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There are a burgeoning number of genetic and neuroimaging studies of autism spectrum disorders (ASD), but no clinically useful peripheral blood test. To address this need, investigators (2 with related patents pending) sought to identify differentially expressed genes from leukocyte RNA expression arrays in 87 boys with ASD, 14 with developmental disorders (DD), and 41 typically developing toddlers. Blood draws occurred at ages 1 to 4 years; ASD was diagnosed by age 3 years.
Differentially expressed genes were grouped into four modules that best predicted ASD. Of 45 cortex-specific genes, 62% were upregulated and were related to immune, cell-cycling, and translational functions. The array showed specificity of 80% and sensitivity of 82% for …