SERIES: ETHICS IN PAEDIATRIC RESPIRATORY MEDICINE
Ethical aspects of home long term ventilation in children with neuromuscular disease

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Summary

Increasing numbers of children and young adults are now receiving home ventilation. Whereas in some neuromuscular conditions the outcome and quality of life gains are clear cut; in others eg Spinal Muscular Atrophy Type I there are a few outcome studies with conflicting results and it is more difficult to balance the ethical concepts of beneficence, non-maleficence, autonomy and distributive justice. As a result there are widespread variations in the clinical management of these children. This article examines decision-making in these areas seen from the perspective of the individual, the family and society.

Section snippets

INTRODUCTION

The ethical dimension to any clinical problem can be analysed by balancing the provision of health benefit (in quantitative or qualitative terms) against harm caused to the individual. Patient/family involvement in decision-making is vital but concepts of autonomy, futility and societal justice sometimes come into conflict. The problems encountered in individuals with neuromuscular disease range from simple to more complex dilemmas. For example, there would be little debate about ventilating a

Outcome

Spinal muscular atrophy is the second commonest autosomal recessive inherited condition and is characterised by loss of motor neurones. About 35% of SMA patients are the Type I proximal variant. In functional terms, infants with Type I SMA are unable to sit but it is also helpful to subdivide them into those who gain head control and those who are the most profoundly affected, who do not. SMA is caused by mutations in the Survival Motor Neuron (SMN) gene, of which there are normally two copies

Outcome

Substantial improvement in survival in DMD patients has been reported over the last three decades. Much of this is attributable to the use of non-invasive ventilation. In a single centre cohort 85% and 73% of DMD patients survived 1 and 5 years, respectively, after the initiation of NIV at an average age of 20 years.10 Eagle et al.11 have reported the survival of successive cohorts of young DMD patients from 1967 to 2002. Mean survival by Kaplan Meir survival analysis has shown decade-on-decade

Type I SMA

A poll of American paediatricians and other colleagues’ recommendations for management of Type 1 SMA showed that 70% would offer NIV but only 23% would recommend it and 7% neither offered or recommended NIV.15 These figures for tracheostomy ventilation were 48%, 38% and 14%, respectively. A tracheostomy would be offered and recommended by 29% but offered and not recommended by 47%. Twenty four percent would not offer a tracheostomy. It was clear from this report that the management offered by

DECISION-MAKING – WHOSE PERSPECTIVE?

Decisions should be reached mutually by the family/patient and medical team and should favour the child's best interests. However, the ramifications of that decision need to be viewed from the perspective of the affected individual, the family and society as a whole.

Informed decisions cannot be made if full information is not disclosed. This may be influenced by physician beliefs as illustrated in Type I SMA. Also, Gibson17 found an association between disclosure of the use of ventilatory

DEALING WITH UNCERTAINTY

This is a fundamental problem because although general information on survival can be provided, it is very difficult to assess on an individual basis. The clinical picture becomes clearer with time, but will also depend on a number of unpredictable factors such as the timing of acute respiratory tract infections which, although inevitable, can never be predicted. It is important to share this uncertainty, since giving overconfident predictions which are not borne out by subsequent events

NEGOTIATED CARE PLANS

All treatment options that are relevant should be discussed. It is perfectly reasonable for the physician to give a view on these, but he/she should explain what has informed that view. Where possible it is sensible to offer options that may prevent decision-making taking place in acute, uncontrolled circumstances. For example providing a bilevel ventilator in children with Type I SMA may allow families to use this at the time of acute infections and at night if sleep disordered breathing is

REFERENCES (24)

  • J. Melki et al.

    Gene for chronic proximal spinal muscular atrophies maps to chromosome 5 q

    Nature

    (1990)
  • V. Dubowitz

    Disorders of the lower motor neurone: the spinal muscular atrophies

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