Urine biomarker test for autism on the horizon?

It's Autism Awareness Month in April and so it is perhaps apt that this week in FierceBiomarkers we include a report of a potential urine-based biomarker test for this neurodevelopmental disorder. Autism spectrum disorder (ASD) is complex, and diagnosis can be difficult as its symptoms cover a wide range, can overlap with other disorders, and only emerge when children are age 2 or older.

Some studies have shown that children with autism spectrum disorder have increased levels of porphyrins in their urine, resulting with issues with its metabolism. In a collaboration between Battelle Centers for Public Health Research and Evaluation and the School of Public Health, the team of researchers looked at the levels of porphyrins in the urine of children with autism spectrum disorder to see if this could be used as a biomarker. The results showed that porphyrins levels could pick out up to a third of the children with autism, without selecting any of the "neurotypical" children.

"This is significant because it means children may be diagnosed with ASD at an earlier age and can thus receive treatment sooner. Early treatment can lead to a better quality of life for children with ASD," said Nicholas Heyer, senior health research scientist in epidemiology.

A urine test is less invasive than blood tests, and costs less than imaging. This test is at an early stage, and will only find those children with issues with porphyrin metabolism. However, it could be useful in combination with other tests and observations, perhaps to support a diagnosis of a child with suspected autism, or for screening children at high risk, for example those with parents or siblings with the disorder, picking out those who would benefit from further assessment, or treatment and support.

- read the press release
- see the paper in Autism Research