Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers
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 present findings ensure the content validity of a novel questionnaire to be tested as a screening tool to identify patients in need of such support.
Authors
- Dorothea Möslinger
- Helene Werner (ORCID: https://orcid.org/0000-0002-7081-7695)
- Charlotte Pfrimmer
- Marianne Rohrbach (ORCID: https://orcid.org/0000-0002-4013-6012)
- Martina Huemer (ORCID: https://orcid.org/0000-0002-0590-678X)
- Andreas Hahn (ORCID: https://orcid.org/0000-0001-8459-6582)
- Julia B. Hennermann (ORCID: https://orcid.org/0000-0003-2639-1233)
- Florian B. Lagler (ORCID: https://orcid.org/0000-0002-1439-6961)
- Markus A. Landolt (ORCID: https://orcid.org/0000-0003-0760-5558)
- Moritz Ilan Truninger (ORCID: https://orcid.org/0000-0001-6724-5019)
Institutions
- Johannes Gutenberg University Mainz (DE)
- Justus-Liebig-Universität Gießen (DE)
- University of Zurich (CH)
- Paracelsus Medical University (AT)
- University Medical Center of the Johannes Gutenberg University Mainz (DE)
- IVF Centers Prof. Zech (AT)
- University Children's Hospital Zurich (CH)
- Vorarlberg University of Applied Sciences (AT)
- Medical University of Vienna (AT)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-09-28
- DOI
- https://doi.org/10.1186/s13023-024-03368-7
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33
Funders
- Sanofi