Parents of children with autism know that the diagnosis process can take a long time. You may think your child is on the spectrum, but often waitlists to even get an evaluation can take months or even a year, and it may be months after that before your child is able to start therapy. On top of that, the diagnosis isn’t always clear, and it can be muddled further by coexisting disorders. Parents often don’t get clear answers until their child is between ages two and four, even though autism can sometimes be detected much earlier.
For adults looking for a diagnosis, it’s a slightly different process but also difficult. You often need to go to your doctor and get a referral to a specialist who is familiar with diagnosing autism, like a psychologist or psychiatrist. Even then, you may have to convince your doctor how helpful a diagnosis would be to you, and you may be met with disbelief or dismissiveness instead of encouragement.
The hope is to eventually be able to develop a simple test that could indicate whether a person is on the spectrum or not. Now that hope is closer to being a reality. A new study shows that a biomarker panel could diagnose the disorder in a subset of people with ASD, and, in turn, allow for earlier intervention.
Published in the journal Biological Psychiatry and led by researchers at UC Davis MIND Institute and NeuroPointDX, part of Stemina Biomarker Discovery, the study is part of the largest metabolomic study of ASD done thus far, called the Children’s Autism Metabolome Project (CAMP).
The study was able to identify a grouping of metabolites in the blood that could detect autism, something that hasn’t been accomplished before.
So what are metabolomes? When large molecules break down, or metabolize, metabolomes are the molecules that remain. What’s unique and promising about using metabolomics to diagnose autism is that scientists can track not only genetic markers of the disorder, but environmental ones as well. They can study the way that increased levels of specific small molecules are linked to ASD, while also looking at how comorbid conditions, diet, and other environmental factors relate to autism.
For the study, blood samples were drawn from 1,100 children between the ages of 18 months and 4 years old. They were chosen from eight different centers across the US and had either autism, an intellectual disability, or were developing typically. About two-thirds of the study participants had ASD.
When comparing metabolites in blood among children with ASD and children developing typically, CAMP researchers found that 17 percent of the kids with autism had higher concentrations of a specific biomarker. This could be the first in a series of biomarker panels that could indicate autism.
“The long-term vision is, once we’ve been able to analyze all the data from CAMP, we would have a series of panels,” said David G. Amaral, one of the researchers. “Each of these would be able to detect a subset of kids with autism. Ultimately, metabolomics may be able to identify most children with autism.”
Identifying a condition through a biomarker panel has been successful before for phenylketonuria (PKU), which is a rare disease that’s unrelated to autism. However, PKU is caused by a build up of specific amino acids that cause brain damage, and it’s been shown that small changes to diet can have a huge impact.
“With just a simple dietary modification, a child can move from being profoundly disabled to one who lives a reasonably normal life,” said Amaral. “That’s the hope with autism as well.”
Researchers are realistic that this is just one test that could identify autism in some people; they have no starry-eyed vision that this will be the sole test, given the various ways the disorder presents itself.
But they do have confidence that this could eventually be part of a larger group of tests to help diagnose autism, and allow individuals access to targeted therapies earlier in life. The CAMP researchers plan to study these results further and also explore other metabolomes that could help identify additional groups of people with ASD.Whizzco