Genetic Condition May Be Mistaken For Autism in Some Kids

A new study conducted by researchers at the University of California shows that some of the children who are diagnosed with autism might have a genetic disorder instead.


Apparently, children are often misdiagnosed because the social impairments associated with their developmental delay can resemble features of autism.


Rates of autism in children with 22q11.2 deletion syndrome have been reported at between 20 percent and 50 percent.  But this study found that none of the 29 children with the syndrome “met strict diagnostic criteria” for autism.


Children diagnosed with 22q11.2 deletion syndrome may have mild to severe heart problems, weakened immune systems and malformations of the head, neck and roof of the mouth (palate).  They also experience developmental delays, with IQs in the borderline to low-average range.  They experience significant anxiety and appear socially awkward.


According to the U.S. National Institutes of Health, 22q11.2 deletion syndrome affects about one in 4,000 people, although it may be more common with some cases being misdiagnosed.


Autism treatments do not work for children with 22q11.2 deletion syndrome and further study is needed to assess more appropriate treatments for these children, such as improving their communication skills, treating their anxiety, and helping them to remain focused and on task, according to study lead author Kathleen Angkustsiri, who works as an assistant professor of developmental-behavioral pediatrics at the MIND Institute.


“There are a variety of different avenues that might be pursued rather than treatments that are designed to treat children with autism,” Angkustsiri said in a university news release.  “There are readily available, evidence-based treatments that may be more appropriate to help maximize these children’s potential.”


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