Experiences of children and adolescents living with achondroplasia and their caregivers.

ABSTRACT:

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 adolesc

SUBMITTER: Shediac R 

PROVIDER: S-EPMC9000943 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature