Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

Eppie M Yiu^{1

2

3}, Paula Bray^{4

5}, Jonathan Baets^{6

7

8}, Steven K Baker⁹, Nina Barisic¹⁰, Katy de Valle^{11

2}, Timothy Estilow^{12

13}, Michelle A Farrar^{14

15}, Richard S Finkel¹⁶, Jana Haberlová¹⁷, Rachel A Kennedy^{11

2

3}, Isabella Moroni¹⁸, Garth A Nicholson^{19

20}, Sindhu Ramchandren²¹, Mary M Reilly²², Kristy Rose²³, Michael E Shy²⁴, Carly E Siskind²⁵, Sabrina W Yum^{26

27}, Manoj P Menezes^{28

29}, Monique M Ryan^{11

2

3}, Joshua Burns^{4

5}

Affiliations

¹ Neurology Department, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia eppie.yiu@rch.org.au.
² Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
³ Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
⁴ Paediatric Gait Analysis Service of New South Wales, Orthopaedics Department, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
⁵ School of Health Sciences, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.
⁶ Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.
⁷ Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Edegem, Antwerp, Belgium.
⁸ Translational Neurosciences, Faculty of Medicine and Health Sciences, UAntwerpen, Antwerp, Belgium.
⁹ Peripheral Neuropathy Clinic, McMaster University, Hamilton, Ontario, Canada.
¹⁰ National Referral Centre for Pediatric Neuromuscular Disorders, Department of Paediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
¹¹ Neurology Department, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.
¹² Department of Occupational Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
¹³ Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
¹⁴ Department of Neurology, Sydney Children's Hospital Randwick, Sydney, New South Wales, Australia.
¹⁵ School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Sydney, New South Wales, Australia.
¹⁶ Center for Experimental Neurotherapeutics, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
¹⁷ 2nd Medical School, Motol University Hospital, Prague, Praha, Czech Republic.
¹⁸ Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Lombardia, Italy.
¹⁹ Centre for Motor Neurone Disease Research, Macquarie University, Sydney, New South Wales, Australia.
²⁰ Molecular Medicine Laboratory, Concord Hospital, Sydney, New South Wales, Australia.
²¹ Janssen Pharmaceutical Companies of Johnson and Johnson, Titusville, New Jersey, USA.
²² Queen Square for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, London, UK.
²³ Discipline of Physiotherapy, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.
²⁴ Department of Neurology, The University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
²⁵ Department of Neurology, Stanford Health Care, Stanford, California, USA.
²⁶ Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
²⁷ Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
²⁸ Neurology, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
²⁹ Paediatrics and Child Health, The University of Sydney, Sydney, New South Wales, Australia.

PMID: 35140138
DOI: 10.1136/jnnp-2021-328483

Review

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

Eppie M Yiu et al. J Neurol Neurosurg Psychiatry. 2022 May.

. 2022 May;93(5):530-538.

doi: 10.1136/jnnp-2021-328483. Epub 2022 Feb 9.

Authors

Affiliations

¹ Neurology Department, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia eppie.yiu@rch.org.au.
² Neuroscience Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
³ Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
⁴ Paediatric Gait Analysis Service of New South Wales, Orthopaedics Department, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
⁵ School of Health Sciences, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.
⁶ Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.
⁷ Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Edegem, Antwerp, Belgium.
⁸ Translational Neurosciences, Faculty of Medicine and Health Sciences, UAntwerpen, Antwerp, Belgium.
⁹ Peripheral Neuropathy Clinic, McMaster University, Hamilton, Ontario, Canada.
¹⁰ National Referral Centre for Pediatric Neuromuscular Disorders, Department of Paediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
¹¹ Neurology Department, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.
¹² Department of Occupational Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
¹³ Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
¹⁴ Department of Neurology, Sydney Children's Hospital Randwick, Sydney, New South Wales, Australia.
¹⁵ School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Sydney, New South Wales, Australia.
¹⁶ Center for Experimental Neurotherapeutics, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
¹⁷ 2nd Medical School, Motol University Hospital, Prague, Praha, Czech Republic.
¹⁸ Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Lombardia, Italy.
¹⁹ Centre for Motor Neurone Disease Research, Macquarie University, Sydney, New South Wales, Australia.
²⁰ Molecular Medicine Laboratory, Concord Hospital, Sydney, New South Wales, Australia.
²¹ Janssen Pharmaceutical Companies of Johnson and Johnson, Titusville, New Jersey, USA.
²² Queen Square for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, London, UK.
²³ Discipline of Physiotherapy, The University of Sydney Faculty of Medicine and Health, Sydney, New South Wales, Australia.
²⁴ Department of Neurology, The University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
²⁵ Department of Neurology, Stanford Health Care, Stanford, California, USA.
²⁶ Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
²⁷ Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
²⁸ Neurology, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
²⁹ Paediatrics and Child Health, The University of Sydney, Sydney, New South Wales, Australia.

PMID: 35140138
DOI: 10.1136/jnnp-2021-328483

Abstract

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.

Keywords: hmsn (Charcot-Marie-Tooth); paediatric neurology; systematic reviews.

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Conflict of interest statement

Competing interests: MES has received consulting fees or honoraria from Inflectis Bioscience, Passage Biosci and Mitochondria in Motion, Temple University and Albert Einstein Medical College, and is the Chair of the CMT and Related Disorders (CMTR) Consortium of the Peripheral Nerve Society. SR has been employed at the Janssen Pharmaceutical Companies of Johnson & Johnson since January 2021 and has restricted stock options. Her contributions to the paper were made prior to her current employment. IM is a board member of the CMTR Consortium of the Peripheral Nerve Society. CES is a voluntary advisory board member of the CMT Association. EMY, PB, JBa, SKB, NB, KdV, TE, MAF, RSF, JH, RAK, GAN, MaMR, KR, SWY, MPM, MoMR and JBu report no competing interests.

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Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

Affiliations

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

Authors

Affiliations

Abstract

Conflict of interest statement

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical