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Breakthrough in search for diagnostic test for autism spectrum disorders

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New tests that focus on damage to proteins in blood plasma could indicate autism in children, according to UK researchers, who say their breakthrough could lead to earlier diagnosis.

Academics from the University of Warwick believe that their new blood and urine tests, which search for damage to proteins, are the first of their kind.

“Our discovery could lead to earlier diagnosis and intervention”

Naila Rabbani

The tests could lead to earlier detection of autism spectrum disorders (ASD) and consequently children with autism could be given appropriate treatment much earlier in their lives, they said.

They noted that genetic causes had been found in 30-35% of ASD cases and the remaining 65-70% were thought to be caused by a combination of environmental factors, multiple mutations, and rare genetic variants.

But the researchers noted that, due to the wide spectrum of behavioural problems associated with ASD, diagnosis could be difficult and uncertain, particularly at the early stages of development.

For their study, published in Molecular Autism, the Warwick team worked with collaborators at the University of Bologna in Italy. They recruited 38 children diagnosed as having with ASD and a control group of 31 healthy children, aged between five and 12.

Blood and urine samples were taken from the children for analysis and the Warwick researchers then identified chemical differences between the two groups.

They 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.

“We may reveal specific plasma and urinary profiles or ‘fingerprints’ of compounds”

Naila Rabbani

Specifically, children with ASD were found to have higher levels of the blood plasma oxidation marker dityrosine and certain sugar-modified compounds called advanced glycation endproducts.

Working with researchers at the University of Birmingham, the changes in multiple compounds were combined together to develop a mathematical equation, or algorithm, to distinguish between ASD and healthy controls. The outcome was a diagnostic test better than any method currently available.

The next steps are to repeat the study with further groups of children to confirm the good diagnostic performance and to assess if the test can identify ASD at very early stages, indicate how the ASD is likely to develop further to more severe disease and assess if treatments are working.

Dr Naila Rabbani, a reader in experimental systems biology at Warwick who led the research, said: “Our discovery could lead to earlier diagnosis and intervention.

“We hope the tests will also reveal new causative factors,” she 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,” she added.

University of Warwick

Breakthrough in search for diagnostic test for autism

Changes found in protein damage and amino acids in ASD

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