Up to 50% of children with a genetic disorder unrelated to autism are mistakenly diagnosed with the developmental disorder, and that can lead to inappropriate treatments that can worsen their condition.
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.
The findings still need to be confirmed in larger studies, but the authors say the results highlight the need for more accurate and comprehensive ways to diagnose autism. Improving diagnosis of that condition could also help patients with 22q to receive more appropriate therapy that might relieve some of their anxiety symptoms and enhance their communication skills as well.
The study is published in the in Springer’s Journal of Autism and Developmental Disorders.