Peer-reviewed article
Assessing the impacts of having a child with achondroplasia on parent well-being
Kathryn M. Pfeiffer, Meryl I. Brod, Alden Raymond Smith, Jill Gianettoni, Dorthe Viuff et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This study explored the experiences of parents of children with achondroplasia (a genetic condition causing dwarfism) through interviews with 36 parents in the United States and Spain. The research identified four main areas where parents are impacted: managing their child's medical care and daily needs, emotional stress and worry, family strain, and work disruptions. The findings were used to develop a new questionnaire tool to measure these parent impacts. A follow-up validation study of the new tool is recommended.
Key points
- 92% of parents reported managing their child's medical care as a caretaking responsibility
- 75% of parents experienced worry about the future and 67% worried about their child's physical health
- 56% reported family strain and 50% experienced missed work time
- Four domains of impact identified: caretaking responsibilities, emotional well-being, family, and work
- Results informed development of the Achondroplasia Parent Experience Measure (APEM)
Limitations
This study measures parent experiences rather than child well-being outcomes directly. The research does not evaluate the effectiveness of any intervention to improve either parent or child well-being.
Abstract
PURPOSE: This study's purpose was to develop a better understanding of the experiences of parents of children with achondroplasia and to provide qualitative evidence to support the development of a patient-reported outcome (PRO) measure of parent impacts. METHODS: Concept elicitation (CE) individual/focus group interviews were conducted with parents of children aged 2 to < 12 years with achondroplasia in the United States and Spain. The qualitative analysis informed the PRO measure development. Cognitive debriefing (CD) interviews were conducted to ensure parent understanding and item relevance. RESULTS: Thirty-six parents participated in individual/focus group CE interviews. The analysis identified parent impacts in four domains, including caretaking responsibilities, emotional well-being, family, and work, and results informed the development of the Achondroplasia Parent Experience Measure (APEM). Caretaking responsibilities included managing child's medical care (92%), helping child with self-care (67%), advocating for child (64%), assisting child (56%), and observing/monitoring child (e.g., to ensure safety; 47%). Impacts on parents' emotional well-being included worry about the future (75%), worry about child's physical health (67%), safety concerns (50%), feeling stressed/overwhelmed (44%), and worry about child's social relationships (42%). Impacts on family and work included family strain (56%), limiting/adapting family activities (42%), and missed work time (50%). CD interviews with an additional 16 parents of children with achondroplasia confirmed understanding and item relevance. CONCLUSION: The results improve our understanding of the experiences of parents of children with achondroplasia and provide qualitative evidence to support the content validity of the APEM. A psychometric study is needed to validate the measure.