Journal article

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

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

Published : 2019


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 s..

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