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Arthrogryposis multiplex congenita definition: Update using an international consensus-based approach
Sarah Cachecho1, Caroline Elfassy1, Reggie Hamdy2
1Rehabilitation Department, Shriners Hospital for Children-Canada, Montreal, Quebec, Canada.
Summary
Researchers established a consensus-based definition for Arthrogryposis multiplex congenita (AMC) to improve clarity. This standardized definition aims to harmonize research and clinical communication for AMC patients and professionals.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Orthopedics
Background:
- Arthrogryposis multiplex congenita (AMC) lacks a consistent definition, causing confusion in clinical and research settings.
- Inconsistent terminology hinders effective communication among families, clinicians, and researchers.
Purpose of the Study:
- To develop a consensus-based definition for AMC using international expert opinion.
- To establish a harmonized language for AMC research and clinical practice.
Main Methods:
- Conducted a literature review to identify existing AMC definitions and common terminology.
- Convened a panel of eight AMC experts to determine critical definitional elements.
- Utilized a modified Delphi consensus process with 25 international experts over three survey rounds.
- Analyzed survey results quantitatively and qualitatively to refine the AMC definition.
Main Results:
- A consensus-based definition for Arthrogryposis multiplex congenita was successfully developed.
- The process involved iterative feedback and refinement among international experts.
- The proposed definition aims to standardize understanding and communication of AMC.
Conclusions:
- A consensus definition for AMC is crucial for advancing research and clinical care.
- Standardized terminology will improve communication and collaboration in the AMC community.
- This work provides a foundation for consistent diagnosis and management of AMC.
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