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Article

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

1
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC 3084, Australia
2
Melbourne School of Psychological Sciences, The University of Melbourne, Parkville, VIC 3010, Australia
3
Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia
4
Barwon Health, Geelong, VIC 3220, Australia
5
Department of Psychology and Counselling, School of Psychology and Public Health, La Trobe University, Bundoora, VIC 3086, Australia
6
Bruce Lefroy Centre for Genetic Health Research, Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia
7
Department of Paediatrics, The University of Melbourne, Parkville, VIC 3010, Australia
8
Psychological Service, The Royal Children’s Hospital, Parkville, VIC 3052, Australia
9
Clinical Sciences Research, Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia
10
Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia
11
Department of Medical Biology, The University of Melbourne, Parkville, VIC 3010, Australia
12
The Florey Institute of Neuroscience and Mental Health, Parkville, VIC 3052, Australia
*
Author to whom correspondence should be addressed.
These authors contributed equally.
These authors contributed equally.
Int. J. Mol. Sci. 2020, 21(21), 7965; https://doi.org/10.3390/ijms21217965
Received: 21 September 2020 / Revised: 14 October 2020 / Accepted: 21 October 2020 / Published: 27 October 2020
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. View Full-Text
Keywords: Broader Autism Phenotype; genetic; autism spectrum disorder; multiplex family Broader Autism Phenotype; genetic; autism spectrum disorder; multiplex family
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MDPI and ACS Style

Trevis, K.J.; Brown, N.J.; Green, C.C.; Lockhart, P.J.; Desai, T.; Vick, T.; Anderson, V.; Pua, E.P.K.; Bahlo, M.; Delatycki, M.B.; Scheffer, I.E.; Wilson, S.J. Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype. Int. J. Mol. Sci. 2020, 21, 7965. https://doi.org/10.3390/ijms21217965

AMA Style

Trevis KJ, Brown NJ, Green CC, Lockhart PJ, Desai T, Vick T, Anderson V, Pua EPK, Bahlo M, Delatycki MB, Scheffer IE, Wilson SJ. Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype. International Journal of Molecular Sciences. 2020; 21(21):7965. https://doi.org/10.3390/ijms21217965

Chicago/Turabian Style

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. 2020. "Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype" Int. J. Mol. Sci. 21, no. 21: 7965. https://doi.org/10.3390/ijms21217965

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