患有脆性X染色体综合征的巴西家庭的生活质量:一项描述性研究。

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2023-08-01 DOI:10.1007/s12687-023-00660-0
Thamires Rosa Dos Santos, Nicoly Stefani Sevalho Carlucci, Lucimar Retto da Silva de Avó, Ingrid Tremel Barbato, Louise Lapagesse de Camargo Pinto, Rui Fernando Pilotto, Carla Maria Ramos Germano, Débora Gusmão Melo
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引用次数: 0

摘要

本研究旨在评估巴西男性脆性X染色体综合征(FXS)家庭的家庭生活质量(FQoL)。从53个家庭收集数据,使用包括社会人口学和临床信息的表格,以及海滩中心家庭生活质量量表,一个5分的李克特量表,从“非常不满意”(1)到“非常满意”(5)。平均总体FQoL得分为3.56±0.79;情绪健康领域得分最低(2.98±1.11),与其他领域差异显著:家庭互动(3.81±0.89);p
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Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study.

This study aimed to assess the Family Quality of Life (FQoL) of Brazilian families with male children with Fragile X syndrome (FXS). Data from 53 families were collected using forms that included sociodemographic and clinical information, as well as the Beach Center Family Quality of Life Scale, a 5-point Likert scale ranging from "very dissatisfied" (1) to "very satisfied" (5). The mean overall FQoL score was 3.56 ± 0.79; the emotional well-being domain had the lowest score (2.98 ± 1.11) and showed significant differences between the other domains: family interaction (3.81 ± 0.89; p < 0.001), parenting (3.66 ± 0.89; p < 0.001), physical and material well-being (3.48 ± 0.83; p < 0.001), and disability-related support (3.75 ± 0.98; p < 0.001). Physical and material well-being was the second-lowest domain and was statistically different from the family interaction domain (p = 0.013). Lower FQoL satisfaction ratings were found in families with children who had difficulty getting along with people of the same age (t(51) = -3.193, p = 0.002; d = 1.019) and difficulty in living together on a day-to-day basis (t(51) = -3.060, p = 0.004; d = 0.888). These results highlight the importance of proper emotional support for the family, emphasizing the need to provide assistance not only for individuals with FXS but also for other family members. Besides, we advocate for the adoption of public policies that provide financial assistance to families and the implementation of the Brazilian Policy of Comprehensive Care for People with Rare Diseases.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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