Interventions for improving clinical outcomes and health-related quality-of-life for people living with skeletal dysplasias: an evidence gap map

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Abstract

Purpose

Skeletal dysplasias are rare genetic disorders that are characterized by abnormal development of bone and cartilage. There are multiple medical and non-medical treatments for specific symptoms of skeletal dysplasias e.g. pain, as well as corrective surgical procedures to improve physical functioning. The aim of this paper was to develop an evidence-gap map of treatment options for skeletal dysplasias, and their impact on patient outcomes.

Methods

We conducted an evidence-gap map to identify the available evidence on the impact of treatment options on people with skeletal dysplasias on clinical outcomes (such as increase in height), and dimensions of health-related quality of life. A structured search strategy was applied to five databases. Two reviewers independently assessed articles for inclusion in two stages: titles and abstracts (stage 1), and full text of studies retained at stage 2.

Results

58 studies fulfilled our inclusion criteria. The included studies covered 12 types of skeletal dysplasia that are non-lethal with severe limb deformities that could result in significant pain and numerous orthopaedic interventions. Most studies reported on the effect of surgical interventions ( n = 40, 69%), followed by the effect of treatments on dimensions of health quality-of-life ( n = 4, 6.8%) and psychosocial functioning ( n = 8, 13.8%).

Conclusion

Most studies reported on clinical outcomes from surgery for people living with Achondroplasia. Consequently, there are gaps in the literature on the full range of treatment options (including no active treatment), outcomes and the lived experience of people living with other skeletal dysplasias. More research is warranted to examine the impact of treatments on health-related quality-of-life of people living with skeletal dysplasias, including their relatives to enable them to make preference- and valued based decisions about treatment.

Supplementary Information

The online version contains supplementary material available at 10.1007/s11136-023-03431-z.

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Most cited references 83

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Scoping reviews, a type of knowledge synthesis, follow a systematic approach to map evidence on a topic and identify main concepts, theories, sources, and knowledge gaps. Although more scoping reviews are being done, their methodological and reporting quality need improvement. This document presents the PRISMA-ScR (Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews) checklist and explanation. The checklist was developed by a 24-member expert panel and 2 research leads following published guidance from the EQUATOR (Enhancing the QUAlity and Transparency Of health Research) Network. The final checklist contains 20 essential reporting items and 2 optional items. The authors provide a rationale and an example of good reporting for each item. The intent of the PRISMA-ScR is to help readers (including researchers, publishers, commissioners, policymakers, health care providers, guideline developers, and patients or consumers) develop a greater understanding of relevant terminology, core concepts, and key items to report for scoping reviews.

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Author and article information

Contributors

Francesco Paolucci:

ORCID: http://orcid.org/0000-0001-6173-5324

francesco.paolucci6@unibo.it

Journal

Journal ID (nlm-ta): Qual Life Res

Journal ID (iso-abbrev): Qual Life Res

Title: Quality of Life Research

Publisher: Springer International Publishing (Cham )

ISSN (Print): 0962-9343

ISSN (Electronic): 1573-2649

Publication date (Electronic): 9 June 2023

Publication date PMC-release: 9 June 2023

Publication date (Print): 2023

Volume: 32

Issue: 10

Pages: 2751-2762

Affiliations

[1 ]GRID grid.6292.f, ISNI 0000 0004 1757 1758, Department of Sociology and Business Law, , University of Bologna, ; Bologna, Italy

[2 ]GRID grid.42629.3b, ISNI 0000000121965555, Department of Midwifery, Nursing and Health, Faculty of Health and Life Sciences, , Northumbria University, ; Newcastle upon Tyne, UK

[3 ]GRID grid.1003.2, ISNI 0000 0000 9320 7537, Centre for the Business and Economics of Health, , The University of Queensland, ; Brisbane, Australia

[4 ]GRID grid.1006.7, ISNI 0000 0001 0462 7212, Health Economics Group, , Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, ; Newcastle upon Tyne, UK

[5 ]GRID grid.266842.c, ISNI 0000 0000 8831 109X, Newcastle Business School, Faculty of Business and Law, , University of Newcastle, ; Callaghan, Australia

Author information

Francesco Paolucci http://orcid.org/0000-0001-6173-5324

Article

Publisher ID: 3431

DOI: 10.1007/s11136-023-03431-z

PMC ID: 10474209

PubMed ID: 37294397

SO-VID: a9d25758-9980-4edb-81b8-717c92a9f97b

License:

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

History

Date accepted : 25 April 2023

Funding

Funded by: FundRef http://dx.doi.org/10.13039/100010663, H2020 European Research Council;

Award ID: 754825

Award Recipient : Luke Vale Francesco Paolucci

Funded by: Alma Mater Studiorum - Università di Bologna

Open Access :

Open access funding provided by Alma Mater Studiorum - Università di Bologna within the CRUI-CARE Agreement.

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ScienceOpen disciplines: Public health

Keywords: skeletal dysplasia,evidence gap map,clinical outcomes,quality-of-life,psychosocial functioning

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ScienceOpen disciplines: Public health

Keywords: skeletal dysplasia, evidence gap map, clinical outcomes, quality-of-life, psychosocial functioning

Interventions for improving clinical outcomes and health-related quality-of-life for people living with skeletal dysplasias: an evidence gap map

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Abstract

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Most cited references 83

PRISMA Extension for Scoping Reviews (PRISMA-ScR): Checklist and Explanation

The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection.

Traumatic arthritis of the hip after dislocation and acetabular fractures: treatment by mold arthroplasty. An end-result study using a new method of result evaluation.

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