Interventions for improving clinical outcomes and health-related quality-of-life for people living with skeletal dysplasias: an evidence gap map.
Clinical outcomes
Evidence gap map
Psychosocial functioning
Quality-of-life
Skeletal dysplasia
Journal
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation
ISSN: 1573-2649
Titre abrégé: Qual Life Res
Pays: Netherlands
ID NLM: 9210257
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
accepted:
25
04
2023
medline:
4
9
2023
pubmed:
9
6
2023
entrez:
9
6
2023
Statut:
ppublish
Résumé
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. 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. 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%). 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.
Identifiants
pubmed: 37294397
doi: 10.1007/s11136-023-03431-z
pii: 10.1007/s11136-023-03431-z
pmc: PMC10474209
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
2751-2762Subventions
Organisme : H2020 European Research Council
ID : 754825
Informations de copyright
© 2023. The Author(s).
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