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Blood/urine tests could identify autism in children

Test could lead to earlier diagnosis of the condition

Adrian O'Dowd

Monday, 19 February 2018

New tests that might indicate autism in children have been developed by researchers at the University of Warwick according to a study* published today in the journal Molecular Autism.

The researchers who carried out the international research believe their new blood and urine tests, which search for damage to proteins, are the first of their kind and could lead to earlier detection of autism spectrum disorders (ASD), allowing children with autism to receive appropriate treatment earlier in their lives.

Around one in 100 people are autistic, but many adults have never been diagnosed.

Biological tests for ASD are currently unavailable so the researchers set out to explore diagnostic testing to see if clinical diagnosis of ASD was feasible.

The team is based at the university’s Warwick Medical School involved academics at the university’s Warwick Systems Biology group, the University of Birmingham, the University of Bologna in Italy, the Institute of Neurological Sciences, Bologna, and the Don Carlo Gnocchi Foundation ONLUS in Milan.

The researchers recruited 38 children who were diagnosed as having ASD (29 boys and nine girls) and a control group of 31 healthy children (23 boys and eight girls) between the ages of five and 12. Blood and urine samples were taken from the children for analysis.

From the various tests they tried, the most reliable was examining protein in blood plasma.

Results showed that children with autism had higher levels of protein damage - particularly in the blood plasma. The autistic children had higher levels of the oxidation marker dityrosine (DT) and certain sugar-modified compounds called advanced glycation end-products (AGEs).

Dr Naila Rabbani, reader of experimental systems biology at the University of Warwick who led the team, said: “Our discovery could lead to earlier diagnosis and intervention. 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.”

Caution over the usefulness of the test was voiced by autism charity Autistica. Its director of science Dr James Cusack said: “This is a small experimental study. It suggests why autistic people may be biologically different but cannot be used to diagnose autism.

“We don’t know if the test can tell the difference between autism, ADHD, anxiety or other similar conditions. Still, the best way to diagnose autism is through clinical interview or observation.”

Dr Max Davie, assistant officer for health promotion at the Royal College of Paediatrics and Child Health, said: “This is a promising area, however this is a very long way indeed from a 'test for autism'.

“While we applaud the arrival of this interesting area of research, it is important that it is not adopted with too much enthusiasm. If applied to a large population, it will produce large numbers of 'false positives', causing huge worry and potential harm to children and families.”


*Rabbani, N, et al. Advanced glycation endproducts, dityrosine, and arginine transporter dysfunction in autism—a source of biomarkers for clinical diagnosis. Molecular Autism. DOI:10.1186/s13229-017-0183-3.

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