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. 2022 Apr;10(4):e1891.
doi: 10.1002/mgg3.1891. Epub 2022 Feb 9.

Experiences of children and adolescents living with achondroplasia and their caregivers

Renée Shediac  1 , Olga Moshkovich  2 , Heather Gerould  3 , Rachel Ballinger  4 , Agnes Williams  4 , M Alex Bellenger  2 , Jennifer Quinn  5 , Julie Hoover-Fong  6 , Klaus Mohnike  7 , Ravi Savarirayan  8 , Dominique Kelly  1
Affiliations

Experiences of children and adolescents living with achondroplasia and their caregivers

Renée Shediac et al. Mol Genet Genomic Med. 2022 Apr.

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 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.

Keywords: achondroplasia; quality of life; skeletal dysplasia.

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Conflict of interest statement

R. Shediac, J. Quinn, and D. Kelly are employees and shareholders of BioMarin Pharmaceutical Inc. J. Hoover‐Fong has received consulting fees from BioMarin, Therachon, and Ascendis, and grants from BioMarin. K. Mohnike has received honoraria from Biomarin, Kyowa Kirin, and Novo Nordisk and is a consultant for QED and investigator for Biomarin and Pfizer. R. Savarirayan has received consulting fees and grants from BioMarin, and consulting fees from Ascendis, QED, and Pfizer.

Figures

FIGURE 1
FIGURE 1
Themes and sub‐themes of experiences of children and adolescents with achondroplasia (ages 0–17 years). Bubble sizes are not reflective of frequency of mention
FIGURE 2
FIGURE 2
Themes and sub‐themes of caregivers' and families' experiences. Bubble sizes are not reflective of frequency of mention. HCPs, health care provider
See this image and copyright information in PMC

References

    1. Adler, K. , Salanterä, S. , & Zumstein‐Shaha, M. (2019). Focus group interviews in child, youth, and parent research: An integrative literature review. International Journal of Qualitative Methods, 18, 160940691988727. 10.1177/1609406919887274 - DOI
    1. Alade, Y. , Tunkel, D. , Schulze, K. , McGready, J. , Jallo, G. , Ain, M. , Yost, T. , & Hoover‐Fong, J. (2013). Cross‐sectional assessment of pain and physical function in skeletal dysplasia patients. Clinical Genetics, 84(3), 237–243. 10.1111/cge.12045 - DOI - PubMed
    1. Balci, H. I. , Kocaoglu, M. , Sen, C. , Eralp, L. , Batibay, S. G. , & Bilsel, K. (2015). Bilateral humeral lengthening in achondroplasia with unilateral external fixators: Is it safe and does it improve daily life? The Bone & Joint Journal, 97‐b(11), 1577–1581. 10.1302/0301-620x.97b11.36037 - DOI - PubMed
    1. Bloemeke, J. , Sommer, R. , Witt, S. , Bullinger, M. , Nordon, C. , Badia, F. J. , González, F. L. , Leiva‐Gea, A. , Delgado Rufino, F. B. , Mayoral‐Cleries, F. , Romero‐Sanchiz, P. , Clamagirand Saiz, V. , Nogueira‐Arjona, R. , Mohnike, K. , & Quitmann, J. (2019). Cross‐cultural selection and validation of instruments to assess patient‐reported outcomes in children and adolescents with achondroplasia. Quality of Life Research, 28(9), 2553–2563. 10.1007/s11136-019-02210-z - DOI - PubMed
    1. Bullinger, M. , Quitmann, J. , Power, M. , Herdman, M. , Mimoun, E. , DeBusk, K. , Feigerlova, E. , Lunde, C. , Dellenmark‐Blom, M. , Sanz, D. , Rohenkohl, A. , Pleil, A. , Wollmann, H. , & Chaplin, J. E. (2013). Assessing the quality of life of health‐referred children and adolescents with short stature: Development and psychometric testing of the QoLISSY instrument. Health and Quality of Life Outcomes, 11, 76. 10.1186/1477-7525-11-76 - DOI - PMC - PubMed

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