Autism misdiagnosed in children with 22q11.2 deletion syndrome

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Some children with 22q11.2 deletion syndrome are incorrectly diagnosed with autism, according to a study published September 18. Although children with 22q11.2 show social problems similar to those found in autism, they do not meet the criteria for autism diagnoses, report researchers from the Mind Institute at the University of California, Davis. If therapies designed to treat autism are used with these children, some of their symptoms may worsen.

"This is very important because the literature cites rates of anywhere from 20 to 50 percent of children with the disorder also have an autism spectrum disorder. Our findings lead us to question whether this is the correct label for these children who clearly have social impairments. We need to find out what interventions are most appropriate for their difficulties," said lead author Dr. Kathleen Angkustsiri.

22q11.2 is a genetic disorder that causes physical and intellectual problems. It has a wide range of problems and symptoms and can affect any part of the body according to the National Institutes for Health (NIH). These problems may include cleft palates, facial abnormalities, developmental delays, heart problems and autoimmune disorders. Children with this syndrome have a high risk of developing mental illnesses including depression and anxiety.

In this study, researchers tested 29 children with 22q11.2 deletion syndrome. The Autism Diagnostic Observation Schedule (ADOS) was administered to 16 boys and 13 girls. Their parents completed the Social-Communication Questionnaire (SCQ). The ADOS and SCQ are the “gold standard” for diagnosing autism. After reviewing the results, the researchers found that none of the 29 children met the strict criteria for an autism diagnosis.

Many children with 22q11.2 deletion syndrome suffer from anxiety. Treating these children with autism therapies can increase their anxiety. “There are a variety of different avenues that might be pursued rather than treatments that are designed to treat children with autism,” Angkustsiri said. “There are readily available, evidence-based treatments that may be more appropriate to help maximize these children’s potential.”

Any parents that have questions about the accuracy of an autism diagnosis made for their child with 22q11.2 deletion syndrome should contact their medical provider. They can ask their doctor the basis for their child's autism diagnosis. If the ADOS and SCQ were not used for the diagnosis, parents can discuss whether or not a new assessment of their child is needed.

The study, "Social impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a different Endophenotype?" is published online in the Journal of Autism and Developmental Disorders.

More information on 22q11.2 deletion syndrome is available from the International 22q11.2 Syndrome Foundation.

Sources:

Study finds that a subset of children often considered to have autism may be misdiagnosed

22q11.2 deletion syndrome (NIH)

This article was originally published by me on Examiner.com

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