Quality of life of Brazilian families who have children with Rubinstein-Taybi syndrome: An exploratory cross-sectional study

Autor(es)

Vale, Amanda Rodrigues ; da Silva de Avo, Lucimar Retto ; Pilotto, Rui Fernando ; Ramos Germano, Carla Maria ; Melo, Debora Gusmao

• Tipo de documento: Artigo Científico
• Fonte: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 188, n. 11, p. 12-pg., 2022-08-01.

Resumo

This exploratory cross-sectional study aimed to examine the family quality of life (FQoL) among 51 Brazilian families who have children with Rubinstein-Taybi syndrome, a rare genetic disorder. Data were collected using sociodemographic and clinical data forms, as well as the Beach Center FQoL Scale, a 5-point Likert scale ranging from "very dissatisfied" (1) to "very satisfied" (5). The average score of the overall FQoL was 3.93 +/- 0.64. Families' scores were higher for family interaction (4.17 +/- 0.76), parenting (4.13 +/- 0.61), and disability-related support (4.08 +/- 0.76) domains, and lower for the family's emotional well-being (3.31 +/- 0.96) and physical/material well-being (3.76 +/- 0.82) domains. Family income, attendance at religious services, presence of ocular abnormalities, and aggressive behavior explained 46.2% of the variance in the overall FQoL. In summary, FQoL seems to be anchored in aspects such as family interaction and the care of parents, and be negatively affected by emotional issues, physical, and material limitations. In this context, psychological assistance should be provided to both parents and siblings whenever indicated, for improving emotional well-being and increasing family resilience. Additionally, investments in social policies, services, and human and material resources are needed to improve the physical and material conditions of families, promote better health care, and therefore reduce the family burden. (AU)

• Processo FAPESP: 18/10255-0 - Qualidade de vida de famílias que tem filhos com Síndrome no Brasil
• Beneficiário: Amanda Rodrigues Vale
• Modalidade de apoio: Bolsas no Brasil - Iniciação Científica
• Processo FAPESP: 18/19875-0 - Qualidade de vida de famílias que têm filhos com doenças genéticas raras e/ou deficiência intelectual
• Beneficiário: Débora Gusmão Melo
• Modalidade de apoio: Auxílio à Pesquisa - Regular