Motor neurone disease (MND; also known as amyotrophic lateral sclerosis (ALS)) is a progressive neurological disease characterised by the loss of, primarily, motor neurones, leading to muscle weakness. This may present as weakness of legs or arms, speech and swallowing problems, due to bulbar muscle weakness, or, more rarely, respiratory failure due to diaphragmatic and respiratory muscle weakness.1 There is increasing evidence of other areas of the brain being affected, primarily fronto-temporal dementia in up to 15% of all patients and evidence of cognitive change, frontal changes, in another 30–40%.2
MND is a rare disease with a prevalence of only 6–7/100,000 and an incidence of 2/100,000.1 The aetiology is usually unknown, although approximately 5–10% of people do give a family history, and now up to 60% of these people in Europe can be shown to have an abnormal gene.3 It would seem that most cases of MND may be related to genetic changes, but with added environmental effects, leading to the disease development.3
At present there is no cure for MND but riluzole, a glutamate blocker, delays progression.4 The majority of people with MND die within two to three years of diagnosis but 25% live for five years and 10% are alive after ten years.1 The usual cause of death is respiratory failure, due to weakness of the respiratory muscles and diaphragm. With the increasing use of ventilator support – non-invasive ventilation (NIV) or rarely invasive ventilation with a tracheostomy – life may be extended, although the progressive disability continues.
The management of MND is complex and requires a timely and coordinated multidisciplinary approach. Several guidelines have been published – including the European Federation of Neurological Societies Guideline (EFNS) on ALS5 and the Practice Parameter of the American Academy of Neurology.6 Moreover, a European Consensus document from the European Academy of Neurology and the European Association for Palliative Care has emphasised the need for palliative care and an holistic approach to people with all progressive neurological diseases.7 The aim of these guidelines has been to emphasise the areas of care that may improve quality and length of life of patients, and their carers.
In 2016, the National Institute for Health and Care Excellence (NICE) in the UK developed an evidence-based guideline on MND.8 These were based on a Scoping Exercise undertaken by NICE, involving many stakeholders, including patient and family groups. As a result of this exercise, 21 questions were chosen, looking at the care of someone with MND from before diagnosis to end of life care.
The Guideline was undertaken by the National Guideline Centre and a literature review was undertaken for each question and the evidence then reviewed by a multidisciplinary Guideline Development Group (GDG). The reviews included both qualitative and quantitative studies, with prioritisation given to randomised controlled trials if they were available. The reviews extracted and summarised the data, assessing the studies for bias, imprecision and consistency using the GRADE system.9 Recommendations were made from the evidence, and if there was a lack of clarity in the evidence or no evidence available, the GDG made recommendations by consensus.
The recommendations are summarised in Figure 1. They all aim to improve the care for people with MND and provide the best evidence-based care. The primary recommendation is for the care to be coordinated by a clinic-based multidisciplinary team (MDT), which would see patients on a regular basis, usually every two to three months but with ability to see patients earlier if they have new concerns, or less often if the disease is only progressing slowly. The assessment would look at:
- Pain and other symptoms
- Cognition and behaviour
- Psychological needs
- Social care needs
- End of life issues
- Information and support needs
- Person with MND
Moreover the team would have the following membership:
- Neurologist, with knowledge and
- expertise in the care of MND
- Specialist MND nurse
- Occupational therapist
- Respiratory healthcare professional
- Speech and language therapist
- Palliative care expertise – may be one of the team members or a specialist
- There would be close liaison with other disciplines and teams for particular needs, such as wheelchair or equipment provision, gastrostomy insertion, further assessment.
This multidisciplinary approach has been shown to both improve quality of life and extend life, independently of other management.10–12 One study showed that the median survival of patients attending the MDT was 19 months, whereas the median survival of patients attending a general clinic was 11 months.10 Thus it would seem that the MDT, with professionals who have a specialist knowledge and understanding of MND, is beneficial to patients and families, and the NICE guidance has strongly recommended this approach.
The NICE guidance gives the opportunity for all involved in the care of MND – commissioners, hospital and community services, neurology and rehabilitation and patients and families – to work to improve the care of patients and families. This is strengthened by the publishing of NICE Quality Standards. These are prioritised statements designed to drive forward measurable improvements in quality – safety, patient experience and effectiveness of care. The Quality Standards on MND are:
- Information and support at diagnosis “Adults with MND are given information about the diagnosis, prognosis and management of MND by a consultant neurologist with expertise in treating people with MND”13
- Respiratory assessment and NIV)“ Adults with MND who have respiratory impairment are offered non-invasive ventilation based on regular assessments of respiratory function and symptoms”13
- Provision of equipment and adaptions, based on multidisciplinary team assessment “Adults with MND receive tailored equipment and adaptions without delay, based on regular MDT assessments”13
- Continuity of care “Adults with MND receive personal care and support from a consistent team of workers who are familiar with their needs”13
- Planning for end of life care “Adults with MND are given opportunities to discuss their preferences and concerns about end of life care at diagnosis and at key stages of disease progression”.13
These standards can be monitored and measured so that commissioners and providers of services are able to see if they are meeting the standards. It is hoped that this will allow continued improvement of care services, so that patients and families have an improved quality of life.
MND is a rare disease, which due to the progressive deterioration may lead to severe disability and many complex problems – physical, psychological, social and spiritual. There is a need for a holistic multidisciplinary approach to support patients and their families. The NICE guidelines, and other guidelines across the world, allow the development of an evidence-based approach to care, with the aim of improving both quality and length of life of patients and the support of them and their families.
The author acknowledges the involvement in the formation of the Guideline of the Guideline Development Group and the technical team at the National Clinical Guideline Centre. The views expressed in this publication are those of the author and not necessarily those of NICE.
1 Shaw C, Quinn A, Daniel E. Amyotrophic lateral sclerosis/motor neurone disease. In: Oliver D, Borasio G, Johnston W (eds) Palliative Care in Amyotrophic Lateral Sclerosis – From Diagnosis to Bereavement, 3rd edn. Oxford, Oxford University Press;2014.
2 Abrahams S et al. Screening for cognition and behaviour changes in ALS. Amyotroph Lateral Scler Frontotemporal Degener 2014;15:9–14.
3 Turner M, Swash M. the expanding syndrome of amyotrophic lateral sclerosis: a clinical and molecular odyssey. J Neurol Neurosurg Psychiatry 2015;86:667–73.
4 Bensimon G et al. A controlled trial of riluzole in amyotrophic lateral sclerosis. N Engl J Med 1994;330:585–91.
5 Andersen PM et al. The EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis. EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) – revised report of an EFNS task force. Eur J Neurol 2012;19:360–75.
6 Miller RG et al. Practice parameter: the care of the patient with amyotrophic lateral sclerosis (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology: ALS Practice Parameters Task Force. Neurology 1999;52(7):1311–23.
7 Oliver DJ et al. A consensus review on the development of palliative care for patients with chronic and progressive neurological disease. Eur J Neurol 2016;23:30–8.
8 National Institute for Health and Care Excellence. Motor neurone disease: assessment and management. NICE Guideline NG 42. www.nice.org.uk/guidance/NG42 (accessed February 2017).
9 Guyatt GH et al. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. BMJ 2008;336:924–6.
10 Aridegbe T et al. The natural history of motor neuron disease: Assessing the impact of specialist care. Amytroph Lat Scler 2013;14:13–19.
11 Traynor BJ et al. Effect of a multidisciplinary amyotrophic lateral sclerosis (ALS) clinic on ALS survival: a population based study, 1996–2000. J Neurol Neurosurg Psychiatry 2003;74(9):1258–61.
12 Rooney J et al. A multidisciplinary clinic approach improves survival in ALS: a comparative study of ALS in Ireland and Northern Ireland. J Neurol Neurosurg Psychiatry 2015;86:496–503.
13 National Institute for Health and Care Excellence. Motor neurone disease: Quality Standards. QS126. www.nice.org.uk/guidance/qs126/chapter/List-of-quality-statements (accessed February 2017).