Source: NHGRI

Researchers believe that they have developed a blood test that can detect autism with 90% accuracy. The research was published today in Molecular Autism, and demonstrates that a clinical chemistry test could be used to diagnose autism spectrum disorder (ASD) in the future.

Autism spectrum disorders are neurological conditions that are governed by a variety of factors, both genetic and environmental. The complexity of the causal features and the variations by which the conditions can present themselves have meant that in the past, it was impossible for clinicians to use a biochemical test for diagnosis. As a result, many patients who were exhibiting related symptoms could go for years without receiving a firm diagnosis, delaying their access to treatments.

Now, researchers believe that they have identified ASD-linked biomarkers that could function as targets for a blood test. The team studied the blood and urine of 38 children diagnosed with ASD and 31 children who did not have the condition. Their results identified specific proteins in the blood plasma of the children with ASD that were linked to complex cellular process involved oxygen or glucose, while the children without ASD did not demonstrate the protein.

Using this data, the team developed four algorithms that were intended to predict whether a child had autism or not based on the presence or absence of the identified proteins. The most successful of these algorithms was found to be one that identified high levels of dityrosine, which is produced when proteins are oxidised by free radicals, and advanced glycation end products (AGE). With these parameters, the algorithm was found to predict that a child had ASD with 90% accuracy and that a child did not have ASD with 87% accuracy.

When speaking with Gizmodo, lead author and biologist at the University of Warwick, Naila Rabbani said, “Our test is expected to improve the accuracy of ASD diagnosis from 60–70 percent currently achieved by experts in neurological disorders to approximately 90 percent accuracy and potentially offered at all well-equipped hospitals with or without high level expertise in neurological disorders.”

Not only do these findings suggest a possible clinical blood test, the team believe that they may also shed light on some of the mechanisms behind the symptoms of ASD. The research revealed that the affected children also displayed increased risk of their neurons having reduced amino acids. This would appear to support previous research that hypothesised that ASD could be caused by a genetic mutation that impairs the body’s ability to transport amino acids.