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dc.contributor.authorTrevis, Krysta J-
dc.contributor.authorBrown, Natasha J-
dc.contributor.authorGreen, Cherie C-
dc.contributor.authorLockhart, Paul J-
dc.contributor.authorDesai, Tarishi-
dc.contributor.authorVick, Tanya-
dc.contributor.authorAnderson, Vicki-
dc.contributor.authorPua, Emmanuel P K-
dc.contributor.authorBahlo, Melanie-
dc.contributor.authorDelatycki, Martin B-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorWilson, Sarah J-
dc.identifier.citationInternational Journal of Molecular Sciences 2020; 21(21): 7965en
dc.description.abstractFamilies 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.en
dc.subjectBroader Autism Phenotypeen
dc.subjectautism spectrum disorderen
dc.subjectmultiplex familyen
dc.titleTracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype.en
dc.typeJournal Articleen
dc.identifier.journaltitleInternational Journal of Molecular Sciencesen
dc.identifier.affiliationDepartment of Psychology and Counselling, School of Psychology and Public Health, La Trobe University, Bundoora, VIC 3086, Australiaen
dc.identifier.affiliationBruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, VIC 3052, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, The University of Melbourne, Parkville, VIC 3010, Australiaen
dc.identifier.affiliationPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australiaen
dc.identifier.affiliationDepartment of Medical Biology, The University of Melbourne, Parkville, VIC 3010, Australiaen
dc.identifier.affiliationPsychological Service, The Royal Children's Hospital, Parkville, VIC 3052, Australiaen
dc.identifier.affiliationBarwon Health, Geelong, VIC 3220, Australiaen
dc.identifier.affiliationMedicine (University of Melbourne)en
dc.identifier.affiliationMelbourne School of Psychological Sciences, The University of Melbourne, Parkville, VIC 3010, Australiaen
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Health, Parkville, VIC 3052, Australiaen
dc.identifier.affiliationVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australiaen
dc.identifier.affiliationClinical Sciences Research, Murdoch Children's Research Institute, Parkville, VIC 3052, Australiaen
dc.identifier.pubmedid33120939, Martin B
item.fulltextNo Fulltext-
item.openairetypeJournal Article-
item.grantfulltextnone- Genetics- Research Centre-
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