BACKGROUND AND OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

2nd Medical School Motol University Hospital Prague Praha Czech Republic

Center for Experimental Neurotherapeutics St Jude Children's Research Hospital Memphis Tennessee USA

Centre for Motor Neurone Disease Research Macquarie University Sydney New South Wales Australia

Department of Neurology Stanford Health Care Stanford California USA

Department of Neurology Sydney Children's Hospital Randwick Sydney New South Wales Australia

Department of Neurology The University of Iowa Hospitals and Clinics Iowa City Iowa USA

Department of Neurology University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania USA

Department of Occupational Therapy The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

Department of Paediatrics The University of Melbourne Melbourne Victoria Australia

Department of Pediatric Neurosciences Fondazione IRCCS Istituto Neurologico Carlo Besta Milano Lombardia Italy

Discipline of Physiotherapy The University of Sydney Faculty of Medicine and Health Sydney New South Wales Australia

Division of Neurology The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

Janssen Pharmaceutical Companies of Johnson and Johnson Titusville New Jersey USA

Laboratory of Neuromuscular Pathology Institute Born Bunge University of Antwerp Antwerpen Belgium

Molecular Medicine Laboratory Concord Hospital Sydney New South Wales Australia

National Referral Centre for Pediatric Neuromuscular Disorders Department of Paediatrics University Hospital Centre Zagreb Zagreb Croatia

Neurology Children's Hospital at Westmead Westmead New South Wales Australia

Neurology Department The Royal Children's Hospital Melbourne Parkville Victoria Australia

Neuromuscular Reference Centre Department of Neurology Antwerp University Hospital Edegem Antwerp Belgium

Neuroscience Research Group Murdoch Children's Research Institute Parkville Victoria Australia

Paediatric Gait Analysis Service of New South Wales Orthopaedics Department The Children's Hospital at Westmead Westmead New South Wales Australia

Paediatrics and Child Health The University of Sydney Sydney New South Wales Australia

Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

Peripheral Neuropathy Clinic McMaster University Hamilton Ontario Canada

Queen Square for Neuromuscular Diseases UCL Queen Square Institute of Neurology London London UK

School of Health Sciences The University of Sydney Faculty of Medicine and Health Sydney New South Wales Australia

School of Women's and Children's Health UNSW Medicine UNSW Sydney Sydney New South Wales Australia

Translational Neurosciences Faculty of Medicine and Health Sciences UAntwerpen Antwerp Belgium

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$a BACKGROUND AND OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

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