Background: Today, doctors diagnose Autism Spectrum Disorder (ASD) using behavioral evaluation, limiting how early in development a doctor can detect signs of autism. For this reason, researchers are looking for autism biomarkers, measurable features that are predictive of the disorder. One line of research investigates how much genes are turned on or off in the body. Called a “gene expression profile,” this particular measurement could distinguish children with ASD.

What’s new: Using DNA chip technology, researchers at Boston Children’s Hospital and Harvard Medical Center analyzed gene expression profiles in the blood cells of 20 pairs of siblings, in which only one sibling had ASD, and 18 unrelated control individuals. According to their study, 189 genes differed in expression between the affected and unaffected siblings. Surprisingly, a small group of the unaffected siblings had gene expression profiles that more closely matched the unrelated individuals than their own sibling. The genes that differed in expression are known to play a role in cell maintenance, energy production, neural signaling, immune response, and calcium signaling pathways.

Why it’s important: This study supports the idea that gene expression profiles  may help predict if a child will develop autism. This has implications for early diagnosis, or at the very least, the identification of children that may need closer monitoring of developmental progress. Additional studies with larger sample sizes are needed to verify the study’s findings.

Genetic Testing

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