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 (CHQ) and PedsQol multidimensional fatigue scale (PedsQol MFS) were used to respectively measure (both self-reported and parent-reported) HR-QOl and fatigue in children with Pompe disease. Results In total, 24 Pompe patients 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 to the healthy Dutch population on most domains, classic infantile patients scored mainly lower on physical functioning. Parents of classic infantile patients reported a significantly lower HR-QOL of their children on 9 domains, parents of non-classic patients on 5 domains.Self-reported fatigue levels in children with classic infantile Pompe disease were increased for 2 of 3 domains compared to healthy peers, fatigue in non-classic infantile Pompe patients did not differ. Parents of classic infantile patients reported higher levels of fatigue in all 3 domains compared to healthy children, whereas parents of childhood onset children scored higher on the cognitive fatigue domain. Conclusion Children with Pompe disease report comparable HR-QOL on most domains compared to healthy peers. Contrarily, parent-reported HR-QOL was substantially lower on most domains compared to references values. As expected in relation to disease severity, unfavorable effects on HR-QOL and fatigue were more pronounced in classic infantile Pompe patients.