Abstract
PurposeThis 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.MethodsConcept 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.ResultsThirty-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.ConclusionThe 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.
Highlights
Achondroplasia is the most common form of dwarfism, affecting more than 250,000 people worldwide with an incidence of between 1/10,000 and 1/30,000 live births [1]
Six experts were clinical/medical experts in achondroplasia, and one expert was a leader in an achondroplasia advocacy group
Experts worked in academic hospitals (33%, n = 2), public/other hospitals (33%, n = 2), a clinic (17%, n = 1), or were recently retired (17%, n = 1)
Summary
Achondroplasia is the most common form of dwarfism, affecting more than 250,000 people worldwide with an incidence of between 1/10,000 and 1/30,000 live births [1]. The condition results from a mutation in the FGFR3 gene, Jill Gianettoni: Affiliation when research was conducted. Frequent complications of achondroplasia in childhood include recurrent ear infections, sleep apnea, hearing loss, teeth crowding/misalignment, and speech delay [4, 5]. Legs, and joints, respiratory issues, spinal stenosis resulting in neurological symptoms (e.g., tingling/ numbness in extremities), hydrocephalus, and foramen magnum compression may occur [4, 5]. Common complications in adulthood include obstructive sleep apnea, spinal stenosis, overweight/obesity, chronic back/leg pain,. Quality of Life Research (2021) 30:203–215 hearing impairment, and respiratory problems [1, 3, 4, 6, 7]. There is currently no treatment for achondroplasia, clinical management guidelines are well established and new treatments are currently in development [1, 3, 5, 8,9,10]
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