Management of Neuromuscular Disorders in Children

This book is the first to provide comprehensive information in one place on the management of neuromuscular disorders (NMDs) in children. Written by experts from the international NMD community, this volume describes the natural history of the most frequent NMDs, such as Duchenne muscular dystrophy spinal muscular atrophy, hereditary neuropathies, congenital and metabolic neuropathies and myasthenic syndromes. Best practice management of key functions typically affected by NMDs, such as, cognition and mental health, respiratory function, gastrointestinal, nutritional and cardiology management is provided. Sexual issues and transition to adulthood are also discussed. The final part of the book provides a critical review of new evidenced-based management approaches to NMDs. The large number of healthcare professionals involved in managing children with NMDs will find this a useful one-stop reference resource.

Bietet Praxisleitlinien für Diagnose und Management der häufigsten neuromuskulären Störungen.
- Erläutert die Ansätze bei den wichtigsten Körperfunktionen, die von neuromuskulären Erkrankungen betroffen sind.
- Vereint die Stellungnahmen und Leitlinien der Experten des Fachgebiets.
- Präsentiert auch die jüngsten therapeutischen Fortschritte bei Duchenne-Muskeldystrophie und spinaler Muskeldystrophie.

Foreword
Rudolf Korinthenberg

Preface
Nicolas Deconinck and Nathalie Goemans

Section A: Introduction

1. Parent Perspectives on Neuromuscular Disorders: From Diagnosis, to Parenting and Living With, to Advance Care Planning and Preparing for Death
Anne Rutkowski, Stacy Cossette, Anne Lennox and Ann Schrooten

2. The Importance of Setting up Guidelines for Neuromuscular Disorders
Thomas Sejersen

3. A Multidisciplinary Approach and Management as Best Care Model in Neuromuscular Disorders
Nathalie Goemans

Section B: Assessment of a Child with a Neuromuscular Disorder: The Cornerstone for Management

4. Clinical Evaluation and Diagnostic Approach
Nicolas Deconinck, Sandra Coppens and Gauthier Remiche

5. The Importance of Evaluating Function in Neuromuscular Disorders
Anna G Mayhew

Section C: Overview of the Most Frequent Neuromuscular Conditions in Children and Disease Specific Medical Management

6. Spinal Muscular Atrophy and Other Motor Neuron Diseases
Wendy K M Liew, Banu Sundar and Basil T Darras

7. Inherited Neuropathies
Nicolas Deconinck and Lionel Paternoster

8. Acquired Neuropathies
Nicolas Deconinck

9. Disorders of the Neuromuscular Junction: Inherited Myasthenic Syndromes and Juvenile Myasthenia Gravis
Nicolas Deconinck

10. Duchenne and Becker Muscular Dytrophies
Nathalie Goemans

11. Limb Girdle Muscular Dystrophies
Nathalie Goemans

12. Congenital Muscular Dystrophies
Nathalie Goemans

13. Facioscapulohumeral Muscular Dystrophy
Nicolas Deconinck

14. Congenital Myopathies
Sandra Coppens

15. Myotonic Dystrophies
Liesbeth De Waele

16. Pompe Disease
Boglarka Bansagi and Peter Witters

17. Mitochondrial Disorders
Rudy van Coster

18. Channelopathies
Nicolas Deconinck

19. Inflammatory Myopathies
Nicolas Deconinck and Laurence Goffin

Section D: Physical Rehabilitation and Orthopaedic Management

20. Lifelong Physiotherapy: Staying Active
Imelda de Groot

21. Management of of Contractures: Stretching, Positioning and Splinting
Tina Duong and Kristy Rose

22. Occupational Therapy and Robotics
Imelda de Groot

23. Orthopedic Complications in Neuromuscular Disorders
Maarten Van Nuffel and Pierre Moens

24. Neuromuscular Scoliosis
Pierre Moens

Section E: Respiratory Management

25. Assessment and Management of Respiratory Function in Children with Neuromuscular Disorders
Oscar Mayer, Hemant Sawnani and Michel Toussaint

Section F: Feeding and Gastrointestinal Management

26. Gatro-intestinal Complications and Nutrition
Hasan Özen and Haluk Topalogou

Section G: Cardiac Management

27. Cardiac Management in Children with Neuromuscular Disorders
Karim Wahbi

Section H: Psychosocial Aspects

28. Cognitive, Behavioral and Psychosocial Aspects of Growing Up with a Neuromuscular Disease
Sam Geuens

29. Transition to Adulthood
Ros Quinlivan

30. Sexual Health Needs in Patients with Neuromuscular Disorders
Laurent Servais

Nicolas Deconinck is Professor and Deputy Head of Neurology at Hôpital Universitaire des Enfants Reine Fabiola, Belgium, where he leads the pediatric neuromuscular unit. He is also head of the clinical research programme at the Neuromuscular Center at Ziekenhuis University, Gent Belgium. Prof Deconinck is currently involved in several important new treatment development programmes in spinal muscular atrophy and Duchenne muscular dystrophy. He is actively involved in national and international research networks, with particular interest in the multidisciplinary aspects and the dissemination of standards of care.

Nathalie Goemans is a paediatrician and child neurologist, with certification in rehabilitation medicine. She is head of the Neuromuscular Reference Centre for Children at the University Hospitals, Leuven, Belgium. Her research activities involve translational and clinical research in various neuromuscular disorders, the development of new therapies for Duchenne muscular dystrophy and spinal muscular atrophies and the research and development of outcome measures to assess interventions in these diseases. She has contributed to over 80 journal articles on neuromuscular disorders.

From the Foreword

Neuromuscular Disorders in Children… is consistently patient-centred, will help readers learn about the latest classification and treatment options for these diseases, and hopefully influence their attitudes and decisions caring for patients with neuromuscular disorders. With broad distribution this book will help to improve the fate and quality of life of many patients suffering from NMDs, as well as their families.
—Rudolf Korinthenberg MD, Professor Emeritus of Neuropaediatrics and Muscular Disorders, Freiburg, Germany

Neuromuscular Disorders in Children: A Multidisciplinary Approach to Management critically reviews current evidence of management approaches in the field of neuromuscular disorders (NMDs) in children. Uniquely, the book focusses on assessment as the cornerstone and highlights the importance of a multidisciplinary approach.

A key section describes the clinical picture, diagnosis standards and natural history of the most frequent neuromuscular disorders in children, including:

• muscular dystrophies
• spinal muscular atrophy
• congenital, metabolic, myotonic and inflammatory myopathies
• myasthenic syndromes
• hereditary, acquired and inflammatory neuropathies.

Importantly, much of the book is dedicated to the latest management approaches in key clinical systems typically involved in NMDs. These include physical rehabilitation, orthopaedic, respiratory, gastrointestinal and cardiac management, as well as psychosocial aspects such as the transition to adulthood and sexual health needs. The latest advances in pharmaceutical therapies and future therapeutic strategies are also discussed.

This book will prove a principal resource for all professionals involved in the care of children with NMDs, including neurologists, paediatricians, pneumologists, rehabilitation specialists, cardiologists, orthopaedists, physiotherapists, psychologists, occupational therapists and speech therapists.