Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

Krysta J. Trevis; Natasha J. Brown; Cherie C. Green; Paul J. Lockhart; Peter Hickey; Miriam Fanjul‐Fernández; Catherine J. Bromhead; Tarishi Desai; Tanya Vick; Greta Gillies; Hayley Mountford; Elizabeth Fitzpatrick; Lavinia Gordon; Peter Hewson; Vicki A. Anderson; Martin Bruce Delatycki; Ingrid Eileen Scheffer; Sarah J. Wilson

doi:10.3390/ijms21217965

NeuroscienceInternational Journal of Molecular SciencesOct 27, 2020

Peer-reviewed journal article

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

Krysta J. Trevis iD, Natasha J. Brown iD, Cherie C. Green iD, Paul J. Lockhart iD, Peter Hickey, Miriam Fanjul‐Fernández iD, Catherine J. Bromhead, Tarishi Desai iD, Tanya Vick, Greta Gillies, Hayley Mountford, Elizabeth Fitzpatrick, Lavinia Gordon iD, Peter Hewson, Vicki A. Anderson iD, Martin Bruce Delatycki iD, Ingrid Eileen Scheffer iD, Sarah J. Wilson iD

Abstract

Families comprising many individuals with Autism Spectrum Disorder (ASD) may carry a dominant predisposing mutation. Our aim was to use rigorous phenotyping of the Broader Autism Phenotype (BAP) in large multiplex ASD families to identify endophenotypes of the BAP for future genetic studies. We evaluated ASD/BAP features using standardised tests and a semi-structured interview to assess social, intellectual, executive and adaptive functioning in 109 individuals, including two large multiplex families (Family A: 30; Family B: 34) and an independent sample of small families (n=45). Our protocol identified four psychological endophenotypes of the BAP that were evident in both samples, and showed high sensitivity (97%) and specificity (82%) for individuals classified with the BAP. The patterns of inheritance of these endophenotypes varied in the two large families, supporting their utility for identifying genes in autism.

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