Quality of life of families who have children with rare genetic diseases and/or intellectual disability

• Grant number: 18/19875-0
• Support Opportunities: Regular Research Grants
• Start date: July 01, 2019
• End date: December 31, 2021
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Débora Gusmão Melo
• Grantee: Débora Gusmão Melo
• Host Institution: Centro de Ciências Biológicas e da Saúde (CCBS). Universidade Federal de São Carlos (UFSCAR). São Carlos , SP, Brazil
• Associated researchers: Carla Maria Ramos Germano

Abstract

This project aims to investigate the impact of rare genetic diseases and intellectual disability on Brazilian's family quality of life. It is a descriptive and a cross-sectional survey in which families who have children with rare genetic diseases (in the beginning, Cornelia de Lange, Williams-Beuren, Rubinstein-Taybi syndromes, and epidermolysis bullosa) and families who have children with intellectual disability (mild or moderate, with or without associated autism spectrum disorder) will be invited to participate. Data will be collected by fill out forms with family sociodemographic information, affected children clinical information, Barthel and Lawton and Brody's functional indexes for the sample children, as well as the "Beach Center Family Life Quality Scale" (BCFQoLS). The BCFQoLS is a specific scale to evaluate the quality of life of families who have a member with some kind of disability and has 25 items divided in 5 domains (parenting, family interaction, emotional well-being, physical/material well-being and disability-related supports). We will analyze the correlation between the different domains of the BCFQoLS and will investigate the effect of socioenvironmental and personal factors of individuals with genetic disease and/or intellectual disability on family quality of life. The level of significance adopted in the statistical analyzes will be 5%. Ultimately, we intend to contribute for the development of a comprehensive care line for individuals with genetic diseases and intellectual disability, and their families, according to National Policy on Comprehensive Care for People with Rare Diseases in the Brazilian Unified Health System. (AU)

Scientific publications

(5)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

MARCELA CESARETTI BORILLI; CARLA MARIA RAMOS GERMANO; LUCIMAR RETTO DA SILVA DE AVÓ; RUI FERNANDO PILOTTO; DÉBORA GUSMÃO MELO. Qualidade de vida familiar entre famílias que têm filhos com deficiência intelectual leve associada ao transtorno do espectro do autismo leve. Arquivos de Neuro-Psiquiatria, v. 80, n. 4, p. 360-367, 2022-03-14. (18/19875-0)

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. Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study. JOURNAL OF COMMUNITY GENETICS, v. 14, n. 4, p. 12-pg., 2023-08-18. (18/19875-0, 18/11901-2)

PEREIRA, RAFAELA CATELAN MARTINS; APIS, ALINE; DOS SANTOS, THAMIRES ROSA; DE AVO, LUCIMAR RETTO DA SILVA; PILOTTO, RUI FERNANDO; GERMANO, CARLA MARIA RAMOS; MELO, DEBORA GUSMAO. Quality of life of Brazilian families who have children with Williams syndrome. JOURNAL OF INTELLECTUAL DISABILITIES, v. N/A, p. 14-pg., 2022-05-11. (17/06504-1, 18/19875-0)

VALE, AMANDA RODRIGUES; DA SILVA DE AVO, LUCIMAR RETTO; PILOTTO, RUI FERNANDO; RAMOS GERMANO, CARLA MARIA; MELO, DEBORA GUSMAO. Quality of life of Brazilian families who have children with Rubinstein-Taybi syndrome: An exploratory cross-sectional study. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 188, n. 11, p. 12-pg., 2022-08-01. (18/10255-0, 18/19875-0)

MARCELA CESARETTI BORILLI; CARLA MARIA RAMOS GERMANO; LUCIMAR RETTO DA SILVA DE AVÓ; RUI FERNANDO PILOTTO; DÉBORA GUSMÃO MELO. Qualidade de vida familiar entre famílias que têm filhos com deficiência intelectual leve associada ao transtorno do espectro do autismo leve. Arquivos de Neuro-Psiquiatria, 2022-03-14. (18/19875-0)