Academic Journal
Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers
| العنوان: | Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers |
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| المؤلفون: | Truninger, Moritz Ilan, Werner, Helene, Landolt, Markus A, Hahn, Andreas, Hennermann, Julia B, Lagler, Florian B, Möslinger, Dorothea, Pfrimmer, Charlotte, Rohrbach, Marianne, Huemer, Martina |
| المصدر: | Truninger, Moritz Ilan; Werner, Helene; Landolt, Markus A; Hahn, Andreas; Hennermann, Julia B; Lagler, Florian B; Möslinger, Dorothea; Pfrimmer, Charlotte; Rohrbach, Marianne; Huemer, Martina (2024). Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers. Orphanet Journal of Rare Diseases, 19(1):358. |
| بيانات النشر: | BioMed Central |
| سنة النشر: | 2024 |
| المجموعة: | University of Zurich (UZH): ZORA (Zurich Open Repository and Archive |
| مصطلحات موضوعية: | Medical Clinic, Institute of Psychology, 150 Psychology, 610 Medicine & health, Health-related quality of life, Functioning, disability, and health, Pediatric patients, Qualitative analysis, Content analysis, Concept elicitation interviews, Content validity, Lysosomal storage diseases, Inborn errors of metabolism, Muscle weakness |
| الوصف: | Background Children and adolescents with Pompe disease (PD) face chronic and progressive myopathy requiring time-intensive enzyme replacement therapy (ERT). Little is known about their perspectives on the disease and its treatment. This study explored their perceptions of disease symptoms and functioning status, and more subjective feelings about the impacts on their lives as part of developing a disease-specific questionnaire. Methods Eleven pediatric patients aged 8–18 years and 26 caregivers from six children’s hospitals in Germany, Austria, and Switzerland underwent semi-structured interviews. Data were recorded, transcribed using MAXQDA software, and analyzed using qualitative content analysis. A system of meaningful categories was developed. Results Sixteen main categories were derived across four major thematic areas: perceptions of symptoms and limitations, experiences to do with the biopsychosocial impact of PD, treatment experiences, and general emotional well-being/burden. Participants demonstrated broad heterogeneity in symptom perceptions such as muscle weakness, breathing difficulties, pain, and fatigue. Emotional appraisals of limitations were not directly proportional to their severity, and even comparatively minor impairments were often experienced as highly frustrating, particularly for social reasons. The main psychosocial topics were social exclusion vs. inclusion and experiences to do with having a disease. The main finding regarding treatment was that switching ERT from hospital to home was widely viewed as a huge relief, reducing the impact on daily life and the burden of infusions. Emotional well-being ranged from not burdened to very happy in most children and adolescents, including the most severely affected. Conclusion This study provided qualitative insights into the perceptions and experiences of pediatric PD patients. Interestingly, biopsychosocial burden was not directly related to disease severity, and tailored psychosocial support could improve health-related quality of life. The ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1750-1172 |
| Relation: | https://www.zora.uzh.ch/id/eprint/262552/1/Truniger_et_al__2024_Orphanet.pdf; info:pmid/39342352; urn:issn:1750-1172 |
| الاتاحة: | https://www.zora.uzh.ch/id/eprint/262552/ https://www.zora.uzh.ch/id/eprint/262552/1/Truniger_et_al__2024_Orphanet.pdf |
| Rights: | info:eu-repo/semantics/openAccess ; Creative Commons: Attribution 4.0 International (CC BY 4.0) ; http://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: | edsbas.CCB6AC13 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 17501172 |
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