New Study Published in Nature Journal, Translational Psychiatry, Pinpoints a Specific Cause for Approximately One-Quarter of Autism Cases

Pediatric Biosciences developing diagnostic test based on findings
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Pediatric Biosciences, Inc. (PBI) today announced the publication of a new study showing that a significant percentage of women who have children diagnosed with autism have highly specific autoantibodies in their blood. These autoantibodies target and interfere with fetal brain proteins that play a major role in their child’s neurodevelopment in utero. The finding pinpoints a specific cause for about a quarter of all autism cases. PBI is developing a diagnostic test based on these findings that will provide physicians with a reliable set of biomarkers for pre-conception and earlier post-natal diagnosis of this Maternal Autoantibody-Related (MAR) form of autism.

The study was published online today in the Nature journal, Translational Psychiatry, and was led by immunologist Judy Van de Water, PhD, a faculty member in the Department of Internal Medicine and the UC Davis MIND Institute, a leading center for research and clinical services on autism and other neurodevelopmental disorders. Dr. Van de Water is also the Chief Scientific Advisor of PBI.    

“Based on these findings, PBI is developing a simple, quantitative blood test for MAR autism, which would be made available through physicians to the mothers of young children between the ages of 12 to 24 months who may be showing some signs of developmental delay,” said Jan D’Alvise, chief executive officer of PBI. “If the test is positive, the child would be an immediate candidate for early behavioral intervention, which studies show can dramatically improve outcomes and quality of life for the child.” 

The study was the largest to date, and analyzed blood samples from several hundred mothers of children with autism and control mothers of children without autism to examine the reactivity of their blood sample with the candidate proteins. Seven proteins were found to be significantly more reactive to the blood of mothers of children with autism than that of the control mothers. Nearly 23 percent of mothers of children with autism had one of the specific combinations of autoantibodies against the target proteins, compared with less than 1 percent of mothers of children without the disorder (p<0.0001). 

Earlier studies by Judy Van de Water and her colleagues found that not only were women with a certain specific combination of autoantibodies in their bloodstreams at a greater risk of having a child with autism, but their children typically exhibited more severe language delays, irritability, and self-injurious behaviors than did the autistic children of mothers whose blood did not contain these autoantibody biomarkers. 

“With the discovery of these biomarkers, we will be able to better determine the role of each protein in brain development,” Van de Water said. “We hope that in the near future, we can tell a mother more precisely what her autoantibody profile means for her child, then target interventions more effectively.” 

A MAR diagnostic test would also assess a woman’s risk of having a child with autism prior to conception. Women over the age of 30 are at twice the risk of having a child with autism and, together with women who have already had a child with autism, could benefit from taking this test before they become pregnant. A positive result would mean that they have a 99-percent likelihood of having a child with autism if they proceed with a pregnancy. 

“Women considering In Vitro Fertilization (IVF) would be a potential group to screen with the PBI autism test to assure themselves that they do not carry these maternal antibodies that have been associated with autism,” said Dr. Mary Lake Polan, adjunct professor at the Department of Obstetrics and Gynecology and Reproductive Sciences at Columbia University School of Medicine and a member of the PBI Scientific Advisory Board. “PBI’s clinical data also show that if a woman is positive for these autoantibodies, she might want to have her baby evaluated immediately by a specialist to be monitored for autism spectrum disorder (ASD) and be ready with early intervention.”