According to a study by the University of California Davis MIND Institute, half of children with the 22q11.2 deletion syndrome may have been misdiagnosed with autism. This genetic disorder refers to the deletion of the chromosome 22q11.2, resulting in birth defects or learning and behavioral problems. It affects 1 in every 2000 of the general population.
Children with “22q” exhibit symptoms such as social awkwardness, anxiety, developmental delays, a weak immune system, head and neck malformations, among others. Given the similarity to the symptoms of autism, children with 22q may be misdiagnosed and may be given incorrect treatment. This could further exacerbate the social behavior of the child, and in severe cases, can even lead to schizophrenia.
29 children from a study called the Cognitive Analysis and Brain Imaging Laboratory (CABIL) were made to participate in the study. The researchers pointed out how the parents of these children observed that although these children were diagnosed with autism, they often showed signs of being different from other children with autism.
Using two standard tests for diagnosing autism, namely the Autism Diagnostic Observation Schedule (ADOS) and the Social Communication Questionnaire (SCQ), the researchers discovered that only five among the 29 participants got high scores for the ADOS test. Four out of these five children also scored high in terms of anxiety levels. None of the children scored marks that would merit an autism spectrum disorder diagnosis.
The researchers also mentioned that the children’s social awkwardness may actually be more a result of their “developmental delay and intellectual disability” than autism.
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Says the study’s lead author and MIND Institute assistant professor of developmental-behavioral pediatrics, Kathleen Angkustsiri, “The results of our study show that of the children involved in our study, no child actually met strict diagnostic criteria for an autism spectrum disorder.”
The researchers noted a need for larger studies, as well as “more accurate and comprehensive ways to diagnose autism”. A proper diagnosis of children with 22q will possibly improve their overall social and communication skills.
• September 18, 2013. Alexandra Sifferlin. “Genetic Condition Often Misdiagnosed As Autism” healthland.time.com