A new study reveals a potential new diagnostic tool that could allow doctors to identify whether a child is on the autism spectrum through a simple blood test. But can the mystery of autism be reduced to a few simple biomarkers or is the disorder much more complex?
Clarity in the diagnosis of children affected by Autism Spectrum Disorder (ASD) is a major challenge facing modern medical researchers. The fundamental causes of ASD still remain a mystery, but it is understood that early diagnosis can lead to more effective treatment and management as a child develops.
Finding an effective way to diagnose ASD has proved a tricky proposition for researchers. Generally, physicians rely on assessing a child's behavior patterns and social skills for a diagnosis and most children are not identified as autistic until after the age of four. The disorder is proving to be incredibly complex with a variety of different manifestations and probable causes.
Recent research has started to hone in on certain biological markers that could be used to enable early diagnosis, with several studies attempting to develop a more accurate, and objective, physiological medical test.
In 2015, scientists identified certain proteins that could be found in saliva and are often seen in elevated levels of people with autism. This led to a potentially quick and unintrusive saliva test to diagnose the disorder. Last year, another group of researchers attempted to refine an eye-tracking technique in the hopes of providing an early way to test and diagnose children.
Researchers at Rensselaer Polytechnic Institute have recently published research claiming to have developed the most comprehensive physiological diagnostic process for ASD to date. While prior research often focused on single metabolites or biomarkers, this new process measures 24 separate metabolites from a blood sample and, through a complex algorithm, can allegedly determine whether an individual is on the autism spectrum.
"Our contribution is using big data techniques that are able to look at a suite of metabolites that have been correlated with ASD and make statistically a much stronger case," explains lead author of the study, Juergen Hahn.
The initial results reported are certainly impressive. The sample group consisted of 83 participants with ASD and 76 age-matched neurotypical participants. The technique correctly identified 96.1 percent of the neurotypical participants and 97.6 percent of the ASD diagnosed participants.
"Because we did everything possible to make the model independent of the data, I am very optimistic we will be able to replicate our results with a different cohort," says Hahn. "This is the first physiological diagnostic and it's highly accurate and specific."
While the test results are ostensibly impressive, it is important to note that the specific metabolites and pathways examined by the research have not in any way been definitively connected to ASD in a specific way. There is also a notable concern that many other behavioral disorders could be related to these similar biomarkers, meaning the blood test has a great potential for misdiagnosing a general learning disability or even epilepsy.
The multifaceted nature of ASD has continually bamboozled researchers, and while this new research in isolation offers a fascinating correlation between the disorder and certain metabolic pathways, it's likely it will still be some time before a clear physiological diagnostic tool will be available for this mysterious disorder.
The team's research was published in the journal PLOS Computational Biology.
Source: Rensselaer Polytechnic Institute