ArticleOrphanet journal of rare diseases2025
Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process.Archives of disease in childhood · 2026Guideline
- Healthcare and Psychosocial Needs in Achondroplasia Across the Lifespan: Developmental Functioning, Multidisciplinary Care, and Family-Centered Outcomes.Healthcare (Basel, Switzerland) · 2026Review
- Clinical decision-making in rare bone diseases - A survey among members of the European Paediatric Orthopaedic Society (EPOS) and the European Reference Network on Rare Bone Diseases (ERN BOND).Journal of children's orthopaedics · 2026Article
Corrections and comments
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Authors and funding
18 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAchondroplasia is one of the most prevalent forms of skeletal dysplasia. Lifelong follow-up by an experienced multidisciplinary team is required, particularly during the first 2 years. In 2021, international consensus recommendations and guiding principles were published by two groups.
methodsWe undertook two exploratory surveys to investigate awareness of the recommendations for management of children with achondroplasia among healthcare professionals (HCPs) and parents. We also assessed how well clinical practice aligns with the recommendations.
resultsAwareness of guidance was high among HCP respondents but low among parent respondents. Clinical practice largely aligned with international guidance; however, there was not complete alignment with all recommendations with several rating "somewhat" or "not at all aligned". For infants, these included referral to skeletal dysplasia centre or an HCP with expertise in achondroplasia after diagnosis, provision to parents of early information on positioning and handling, mandatory evaluation for cervicomedullary compression at each medical evaluation, sleep study within the first year of life, and adherence to national immunisation programmes. For children aged 2-5 years, these included annual audiology assessment, encouraging parents to keep children active and learn early healthier nutritional habits, consultation with a paediatric orthopaedic spine specialist if a kyphosis has not resolved within a year, consultation with a paediatric orthopaedic surgeon in the case of progressive genu varum, discussion of limb lengthening procedures, and regular dental assessments.
conclusionsFurther research is needed to understand the reasons for deviation from recommendations. Efforts to increase alignment with recommendations could include disseminating to the wider group of specialties that care for people with achondroplasia and seeking alternative approaches to current organisation of care, such as hub-and-spoke models. Raising awareness of the guidance among parents could be achieved by adapting materials for a non-HCP audience, translation and sharing through patient advocacy groups.
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Registered trials
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