The impact of a child’s inborn error of metabolism: the parents’ perspectives on restrictions, discrimination, family planning, and emergency management
From the parents' perspective, the intensity of restrictions increased with the severity of the child's IEM. The study shows the high impact of IEM on parents of children with IEM and the daily challenges they face. These findings emphasize the importance of comprehensive support for parents of children with IEM.
Authors
- Wieland Kieß (ORCID: https://orcid.org/0000-0003-4118-9455)
- Thilo Bertsche (ORCID: https://orcid.org/0000-0002-4930-6655)
- Alena Gerlinde Thiele (ORCID: https://orcid.org/0000-0003-2880-1355)
- Astrid Bertsche (ORCID: https://orcid.org/0000-0003-2832-0156)
- Skadi Beblo
- Martina Patrizia Neininger (ORCID: https://orcid.org/0000-0002-5208-0888)
- Simone Eisenhofer (ORCID: https://orcid.org/0000-0001-7206-7384)
- Tanjana Harings (ORCID: https://orcid.org/0009-0002-2721-1775)
Institutions
- Universitätsmedizin Greifswald (DE)
- University Hospital Leipzig (DE)
- Leipzig University (DE)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-08-26
- DOI
- https://doi.org/10.1186/s13023-024-03315-6
- Citations
- 2
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.76