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DOI 10.1002/ajmg.a.62604

Медицинская библиотека · American journal of medical genetics. Part A · 2021

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

Curtin Andrea, Mannion Arlene, Shprintzen Robert J, Whelan Sally, Coyne Rory, Leader Geraldine

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Аннотация

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.

Для цитирования: Curtin Andrea, Mannion Arlene, Shprintzen Robert J, Whelan Sally, Coyne Rory, Leader Geraldine. An examination of adaptive behavior and functional outcomes in adults with 22q11.2 deletion syndrome: A parental perspective.. American journal of medical genetics. Part A. 2021. DOI: 10.1002/ajmg.a.62604.

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