Abstract

BackgroundAutism spectrum disorder (ASD) affects approximately 1 in 68 children in the USA. An ASD blood biomarker may enable early diagnosis and/or identification of new therapeutic targets. Serum samples from ASD and typically developing (TD) boys (n = 30/group) were screened for differences in 110 proteins using a multiplex immunoassay.ResultsEleven proteins were found that together could confirm ASD with modest accuracy using multiple training and test sets. Two of the 11 proteins identified here were further tested using a different detection platform and with a larger sample of ASD and TD boys. The two proteins, thyroid-stimulating hormone (TSH) and interleukin-8 (IL-8), have been previously identified as putative biomarkers for ASD. TSH levels were significantly lower in ASD boys, whereas IL-8 levels were significantly elevated. The diagnostic accuracy for ASD based upon TSH or IL-8 levels alone varied from 74 to 76%, but using both proteins together, the diagnostic accuracy increased to 82%. In addition, TSH levels were negatively correlated with the Autism Diagnostic Observation Schedule subdomain scores.ConclusionsThese data suggest that a panel of proteins may be useful as a putative blood biomarker for ASD.

Highlights

  • Autism spectrum disorder (ASD) affects approximately 1 in 68 children in the USA

  • thyroid-stimulating hormone (TSH) levels were significantly lower in ASD boys whereas IL-8 levels were significantly elevated compared to typically developing (TD) boys

  • The diagnostic accuracy for predicting ASD based upon the TSH or IL-8 levels alone varied from 74 to 76%, but using both proteins together, the diagnostic accuracy increased to 82%

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Summary

Introduction

Autism spectrum disorder (ASD) affects approximately 1 in 68 children in the USA. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication, social interaction, and restricted, repetitive patterns of behavior, interests, or activities [1]. ASD is the fastest growing developmental disability, affecting more children than cancer, diabetes, and AIDS combined. It affects 1 out of every 68 children in the USA, and it is more often found among boys than girls [2]. Many genes have been identified that are related to the disorder and even de novo mutations have been found to occur [3]. While ASD appears to be on the rise, it is

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