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Tracing autism traits in large multiplex families to identify endophenotypes of the broader autism phenotype
journal contributionposted on 07.12.2020, 05:23 by KJ Trevis, NJ Brown, Cherie GreenCherie Green, PJ Lockhart, T Desai, T Vick, V Anderson, EPK Pua, M Bahlo, MB Delatycki, IE Scheffer, SJ Wilson
© 2020 by the authors. Licensee MDPI, Basel, Switzerland. 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.
This project received financial support from the National Health and Medical Research Council of Australia (Grant Numbers: 490037, 566759, 1044175, 1098255), the Australian Research Council (Grant Number: FT100100764), the Jack Brockhoff Foundation, Pfizer Australia, the Percy Baxter Charitable Trust, Perpetual Trustees, the Murdoch Children's Research Institute, and The University of Melbourne. PJL is supported by an NHMRC Career Development Fellowship (GNT1032364). This work was made possible through Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS. The funding bodies played no role in the study design, or data collection, analysis or interpretation nor in writing of this manuscript.
JournalInternational Journal of Molecular Sciences
PublisherMultidisciplinary Digital Publishing Institute (MDPI)
Rights StatementThe Author reserves all moral rights over the deposited text and must be credited if any re-use occurs. Documents deposited in OPAL are the Open Access versions of outputs published elsewhere. Changes resulting from the publishing process may therefore not be reflected in this document. The final published version may be obtained via the publisher’s DOI. Please note that additional copyright and access restrictions may apply to the published version.
Science & TechnologyLife Sciences & BiomedicinePhysical SciencesBiochemistry & Molecular BiologyChemistry, MultidisciplinaryChemistryBroader Autism Phenotypegeneticautism spectrum disordermultiplex familySPECTRUM DISORDEREXECUTIVE DYSFUNCTIONCHILDRENPARENTSPREVALENCESIBLINGSNETWORKHISTORYREVEALBRAINChemical Physics