First-of-Its-Kind Biomarker Analysis May Improve Autism Spectrum Disorder Diagnosis

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Blood and urine analyses showed chemical differences between participants with autism spectrum disorder and controls.
Blood and urine analyses showed chemical differences between participants with autism spectrum disorder and controls.

A first-of-it-kind test that could potentially improve the diagnosis of autism spectrum disorder (ASD) in children has been developed by researchers from the University of Warwick. The scientific paper has been published in the journal Molecular Autism.

To explore the diagnostic utility of this test, researchers enrolled 38 children diagnosed with ASD and matched 31 healthy children between the ages of 5 and 12; plasma protein glycation, oxidation, and nitration adducts and amino acid metabolome in plasma and urine were examined. "Impairment of protein homeostasis leading to proteotoxic stress and activation of the unfolded protein response has been implicated in ASD," the authors noted. 

An analysis of blood and urine samples showed chemical differences between the 2 study groups with the ASD group exhibiting higher levels of dityrosine (DT), an oxidation marker, and advanced glycation endproducts (AGEs). Using a machine learning approach, the researchers developed diagnostic algorithms to differentiate between children with ASD and healthy children.

"We hope the tests will also reveal new causative factors. With further testing we may reveal specific plasma and urinary profiles or 'fingerprints' of compounds with damaging modifications. This may help us improve the diagnosis of ASD and point the way to new causes of ASD," said lead investigator, Naila Rabbani, PhD.

The researchers plan to duplicate the study with more children to confirm diagnostic performance and to assess whether ASD can be detected at very early stages, how likely it is to progress to more severe disease, and if treatments are effective.

Reference

Anwar A, Abruzzo PM, Pasha S. Advanced glycation endproducts, dityrosine and arginine transporter dysfunction in autism — a source of biomarkers for clinical diagnosis [published online February 19, 2018]. Molecular Autism. doi:10.1186/s13299-017-0183-3

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