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 desi...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | Journal of Pediatrics: Clinical Practice |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S295054102400022X |
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| author | Linda E. Scheffers Karolijn Dulfer, PhD Charlotte Lanser Maarten Mackenbach, MD Ans T. van der Ploeg, MD, PhD Johanna M.P. van den Hout, MD, PhD Linda E. van den Berg, MD, PhD |
| author_facet | Linda E. Scheffers Karolijn Dulfer, PhD Charlotte Lanser Maarten Mackenbach, MD Ans T. van der Ploeg, MD, PhD Johanna M.P. van den Hout, MD, PhD Linda E. van den Berg, MD, PhD |
| author_sort | Linda E. Scheffers |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c5be68c4b3fc4ed89f6e6f175cfcef4c |
| institution | OA Journals |
| issn | 2950-5410 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Pediatrics: Clinical Practice |
| spelling | doaj-art-c5be68c4b3fc4ed89f6e6f175cfcef4c2025-08-20T01:56:24ZengElsevierJournal of Pediatrics: Clinical Practice2950-54102024-12-011420011610.1016/j.jpedcp.2024.200116Health-Related Quality of Life and Fatigue in Children with Pompe DiseaseLinda E. Scheffers0Karolijn Dulfer, PhD1Charlotte Lanser2Maarten Mackenbach, MD3Ans T. van der Ploeg, MD, PhD4Johanna M.P. van den Hout, MD, PhD5Linda E. van den Berg, MD, PhD6Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The NetherlandsDivision of Paediatric Intensive Care, Department of Pediatric and Neonatal Intensive Care, Erasmus MC-Sophia Children's Hospital, Rotterdam, The NetherlandsDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The NetherlandsDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The NetherlandsDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The NetherlandsDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The NetherlandsDepartment of Orthopedics and Sports Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Reprint requests: Linda E. van den Berg, MD, PhD, Erasmus MC University Medical Center, Doctor Molewaterplein 40, Rotterdam 3015 GD, The Netherlands.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.http://www.sciencedirect.com/science/article/pii/S295054102400022XPompe diseaseglycogen storage disorder type IIquality of lifefatigueHR-QOL |
| spellingShingle | Linda E. Scheffers Karolijn Dulfer, PhD Charlotte Lanser Maarten Mackenbach, MD Ans T. van der Ploeg, MD, PhD Johanna M.P. van den Hout, MD, PhD Linda E. van den Berg, MD, PhD Health-Related Quality of Life and Fatigue in Children with Pompe Disease Journal of Pediatrics: Clinical Practice Pompe disease glycogen storage disorder type II quality of life fatigue HR-QOL |
| title | Health-Related Quality of Life and Fatigue in Children with Pompe Disease |
| title_full | Health-Related Quality of Life and Fatigue in Children with Pompe Disease |
| title_fullStr | Health-Related Quality of Life and Fatigue in Children with Pompe Disease |
| title_full_unstemmed | Health-Related Quality of Life and Fatigue in Children with Pompe Disease |
| title_short | Health-Related Quality of Life and Fatigue in Children with Pompe Disease |
| title_sort | health related quality of life and fatigue in children with pompe disease |
| topic | Pompe disease glycogen storage disorder type II quality of life fatigue HR-QOL |
| url | http://www.sciencedirect.com/science/article/pii/S295054102400022X |
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