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Genetic disorder might be confused with autism

Ohio residents may be surprised to learn that a little-known genetic disorder that is almost as common as Down syndrome could be misdiagnosed as autism although recent studies show that the disorder’s symptoms have little in common with autism spectrum disorder. The genetic disorder is called 22q11.2 deletion syndrome, or 22q, because children with the syndrome are born without a section of chromosome 22.

22q usually causes heart and kidney problems as well as slow growth and immune system deficits. Children with the disorder may be slow to develop socially, leading to its being mistaken for autism. The syndrome affects about one in 2000 to 4000 live births.

A new study has shown conclusively that children with 22q are not autistic. 29 children with confirmed 22q were tested using standard methods for diagnosing autism spectrum disorder, such as the Autism Diagnostic Observation Schedule, and their parents were asked to answer a Social Communication Questionnaire. None of the children with 22q tested positive for autism on both the ADOS and SCQ.

The findings of the study are important because 22q patients have often been lumped together with autistic children and treated as if they had autism. Children with 22q have a different prognosis, and the syndrome follows a different treatment path than autism. They need proven treatment options that are specific to 22q in order to help them realize their full potential.

Misdiagnosis of children with 22q might hinder their development, and they might miss opportunities to mitigate the consequences of the disorder. In such cases, a medical malpractice attorney may be able to help the child’s family seek fair compensation for expenses arising out of a misdiagnosis, such as medical costs associated with certain therapies.

Source: Medical News Today, “Genetic disorder 22q could be misdiagnosed as autism”, Honor Whiteman, September 20, 2013