Background: Over the past few decades, the rate of diagnosis for Autism Spectrum Disorder (ASD) has increased to about 1 in 88 children. While studies have shown that early diagnosis is linked to better cognitive outcomes in children with ASD, most children are not diagnosed until after they reach the age of 4, according to the Centers for Disease Control. This is due in part to limited diagnostic tools, such as traditional interviews and observation-based evaluations.

What’s New: On December 5, 2012, the online journal PLoS ONE published the largest study to date of blood biomarkers as a diagnostic target for ASD.  The researchers identified a set of 55 genes that were expressed differently in the blood of 66 autistic males when compared to 33 of their typically developing counterparts. They then ran a blood test seeking those same genes out in 104 children with ASD and 82 without the disorder. The test achieved an accurate diagnosis 70 percent of the time overall, predicting 73 percent of cases in male children and 51 percent of cases in female children.

Why it’s important: While a blood test may not replace traditional diagnostic evaluations for ASD, the authors speculate that their method could reduce the time spent determining whether a child has the disorder, allowing for earlier intervention. This study’s small sample size and inadequate accuracy rate, however, warrant the need for additional research.

Genetic Testing Diagnostic Tools for School-Age Children

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