Could A Blood Test Diagnose Autism Before Symptoms Start to Show?
![A child thinking.](https://d.medicaldaily.com/en/full/227170/child-thinking.jpg?w=407&f=d4a90d2b55f5e8d38ed5e6887697d8b3)
Developmental disorders are always harder to recognize early on then health problems that have a clearer, physical manifestation. What could be at first mistaken for "kids being kids" or just a shy little child could turn out to be a challenging, lifelong condition.
Autism, or autism spectrum disorder (ASD), falls into this category of health issue. However, there may soon be a clearer, physical means of determing ASD early on.
A small biotechnology company, SynapDx, in Lexington, Massachusetts has already completed one study using an in-house developed blood test for diagnosing autism in 2012. The study, which blindly compared 170 children diagnosed with autism and 115 children who did not have autism found that the blood test was correct two-thirds of the time. After the success of that trial the company licensed the test.
The company has just embarked on a 660 child, 20-site study focused on evaluating the test further and confirm the findings from the previous trial. The hope is that the test will become a tool used next to other diagnoses techniques in order to determine a diagnosis of Autism.
"We've spent the past three years collaborating with experts to optimize our approach and demonstrate that RNA expression analysis is the key to transforming the ASD diagnostic process," said Stanley Lapidus, CEO, SynapDx. "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 test works by analyzing the expression of 55 genes found in cells of the peripheral blood. Previous research in 2006 found that children with autism have lower levels of certain gene RNA compared to controls. For the initial study that discovered the genes, researchers looked at cases of twins where one was diagnosed with autism and the other was not, between affected siblings and non-affected siblings, and between family members and diagnosed individuals. They found that cells from autistic children expressed lower levels of RNA for a specific set of genes that could be tested for.
According to the Centers for Disease Control and Prevention (CDC), autism is typically diagnosed in children at around four and a half years old, even though symptoms can appear as early as 18 months of age. Early intervention using educational programs can have a significant impact on the outcome and activity of children diagnosed with ASD, leading to a better quality of life and better social integration. This is why an early screening technique would be invaluable in diagnosing children earlier and understanding the disease better.
"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," said Jeremy Veenstra-VanderWeele, M.D., Vanderbilt University.
Information about enrolling in clinical studies can be found here.
To watch a video from the company about their blood testing process click here.