ArticleAmerican journal of medical genetics. Part A2022
Functioning and well-being in older children and adolescents with achondroplasia: A qualitative study.
Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process.Archives of disease in childhood · 2026Guideline
- Burden and Treatment of Achondroplasia: A Systematic Literature Review.Advances in therapy · 2023Pooled it
- Assessing signs and impacts of achondroplasia: psychometric evaluation of the Achondroplasia Child Experience Measures.Journal of patient-reported outcomes · 2026Trial
- Experiences and treatment perspectives of adolescents and young adults with achondroplasia and caregivers: a qualitative interview study.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 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
- Balancing independence: Priorities, tensions, obstacles, and facilitators for independence among young adults with skeletal dysplasia and short stature.Journal of genetic counseling · 2025Article
- International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.Nature reviews. Endocrinology · 2025Review
- Article
- Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.European journal of pediatrics · 2024Article
- Factors Influencing Participation in Physical Activity, Sports, and Exercise in Children and Adolescents with Spinal Pain or Spinal Conditions: A Systematic Review and Meta-Ethnography.Behavioral sciences (Basel, Switzerland) · 2023Review
- Parents' Experience of Administering Vosoritide: A Daily Injectable for Children with Achondroplasia.Advances in therapy · 2023Article
- Health in Down syndrome: creating a conceptual model.Journal of intellectual disability research : JIDR · 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
- Gait in children with achondroplasia - a cross-sectional study on joint kinematics and kinetics.BMC musculoskeletal disorders · 2022Article
- Functioning and well-being in older children and adolescents with achondroplasia: A qualitative study.American journal of medical genetics. Part A · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The study aimed to explore how having achondroplasia affects older children and adolescents' day-to-day functioning and well-being. Individual/focus group interviews were conducted with older children/adolescents between the ages of 9 to <18 years and diagnosed with achondroplasia to elicit key concepts. An adapted grounded theory approach informed the qualitative analysis of interview data. Thirty-two children and adolescents completed interviews. Study results revealed five impact domains, including physical health, functioning, school impacts, emotional well-being, and social well-being. Frequently reported impacts on physical health included low stamina/tiring easily (81%) and back pain (69%). Key impacts in the functioning domain were difficulty with reaching objects or high places (84%) and walking long distances (75%). Emotional impacts included feeling different (63%), worried/scared (47%), and embarrassed/self-conscious (47%). Impacts on social well-being included difficulty with sports or physical play (81%) and others treating child as younger than their actual age (75%). The most frequent school impact was trouble participating in physical education (81%). A preliminary theoretical model depicting the experiences of older children/adolescents with achondroplasia was constructed based on the analysis. The preliminary theoretical model of older children and adolescents' experiences of living with achondroplasia may be used to inform future research and clinical practice.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.