Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study

Author(s)

dos Santos, Thamires Rosa ; Carlucci, Nicoly Stefani Sevalho ; de Avo, Lucimar Retto da Silva ; Barbato, Ingrid Tremel ; Pinto, Louise Lapagesse de Camargo ; Pilotto, Rui Fernando ; Germano, Carla Maria Ramos ; Melo, Debora Gusmao

• Document type: Journal article
• Source: JOURNAL OF COMMUNITY GENETICS; v. 14, n. 4, p. 12-pg., 2023-08-18.

Abstract

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 & PLUSMN; 0.79; the emotional well-being domain had the lowest score (2.98 & PLUSMN; 1.11) and showed significant differences between the other domains: family interaction (3.81 & PLUSMN; 0.89; p < 0.001), parenting (3.66 & PLUSMN; 0.89; p < 0.001), physical and material well-being (3.48 & PLUSMN; 0.83; p < 0.001), and disability-related support (3.75 & PLUSMN; 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. (AU)

• FAPESP's process: 18/19875-0 - Quality of life of families who have children with rare genetic diseases and/or intellectual disability
• Grantee: Débora Gusmão Melo
• Support Opportunities: Regular Research Grants
• FAPESP's process: 18/11901-2 - Quality of life of families who have children with Fragile-X syndrome in Brazil
• Grantee: Thamires Rosa dos Santos
• Support Opportunities: Scholarships in Brazil - Scientific Initiation