Family well-being in families with children and young people with Wolf-Hirschhorn Syndrome

Abstract

Background

Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disorder characterized by intellectual and physical disabilities. Families with a child affected by WHS face unique challenges that impact their quality of life. Understanding Family Quality of Life (FQoL) is crucial to developing effective support strategies.

Aim

The aim of this study was to evaluate FQoL in Spanish families with children diagnosed with WHS and to explore its relationship with sociodemographic factors and clinical characteristics, such as the size of genetic deletion.

Methods

A descriptive, exploratory study was conducted with 34 parents of children with WHS, representing 50 % of the registered WHS families in Spain. The Family Quality of Life Survey (BCFQOL, 2003) was used to evaluate both satisfaction as importance regarding the five key dimensions of FQoL: emotional well-being, support and resources, family interaction, parental role, and physical/material well-being.

Results

Families reported a higher importance than satisfaction in all dimensions of the FQoL. Family interaction received the highest satisfaction score (M = 4.09), while emotional well-being was the most affected (M = 3.02). No significant correlations were found between FQoL and genetic or sociodemographic variables. Only 27 % of the families expressed overall satisfaction with their FQoL, with stress relief and time availability being major concerns.

Conclusions

Emotional well-being is the most affected dimension in families with WHS children. There is a need for tailored support programs focusing on emotional and stress relief interventions. Strengthening family interactions and external support systems is crucial for improving FQoL.