Archives of disease in childhood · 2026
UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process.
Consensus StatementСтатьяКлинические рекомендацииНазвание и аннотация: Перевод в очереди
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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, Cheung Moira S
Аннотация
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.
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.