RADIATE \u2013 Radial Dysplasia Assessment, Treatment and Aetiology: protocol for the development of a core outcome set using a Delphi survey

George R F Murphy,Gill Smith,Malcolm Logan,Bran Sivakumar

doi:10.1186/s13063-019-3459-4

George R F Murphy, Gill Smith + Show 2 more

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https://doi.org/10.1186/s13063-019-3459-4

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Abstract

BackgroundRadial dysplasia (RD) is a disfiguring, potentially disabling congenital upper limb anomaly. Multiple surgical techniques are in current use, with little agreement on the optimal treatment approach. At present, no core outcome set exists specifically for RD, and the literature is dominated by retrospective case series. A recent systematic review by this group demonstrated significant heterogeneity on which outcomes are measured and how they are measured.Methods/designThe RADIATE study will conduct a three-round online Delphi process, involving adult RD patients, the parents of children with RD, hand surgeons and hand therapists. The initial list of outcomes was drawn from our recent systematic review and will be supplemented by suggestions from the stakeholder groups. Following the Delphi process, outcomes that meet the consensus in definition will be ratified at a final consensus meeting. We will then follow the COSMIN guidelines to select outcome measurement instruments. Where appropriate, these will overlap with the outcome measures specified in the forthcoming standard set for congenital upper limb anomalies published by the International Consortium for Health Outcomes Measurement.DiscussionThe Radial Dysplasia Assessment, Treatment and Aetiology (RADIATE) study aims to address the uncertainty in the treatment of RD, and to begin to answer the question ‘What is the most appropriate treatment of the forearm and hand for children with RD?’ by establishing a core outcome set.Trial registrationCOMET initiative study, 902. Registered in May 2016.

Highlights

Radial dysplasia (RD) is a disfiguring, potentially disabling congenital upper limb anomaly
The Radial Dysplasia Assessment, Treatment and Aetiology (RADIATE) study aims to address the uncertainty in the treatment of RD, and to begin to answer the question ‘What is the most appropriate treatment of the forearm and hand for children with RD?’ by establishing a core outcome set
Known causes include spontaneous mutations, teratogenic drugs and syndromes such as Holt–Oram syndrome, vertebral, anal, cardiac, tracheoesophageal, renal and limb (VACTERL) anomalies or Fanconi anaemia, approximately 50% of cases are of unknown aetiology

Summary

Introduction

Radial dysplasia (RD) is a disfiguring, potentially disabling congenital upper limb anomaly. Radial dysplasia (RD) is a disfiguring, potentially disabling congenital upper limb anomaly, affecting approximately 1 in 8000 births [1,2,3]. It is characterised by the variable absence or hypoplasia of the pre-axial upper limb skeleton (radius and thumb) and soft tissues [4]. Known causes include spontaneous mutations, teratogenic drugs and syndromes such as Holt–Oram syndrome, vertebral, anal, cardiac, tracheoesophageal, renal and limb (VACTERL) anomalies or Fanconi anaemia, approximately 50% of cases are of unknown aetiology. Children without associated major comorbidities can expect a normal lifespan

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