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expert reaction to blood and urine biomarkers for autism

Researchers publishing in Molecular Autism investigate possible blood and urine biomarkers for autism.


Dr James Cusack, Director of Science, Autistica, said:

“There have been several attempts at developing biomarkers for autism, none of which have been particularly successful.  This attempt is weakened by a small sample size, possible overfitting of data and a lack of comparison groups.  This study does not tell us how effectively this measure can differentiate between autism and other neurodevelopmental or mental health conditions such as ADHD and anxiety.

“The design of the study itself is sufficiently robust as an exploratory experimental study, but the results cannot be used to propose a potential new diagnostic measure at this stage.”


Dr Max Davie, spokesperson for Royal College of Paediatrics and Child Health (RCPCH), said:

“This is a promising area however this is a very long way indeed from a ‘test for autism’.

“In order to add to existing diagnostic practice, a test would have to either predict later Autism Spectrum Disorders (ASD) at an early age, or improve upon existing clinical methods of assessment.

“In terms of early identification. The analysis was derived from children whose ages averaged 7-8, so there is no data to indicate that very young children will have the same metabolic pattern and that the results found would be reproducible in infants.

“In terms of supplementing and supplanting clinical assessment, it is not clear what this will add, given that the specificity and sensitivity are less than perfect- if a child clinically does not look autistic, then this test will not persuade anyone that they are, as things currently stand.

“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 is will produce large numbers of ‘false positives’, causing huge worry and potential harm to children and families.”


* ‘Advanced glycation endproducts, dityrosine and arginine transporter dysfunction in autism – a source of biomarkers for clinical diagnosis’ by Anwar et al. published in Molecular Autism on Monday 19th February.


Declared interests

Dr James Cusack: “No conflicts of interest”

Dr Max Davie: None received


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