Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement.

This exploratory cross-sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5-point Likert tool that assesses the quality of life of families with children with disabilities across five domains. The Barthel index score was 41.8 ± 31.6, indicating severe dependence. The overall FQoL was 4.04 ± 0.47. Families reported higher scores in the family interaction (4.32 ± 0.50), parenting (4.23 ± 0.47), and disability-related support (4.16 ± 0.65) domains and lower scores in the emotional well-being (3.47 ± 0.80) and physical/material well-being (3.83 ± 0.74) domains. Parents living together, the father having completed higher education, and congenital heart disease explained 31.3% of the variance in the overall FQoL scores (R 2 = 0.313, F(3,63) = 9.556, p < 0.001). The physical and material conditions of the families, and consequently their quality of life, could be improved through investments in social policies, better transportation, educational and healthcare services, and human and material resources. Lastly, we recommend providing psychological support to all family members to enhance emotional well-being and strengthen family resilience.