eISSN: 2449-8580
ISSN: 1734-3402
Family Medicine & Primary Care Review
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vol. 20
Original paper

Psycho-social problems in patients with 22q11.2 deletion syndrome – according to subjective evaluation by parents

Agnieszka Cywińska-Bernas, Jarosław Paśnik, Dorota Szałowska-Woźniak, Eliza Pilarz, Paweł Jarosz, Małgorzata Piotrowicz, Agnieszka Moll-Maryńczak, Marcin Machnia, Krzysztof Zeman

Family Medicine & Primary Care Review 2018; 20(2): 117–123
Online publish date: 2018/06/26
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Deletion syndrome 22q11.2 is a frequently occurring genetic disorder effecting not only malfunctions of the structure and function of many organs and systems, but also a number of psycho-social problems in patients of all ages.

The aim of the study was the evaluation of psycho-social problems experienced by people with confirmed 22q11DS observed by their parents/caregivers.

Material and methods
A group of 32 parents’/caregivers’ children with 22q11DS diagnosis (confirmed by FISH or MLPA analysis) were examined. The age of patients at the moment of examination was from 3 months to 23 years. To identify the most frequent problems a questionnaire survey was used with the use of the authors’ questionnaire.

On the basis of the acquired data analysis it was stated that the most frequent problems in children reported by the questioned parents/caregivers were problems with speech development, problems with focusing attention, problem in relations with peers, and school difficulties. The questioned parents also emphasized excessive anxiety of the children and frequent behavior disorders. Moreover, many parents are concerned with their children’s adult lives, and emphasize the necessity of professional support (including psychological) in different stages of the sick child’s upbringing.

Patients with 22q11DS experience many psychological and social problems and require, with their families, psychological support in different stages of life. The child’s condition, in many parents’ opinion, is a factor significantly influencing functioning in life and determining the occurrence of problems in the future. The task of primary care physicians is not only to identify patients suspected of 22q11DS and to lead them to genetic diagnostics, but also to provide support to the patients and their families in different stages of life in cooperation with many other specialists.


22q11 deletion syndrome, behavior, psychology, child, parents

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