Evidence map›Paper›PMID 41565440›Full record

GuidelineArchives of disease in childhood2026

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

Toby P Candler, Kate Ali, Emma Bewick, Stephanie A Borg, Amish Chinoy, Martyn T Cobourne, Alessandra Cocca, Anita Freeman, Jonathan Gibbins, Emma Gosnell and 15 more

Abstract readConsensus StatementPractice Guideline
In one paragraph

Guideline in Archives of disease in childhood, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors.

Toby P CandlerBristol Royal Hospital for Children, Bristol, England, UK.
Kate AliGreat Ormond Street Hospital for Children NHS Foundation Trust, London, England, UK.
Emma BewickOrthopaedics, Spinal and Rare Bone Disorders, Great Ormond Street Hospital for Children NHS Foundation Trust, London, England, UK.
Stephanie A BorgSheffield Children's Hospital NHS Foundation Trust, Sheffield, England, UK.
Amish ChinoyPaediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, England, UK.
Martyn T CobourneFaculty of Dental, Oral & Craniofacial Sciences, Centre for Craniofacial & Regenerative Biology, King's College London, London, England, UK.
Alessandra CoccaEvelina London Children's Hospital, London, England, UK.ORCID 0000-0003-4312-4591
Anita FreemanGreat Ormond Street Hospital for Children NHS Foundation Trust, London, England, UK.ORCID 0000-0002-4221-1514
Jonathan GibbinsPaediatric Psychology Department, Evelina London Children's Hospital, London, England, UK.
Emma GosnellRoyal Manchester Children's Hospital, Manchester, England, UK.
Mike HarrisonChildren's Dental Centre, St Thomas' Hospital, London, England, UK.
Kathryn JohnsonPaediatric Skeletal Dysplasia Service, Evelina London Children's Hospital, London, England, UK.
Mark LatimerAddenbrooke's Hospital, Cambridge, England, UK.
Helen McDevittRoyal Hospital for Children, Glasgow, Scotland, UK.
Oliver MurchAll Wales Medical Genomics Service, Wales Genomic Health Centre, NHS Wales Cardiff and Vale University Health Board, Cardiff, Wales, UK.
Ruchi NadarBirmingham Children's Hospital NHS Foundation Trust, Birmingham, England, UK.
Amaka C OffiahSheffield Children's Hospital NHS Foundation Trust, Sheffield, England, UK.ORCID 0000-0001-8991-5036
Chris ParksNeurosurgery Department, Alder Hey Children's NHS Foundation Trust, Liverpool, England, UK.
Mars SkaePaediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, England, UK.ORCID 0000-0002-8226-2148
Sarah F SmithsonBristol Royal Hospital for Children, Bristol, England, UK.
Ian TuckerBristol Royal Hospital for Children, Bristol, England, UK.
Simona TurcuEvelina London Children's Hospital, London, England, UK.
Emma A WebbNorwich Medical School, University of East Anglia, Norwich, England, UK.
Michael WrightNewcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, England, UK.
Moira S CheungGreat Ormond Street Hospital for Children NHS Foundation Trust, London, England, UK moira.cheung@gosh.nhs.uk.ORCID 0000-0003-0742-7595

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAchondroplasia (ACH), the most common skeletal dysplasia, arises from gain-of-function variants in the

objectiveTo develop UK-specific, multidisciplinary clinical recommendations for the care of children and young people (CYP) with ACH.

methodsThe 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.

resultsIn 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.

conclusionThese 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.

Indexed as

AchondroplasiaAdolescentChildChild, PreschoolDelphi TechniqueHumansInfantPatient Care TeamUnited KingdomAdolescent HealthChild HealthPaediatrics

Identifiers

PMID41565440
PMCPMC13217056

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.