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- Title
Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype.
- Authors
Trevis, Krysta J.; Brown, Natasha J.; Green, Cherie C.; Lockhart, Paul J.; Desai, Tarishi; Vick, Tanya; Anderson, Vicki; Pua, Emmanuel P. K.; Bahlo, Melanie; Delatycki, Martin B.; Scheffer, Ingrid E.; Wilson, Sarah J.
- 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.
- Subjects
AUTISM spectrum disorders; AUTISM; EXECUTIVE function; FAMILIES; STANDARDIZED tests
- Publication
International Journal of Molecular Sciences, 2020, Vol 21, Issue 21, p7965
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms21217965