Journal article
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
Journal of neurology, neurosurgery and psychiatry, Vol.93(5), pp.530-538
02/09/2022
DOI: 10.1136/jnnp-2021-328483
PMID: 35140138
Abstract
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy and often presents during childhood. Guidelines for the optimal management of common problems experienced by individuals with CMT do not exist, for either children or adults. We formed the Paediatric CMT Best Practice Guidelines Consortium to develop evidence and consensus-based recommendations for the clinical management of children and adolescents with CMT, with the primary objective of promoting optimal, standardised care globally.
Development of this clinical practice guideline involved a series of systematic reviews covering 10 clinical questions, modified Delphi methodology involving an international panel of clinicians to generate consensus where evidence did not exist, and application of the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach to evaluate the body of literature and formulate recommendations.
The final guideline includes three evidence-based and 31 consensus-based recommendations. They encompass the management of muscle weakness, balance and mobility impairment, sensory symptoms, muscle cramps, impaired upper limb function, respiratory impairment, maintenance of joint range of motion and non-surgical management of joint deformity. Consensus was not achieved in some management areas, reflecting differences in practice between clinicians and healthcare settings, and highlighting the need for further research.
This clinical practice guideline provides practical and implementable guidance on the management of common clinical problems experienced by children with CMT and advocates for improved access to multidisciplinary care. Successful dissemination and implementation of these recommendations will be critical in ensuring their application across multiple healthcare settings.
Details
- Title: Subtitle
- Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
- Creators
- Eppie M Yiu - Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, AustraliaPaula Bray - School of Health Sciences, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, AustraliaJonathan Baets - Translational Neurosciences, Faculty of Medicine and Health Sciences, UAntwerpen, Antwerp, BelgiumSteven K Baker - Peripheral Neuropathy Clinic, McMaster University, Hamilton, Ontario, CanadaNina Barisic - National Referral Centre for Pediatric Neuromuscular Disorders, Department of Paediatrics, University Hospital Centre Zagreb, Zagreb, CroatiaKaty de Valle - Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Victoria, AustraliaTimothy Estilow - Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USAMichelle A Farrar - School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Sydney, New South Wales, AustraliaRichard S Finkel - Center for Experimental Neurotherapeutics, St Jude Children's Research Hospital, Memphis, Tennessee, USAJana Haberlová - 2nd Medical School, Motol University Hospital, Prague, Praha, Czech RepublicRachel A Kennedy - Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, AustraliaIsabella Moroni - Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Lombardia, ItalyGarth A Nicholson - Molecular Medicine Laboratory, Concord Hospital, Sydney, New South Wales, AustraliaSindhu Ramchandren - Janssen Pharmaceutical Companies of Johnson and Johnson, Titusville, New Jersey, USAMary M Reilly - Queen Square for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, London, UKKristy Rose - Discipline of Physiotherapy, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, AustraliaMichael E Shy - Department of Neurology, The University of Iowa Hospitals and Clinics, Iowa City, Iowa, USACarly E Siskind - Department of Neurology, Stanford Health Care, Stanford, California, USASabrina W Yum - Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USAManoj P Menezes - Paediatrics and Child Health, The University of Sydney, Sydney, New South Wales, AustraliaMonique M Ryan - Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, AustraliaJoshua Burns - School of Health Sciences, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia
- Resource Type
- Journal article
- Publication Details
- Journal of neurology, neurosurgery and psychiatry, Vol.93(5), pp.530-538
- DOI
- 10.1136/jnnp-2021-328483
- PMID
- 35140138
- NLM abbreviation
- J Neurol Neurosurg Psychiatry
- eISSN
- 1468-330X
- Language
- English
- Date published
- 02/09/2022
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984215028602771
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