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Lookup NU author(s): Sam McDonald, Dr Marta Bertoli
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© The Author(s) 2025.Background: This cross-sectional study investigated mental health conditions, physical functioning, and health-related quality of life (HRQOL) in adults with short-statured skeletal dysplasia conditions across three centres; in New York, Newcastle-upon-Tyne and Norway. Methods: Questionnaires were sent to patients registered at the centres or distributed to adults attending clinics. The questionnaires included demographics, medical history, depression (PHQ-8), anxiety (GAD-7), pain catastrophizing, activities of daily living (HAQ), and HRQOL (SF 36/RAND-36 and PROMIS-29). Results: Of the 142 participants, 62 (44%) had achondroplasia (n = 59) or hypochondroplasia (n = 3), and 80 (56%) had other skeletal dysplasia conditions (OSD), the largest groups being multiple epiphyseal dysplasia (n = 14), diastrophic dysplasia (n = 9), spondyloepiphyseal dysplasia congenita (n = 9) and pseudoachondroplasia (n = 8). Mean age was 41 (range 18–80) years. A prior psychiatric diagnosis was reported by 36%. Clinically significant symptoms of depression (PHQ-8 score ≥ 10) and anxiety (GAD-7 score ≥ 10) were reported by 23% and 13%. Almost all (99%) reported pain, while 9% had clinically significant levels of pain catastrophizing. For daily activities, the most affected domains were activities, reach and walking. The prevalence of current depression and anxiety symptoms was considerably higher in the study population than in the general US population. Participants with OSD reported more psychiatric diagnoses, depression and anxiety symptoms, more pain and challenges in performing daily activities, and lower HRQOL compared to participants with achondroplasia/hypochondroplasia. Conclusion: 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.
Author(s): Fagereng E, Htwe S, McDonald S, Derocher C, Bertoli M, Carter E, Bredahl A-M, Blakstvedt T, Wright M, Raggio C, Fredwall S
Publication type: Article
Publication status: Published
Journal: Orphanet Journal of Rare Diseases
Year: 2025
Volume: 20
Issue: 1
Online publication date: 11/03/2025
Acceptance date: 13/02/2025
Date deposited: 08/04/2025
ISSN (electronic): 1750-1172
Publisher: BioMed Central Ltd
URL: https://doi.org/10.1186/s13023-025-03610-w
DOI: 10.1186/s13023-025-03610-w
Data Access Statement: The data that support the findings of this study are not publicly available due to ethical and confidentiality concerns. The data from the current study are available from the corresponding author on reasonable request.
PubMed id: 40069831
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