Examining childhood outcomes in 22q11 deletion syndrome

  • Awarded: 2008
  • Award Type: Simons Simplex Collection
  • Award #: 89637

22q11 deletion syndrome is among a growing number of genomic disorders that are associated with autism, and is one of the most common recurrent copy number variants (CNVs) — deletions or duplications of DNA — associated with altered development of social-communication, language and behavioral skills.

Opal Ousley’s investigations into these areas reveal that when strict diagnostic criteria are used, autism occurs in approximately 15 to 20 percent of children with 22q11 deletion syndrome. However, a majority of children with the syndrome show social-communication and language delays even in the absence of autism. Repetitive behaviors and restricted interests may be present, with or without a specific social deficit.

Given this wide variability of social and behavioral symptom presentation, studying children with 22q11 deletion syndrome may help determine what factors lead to better outcomes, as well as what factors contribute to poorer outcomes. In addition, given that 22q11 deletion syndrome is associated with known alterations in biology and neurobiology, such as changes in immunity, studying children with the syndrome may lead to novel hypotheses and treatments that may impact children with autism and other social disabilities.


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