Doctors Find A Way To Detect Autism Before Symptoms Appear 

mbg Editorial Assistant By Christina Coughlin
mbg Editorial Assistant
Christina Coughlin is an editorial assistant at mindbodygreen. She graduated from Georgetown University in 2019 with a degree in psychology and music.
Doctors Find A New Way To Detect Autism Before Symptoms Appear

Image by @christyhermogenes / Twenty20

When dealing with autism spectrum disorder (ASD), early intervention is crucial. Currently, most children with the disorder aren't diagnosed until after the age of 4. Because diagnoses don't occur until parents notice symptoms in their children, they may be missing out on helpful therapies to improve behavior and communication. In addition, assessments for autism are riddled with long waitlists and scarce availability. 

New research has discovered that DNA testing of infants who have older siblings with ASD can detect the disorder before symptoms would appear, which could be extremely beneficial due to the importance of early intervention. 

According to the researchers, there is a specific gene alteration called copy number variations (CNVs), which are linked to ASD. The researchers looked for CNVs in 253 Canadian families, studying infants until age 3. Results showed that the presence of CNV was associated with a high likelihood of a future ADS diagnosis. 

Studies show that families who have a child with ASD are 2 to 8% more likely to have a second child affected by the disorder, so it makes sense that the researchers would get these results. However, this is the first time that scientists are able to properly quantify the predictive elements of CNVs toward an ASD diagnosis. Because of the lack of available direct autism tests, this finding can push people with CNVs to the front of the waiting list, allowing earlier diagnoses.

The researchers plan to conduct further studies looking at gene-related technologies and how ASD can be detected as early as possible with the identification of copy number variations in children's DNA. For now, research on treatment has shown promise, with a recent study on the effectiveness of naturalistic interventions.

As Andrea Libutti, M.D., told us previously, "Yes, autism can be challenging, puzzling, and all-encompassing. But it's actually an invitation to redefine the way you think, act, and live as a parent."

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