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UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified
Toby P Candler1,2, Kate Ali3, Emma Bewick4
1Bristol Royal Hospital for Children, Bristol, England, UK.
Insights
New UK clinical guidelines offer comprehensive care recommendations for children with achondroplasia (ACH), addressing lifelong medical and psychosocial needs. These guidelines ensure coordinated, anticipatory care tailored to the UK healthcare system.
Area of Science:
- Genetics and Rare Diseases
- Pediatric Endocrinology
- Clinical Practice Guidelines
Background:
- Achondroplasia (ACH) is the most common skeletal dysplasia, caused by FGFR3 gene mutations.
- Children with ACH face significant lifelong medical, functional, and psychosocial challenges.
- The UK previously lacked national clinical care recommendations specific to its healthcare system for ACH.
Purpose of the Study:
- To develop UK-specific, multidisciplinary clinical recommendations for managing children and young people (CYP) with achondroplasia.
- To provide age-specific guidance for healthcare professionals involved in ACH care.
- To establish a framework for coordinated and anticipatory care within the UK.
Main Methods:
- A UK Achondroplasia Network initiative involved stakeholder mapping and literature review.
- A modified Delphi process with 25 multidisciplinary experts was employed.
- Consensus was defined as ≥80% agreement, with two voting rounds and an in-person meeting.
Main Results:
- The guidance includes 24 consensus-based statements covering infancy to adolescence.
- Recommendations address medical management, psychosocial support, educational planning, and transition to adult care.
- High levels of expert agreement (≥80%, with 21/24 reaching 100% in Round 2) were achieved.
Conclusions:
- These are the first UK-specific multidisciplinary recommendations for ACH care in CYP.
- The guidelines align with international best practices and are tailored for UK healthcare systems.
- They aim to enhance health and psychosocial outcomes, promote independence, and standardize care.
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.
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