Researchers Have Made a Crucial ‘First Step’ in Developing a Blood Test for Early Autism Detection

For the first time, researchers have successfully used bodily fluids like blood and urine to predict whether a child might display autism-related behaviors later in life.

Autism is notoriously difficult to diagnose because, while the developmental disorder has broad characteristics like a-typical social interaction, it expresses itself differently in every child. Additionally, autism may not be apparent until later on in a child’s life. There’s currently no reliable method to give a diagnosis before the age of two years, and diagnosing young children remains an issue.

This reality proves challenging because early intervention can help to blunt some of the isolating effects of autism spectrum behavioral characteristics, ensuring that children on the spectrum get the best education and social help that is right for them.

Now, scientists believe they’ve identified an accurate but unobtrusive means for early autism detection.

What proteins can tell us

Researchers at the University of Warwick, aimed to examine the biochemistry of a child’s blood to see if they could spot any major differences between children with autism and children with neurotypical behaviors. This approach has yielded some interesting results when looking for biological markers for conditions like schizophrenia so, while autism is obviously very different, this avenue of research is promising.

When the scientists compared the blood and urine of 38 children diagnosed with autism and 31 children without the condition, they found a markedly higher level of protein damage, particularly in the blood plasma. They also identified two indicators of Autism Spectrum Disorder: oxidation marker dityrosine (DT) and advanced glycation end products (AGEs).

Previous research has suggested that changes to amino acid transporters may be at least partly responsible for some cases of autism, and this study, published this month in the journal “Molecular Autism,” appears to support these findings,

Armed with these facts, the researchers then used algorithm technologies to create a diagnostic test that would balance the presence of these markers in a sample against relevant controls.

More tests are needed

As with any research, additional studies must be carried out. The next step is to repeat this research with larger groups of children and to confirm the diagnostic potential the researchers observed in this first trial.

Researcher Dr. Naila Rabbani tells the BBC that she would like to go forward with this trial, testing much younger children:

We have the method, we have everything. All we need to do is repeat it. I would really like to go forward with younger children, maybe two years, or even one year old. Then the next step will be to validate in a larger cohort. Then the tests will be ready for screening.

Other researchers have characterized the study as interesting, but also cautioned against getting too excited. James Cusack, director of science at the UK’s Austistica Autism research charity, explained:

This [study] 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.

It’s also worth pointing out that only some autism cases appear to have genetic causes, and the rest are likely a result of environmental factors. Therefore, diagnostic tests for autism will have to come in several different forms in order to have the best chance of detecting ASD early on in life.

Despite its potential benefits, this type of testing has the potential to produce a high number of false positives. Certainly, even if its effectiveness does hold up when tested on larger samples, the diagnostic test should only be one tool among several that doctors use to get a clearer picture of a child’s development.

While there are plenty of reasons to remain cautious about this new test, it offers the tantalizing possibility of an early diagnostic tool that could help support parents and give them a way forward as they seek to understand their child’s needs and provide them with the best care.

Photo credit: Thinkstock.


Marie W
Marie W10 months ago

Thank you for caring and sharing

Angela J
Angela Jabout a year ago


Jetana A
Jetana Aabout a year ago

I'm concerned that some kids who would not have developed autism will be stigmatized.

Amanda McConnell
Amanda McConnellabout a year ago

Thanks for sharing

Amanda McConnell
Amanda McConnellabout a year ago

Thanks for sharing

Joan E
Joan Eabout a year ago

Interesting and very encouraging.

Janis K
Janis Kabout a year ago

Thanks for sharing.

Winn A
Winn Aabout a year ago


Linda D
Linda Dabout a year ago

Don't see how this is going to help anyone, putting kids under labels so young, and they may be wrongly diagnosed so easily. Better to spend the money on finding out why there is an dramatic increase in autism spectrum and preventing. Maybe something to do with all the chemicals in the world including toxic ones in vaccines.

Danii P
Past Member about a year ago

thank you