Health-Related Quality of Life Among Children with Neuromuscular Diseases in Georgia

Abstract

Background: Neuromuscular diseases (NMDs) are a broadly defined group of disorders affecting the peripheral nervous system. NMDs are characterized by their chronic nature, often progressive disability, significant comorbidities, and limited treatment options, all of which influence health-related quality of life (HRQL). Objectives: Our study aimed to evaluate HRQL in children with NMDs in Georgia. Methods: The study involved 51 patients aged 5 to 17 years. Patients and their parents were recruited through the physician network and rare disease organizations. HRQL was assessed using the standardized Patient-Reported Outcomes Measurement Information System (PROMIS). Five domains – anxiety, depression, fatigue, pain interference, and physical function – were evaluated using pediatric and parent proxy profile instruments. Intercorrelations were performed to examine the relationships between HRQL, demographic factors, and patient experiences with NMDs. Results: Mean HRQL scores were significantly poorer across all five PROMIS domains when compared to normative data, indicating substantial impairments among pediatric patients with NMDs. The intercorrelation analysis revealed significant associations between HRQL scores and various demographic and disease-specific factors, underscoring the diverse impact of NMDs on children's lives. Conclusions: Children with NMDs in Georgia experience significantly reduced HRQL. Our study underscores the necessity for comprehensive care approaches that address the psychological and physical challenges faced by these patients. Further research should investigate targeted interventions to enhance HRQL and establish support systems for individuals affected by these conditions.