Children with neuromuscular disease are susceptible to hypoventilation and secretion retention leading to respiratory infection. They require regular respiratory assessment and can benefit hugely from home ventilation and sophisticated physiotherapy. We see our patients twice a year and perform cardiorespiratory polygraphy at least once a year.
BTS guidelines for the respiratory management of children with neuromuscular weakness have recently been published and are available here
Important messages from this guideline are listed below:
Identifying children at risk of respiratory complications
• Clinical assessment of respiratory health should be part of every medical consultation for children with neuromuscular weakness (NMW) and should be directed towards identifying progressive muscle weakness, ability to cope with respiratory infection, aspiration, progression of scoliosis and sleep-disordered breathing. [D]
• Vital capacity should be measured in all patients with neuromuscular disease who are capable of performing spirometry as part of the respiratory assessment. [C]
• Cough peak flow should be used as part of the assessment of effective secretion clearance in children with neuromuscular disease over the age of 12 years.
• Assessment for sleep-disordered breathing should be carried out no less than annually for children with neuromuscular disease who have a vital capacity of 60% predicted and for children who have become non-ambulant because of progressive muscle weakness or who never attain the ability to walk. [D]
• Assessment for sleep-disordered breathing should be carried out no less than annually for all infants with weakness, children with NMW who have symptoms of obstructive sleep apnoea or hypoventilation, children with clinically apparent diaphragmatic weakness and children with rigid spine syndromes. [•]
• In young children whose rate of disease progression is uncertain, or in older children who have shown a clinical deterioration or who are suffering with repeated infections, or who develop symptoms of sleep-disordered breathing, sleep assessment may need to be more frequent than once a year. [•]
• All children with abnormal overnight oximetry should undergo more detailed sleep monitoring with at least oxycapnography. [•]
When there is doubt about the cause of sleepdisordered breathing, overnight polysomnography or sleep polygraphy should be performed. [•]
• Portable overnight oxycapnography or polygraphy in the home may be the most appropriate option for some patients. [•]
• Children with neuromuscular diseasewith a history of swallowing difficulties should have a feeding assessment by a speech and language therapist including a video fluoroscopy swallow assessment if the swallow is thought to be unsafe. [•]
Airway clearance and respiratory muscle training
• Children with ineffective cough (including children over 12 years of age with cough peak flow < 270 litres/min), particularly if they have had episodes of deterioration with respiratory infection, should be taught augmented cough techniques. [C]
• Manual cough assist and air-stacking methods to achieve maximum insufflation capacity are effective methods of improving cough efficiency and should be used when appropriate. [C]
Mechanical insufflation/exsufflation (MI-E) should be considered in very weak children, those with loss of bulbar function, and those who cannot cooperate with manual cough assist or air-stacking or in whom these methods are not effective. [C]
• Oscillatory techniques such as high-frequency chest wall oscillation and intrapulmonary percussive ventilation should be considered in children who have difficulty mobilising secretions or who have persistent atelectasis, despite use of other airway clearance techniques. [D]
• Airway clearance techniques should be used during respiratory infection when oxygen saturation levels fall below 95% while the child is breathing room air. If the techniques being used fail to result in an increase in oxygen saturation to 95% or above, different methods of airway clearance should be used. This may require attendance at hospital for treatment. [D]
• MI-E should be available in the acute setting in all hospitals that treat neuromuscular patients as an alternative method of airway clearance with the purpose of preventing deterioration and the need for intubation and mechanical ventilation. [D]
• Nebulised normal saline may be considered in children who have continued tenacious secretions. [•]
Humidification should be considered in children who use non-invasive ventilation (NIV) and who have tenacious airway secretions. Care should be taken to ensure that use of humidification does not result in a troublesome increase in oral secretions. [•]
• When using sputum mobilising techniques, appropriate emergency equipment (eg, resuscitation bag and suction) should be available in case of mobilising large mucus plugs into the central airways where they may result in airways obstruction. [•]
• Children who use regular night-time or diurnal NIV should use their ventilator to support deep breathing during airway clearance treatments. Use of NIV during airway clearance sessions can help prevent respiratory muscle fatigue. [•]
• Children who use MI-E for airway clearance should be given long enough periods of rest during treatment sessions to prevent respiratory muscle fatigue due to coughing. [•]
At the end of a treatment session with MI-E it is important to complete the session with an insufflation to leave the child with an appropriate functional residual capacity. [•]
Assisted ventilation
• Children with NMW resulting in symptomatic nocturnal hypoventilation or daytime hypercapnia should be supported with NIV. [C]
• A non-invasive approach should be considered in children needing daytime ventilation. [D]
• Clinical teams caring for children using home ventilators should become familiar with a small number of machines. For most children pressure-targeted machines work well and are simple to use. [?]
• Ventilation modes with fixed inspiratory times are usually the most appropriate for use in young or very weak children. [•]
• For older teenage children who need to use mouthpiece ventilation during the day, and/or who use air-stacking as a way of assisting cough, volume-targeted or hybrid ventilators may be preferred. [•]
When full face masks are used, anti-asphyxia valves should be fitted to allow room air breathing in case of ventilator failure. The risks of the child vomiting and aspirating should be considered, particularly if the child is unable to remove the mask on their own. [•]
• Children needing ventilatory support for more than 16 h perday should be provided with two ventilators in case of equipment failure. [•]
Once a child has become established on NIV, a sleep polygraphy or oxycapnography should be carried out to check that it has effectively abolished sleep-associated hypoventilation. Ventilator settings should be adjusted and rechecked as necessary. [D]
• Children supported by NIV should be assessed regularly with repeat sleep studies to ensure continued effectiveness of NIV at preventing hypoventilation. The frequency of review will vary according to clinical circumstances, but should not be less than every 12 months. [D]
• Assessment for skin injury and facial flattening should be carried out regularly in children using NIV and the mask interface adjusted as necessary to minimise these complications. [•]
• Tracheostomy tubes should be carefully sized and sited to ensure the tip of the tube does not abut the tracheal wall. [•]
• Family and child preference should be taken into account when considering tracheostomy to facilitate diurnal ventilation. [•]
• Oxygen alone should not be used to correct hypoxaemia caused by hypoventilation in patients with neuromuscular disease. [•]
• NIV should be the first-line treatment for children with NMW in acute respiratory failure. [D]
• Intensive care units caring for children with NMW should be aware of appropriate extubation criteria. These should include the presence of only minimal airway secretions, use of effective airway clearance methods (such as MI-E devices) and oxygen saturation more than 94% without supplemental oxygen for more than 12 h. Continuous NIV should be used immediately after extubation. [•]
Planning for surgical procedures
• Surgery in children with NMW should take place in units with experienced paediatric surgeons, anaesthetists and physiotherapists, and where there are facilities for paediatric intensive care and NIV. [D]
• Extubation protocols for high-risk children (those with vital capacity 60% predicted and/or ineffective cough and/or already use NIV for hypoventilation) should include effective airway clearance techniques and immediate use of noninvasive ventilation following extubation. [•]
• Children with NMW who require surgery (including scoliosis surgery) should be assessed by a multidisciplinary team prior to any intervention. [•]
Scoliosis
• The effect of wearing a spinal brace on respiratory function should be assessed and weighed against the limited evidence of benefit in terms of affecting final scoliosis severity. [D]
• The primary consideration when planning surgery for children with scoliosis associated with NMW should be comfort and quality of life. [•]
• Other problems and interventions that impact on respiratory health
• Videofluoroscopy and feeding advice from a specialist therapist is indicated in children with a history of recurrent chest infection or swallowing difficulties. [•]
• A problem-orientated approach to nutrition should aim to minimise risk of aspiration, optimise nutritional status, promote comfort and balance the positive social consequences of continued oral feeding. [•]
Transition to adult care
• A key worker can act as a valuable advocate, a source of knowledge and provide support for young people with neuromuscular disease and their families during the period of transition from paediatric to adult services. [•]
Quality of life and palliative care
• Evaluating the child and parent or carer using multidimensional health-related quality of life assessment tools should be the standard for routine assessment in clinical practice and future clinical trials. [D]
• International standardised disease-specific tools for children and young people with neuromuscular disorders should be used if available to evaluate clinical interventions and patientrelated outcome measures with respect to quality of life. [D]
• Assisting patients, parents and carers to make informed choices that are consistent with their own values and preferences requires physicians to engage patients and their parents and carers in a process of mutual participation in decision-making with full disclosure of all information in a sensitive and timely fashion. [D]
• Open discussion across the multidisciplinary team regarding the type and duration of specific interventions encourages transparency and shared decision-making. [•]
• Benefit and burden of all interventions must be considered with respect to impact on mental health of patients and their families. [D]
• Acknowledgement of stress factors and mental health issues, requirement for wider support through organizations, and practical and focused individual care are needed for patientsand their parents or carers. [D]
• Routine pain evaluation should be part of standard clinical assessment in all children and young people with neuromuscular disorders. [D]
• Attention to the wider physical impact of chronic illness through vigilant symptom management is required. [D]
• Dyspnoea is a subjective feeling, which can respond to non-drug measures and treatment directed at the cause. [•]
• Low-dose opioids may be used to manage distressing breathlessness even when active treatment is pursued. With slow titration of opioids, respiratory depression is extremely unlikely. [•]
• In the terminal phase of respiratory failure, symptoms must be reassessed frequently and can be effectively managed by a multimodal approach, including careful titration of opioids and psychotropic agents. [•]
• Advance care planning should be an integral part of the active management of children and young people with neuromuscular disorders. Advance care plans can be used as a vehicle for information exchange and considered decision-making. [D]
• Patients and families need to have ownership of the advance care plan and be educated as to its uses. [D]
• Advance care plans should be reviewed by the multidisciplinary team on a regular basis. [•]
• Families need access to skilled experts for multidimensional coordinated palliative care support, providing regular review of their needs at various stages in their condition. [D]
• Generic palliative care skills should be cascaded to other professionals providing neuromuscular services. [•]
Special considerations
• Carers and parents of children with severe NMW, including all those using NIV and all those with tracheostomy, should have basic life support training. [•]
• Written plans for the management of acute exacerbations, which include details of effective airway clearance methods and ventilator settings when appropriate, and contact details of relevant healthcare professionals are recommended. [•]