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Children with Genetic Condition Continue to be Misdiagnosed as Autistic, Study Reports

Update Date: Sep 19, 2013 12:21 PM EDT

When it comes to developmental disorders, so many symptoms overlap that make diagnosing children with certain disorders never 100 percent accurate. Even if 100 percent accuracy is not scientifically possible, there is still a lot of room for improvement. According to researchers from a new study, children with a specific genetic condition are often misdiagnosed with autism. The misdiagnosis leads to poor treatment and could exacerbate the condition, which is why researchers want to create a better way of differentiating the disorders.

In this study, the researchers examined children with the genetic condition called 22q11.2 deletion syndrome. This condition leads to developmental delays, anxiety, social awkwardness and other symptoms. Since these symptoms do resemble the symptoms of autism, doctors often misdiagnose chidlren. Around 20 to 50 percent of children with 22q get diagnosed with autism. They are then treated with behavioral therapy, which is not effective for people with the genetic condition. Behavioral therapy could worsen the child's anxiety problems and cause more mental issues later on in life.

"It's quite clear that children with the [22q] disorder do have social impairments," commented study author, Tony J. Simon, a psychiatry and behavioral sciences professor at the MIND institute, according to TIME. "But it did seem to us that they did not have a classic case of autism spectrum disorder. They often have very high levels of social motivation. They get a lot of pleasure from social interaction, and they're quite socially skilled."

Due to the confusion between the two diseases, researchers from the University of California Davis MIND Institute enlisted the help of 29 children from a website titled, Cognitive Analysis and Brain Imaging Laboratory (CABIL). The research team administered two standardized tests that are used to diagnose autism spectrum disorder. The tests, the Autism Diagnostic Observation Schedule (ADOS) and the Social Communication Questionnaire (SCQ), were better able to differentiate between the two conditions. The researchers found that none of the children with 22q scored high enough on these tests to be diagnosed with an autism spectrum disorder. The researches found that only five children had high scores on the ADOS test and four of the five had anxiety issues.

The researchers believe that their findings can help differentiate future cases of 22q from autism. However, the experiment will need to be carried out in bigger cases with a larger sample set. The study was published in the Journal of Autism and Developmental Disorders.

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