Autism in the genes, in the brain

YALE (US) — Children with autism and their unaffected siblings show distinct patterns of activity on brain scans, a new study shows.

These “neural signatures” may point to a genetic vulnerability to developing autism spectrum disorder (ASD). The findings, reported in the Proceedings of the National Academy of Sciences, could eventually lead to earlier and more accurate diagnosis.

“This study may contribute to a better understanding of the brain basis of ASD, and the genetic and molecular origin of the disorder,” says first author Martha Kaiser, a postdoctoral associate at Yale University.

ASD is defined by impaired social interaction and communication, and can disrupt the brain’s ability to interpret the movements of other people, known as “biological motion.” The disorder is a strongly genetic.

The Yale researchers identified three distinct patterns of activity using functional magnetic resonance imaging (fMRI):

  • Trait markers—brain regions with reduced activity in children with ASD and their unaffected siblings
  • State markers—brain areas with reduced activity found only in children with autism
  • Compensatory activity—enhanced activity seen only in unaffected siblings. The enhanced brain activity may reflect a developmental process by which these children overcome a genetic predisposition to develop ASD.

The study was supported by grants from the Simons Foundation, the National Institute of Mental Health, Autism Speaks, the John Merck Scholars Fund, and the Natural Sciences and Engineering Research Council of Canada.

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