Autism Symptoms Detected via Blood Test May Help Early Diagnosis

April is Autism Awareness Month and a recent study offers promise of earlier diagnosis in children, which leads to earlier treatment. For families and physicians, the diagnosis process of autism spectrum disorder can be lengthy, complicated and frustrating.

The recent clinical study launched by SynapDx, a lab services company, included 660 participating children at 20 clinical sites throughout the U.S. and Canada. Evaluations were conducted through SynapDx's blood-based test currently being developed for the early detection of Autism Spectrum Disorder (ASD) in children. Among the 20 sites in the study were Boston Children's Hospital, Mount Sinai Medical Center, Nationwide Children's Hospital, UC Davis MIND Institute and Vanderbilt University.

"We see hundreds of families each year who have struggled through the ASD referral and evaluation process. If a blood test could indicate ASD risk, it would help families and physicians know when to refer children to an ASD expert, potentially leading to earlier treatment and better outcomes," Jeremy Veenstra-VanderWeele, M.D., Vanderbilt University, said in a statement. 

Early diagnosis would mean early treatment that would produce better outcomes. Children tend to exhibit symptoms of ASD before they reach the age of 18 months. At present, the average age of diagnosis is past the age where behavioral therapy would be most beneficial.  

"Treatment for autism is most effective when the disorder is identified as early as possible, but it is often difficult for families and physicians to distinguish the early signs of ASD that should lead to a full evaluation," VanderWeele said.

The blood test works by measuring the amounts of Ribonucleic acid (RNA) which are determined by an individual's genes and environment. Functions such as brain development, speech and behavioral and social skills development are dictated by RNA.

Although ASD can't be detected by a specific gene, researchers discovered that different amounts of RNA sequences exist in children with autism.

"This study is the next crucial step in evaluating our test's potential to give clinicians and parents the answers they need to make appropriate treatment decisions — sooner — for children with ASD," the CEO of SynapDx said.

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