Autism can be detected with new blood and urine tests, scientists claim

19 Feb 2018

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A team of scientists claims that its new physical tests can tell if a child has autism by detecting damaged proteins.

The World Health Organisation estimates that one in every 160 children falls into the autism spectrum disorder (ASD), a range of conditions characterised by some degree of impaired social behaviour, communication and language, and a narrow range of interests and activities that are both unique to the individual and carried out repetitively.

While our understanding of ASD has increased significantly over the past 50 years or so, it has proven difficult to accurately diagnose a young child as being on the spectrum because there are a wide range of symptoms.

But now, a team of international researchers led by the University of Warwick claims to have developed a series of tests that can accurately tell whether a child has ASD based on physical properties in the body.

In a paper published to the journal Molecular Autism, the team led by Dr Naila Rabbani detailed how ASD can be detected with a series of blood and urine tests that identify damaged proteins, believed to be key to the development of the disorder.

During its research, the team found a link between ASD and damage to proteins in blood plasma by oxidation and glycation – processes where reactive oxygen species and sugar molecules spontaneously modify proteins.

The most reliable of the tests found that children with ASD were found to have higher levels of the oxidation marker dityrosine and certain sugar-modified compounds called advanced glycation end products.

Could identify causes

Genetic causes have been found in 30-35pc of cases of ASD and the remaining 65-70pc of cases are thought to be caused by a combination of environmental factors, multiple mutations and rare genetic variants.

There is also a possibility, the team added, that the new tests could reveal causes of ASD that have yet to be identified.

Previously held beliefs that mutations of amino acid transporters are a genetic variant associated with ASD were also confirmed by the latest tests, which involved a total of 70 children, some who had been diagnosed with ASD and others without.

“Our discovery could lead to earlier diagnosis and intervention. We hope the tests will also reveal new causative factors,” Rabbani said.

“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.”

Colm Gorey was a senior journalist with Silicon Republic