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An examination of adaptive behavior and functional outcomes in adults with 22q11.2 deletion syndrome: A parental perspective

  • University of Galway
  • Inc.

Research output: Contribution to a Journal (Peer & Non Peer)Articlepeer-review

5 Citations (Scopus)

Abstract

22q11.2 Deletion Syndrome (22q11DS) is a genetic syndrome caused by a chromosomal microdeletion. It affects approximately 1 in 850–992 pregnancies, and its clinical manifestations include congenital heart disease, gastrointestinal symptoms, and psychiatric illnesses. The study examined the relationship between adaptive behavior and functional outcomes, educational attainment, employment, and independent living, and whether age, gender, intellectual disability, presence of psychiatric disorder, and close friendships could predict levels of adaptive behavior. Parents of adults with 22q11DS (n = 101; 48 male and 54 female) completed the Waisman Activities of Daily Living Scale, demographic details, and questions elicited employment, education, and relationships status. Analysis conducted in SPSS, included descriptive statistics, measures of association, Analysis of Variance, logistic and linear regressions. Differences in levels of overall adaptive behavior were found regarding employment and living status, but not in educational attainment. Having close friendships was associated with adaptive behavior as well as the likelihood of living independently. Further research is needed, ideally using prospective designs and purposive sampling strategies. This needs to examine how social and communication deficits impact relationship building and how they are affected by the clinical manifestations of 22q11DS. It also needs to focus on how different social structures interface with levels of adaptive behavior.

Original languageEnglish
Pages (from-to)1040-1047
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume188
Issue number4
DOIs
Publication statusPublished - 1 Apr 2022

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

Keywords

  • 22q11.2 DS
  • DiGeorge syndrome
  • Velo-cardio-facial syndrome
  • adaptive behavior
  • adaptive living skills

Authors (Note for portal: view the doc link for the full list of authors)

  • Authors
  • Curtin, A., Mannion, A., Shprintzen, R.J., Coyne, R., Whelan, S., & Leader, G.
  • Curtin, A., Mannion, A., Shprintzen, R. J., Whelan, S., Coyne, R., & Leader, G.

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