Experiences of children and adolescents living with achondroplasia and their caregivers.
achondroplasia
quality of life
skeletal dysplasia
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
revised:
23
12
2021
received:
26
06
2021
accepted:
13
01
2022
pubmed:
10
2
2022
medline:
14
4
2022
entrez:
9
2
2022
Statut:
ppublish
Résumé
Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), leads to significant multisystem complications across the lifespan that may affect the health-related quality of life (HRQoL) of individuals and families living with the condition. The objective of this qualitative study was to describe the HRQoL of children and adolescents with achondroplasia and their caregivers. Thirty-four caregivers and 12 adolescents from the United States and Spain participated in one of eight focus groups or completed an individual interview, which was audio-recorded and transcribed. Thematic analysis of qualitative data was performed to identify commonly occurring themes pertaining to HRQoL. Caregivers and adolescents described challenges with physical functioning and medical complications due to achondroplasia. Key challenges included difficulties performing activities of daily living, issues of accessibility, bullying, or unwanted attention in public, and negative effects on self-esteem. Caregivers were concerned about accessing appropriate medical care for their child, and also reported experiencing financial, relational, and emotional challenges in their families. Achondroplasia also affected individuals and their families in positive ways, including increasing empathy, receiving positive attention, and feeling supported by the achondroplasia community. These findings underscore the importance of regular assessments of HRQoL and the provision of psychosocial support to affected children and families.
Sections du résumé
BACKGROUND
Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), leads to significant multisystem complications across the lifespan that may affect the health-related quality of life (HRQoL) of individuals and families living with the condition.
METHODS
The objective of this qualitative study was to describe the HRQoL of children and adolescents with achondroplasia and their caregivers. Thirty-four caregivers and 12 adolescents from the United States and Spain participated in one of eight focus groups or completed an individual interview, which was audio-recorded and transcribed. Thematic analysis of qualitative data was performed to identify commonly occurring themes pertaining to HRQoL.
RESULTS
Caregivers and adolescents described challenges with physical functioning and medical complications due to achondroplasia. Key challenges included difficulties performing activities of daily living, issues of accessibility, bullying, or unwanted attention in public, and negative effects on self-esteem. Caregivers were concerned about accessing appropriate medical care for their child, and also reported experiencing financial, relational, and emotional challenges in their families. Achondroplasia also affected individuals and their families in positive ways, including increasing empathy, receiving positive attention, and feeling supported by the achondroplasia community.
CONCLUSIONS
These findings underscore the importance of regular assessments of HRQoL and the provision of psychosocial support to affected children and families.
Identifiants
pubmed: 35138050
doi: 10.1002/mgg3.1891
pmc: PMC9000943
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1891Informations de copyright
© 2022 BioMarin Pharmaceutical Inc. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
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