The recent identification of blood-based genomic biomarkers associated with autism spectrum disorder (ASD) could lead to the development of a clinical test in males as young as one to two years of age. The results of this research have been published in JAMA Psychiatry.

In this proof-of-principle study of leukocyte RNA expression levels, blood samples were collected from 91 toddlers with ASD (ages one to four years of age) and a control group of 56 toddlers without ASD at the child’s initial clinical intake. The control group consisted of a mix of young boys with typical development mild language delay, transient language delay, and global developmental delay. Gene expression differences were seen between ASD and non-ASD in genes related to translation and immune/inflammation functions, cell adhesion, and cell cycle. The Illumina microarray identified an ASD genomic signature with 83% accuracy; an independent test with about half the sample and a different microarray had a 75% accuracy rate.

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The authors conclude that the clinical test could be conducted in community pediatric settings and that the test is more accurate than other behavioral and genetic screens for infants and toddlers with ASD as described in the literature. However, because the genetic and molecular bases on ASD may differ between males and females, the discovery of different signatures may be needed.

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