Tracing autism traits in large multiplex families to identify endophenotypes of the broader autism phenotype
- Author(s)
- Trevis, KJ; Brown, NJ; Green, CC; Lockhart, PJ; Desai, T; Vick, T; Anderson, V; Pua, EPK; Bahlo, M; Delatycki, MB; Scheffer, IE; Wilson, SJ;
- Details
- Publication Year 2020-10-27,Volume 21,Issue #21,Page E7965
- Journal Title
- International Journal of Molecular Sciences
- Publication Type
- Journal Article
- 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 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.
- Publisher
- MDPI
- Research Division(s)
- Population Health And Immunity
- PubMed ID
- 33120939
- Publisher's Version
- https://doi.org/10.3390/ijms21217965
- Open Access at Publisher's Site
https://doi.org/10.3390/ijms21217965- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2021-02-01 12:05:20
Last Modified: 2021-03-02 10:19:28