Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study
Adults with skeletal dysplasia appear to have an increased risk for mental health issues and reduced physical functioning, which may impact HRQOL. These findings underscore the importance of including a formal assessment of mental health, pain and daily activities as part of regular medical follow-up across the lifespan in these patients.
Authors
- Svein O. Fredwall (ORCID: https://orcid.org/0000-0002-2804-5783)
- Sandra McDonald (ORCID: https://orcid.org/0000-0002-6241-0772)
- Su Htwe
- Elisabeth Fagereng (ORCID: https://orcid.org/0000-0003-2069-0638)
- Erin M. Carter (ORCID: https://orcid.org/0009-0007-8754-6354)
- Martin Wright (ORCID: https://orcid.org/0009-0000-0820-6829)
- Cathleen Raggio
- Chloe Derocher (ORCID: https://orcid.org/0009-0006-7333-9859)
- Marta Bértoli
- Anne‐Mette Bredahl
- Taran Youssefian Blakstvedt
Institutions
- Hospital for Special Surgery (US)
- Sunnaas sykehus (NO)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Newcastle University (GB)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-03-11
- DOI
- https://doi.org/10.1186/s13023-025-03610-w
- Citations
- 3
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 5.45