Metabolic biomarkers used to accurately diagnose autism

US scientists have developed a highly accurate method that analyses metabolic biomarkers to assess whether a child is on the autism spectrum. Their work has been published in the journal PLOS Computational Biology.

Autism spectrum disorder affects about 1.5% of all children, but its exact cause remains unknown, and diagnosis requires a multidisciplinary team of doctors. Previous research has revealed certain differences in metabolic processes between children on the autism spectrum and neurotypical children; however, researchers have struggled to translate these differences into diagnostic tools.

Now, Juergen Hahn and Daniel Howsmon of New York’s Rensselaer Polytechnic Institute have presented a method to identify a child as being on the autism spectrum based on concentrations of specific substances found in a blood sample. The substances in question are produced by metabolic processes known as the folate-dependent one-carbon (FOCM) metabolism and transulfuration (TS) pathways, both of which are altered in children with autism.

The scientists’ study used blood sample data collected at Arkansas Children’s Hospital from 83 children with autism and 76 neurotypical children, all between three and 10 years old. With the help of advanced modelling and statistical analysis tools, this data allowed the researchers to correctly classify 97.6% of the children with autism and 96.1% of the neurotypical children.

“The method presented in this work is the only one of its kind that can classify an individual as being on the autism spectrum or as being neurotypical,” said Hahn. “We are not aware of any other method using any type of biomarker that can do this, much less with the degree of accuracy that we see in our work.”

Hahn and his team are hoping to study whether treatments could be used to alter the concentrations of FOCM and TS products and, if so, whether this could impact symptoms of autism spectrum disorder. They additionally noted that further research is needed to confirm their findings.

Image caption: The autism awareness ribbon, which symbolises the diverse experiences of people and families living with autism spectrum disorder, here represents the various genetic and environmental effects on the pathophysiology of autism spectrum disorder. The white pieces represent currently unknown effects; however, the piece illustrating folate-dependent one-carbon metabolism and transsulfuration contributes important information to our knowledge of autism spectrum disorder. Image credit: Daniel P Howsmon.