Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype
AuthorTrevis, KJ; Brown, NJ; Green, CC; Lockhart, PJ; Desai, T; Vick, T; Anderson, V; Pua, EPK; Bahlo, M; Delatycki, MB; ...
Source TitleInternational Journal of Molecular Sciences
University of Melbourne Author/sPua, Peng Kiat; Anderson, Vicki; Lockhart, Paul; Wilson, Sarah; Delatycki, Martin; Scheffer, Ingrid; Bahlo, Melanie; Desai, Tarishi; Brown, Natasha
AffiliationMedical Biology (W.E.H.I.)
Melbourne School of Psychological Sciences
Melbourne School of Population and Global Health
Melbourne Law School
Medicine (Austin & Northern Health)
Document TypeJournal Article
CitationsTrevis, K. J., Brown, N. J., Green, C. C., Lockhart, P. J., Desai, T., Vick, T., Anderson, V., Pua, E. P. K., Bahlo, M., Delatycki, M. B., Scheffer, I. E. & Wilson, S. J. (2020). Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 21 (21), https://doi.org/10.3390/ijms21217965.
Access StatusOpen Access
Open Access at PMChttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC7663259
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.
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Publisher licenceCC BY
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