Following children during development may also help reveal how autism emerges in the brain. Sahin is exploring this question in children with TSC, a condition marked by benign tumors throughout the brain and body.

Roughly 50% of children with TSC develop a characteristic form of autism, said Sahin. Studies suggest that brain patterns in children who have both TSC and autism are more typical of children with autism alone than they are of children with TSC alone.

Sahin and his colleagues are scanning the brains of 120 children with TSC from infancy to 3 years of age, when they can be reliably assessed for autism. It may be that disparate ways of arriving at autism lead to a similar set of changes in the brain, Sahin said.

This study, along with many others, aims to uncover a biological indicator of autism. The researchers hope to pin the condition down with more than just the behavioral assessments currently used.

“We’re defining autism as impairments in social communication interactions or repetitive behaviors that someone deems to be problematic,” said Bernier. “It’s so tricky, because when you define things behaviorally like that, it makes it difficult to say what something really is.”

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A version of this article originally appeared on Spectrum.

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Primary Source
Lancet Psychiatry
Source Reference: Richards C, et al “Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis” Lancet Psychiatry 2015; DOI:10.1016/S2215-0366(15)00376-4.