Departamento de Medicina, Universidade Federal de São Carlos (UFSCar), Brasil.
Instituto Nacional de Genética Médica Populacional, INAGEMP, Brasil.
J Intellect Disabil. 2023 Sep;27(3):794-807. doi: 10.1177/17446295221079583. Epub 2022 May 11.
This cross-sectional and descriptive study examined the family quality of life (FQoL) among 72 Brazilian families who have children with Williams syndrome, a rare genetic disorder in which most individuals have an intellectual disability, usually mild. Data were collected using sociodemographic and clinical data forms and the Beach Center FQoL Scale. The overall FQoL score was 3.90 ± 0.45, below the limit of four points considered satisfactory. Families felt more satisfied with the family interaction (4.11 ± 0.57), parenting (4.07 ± 0.42), and disability-related support (3.94 ± 0.62) domains, and less satisfied with the family's emotional (3.49 ± 0.73) and physical/material well-being (3.73 ± 0.74) domains. Paternal education, children's cardiopathy and autonomy in activities of daily living explained 24.5% of the variance in the overall FQoL. Measures are necessary to improve the emotional and physical/material well-being of families to reduce the family burden. Monitoring the child's cardiac condition and promoting independence in activities of daily living are also the main procedures.
这项横断面描述性研究调查了 72 个巴西家庭的生活质量(FQoL),这些家庭的孩子患有威廉姆斯综合征,这是一种罕见的遗传疾病,大多数患者都存在智力障碍,通常为轻度。研究使用社会人口学和临床数据表格以及海滩中心 FQoL 量表收集数据。整体 FQoL 评分为 3.90 ± 0.45,低于被认为满意的四分界限。家庭在家庭互动(4.11 ± 0.57)、育儿(4.07 ± 0.42)和残疾相关支持(3.94 ± 0.62)领域的满意度较高,而在家庭情感(3.49 ± 0.73)和身体/物质福利(3.73 ± 0.74)领域的满意度较低。父亲的教育程度、孩子的心脏病和日常生活活动的自主性解释了整体 FQoL 变异的 24.5%。需要采取措施来改善家庭的情感和身体/物质福利,以减轻家庭负担。监测孩子的心脏状况和促进日常生活活动的独立性也是主要的程序。