Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome XYY and XXYY

摘要

ObjectiveNeurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, and XXYY) include many symptoms seen in autism spectrum disorder (ASD), such as speech-language impairment, verbal cognitive deficits, and social difficulties. Studies using standardized ASD assessment measures in SCA are few, and rates of ASD diagnosis in SCA using DSM-5 criteria for ASD have not been explored. We aimed to: (1) evaluate ASD characteristics in research cohorts of males with SCA using standardized assessments under DSM-IV compared to DSM-5 criteria, and (2) analyze whether type of SCA, prenatal vs. postnatal diagnosis, cognitive abilities, adaptive functioning, and socioeconomic status are associated with ASD diagnosis.