ArticleBMC musculoskeletal disorders2020
Functioning and equality according to International Classification of Functioning, Disability and Health (ICF) in people with skeletal dysplasia compared to matched control subjects - a cross-sectional survey study.
Article in BMC musculoskeletal disorders, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Developing a standard dataset in the European registries for rare endocrine and bone conditions-a Melorheostosis dataset.Orphanet journal of rare diseases · 2025Article
- The use and experience of the national disability insurance scheme for Australians with skeletal dysplasia: a mixed-methods study.Orphanet journal of rare diseases · 2025Article
- Functional performance and symptomatology of adults with skeletal dysplasia across self-care, mobility, and cognition-a cross-sectional study.JBMR plus · 2025Article
- A systematic literature review of the impact and measurement of mobility impairment in rare bone diseases.Therapeutic advances in musculoskeletal disease · 2025Review
- Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study.Orphanet journal of rare diseases · 2023Article
- Towards an ICF-based self-report questionnaire for people with skeletal dysplasia to study health, functioning, disability and accessibility.Orphanet journal of rare diseases · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundSkeletal dysplasias are rare disorders often leading to severe short stature. This study aimed to gain new comprehensive information about functioning and equality in people affected by skeletal dysplasia compared to matched controls without skeletal dysplasia.
methodsFunctioning was assessed by questionnaire, which was formed by operationalizing International Classification of Functioning, Disability and Health (ICF) core set's categories into the items according to the ICF linking rules, using primarily Patient Reported Outcomes Measurement Information System PROMIS® - items.
resultsAltogether 80 subjects with skeletal dysplasia and 55 age-, gender- and place of residence -matched controls participated. People with skeletal dysplasia experienced more pain (p < 0.001) and the pain interfered more their daily lives (p = 0.037) compared to the controls. They had more problems related to musculoskeletal functions and exercise tolerance, difficulties in mobility, used more assistive products and technology and were more affected by climate and seasonal changes (p < 0.001). They met challenges in self-care, acquisition of goods and services and household tasks (p < 0.001) and in participating in close social relationships, leisure time activities (p < 0.001) and associations and organizational services (p = 0.007). They felt less satisfied with remunerative work (p = 0.003), felt more inequality (p = 0.008), met more negative attitudes of others (p < 0.001) and felt having less support given by family and friends (p = 0.022). They used more social and health services and experienced more dissatisfaction with those.
conclusionsOur study indicates that skeletal dysplasias restrict functioning extensively and significantly affect daily living. By building accessible environment and improving equal services, functioning could be improved.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.