Evidence map›Paper›PMID 40862204›Full record

ReviewTherapeutic advances in musculoskeletal disease2025

A systematic literature review of the impact and measurement of mobility impairment in rare bone diseases.

Inês Alves, Ingunn Westerheim, Edward C Hsiao, Jaymin Upadhyay, Luca Sangiorgi, Alexander Artyomenko, Kim Croskery, Juliet Johns, Emma Warnants, Gabor Barton

Abstract readReview
In one paragraph

Review in Therapeutic advances in musculoskeletal disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Inês AlvesSchool of Health and Human Development, Comprehensive Health Research Centre, University of Évora, Largo dos Colegiais 2, Évora 7004-516, Portugal.ORCID https://orcid.org/0000-0001-8963-4736
Ingunn WesterheimOsteogenesis Imperfecta Federation Europe, Heffen, Belgium.
Edward C HsiaoDivision of Endocrinology and Metabolism, The UCSF Metabolic Bone Clinic, The Eli and Edythe Broad Institute for Regeneration Medicine, The Institute of Human Genetics, Department of Medicine, The UCSF Program in Craniofacial Biology, University of California San Francisco, San Francisco, CA, USA.ORCID https://orcid.org/0000-0001-8924-106X
Jaymin UpadhyayDepartment of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Luca SangiorgiDepartment of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Alexander ArtyomenkoIpsen, Slough, UK.
Kim CroskeryIpsen, Slough, UK.
Juliet JohnsCostello Medical, London, UK.ORCID https://orcid.org/0009-0005-4361-2837
Emma WarnantsCostello Medical, London, UK.ORCID https://orcid.org/0000-0002-6183-4143
Gabor BartonResearch Institute for Sport and Exercise Sciences, Liverpool John Moores University, Liverpool, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Although rare bone diseases (RBDs) present mobility challenges, there is little consolidated evidence on evaluated mobility measurement tools or how mobility impairments impact daily activities and quality of life (QoL). Objectives and design: This systematic literature review investigated: (1) the impacts of mobility impairment on daily activities/QoL; (2) the suitability/comprehensiveness of tools measuring mobility. Data sources and methods: MEDLINE/Embase databases (January 19, 2022) and Google (October 19, 2022) were searched for articles published between 2011 and 2022; conference proceedings from 2020 to 2021 were hand-searched. Included articles reported on how mobility impairments impact daily activities/QoL, or the use of tools for measuring mobility, in RBDs. A narrative analysis using descriptive statistics was conducted. Studies were assessed for risk of bias using The Alberta Heritage Foundation for Medical Research Quality Assessment Criteria and National Institute of Health Quality Assessment Tool for Case Series Studies. Results: Inclusion criteria were met by 113 articles, investigating 39 RBDs (sample sizes: Conclusion: Few tools comprehensively captured mobility impairments and associated impacts on daily activities/QoL. Consistent reporting of tools' validity/reliability/responsiveness would support clinicians in selecting methods for use across RBD populations. Used remotely, wearables could support understanding of real-world mobility challenges. Since searches were conducted, additional technologies (e.g., remote gait analysis) have been tested in RBDs, although validation is required. Protocol PROSPERO registration: CRD42022311513. Sponsored by Ipsen.

Indexed as

burden of diseasefunctioningmobility impairmentquality of liferare boneskeletal dysplasia

Identifiers

PMID40862204
PMCPMC12374048

What OpenQuestion holds

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LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.