Caring for a Child with Cornelia de Lange Syndrome in Brazil: What Families in Brazil Taught Us

What is it about?

Cornelia de Lange Syndrome (CdLS) is a rare, multisystem genetic disorder that affects physical development, cognitive function, behavior, and social adaptation. Children with CdLS often have intellectual disabilities, limb malformations, congenital heart defects, communication challenges, and self-injurious behavior. These conditions require high levels of care and support, placing a significant burden on families. While most studies focus on the medical aspects of CdLS, little is known about its broader impact on family well-being—especially in low- and middle-income countries. This is the first study worldwide to assess Family Quality of Life (FQoL) in families raising children with CdLS in Brazil. We interviewed 70 families across 15 Brazilian states, using validated instruments—including the Beach Center Family Quality of Life Scale—to evaluate five key domains: family interaction, parenting, emotional well-being, physical/material well-being, and disability-related support. We explored how sociodemographic factors (such as parental education, income, and marital status) and clinical characteristics of the child (such as mobility, heart disease, and communication ability) influence families’ overall perception of quality of life. The study offers a comprehensive understanding of how caring for a child with CdLS affects the entire family—emotionally, socially, and economically.

Featured Image

Photo by Roberto Nickson on Unsplash

Photo by Roberto Nickson on Unsplash

Why is it important?

Families caring for a child with a rare condition like CdLS often face significant emotional and financial challenges, particularly in countries with limited public resources. In our study, although families reported strong cohesion and parenting involvement, they also showed lower satisfaction in emotional and material well-being. We found that living with a partner, higher paternal education, and absence of congenital heart disease in the child were associated with higher FQoL scores. In contrast, low income, lack of private health insurance, and high caregiving demands were linked to lower quality of life. These results highlight the critical role of social and structural factors in shaping family well-being—often more so than the clinical severity of the child’s condition. This calls for a systemic approach to family care in the context of rare diseases.

Perspectives