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Language processing in children with 22q11 deletion syndrome and autism

Opal Ousley, Ph.D.
Emory University


Children with autism spectrum disorders have impaired language and communication development, but the severity of these problems varies greatly between individuals. A new study by Opal Ousley at Emory University is aimed at uncovering the root of this variation, based on the hypothesis that some communication deficiencies are unique to autism, whereas others result from an underlying genetic syndrome.

Ousley’s study will focus on children with 22q11 deletion syndrome, which occurs when a small piece of chromosome 22 is missing. The chromosomal defect is associated with language delay and difficulties in phonology, and has been strongly linked to autism spectrum disorders. The study will include three groups: children who have the genetic syndrome but do not have autism, children affected with both the genetic syndrome and autism, and children who have autism with no known genetic cause.

The researchers plan to assess elementary-school children twice for short-term changes in their processing of single words, ability to remember words after hearing them, and more complex forms of verbal expression.

By comparing the three groups of children, Ousley hopes to learn whether language progression is impaired differently in children with autism with the genetic defect, and whether this impairment could be a red flag for autism in other children with the defect. Expanded studies could then track language development across other genetic subgroups of autism. The findings from this study may facilitate earlier detection of autism and more accurate prognosis of language development and may ultimately result in better educational guidelines and interventions for parents and teachers of children with autism.