Functional outcomes of adults with 22q11.2 deletion syndrome

Genet Med. 2012 Oct;14(10):836-43. doi: 10.1038/gim.2012.66. Epub 2012 Jun 28.


Purpose: The 22q11.2 deletion syndrome is a common multisystem genomic disorder with congenital and later-onset manifestations, including congenital heart disease, intellectual disability, and psychiatric illness, that may affect long-term functioning. There are limited data on adult functioning in 22q11.2 deletion syndrome.

Methods: We used the Vineland Adaptive Behavior Scales to assess functioning in 100 adults with 22q11.2 deletion syndrome (n = 46 male; mean age = 28.8 (standard deviation = 9.7) years) where intellect ranged from average to borderline (n = 57) to mild intellectual disability (n = 43).

Results: More than 75% of the subjects scored in the functional deficit range. Although personal, vocational, and financial demographics confirmed widespread functional impairment, daily living skills and employment were relative strengths. Intelligence quotient was a significant predictor (P < 0.001) of overall and domain-specific adaptive functioning skills. A diagnosis of schizophrenia was a significant predictor (P < 0.05) of overall adaptive functioning, daily living skills, and socialization scores. Notably, congenital heart disease, history of mood/anxiety disorders, sex, and age were not significant predictors of functioning.

Conclusion: Despite functional impairment in adulthood that is primarily mediated by cognitive and psychiatric phenotypes, relative strengths in activities of daily living and employment have important implications for services and long-term planning. These results may help to inform expectations about outcomes for patients with 22q11.2 deletion syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 22q11 Deletion Syndrome / pathology*
  • Activities of Daily Living*
  • Adult
  • Age Factors
  • Canada
  • Employment / statistics & numerical data
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology*
  • Intelligence Tests
  • Linear Models
  • Male
  • Schizophrenia / genetics
  • Schizophrenia / pathology*