ArticleOrphanet journal of rare diseases2021
A qualitative study of the impacts of having an infant or young child with achondroplasia on parent well-being.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- Lived experiences in rare genetic diseases: a narrative synthesis of 317 qualitative studies (2004-2024).European journal of human genetics : EJHG · 2026Review
- Development and pilot testing of the quality of life of parents of children with achondroplasia questionnaire.Journal of patient-reported outcomes · 2026Article
- Qualitative Research in Children and Parents of Children with Achondroplasia to Evaluate the Content Validity of Multiple Clinical Outcome Assessments.Advances in therapy · 2026Article
- Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America.Genetics in medicine open · 2024Article
- Parents' Experience of Administering Vosoritide: A Daily Injectable for Children with Achondroplasia.Advances in therapy · 2023Article
- Australian guidelines for the management of children with achondroplasia.Journal of paediatrics and child health · 2023Article
- Prevalence of depression and anxiety, and their relationship to social support among patients and family caregivers of rare bone diseases.Orphanet journal of rare diseases · 2023Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCurrently, there is limited research on how having a child diagnosed with achondroplasia affects parents' lives. The purpose of the study was to investigate the experiences of parents of infants and young children less than two years of age with achondroplasia.
methodsConcept elicitation interviews were conducted with parents of children less than 2 years of age with achondroplasia in the United States and Spain. Using grounded theory methods modified for health outcomes research, a qualitative analysis of interview transcripts was conducted. Based on the qualitative analysis, a preliminary theoretical model of the experiences of parents of infants and young children with achondroplasia was developed.
resultsFifteen parents, including 14 mothers and 1 father from 15 unique families, participated in individual or focus group concept elicitation interviews in the US (n = 9) and Spain (n = 6). The qualitative analysis identified four key parent impact domains, which included caretaking responsibilities, impacts on emotional well-being, having worries and concerns about their child, and impacts on daily well-being. Frequently discussed caretaking responsibilities among parents were managing child's medical care/treatment (93%), obtaining adaptations/items for child (73%), and monitoring child to avoid complications of achondroplasia (67%). Emotional impacts included feeling stressed/overwhelmed (67%), depressed/sad (40%), and anxious/nervous (33%). Worries and concerns included worry/concern about the future (100%), concerns regarding child's physical health (87%), worry about child's social well-being (80%), concern for child's emotional well-being (73%), and worry about child being able to function independently (67%). Daily well-being impacts included family strain (60%), missed work time (47%), and missed/limited social activities (33%). Based on the qualitative findings, a preliminary theoretical model depicting the experiences of parents of infants and young children with achondroplasia was created.
conclusionsThe study sheds light on the range of impacts that parents of infants and young children with achondroplasia may experience, including caretaking responsibilities, impacts on emotional well-being, worries/concerns regarding their child, and impacts on daily well-being. The theoretical model of parent experiences may provide a helpful framework for informing future research and clinical practice.
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