Genetic Disorder Often Misdiagnosed as Autism

A genetic disorder that can lead to developmental delays, anxiety, and social awkwardness is misdiagnosed as an autism spectrum disorder (ASD) as much as 50 percent of the time, according to a new study by researchers at the University of California Davis.  The mistake can lead to inappropriate treatment for the children, and may even worsen the symptoms of their genetic condition.  More from Time.com:

About one in 2000 people are diagnosed with 22q11.2 deletion syndrome, which can lead to developmental delays, social awkwardness and anxiety, among other symptoms. Because those symptoms overlap with some of the hallmark signs of autism, researchers say that anywhere from 20% to 50% of children with 22q, as the condition is called, are misdiagnosed with autism.

That can have serious implications for these patients, since behavior-based treatments designed to alleviate the social deficits of autism may actually exacerbate anxiety among those with the 22q genetic disorder. If left untreated, children with 22q can be at higher risk of developing other mental health disorders like schizophrenia later in life.

To tease apart the differences between children with 22q and those with autism, the researchers, based at the University of California Davis MIND Institute, recruited a small group of 29 kids from a website the study called Cognitive Analysis and Brain Imaging Laboratory (CABIL). The scientists noticed that parents of children with the genetic disorder often commented that while their kids were diagnosed with autism, they seemed different from other children with the developmental disorder. “It’s quite clear that children with the [22q] disorder do have social impairments,” said study author Tony J. Simon, a professor of psychiatry and behavioral sciences at the MIND Institute in a statement. “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.”

So the team gave the children two of the gold standard tests for diagnosing autism — the Autism Diagnostic Observation Schedule (ADOS) and the Social Communication Questionnaire (SCQ) — to see if they indeed showed signs of autism.

Only five of the children had elevated scores on the ADOS test, and four out of the five had anxiety. None of the 22q children had scores high enough in both tests to classify them as having autism.

Image: Child with pediatrician, via Shutterstock

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