IE Scheffer, SJ Wilson

International Journal of Molecular Sciences | MDPI | Published : 2020

DOI: 10.3390/ijms21217965

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Abstract

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 endophenotype..

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University of Melbourne Researchers

Paul Lockhart Author

Vicki Anderson Author

Melanie Bahlo Author

Martin Delatycki Author

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Grants

Awarded by Percy Baxter Charitable Trust

Funding Acknowledgements

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.