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; Brown, Natasha; Green, Cherie
AffiliationMedicine and Radiology
Melbourne School of Psychological Sciences
Melbourne School of Population and Global Health
School of Mathematics and Statistics
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.
- Click on "Export Reference in RIS Format" and choose "open with... Endnote".
- Click on "Export Reference in RIS Format". Login to Refworks, go to References => Import References
Publisher licenceCC BY
- Minerva Elements Records 
- School of Mathematics and Statistics - Research Publications 
- Melbourne School of Population and Global Health - Research Publications 
- Paediatrics (RCH) - Research Publications 
- Melbourne School of Psychological Sciences - Research Publications 
- Medicine and Radiology - Research Publications