How to Detect Autism: A Blood Test Could One Day Provide Early Diagnosis; Tests for the Risk of a Child Being Born with the Condition Are Elusive and Controversial

By Firger, Jessica | Newsweek, July 7, 2017 | Go to article overview

How to Detect Autism: A Blood Test Could One Day Provide Early Diagnosis; Tests for the Risk of a Child Being Born with the Condition Are Elusive and Controversial


Firger, Jessica, Newsweek


Byline: Jessica Firger

More than a decade ago, Judy Van de Water, a neuroimmunologist, decided to follow her instincts and research a condition she knew nothing about. Van de Water, now a lead scientist at the University of California Davis MIND Institute--an international research center for neurodevelopmental disorders--had spent her career studying the immune system. In 2000, she stumbled upon a compelling area of research: the immunobiology of autism.

Through studies on mice, rats and rhesus macaques and, eventually, retrospective and prospective analyses of children diagnosed with autism and their mothers, Van de Water identified eight autoantibodies made by a mother's immune system that appeared to be linked with autism risk if they crossed the placenta. Van de Water, who is also a researcher in the department of internal medicine at UC Davis, refers to her discovery as maternal autoantibody-related autism, or MAR autism. The concept is controversial and became more so when Van de Water developed a test to measure those biomarkers in a woman hoping to conceive, thereby predicting her risk for having a child who develops autism.

After Van de Water published a paper in 2013 that identified those autoantibodies, a company expressed interest in licensing a patent from UC Davis for the test, and in marketing it. Van de Water says the test wasn't ready then but that the blood-based test is now 99 percent accurate at identifying a constellation of immune markers that contribute to autism risk. She hopes to make it available to families in a few years. "It's not just one autoantibody that gives you [the condition]. We're still figuring out which is pathologic and which one is just a biomarker," she explains. "You have to have a combination of them."

What she has observed in her research is that kids whose mothers have the main two biomarker patterns have the most severe form of autism. "They're usually not verbal. They have more stereotypic behavior." They also tend to score higher on the Autism Treatment Evaluation Checklist (ATEC), an assessment tool administered to parents, teachers and caretakers to evaluate a child and determine the severity of his or her condition.

Many experts caution that predicting autism risk is not as tidy an endeavor as research like Van de Water's might lead the public to believe. The concept of early diagnostic testing is appealing to some parents, but critics argue that such testing would be unethical, and that early diagnostic testing would only increase the fear and stigma already surrounding the condition.

Should Van de Water's test enter the market, women could opt to have it before deciding to conceive. Regardless of her test results, choosing to move forward with a pregnancy would be a personal decision. The same test could also be used postnatally to evaluate a child with developmental delays.

The current prototype of Van de Water's test has already guided some family-planning decisions. A few years ago, a couple that enrolled in one of her studies chose to have a child through a surrogate after the woman tested positive for that pattern of high-risk biomarkers. The couple already had one child with autism, and the risk of having an offspring with autism is roughly 18 to 20 percent higher for parents in those circumstances. Through the surrogate, the couple went on to have a child who has not developed autism. Van de Water says this particular case shows that her test would provide some level of assurance when making difficult and life-changing decisions about starting a family.

Rates of autism continue to rise. The U.S. Centers for Disease Control and Prevention estimates that currently 1 in 68 children in the U.S. is diagnosed with autism. In 2008, approximately 1 in 88 received an autism diagnosis. That trend leaves many people wishing for a more exact way to assess a child's risk for autism, or at least provide early preparation for services a child with neurodevelopmental problems will need. …

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