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Increased autism risk linked to Y chromosome, study finds

Increased risk for autism appears to be linked to the Y chromosome, a Geisinger Health System study has found, offering a new explanation for the greater prevalence of autism in males. The results are published in Nature Communications.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social interaction and communication, and restricted and repetitive patterns of behavior, interests and activities. ASD is nearly four times more prevalent among males than females, but the reason for this disparity is not well understood.

One common hypothesis involves the difference in sex chromosomes between males and females—typical females have two X chromosomes, while typical males have one X and one Y chromosome.

"A leading theory in the field is that protective factors of the X chromosome lower autism risk in females," said Matthew Oetjens, Ph.D., assistant professor at Geisinger's Autism & Developmental Medicine Institute.