What is it about?

Quality of family life is a broad concept encompassing aspects of different domains within family relationships, such as family interaction, parenting, emotional well-being, physical and material well-being, and support from other people. Having a child with any disability may modify the quality of family life, and assessing it in these families is particularly relevant to offering more appropriate support and intervention. Rubinstein-Taybi syndrome is a rare genetic disorder characterized by several congenital anomalies, short stature, intellectual disability, and behavioral characteristics. We interviewed 51 Brazilian families to understand how having a child with Rubinstein-Taybi syndrome could change the quality of family life using the Beach Center Family Quality of Life Scale, which assesses families’ perceptions of their satisfaction with different aspects of their quality of life. Our results showed that the most impaired aspects were emotional and physical-material well-being. According to the findings, a lack of external support, insufficient time for family members to pursue their interests, stress, financial insecurity, difficulty accessing healthcare, and a lack of public safety all harmed the quality of family life.

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Why is it important?

Based on the results of our research, we propose ways to reduce the impact, such as offering psychological assistance to those families to improve their emotional well-being and increase resilience, in addition to investments in social policies, services, and human and material resources. Those actions are needed to promote comprehensive care and reduce family burdens.


Few studies have focused on the family impact of caring for a child with a rare genetic disease. There had been no studies on the quality of life of families with Rubinstein-Taybi syndrome children in particular. We believe that this subject has scientific and social relevance, bringing visibility to the demands of families within the context of public health genetics and serving as a tool for the Brazilian Unified Health System (in Portuguese, Sistema Único de Saúde - SUS).

Amanda Rodrigues Vale
Universidade Estadual de Campinas

Read the Original

This page is a summary of: 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, August 2022, Wiley, DOI: 10.1002/ajmg.a.62914.
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