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Autism biomarker may enable early diagnosis

Measuring certain proteins in the blood may help physicians diagnose autism spectrum disorder earlier, according to findings published in the Journal of Neuroinflammation.

“While ASD appears to be on the rise ... current diagnostic methods and screening tools are somewhat subjective and are difficult to assess in younger children, which can often result in missed opportunities for early intervention,” Sarika Singh, PhD, from the department of psychiatry at the University of Texas Southwestern Medical Center, and colleagues wrote. “A biological marker that could predict ASD risk, assist in early diagnosis, or even identify potential therapeutic targets would have great clinical utility.”

Using the Myriad Rules-Based Medicine (RMB) platform, researchers screened serum samples from 30 boys with ASD and 30 typically developing boys aged 2 to 8 years for their primary analysis. In the subsequent analysis, they used the Meso Scale Discovery (MSD) platform to assess samples from 13 ASD and nine typically developing boys in the same age range. All participants underwent assessment by a psychologist. Singh and colleagues further subcharacterized participants with ASD into three groups: nonverbal, those with gastrointestinal issues and those with regressive autism.

Analysis revealed 11 proteins that together could accurately confirm ASD. Using both the RBM and MSD platform, the researchers further tested two of the 11 proteins that prior research has identified as potential biomarkers for ASD to validate their findings. By measuring the serum levels of these two proteins, thyroid-stimulating hormone (TSH) and interleukin-8 (IL-8), researchers could accurately detect ASD in roughly 75% of participants. Measuring the two proteins together increased the diagnostic accuracy to 82%. Compared with typically developing participants, boys with ASD had significantly lower TSH levels, but elevated IL-8 levels. Researchers found no significant correlation between TSH or IL-8 and any of the autism subgroups.

“These data suggest that information on hormone status and inflammation together provide greater diagnostic accuracy for the identification of ASD,” Singh and colleagues wrote. “The use of panels of blood proteins for disease identification and/or characterization appears to be a useful strategy, and one that we will pursue by (i) testing a larger set of ASD and [typically developing] samples on the MSD platform, (ii) looking at a total of four analytes previously identified in the RBM platform ... to determine whether four protein analytes combined will provide an accuracy of ~90% in predicting ASD in boys or an ASD phenotype in a subgroup, and (iii) investigating the levels of these analytes in blood samples from much younger children that then went on to develop ASD.” – by Savannah Demko

Disclosures: The researchers report no relevant financial disclosures.