-- Robert Preidt
WEDNESDAY, Sept. 18 (HealthDay News) -- Some children diagnosed
with autism may actually have a genetic deletion disorder instead,
according to a new study.
These children are often misdiagnosed because the social
impairments associated with their developmental delay can resemble
features of autism, said the researchers at the University of
California, Davis, MIND Institute.
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.
The findings show that rigorous evaluations are needed to
accurately diagnose autism in children with 22q11.2 deletion
syndrome, the researchers said in the study, which was published
online Sept. 18 in the
Journal of Autism and Developmental Disorders.
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
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. She is 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."
Although children with the disorder do have social impairments,
they are unlike children with autism in that they often have high
levels of social motivation, according to Tony Simon, a professor
of psychiatry and behavioral sciences and director of the
chromosome 22q11.2 deletion program at the MIND Institute.
"They get a lot of pleasure from social interaction, and they're quite socially skilled," he said in the news 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."
The U.S. National Library of Medicine has more about
22q11.2 deletion syndrome.
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