UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process

Candler, Toby P., Ali, Kate, Bewick, Emma, Borg, Stephanie A., Chinoy, Amish, Cobourne, Martyn T., Cocca, Alessandra, Freeman, Anita, Gibbins, Jonathan, Gosnell, Emma, Harrison, Mike, Johnson, Kathryn, Latimer, Mark, McDevitt, Helen, Murch, Oliver, Nadar, Ruchi, Offiah, Amaka C., Parks, Chris, Skae, Mars, Smithson, Sarah F., Tucker, Ian, Turcu, Simona, Webb, Emma A., Wright, Michael and Cheung, Moira S. (2026) UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process. Archives of Disease in Childhood. ISSN 0003-9888

Microsoft Word (rba11-Webb_archdischild-2025-32) - Published Version Available under License Creative Commons Attribution Non-commercial. Download (707kB)

Abstract

Background: Achondroplasia (ACH), the most common skeletal dysplasia, arises from gain-of-function variants in the fibroblast growth factor receptor 3 gene. Children with ACH experience lifelong medical, functional and psychosocial challenges requiring coordinated and anticipatory care. Although international guidance exists, the UK lacks national clinical care recommendations specific to its healthcare systems.  Objective: To develop UK-specific, multidisciplinary clinical recommendations for the care of children and young people (CYP) with ACH.  Methods: The UK Achondroplasia Network developed guidance in stages: stakeholder mapping of the care pathway, integration of contemporary literature with clinical expertise to draft age-specific guidance and Delphi statements, and a modified Delphi process with 25 multidisciplinary experts. The Delphi process involved two voting rounds and an in-person meeting, with consensus defined as ≥80% agreement.  Results: In the first Delphi round, all 20 statements achieved consensus; nine achieved 100% agreement. To strengthen consensus, after meeting in person, 17 statements were refined (four were divided into two statements), one created and one removed, resulting in 24 statements for Round 2; all achieved consensus, with 21 reaching 100% agreement. The guidance outlines age-specific monitoring and referral from infancy to adolescence. Recommendations address medical management of complications, psychosocial support, educational planning and transfer to adult care.  Conclusion: These are the first UK-specific multidisciplinary recommendations for the care of CYP with ACH. Aligned with international best practices and tailored to UK healthcare systems, they support anticipatory care, promote independence and enhance health and psychosocial outcomes. The guidelines offer a foundation for service planning, standardisation and equitable care.

Item Type:	Article
Uncontrolled Keywords:	adolescent health,child health,paediatrics,pediatrics, perinatology, and child health ,/dk/atira/pure/subjectarea/asjc/2700/2735
Faculty \ School:	Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups:	Faculty of Medicine and Health Sciences > Research Centres > Metabolic Health Faculty of Medicine and Health Sciences > Research Centres > Public Health
Related URLs:	http://www.scopus.com/inward/record.url?...
Depositing User:	LivePure Connector
Date Deposited:	03 Feb 2026 15:35
Last Modified:	03 Feb 2026 17:35
URI:	https://ueaeprints.uea.ac.uk/id/eprint/101825
DOI:	10.1136/archdischild-2025-329829

Downloads

Actions (login required)

View Item