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

2020-10-27

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

Broader Autism Phenotype

autism spectrum disorder

genetic

multiplex family

Journal Article

0000-0003-3572-1839

0000-0003-2531-8413

0000-0001-9519-2495

0000-0001-5132-0774

10.3390/ijms21217965

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.

link

International Journal of Molecular Sciences 2020; 21(21): 7965

International Journal of Molecular Sciences