fMRI Brain Scans Detect Autism's Trait Markers

An autism study using functional magnetic resonance imaging (fMRI) has identified a pattern of brain activity that may characterize the genetic susceptibility of developing autism spectrum disorder (ASD). The study could ultimately lead to earlier and more accurate autism diagnosis.

ASD is a strongly genetic, very prevalent disorder. 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 "biologic motion.”

The study's findings were published November 16, 2010, in the early edition of Proceedings of the [US] National Academy of Sciences (PNAS). Using fMRI scanning, researchers Drs. Martha Kaiser, Kevin Pelphrey, and colleagues from the Yale School of Medicine (New Haven, CT, USA; http://medicine.yale.edu) scanned the brains of children with autism and their unaffected siblings, as well as those of typically developing children as the three groups watched animations of biologic movement. The study included 62 children age 4 to 17.

The investigators identified three distinct neural signatures: 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; and compensatory activity--enhanced activity seen only in unaffected siblings. The increased brain activity may reflect a developmental process by which these children overcome a genetic predisposition to develop ASD.

"This study may contribute to a better understanding of the brain basis of ASD, and the genetic and molecular origin of the disorder,” concluded first author Dr. Kaiser, a postdoctoral associate in the Yale Child Study Center.

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