Are You Sure It’s Autism?

Researchers from the University of California, Davis, MIND Institute released findings that some children who with an autism diagnosis may actually have a genetic deletion disorder. The misdiagnoses stem from similarities in developmental delays and social impairments common to both autism and the deletion of gene 22q11.2.

Children with 22q11.2 deletion syndrome have a reported autism diagnosis rate of 20-50%, but of the 29 children in the UC Davis MIND study with the syndrome, none met the strict diagnostic criteria for autism. This study, published online September 18 in The Journal of Autism and Developmental Disorders, demonstrates the need for more rigorous evaluations prior to diagnosis.

In addition to developmental delays, low to average IQs, and significant social anxiety, children with the gene deletion syndrome may also have mild to severe heart conditions, malformations of the head, neck, and palate, as well as weakened immune systems.

Children with this rare syndrome do not respond to autism treatment and further study must be conducted to develop more effective therapies to cultivate their communication skills, treat their anxiety, and help them to maintain focus.

The US National Institutes of health reports that the gene deletion affects approximately one in 4,000 people, and one in 68 are diagnosed with an autism spectrum disorder. More accurate diagnoses could have a big impact on these statistics as well as the ability to gauge the efficacy of different treatments.

“There are a variety of different avenues that might be pursued rather than treatments that are designed to treat children with autism,” said Kathleen Angkustsiri, the assistant professor of developmental behavioral pediatrics at the MIND Institute and the leader of the study. “There are readily available, evidence-based treatments that may be more appropriate to help maximize these children’s potential.”

According to Tony Simon, professor of psychiatry and director of the chromosome 22q11.2 deletion program at the MIND Institute, one of the main differences in the social impairments between children with autism and children with the syndrome is that the latter group is often very socially motivated.’’

“They get a lot of pleasure from social interaction, and they’re quite socially skilled,” he stated in the study press release. “If you put them with their younger siblings’ friends, they function very well in a social setting and they interact well with an adult who accommodates their expectations for social interaction.”

While doctors largely rely on behavioral analysis in the diagnosis for autism, there is a lot of research currently being conducted to find other means of screening including blood tests and the search for reliable biomarkers.

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