Journal: American Journal of Medical Genetics Part A, 188A:454-462.
Authors: Pfeiffer, K. M., Brod, M., Smith, A., Viuff, D., Ota, S., & Charlton, R. W. (2022).
License and source: This article is licensed under the Creative Commons Attribution 4.0 International License (CC BY 4.0).
https://creativecommons.org/licenses/by/4.0/
Original publication available via PubMed
AI Disclosure: The original publication is unmodified. The Summary and Key Takeaways were generated with the assistance of AI and reviewed by the Care4Bones team. They are provided for informational and educational purposes only and do not replace the original publication or professional medical advice.
Summary: This qualitative study interviewed 32 children and adolescents (ages 9–17) with achondroplasia in the US and Spain to examine how the condition affects daily functioning and well-being. Five impact domains emerged: physical health, functioning, school, emotional well‑being, and social well‑being. Common physical issues included pain (especially back and joints), low stamina, and dental crowding. Functional challenges involved needing adaptive devices, difficulty reaching, walking long distances, and requiring help with tasks. Emotional effects included feeling different, worried, or embarrassed. Social and school impacts included trouble in sports/PE, being treated as younger, teasing, and needing school accommodations. A preliminary theoretical model and implications for clinical care and future research were developed.
Key Takeaways
This article will provide valuable insights into:
- Most participants reported pain (91%) and low stamina (81%), affecting daily life.
- All participants used adaptive devices; 84% had trouble reaching high objects.
- Emotional impacts (feeling different, worried, embarrassed) were common across ages.
- School issues—especially P.E. participation and accommodations—were frequent (≈81–88%).
- Findings produced a preliminary theoretical model to guide future research and clinical practice.