Motor Neurone Disease: Assessment and Management

Excerpt

Motor neurone disease (MND) is a neurodegenerative condition that affects the brain and spinal cord. MND is characterised by the degeneration of primarily motor neurones, leading to muscle weakness.

The presentation of the disease varies and can be as muscle weakness, wasting, cramps and stiffness of arms and/or legs, problems with speech and/or swallowing or, more rarely, with breathing problems. Whichever area the disease starts, as the disease progresses the pattern of signs and symptoms becomes similar, with increasing muscle weakness in the person's arms and legs, problems swallowing and communicating and weakness of the muscles used for breathing, which ultimately leads to death. Most people die within 2-3 years of developing symptoms, but 25% are alive at 5 years and 5-10% at 10 years. The most common type of MND is amyotrophic lateral sclerosis (ALS). There are rarer forms of MND such as progressive muscular atrophy and primary lateral sclerosis, which may have a slower rate of progression.

Every person with MND has an individual progression of the disease. About 10-15% of people with MND will show signs of frontotemporal dementia, which causes cognitive dysfunction and issues with decision-making. A further 35% of people with MND show signs of mild cognitive change, which may affect their ability to make decisions and plan ahead.

MND is a disorder which can affect adults of any age. However, incidence is highest in people aged 55-79; onset below the age of 40 years is uncommon. There are approximately 4,000 people living with MND in England and Wales at any one time. The cause of MND is unknown. About 5-10% of people with MND have a family history of the disease and several abnormal genes have been identified.

As there is no cure for MND, care focuses on maintaining functional ability and enabling people with MND and their family members to live life as fully as possible. Early diagnosis, without delay after investigation, may be helpful as it allows for the provision of medication and aids, as well as for communication about the disease and advance care planning to be undertaken appropriately.

Care of people with MND varies across England and Wales, with MND multidisciplinary team clinics and networks providing coordinated multidisciplinary care. However, some people with MND are left isolated and their care is less than ideal. This guideline aims to consider the clinical- and cost-effectiveness evidence for the care of people with MND from the time of diagnosis, including communication of the diagnosis. It covers monitoring of disease progression, management of symptoms (in particular muscle weakness, excess secretions, breathing and nutrition problems), ongoing support and services, mobility, emotional and psychological changes, and preparation for end of life. Particular emphasis is placed on determining the best way to organise the care and management of people with MND.

Contents

• Guideline Development Group members
• NCGC technical team members
• Co-opted expert advisers
• Peer reviewers
• Acknowledgements
• 1. Guideline summary
  • 1.1. Full list of recommendations
  • 1.2. Key research recommendations
  • 1.3. How this guideline amalgamates with NICE guideline CG105
• 2. Introduction
• 3. Development of the guideline
  • 3.1. What is a NICE clinical guideline?
  • 3.2. Remit
  • 3.3. Who developed this guideline?
• 4. Methods
  • 4.1. Developing the review questions and outcomes
  • 4.2. Searching for evidence
  • 4.3. Evidence gathering and analysis
  • 4.4. Evidence of cost-effectiveness
  • 4.5. Developing recommendations
• 5. Recognition and referral
  • 5.1. Introduction
  • 5.2. Review question: What factors impact upon timeliness of diagnosis in people with MND in the UK?
  • 5.3. Clinical evidence
  • 5.4. Economic evidence
  • 5.5. Evidence statements
  • 5.6. Recommendations and link to evidence
• 6. Information and support at diagnosis
  • 6.1. Introduction
  • 6.2. Review question: What specific MND knowledge do patients, their carers and health professionals consider is required in order to communicate diagnosis of MND, its prognosis, and choices of ongoing care appropriately?
  • 6.3. Clinical evidence
  • 6.4. Economic evidence
  • 6.5. Evidence statements
  • 6.6. Recommendations and link to evidence
• 7. Cognitive assessments
  • 7.1. Introduction
  • 7.2. Review question: What is the optimum frequency of assessing cognitive function in people with MND?
  • 7.3. Clinical evidence
  • 7.4. Economic evidence
  • 7.5. Evidence statements
  • 7.6. Recommendations and link to evidence
• 8. Prognostic factors
  • 8.1. Introduction
  • 8.2. Review questions: A) What are the most accurate prognostic tools for estimating survival in people with MND? B) What risk factors predict survival in people with MND?
  • 8.3. Clinical evidence
  • 8.4. Economic evidence
  • 8.5. Evidence statements
  • 8.6. Recommendations and link to evidence
• 9. Organisation of care
  • 9.1. Introduction
  • 9.2. Review question: What is the most clinically- and cost-effective approach for coordinating care and support across health and social care for people with MND and their families and carers?
  • 9.3. Clinical evidence
  • 9.4. Economic evidence
  • 9.5. Evidence statements
  • 9.6. Recommendations and link to evidence
  • 9.7. Review question: What is the optimum frequency of assessment required to assess disease progression of MND?
  • 9.8. Clinical evidence
  • 9.9. Economic evidence
  • 9.10. Evidence statements
  • 9.11. Recommendations and link to evidence
• 10. Psychological support
  • 10.1. Introduction
  • 10.2. Review question: What psychological support is needed for people with MND and their families and carers?
  • 10.3. Clinical evidence
  • 10.4. Economic evidence
  • 10.5. Evidence statements
  • 10.6. Recommendations and link to evidence
• 11. Social care support
  • 11.1. Introduction
  • 11.2. Review question: What are the social care support needs of people with MND and their families and carers?
  • 11.3. Clinical evidence
  • 11.4. Economic evidence
  • 11.5. Evidence statements
  • 11.6. Recommendations and link to evidence
• 12. Planning for end of life
  • 12.1. Introduction
  • 12.2. Review question: What are the most appropriate ways of communicating with and supporting people with MND and their families and carers to help them anticipate, and prepare for, end of life?
  • 12.3. Clinical evidence
  • 12.4. Economic evidence
  • 12.5. Evidence statements
  • 12.6. Recommendations and link to evidence
• 13. Pharmacological and non-pharmacological management for muscle problems
  • 13.1. Introduction
  • 13.2. Review question: For adults with MND, what is the clinical- and cost-effectiveness of pharmacological treatments for muscle cramps and fasciculations, increased tone (including spasticity, muscle spasm or stiffness), muscle weakness, wasting or atrophy?
  • 13.3. Clinical evidence
  • 13.4. Economic evidence
  • 13.5. Evidence statements
  • 13.6. Recommendations and link to evidence
  • 13.7. Review question: For adults with MND, what is the clinical- and cost-effectiveness of non-pharmacological treatments for muscle cramps and fasciculations, increased tone (including spasticity, muscle spasm or stiffness), muscle stiffness, wasting or atrophy?
  • 13.8. Clinical evidence
  • 13.9. Economic evidence
  • 13.10. Evidence statements
  • 13.11. Recommendations and link to evidence
• 14. Saliva management
  • 14.1. Introduction
  • 14.2. Review question: What is the clinical- and cost-effectiveness of interventions for saliva management in people with MND?
  • 14.3. Clinical evidence
  • 14.4. Economic evidence
  • 14.5. Evidence statements
  • 14.6. Recommendations and link to evidence
• 15. Equipment and adaptations to aid activities of daily living and mobility
  • 15.1. Introduction
  • 15.2. Review question: What are the equipment needs of people with MND for improving mobility and fulfilling activities of daily living due to muscle weakness?
  • 15.3. Clinical evidence
  • 15.4. Economic evidence
  • 15.5. Evidence statements
  • 15.6. Recommendations and link to evidence
• 16. Nutrition
  • 16.1. Introduction
  • 16.2. Review question: What are the most clinically- and cost-effective methods for maintaining nutritional intake and managing weight in people with MND for whom a gastrostomy is not appropriate?
  • 16.3. Clinical evidence
  • 16.4. Economic evidence
  • 16.5. Evidence statements
  • 16.6. Recommendations and link to evidence
• 17. Gastrostomy
  • 17.1. Introduction
  • 17.2. Review question: What is the clinically appropriate timing of placement of a gastrostomy tube for nutrition management in people with MND?
  • 17.3. Clinical evidence
  • 17.4. Economic evidence
  • 17.5. Evidence statements
  • 17.6. Recommendations and link to evidence
• 18. Communication
  • 18.1. Introduction
  • 18.2. Review question: What is the clinical- and cost-effectiveness of augmentative and alternative communication (AAC) systems for supporting communication in people with MND?
  • 18.3. Clinical evidence
  • 18.4. Economic evidence
  • 18.5. Evidence statements
  • 18.6. Recommendations and link to evidence
• 19. Respiratory function and respiratory symptoms
  • 19.1. Introduction
  • 19.2. Recommendations and link to evidence
  • 19.3. Pharmacological management of breathing difficulties
  • 19.4. Introduction
  • 19.5. Review question: What is the clinical- and cost-effectiveness of pharmacological treatments for managing breathing difficulties in people with MND?
  • 19.6. Clinical evidence
  • 19.7. Economic evidence
  • 19.8. Evidence statements
  • 19.9. Recommendations and link to evidence
• 20. Cough effectiveness
  • 20.1. Introduction
  • 20.2. Review question: What is the clinical- and cost-effectiveness of cough augmentation techniques for people with MND who have an ineffective cough?
  • 20.3. Clinical evidence
  • 20.4. Economic evidence
  • 20.5. Evidence statements
  • 20.6. Recommendations and link to evidence
• 21. Non-invasive ventilation
  • 21.1. Introduction
  • 21.2. Information and support for non-invasive ventilation
  • 21.3. Recommendations from CG105
  • 21.4. Experience of discontinuation of NIV
  • 21.5. Introduction
  • 21.6. Review question: What factors influenced the experience of discontinuation, at a patient’s request, of NIV for relatives/carers/healthcare/social care professionals?
  • 21.7. Clinical evidence
  • 21.8. Economic evidence
  • 21.9. Evidence statements
  • 21.10. Recommendations and link to evidence
  • 21.11. Recommendations from CG105 unchanged
  • 21.12. Management of discontinuation of NIV
  • 21.13. Introduction
  • 21.14. Review question: What is the most appropriate management of discontinuation, at a patient’s request, of NIV?
  • 21.15. Clinical evidence
  • 21.16. Economic evidence
  • 21.17. Evidence statements
  • 21.18. Recommendations and link to evidence
• 22. Reference list
• 23. Acronyms and abbreviations
• 24. Glossary
• Appendices
  • Appendix A. Scope
  • Appendix B. Declarations of interest
  • Appendix C. Review protocols
  • Appendix D. Clinical article selection
  • Appendix E. Economic article selection
  • Appendix F. Literature search strategies
  • Appendix G. Clinical evidence tables
  • Appendix H. Economic evidence tables
  • Appendix I. GRADE tables
  • Appendix J. Forest plots
  • Appendix K. Excluded clinical studies
  • Appendix L. Excluded economic studies
  • Appendix M. Cost-effectiveness analysis: Multi-disciplinary care
  • Appendix N. Research recommendations
  • Appendix O. How this guideline amalgamates with NICE guideline CG105
  • Appendix P. NICE project team
  • Appendix Q. References

Disclaimer: Healthcare professionals are expected to take NICE clinical guidelines fully into account when exercising their clinical judgement. However, the guidance does not override the responsibility of healthcare professionals to make decisions appropriate to the circumstances of each patient, in consultation with the patient and, where appropriate, their guardian or carer.