Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype
| Autor: | Paul J. Lockhart, Cherie C Green, Krysta J Trevis, Tarishi Desai, Martin B. Delatycki, Natasha J Brown, Sarah J. Wilson, Emmanuel Peng Kiat Pua, Melanie Bahlo, Ingrid E. Scheffer, Vicki Anderson, Tanya Vick |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Adolescent Endophenotypes autism spectrum disorder behavioral disciplines and activities Article Catalysis lcsh:Chemistry Inorganic Chemistry Young Adult 03 medical and health sciences 0302 clinical medicine mental disorders medicine Humans Predisposing mutation Family Multiplex Spectrum disorder multiplex family Physical and Theoretical Chemistry Child lcsh:QH301-705.5 Molecular Biology Spectroscopy Aged Genetics Organic Chemistry General Medicine Middle Aged medicine.disease Phenotype Pedigree Computer Science Applications Early Diagnosis 030104 developmental biology lcsh:Biology (General) lcsh:QD1-999 Autism spectrum disorder Child Preschool Endophenotype Autism Female genetic Broader Autism Phenotype 030217 neurology & neurosurgery Executive dysfunction |
| Zdroj: | International Journal of Molecular Sciences Volume 21 Issue 21 International Journal of Molecular Sciences, Vol 21, Iss 7965, p 7965 (2020) |
| ISSN: | 1422-0067 |
| DOI: | 10.3390/ijms21217965 |
| Popis: | Families comprising many individuals with Autism Spectrum Disorders (ASD) may carry a dominant predisposing mutation. We implemented rigorous phenotyping of the &ldquo Broader Autism Phenotype&rdquo (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. |
| Databáze: | OpenAIRE |
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