Health-Related Quality of Life and Fatigue in Children with Pompe Disease

Objective: Pompe disease is an inheritable metabolic myopathy caused by the deficiency of the lysosomal enzyme acid-⍺-glucosidase. The aim of this study was to investigate self-reported and parent-reported health related quality of life (HR-QOL) and fatigue in children with Pompe disease. Study design: In this cross-sectional study, the validated Child Health Questionnaire and PedsQL Multidimensional Fatigue Scale were used to respectively measure (both self-reported and parent-reported) HR-QOL and fatigue in children with Pompe disease. Results: In total, of 24 patients with Pompe disease (and their parents) participated, with a median age of 9.6 years [IQR 7.7-11.9], 14 had classic infantile Pompe disease. Self-reported HR-QOL was comparable with the healthy Dutch population on most domains, and patients with the classic infantile type scored mainly lower on physical functioning. Parents of patients with classic infantile Pompe disease reported a significantly lower HR-QOL of their children on 9 domains and parents of patients with (non-classic) childhood-onset Pompe disease on 5 domains. Self-reported fatigue levels in children with classic infantile Pompe disease were increased for 2 of 3 domains compared with healthy peers, and fatigue in patients with non-classic Pompe disease did not differ. Parents of patients with classic infantile Pompe disease reported greater levels of fatigue in all 3 domains compared with healthy children, whereas parents of children with childhood-onset disease scored greater on the cognitive fatigue domain. Conclusions: Children with Pompe disease report comparable HR-QOL on most domains compared with healthy peers. Contrarily, parent-reported HR-QOL was substantially lower on most domains compared with references values. As expected in relation to disease severity, unfavorable effects on HR-QOL and fatigue were more pronounced in patients with classic infantile Pompe disease.