Peer-reviewed article
UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process.
Candler TP, Ali K, Bewick E, Borg SA, Chinoy A et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This document presents UK-specific clinical guidelines for the multidisciplinary care of children and young people with achondroplasia, a genetic skeletal condition. The guidelines were developed through a modified Delphi consensus process involving 25 expert clinicians. The recommendations cover age-specific monitoring, medical management, psychosocial support, education and transition to adult care across childhood and adolescence. The guidelines aim to standardise care and improve health outcomes for affected young people in UK healthcare settings.
Key points
- All 20 initial Delphi statements achieved ≥80% consensus; nine reached 100% agreement
- After refinement and in-person meeting, 24 final statements were developed with all achieving consensus in Round 2, with 21 at 100% agreement
- Guidelines address medical management of complications, psychosocial support, educational planning and transition to adult care
- Recommendations are age-specific from infancy through adolescence
- Guidelines are aligned with international best practices but tailored to UK healthcare systems
Limitations
This document describes a consensus-building process for clinical guidelines rather than evaluating an intervention or programme for children's well-being. It does not provide data on outcomes for children with achondroplasia or test the effectiveness of the recommended care approach.
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.