All children diagnosed with autism should undergo genetic testing, but unfortunately, not all parents and guardians are able to follow through. Just how important is genetic testing for children with autism and why is it necessary?

Children diagnosed with autism spectrum disorder (ASD) are recommended to undergo genetic testing that includes chromosomal microarray (CMA) and fragile X. In a recent study conducted by Baylor College of Medicine experts, the charts of 500 toddlers from 18 to 36 months, all diagnosed with ASD, were reviewed. The study aimed to understand how many children received genetic testing and what their results say about their conditions.

The researchers found out that nearly 60% of their subjects completed testing. They compared these subjects to subjects who weren’t able to complete testing and discovered that parents and guardians who perceived their children to be lower functioning in terms of language, adaptive, and motor skills were more likely to complete the genetic testing. They were also more likely to follow through with their medical practitioners’ recommendations.

With regards to the 60% of patients who completed the testing, the pathogenic yield was 12% with pathogenic CMA findings in 9% and fragile X findings in 3%. The researchers also found out that among these subjects who completed testing, 70% received further medical recommendations from their healthcare providers based on their test results.

Further medical recommendations given to children with ASD diagnosis often included hearing exams, vision exams, seizure monitoring, laboratory studies, and referrals to specialists. These recommendations were dependent on the gene affected by the genetic finding.

Why is genetic testing crucial for children with ASD? According to Dr. Holly Harris, assistant professor of pediatrics-developmental at Baylor and Texas Children’s Hospital, autism is a behaviorally diagnosed disorder and does not have a clear diagnostic test or biomarker. Hence, genetic testing is the only way a healthcare provider can look for the potential cause of the child’s condition.

Hence, the results of a genetic test not only help the families of children with ASD diagnosis understand the nature of the condition but also, more importantly, empower physicians to make sufficient and effective medical recommendations.


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