Article Title: Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY
Authors: Nicole R Tartaglia, MD, Rebecca Wilson, PsyD, Judith S. Miller, PhD, Jessica Rafalko, Lisa Cordeiro, MS, Shanlee Davis, MD, David Hessl, PhD, and Judith Ross, MD
Date of Publication: April 2017
“The rate of ASD in children with SCA in this study was higher than expected compared to the general population. Males with Y chromosome aneuploidy (XYY and XXYY) were 4.8 times more likely to have a diagnosis of ASD than the XXY/KS group, and 20 times more likely than males in the general population based on the 2010 Centers for Disease Control (CDC) estimate of 1 in 42 males. ASD is an important consideration when evaluating social difficulties for children with SCA. Studies of males with SCA and Y-chromosome genes may provide insight into idiopathic ASD and male predominance in ASD.”