Evidence

Evidence

Evidence

Evidence

A study of 49 adults requiring ventilation via endotracheal or tracheostomy tubes with a range of neuromuscular problems found that patients with an assisted CPF<160 litres/min could not be successfully extubated or decannulated,66 suggesting that a CPF≥160 litres/min is required to effectively clear secretions and maintain airway patency. A subsequent study of 157 invasively ventilated adults and an unspecified number of children, including 139 patients intubated for acute respiratory failure, reported a 100% success rate for extubation for patients with CPF≥160 litres/min67 and an 80% success rate for patients with CPF<160 litres/min. The reasons suggested for the improved success rate in patients with very low CPF were greater staff and patient experience of mechanical cough assist devices and NIV and a requirement for the patient's oxygen saturation levels to be 95% or greater for 12 h prior to an extubation attempt, rather than the previous level of 92%. Three studies in adults with NMW have shown that an assisted or unassisted CPF over 270 litres/min is sufficient to protect against acute respiratory deterioration associated with respiratory infection.39 ,68 ,69 The likely reason for the higher CPF required to protect against respiratory deterioration is the fall in respiratory muscle strength that is known to occur in patients with NMW during acute infection.70 This means that a CPF<270 litres/min when the patient is well may fall below the critical level of 160 litres/min during an infective exacerbation, leading to secretion retention and respiratory failure. In a study of children and adults with DMD, a vital capacity of <2.1 litres best predicted a CPF<270 litres/min.71

Care should be taken when applying CPF thresholds derived from the adult population to children. Standard values for CPF for normal children aged 4–18 years of age have been published.72 The 5th centile CPF ranged from 110 litres/min in 4-year old girls to 518 litres/min in 18-year old boys. In a study of 46 children and young adults with NMW aged from 4 to 20 years (mean age 12.7±3.7 years) CPF<160 litres/min predicted frequency of severe chest exacerbation sensitivity of 75% and specificity of 79%.56 This study used absolute CPF values rather than those corrected for age and height. The value of 160 litres/min is significantly lower than that identified in adults as protective against recurrent chest infections (270 litres/min). There is currently insufficient evidence in children to provide thresholds of absolute CPF values that will reliably predict risk of acute respiratory deterioration. It may be reasonable to apply adult thresholds to older children (those over 12 years of age), particularly those with DMD when vital capacity usually peaks at around 12 years of age.

Evidence statement

• In adults with NMW, a CPF of 160 litres/min is necessary for effective secretion clearance and a CPF of 270 litres/min or more is associated with resilience to respiratory infection. Equivalent age-adjusted values for children are not available (evidence level 3).

Good practice point

• CPF should be used as part of the assessment of effective secretion clearance in children with neuromuscular disease over the age of 12 years. [√]

Evidence

The evidence that daytime blood gases can identify patients with nocturnal hypoventilation comes from two cross-sectional studies. In a small study of 19 patients with DMD age over 12 years (mean 18.6 years), daytime PaCO₂ correlated strongly with total sleep time with oxygen saturations below 90%. A daytime PaCO₂>45 mm Hg predicted nocturnal hypoventilation (arbitrarily defined as oxygen saturation below 90% for >2% of total sleep time) with a 91% sensitivity and 75% specificity.60 In a study of 61 children aged 5–18 years with a heterogeneous group of muscle diseases, a daytime PaCO₂>40 mm Hg predicted nocturnal hypoventilation with a sensitivity of 92% and specificity of 72%.58

Evidence that daytime PaCO₂ can predict survival comes from one study. In a retrospective longitudinal descriptive study of 18 patients with DMD (age over 14 years, median 17.8 years), daytime PaCO₂ correlated with vital capacity and with survival. In stepwise multiple regression analysis for survival, PaCO₂ provided no further predictive value in addition to vital capacity.45

Pulse oximetry

The simplest assessment of sleep-disordered breathing is nocturnal oxygen saturation monitoring. Oxygen saturation traces may be difficult to interpret as apparent desaturation can be a consequence of movement artefact and poor signal. Technically satisfactory oximetry requires a correctly placed probe, typically sampling >60 times/s, with an output averaged over 4–10 s and displayed at 1 s intervals. The data need to be displayed with the plethysmographic waveform to allow the quality of the data to be assessed, and in a format which allows several hours of oximetry to be seen on a single screen and interrogated as necessary.

True oxygen desaturation may be a consequence of OSA or hypoventilation. OSA and hypoventilation occur more frequently in active sleep. If OSA is present, oximetry traces may show a typical saw tooth pattern of repeated cyclical oxygen desaturation in active sleep, whereas there may be periods of sustained oxygen desaturation if hypoventilation is occurring. These patterns are not always present such that OSA and hypoventilation cannot be reliably distinguished from each other using oximetry. Mild OSA may be present even if an oxygen saturation trace is normal,73 and hypercapnia has been reported in children using NIV or continuous positive airway pressure (CPAP) despite normal oximetry (oxygen saturation never <92%).74 Despite these observations, the Guideline Committee took the view that clinically significant hypoventilation as a consequence of muscle weakness is unlikely to occur in the absence of desaturation below 93%, and that technically satisfactory oximetry alone is an acceptable method of screening for hypoventilation in asymptomatic children with NMW when carbon dioxide monitoring is not readily available. The Committee would not recommend oximetry alone as a means of monitoring the effectiveness of ventilation in children using NIV, nor was it felt to be sufficient to exclude sleep-disordered breathing in symptomatic children. Oxygen saturation monitoring has been shown to be feasible at home in patients with DMD.75

Oxycapnography

Portable devices that can perform transcutaneous carbon dioxide measurement enable simple testing for oxygen and carbon dioxide monitoring during sleep. Periods of sustained oxygen desaturation coupled with sustained hypercapnia in active sleep strongly suggest hypoventilation, although this pattern is also possible in the context of severe OSA. Carbon dioxide measurements can be obtained using end-tidal or transcutaneous devices. Some transcutaneous devices allow simultaneous measurement of carbon dioxide and oxygen saturation and are suitable for subjects of all ages, including adults. In a retrospective review of 609 paediatric patients who had had PSG, transcutaneous carbon dioxide correlated well with end-tidal carbon dioxide measurements.76

Respiratory polygraphy (cardiorespiratory sleep studies)

The complexity of sleep polygraphy (cardiorespiratory sleep studies) varies between institutions. The core measurement channels include oximetry with plethysmograph signal, transcutaneous or end-tidal carbon dioxide monitoring, ECG, chest and abdominal inductance bands for assessment of thoraco-abdominal breathing patterns, movement probe and nasal flow (detected either by nasal thermistor or pressure sensor). Other channels may include sleep position and video monitoring.

Sleep assessment in children may contain significant artefact, because of poor compliance with equipment and movement in sleep. The advantage of more complex studies is that more detailed information is collected, and artefact can be more easily excluded. The most important channel for identifying artefact is the oximetry plethysmograph which gives a measure of reliability to the oximetry value. Disadvantages of more complex studies include poor tolerance of intrusive equipment, which may interfere with the quality of the overall study. Nasal flow measurements can be particularly intrusive and may be counterproductive in some patients.

Polysomnography

PSG involves monitoring of sleep with continuous EEG, electromyogram and electrooculogram in addition to comprehensive monitoring of cardiorespiratory function (oximetry with plethysmograph signal, carbon dioxide monitoring, ECG, chest and abdominal inductance bands, nasal flow, movement probe, sleep position and video monitoring). Full PSG provides information about sleep efficiency and sleep quality as well as detailed characterisation of respiratory patterns and abnormalities.

Timing and frequency of overnight monitoring

There is some evidence that vital capacity is a valuable predictor of nocturnal hypoventilation, as discussed above. The other indications for assessment of sleep-associated hypoventilation suggested in table 5 are based on the expert opinion of the Guideline Committee.

There are no studies that evaluate how frequently sleep studies should be performed. The American Thoracic Society Consensus Statement for DMD suggests annual assessment.77 In young children whose rate of disease progression is uncertain, or in older children who have shown a clinical deterioration or are suffering with repeated infections, sleep assessment may need to be more frequent than once a year.

Sleep data should be interpreted by an experienced reporter with appropriate training in sleep medicine. Most centres in the UK will have a dedicated sleep physiologist responsible for interpreting sleep studies.

Evidence

Evidence that overnight sleep monitoring can be used to predict progression in neuromuscular disease comes from two studies. In a randomised controlled trial of NIV versus no treatment in 26 patients with neuromuscular or chest wall disease who had nocturnal hypercapnia but daytime normocapnia, control patients progressed to daytime hypercapnia and/or progressive symptoms within 2 years.78 In a retrospective longitudinal descriptive study of 18 non-ventilated patients with DMD (age >14 years, median 17.8 years), the minimum PaO₂ measured at night in a group of adolescents with DMD correlated with subsequent survival.45

Evidence

Four observational studies81–84 in a total of 57 children with DMD, congenital myopathy or congenital muscular dystrophy using a combination of clinical assessment and VFSS have shown that VFSS is often abnormal in children with NMW, but that it does not always correlate with symptoms. In one study of 14 children with merosin-negative muscular dystrophy, five children who had either laryngeal penetration or tracheal aspiration shown on VFSS underwent gastrosotomy and stopped feeding orally, with subsequent weight gain a reduction of respiratory exacerbations.81 Of 24 boys and young men with DMD assessed because of a history of swallowing difficulties or choking and recurrent chest infections, there was no evidence of tracheal aspiration on VFSS.82 ,84

Good practice point

• Children with neuromuscular disease with 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. [√]

Standard chest physiotherapy

Standard chest physiotherapy consists of postural drainage and manual techniques (percussion and vibrations). Chest percussion (chest clapping) is carried out using a hand, fingers or face mask and is generally well tolerated and widely used in small children and babies and may be effective in infants with NMW combined with nasopharyngeal suction. Chest vibrations involve the application of a rapid extra thoracic force at the beginning of expiration, followed by oscillatory compressions until expiration is complete. The compression and oscillation applied to the chest are believed to aid secretion clearance by increasing peak expiratory flow to move secretions towards the large airways for clearance by suction or a cough. Care needs to be applied with these techniques in infants when the chest wall is very compliant and the closing volume of the lung is high, as this can induce atelectasis. Greater benefit from standard chest physiotherapy may be achieved if the patient is able to take a deep breath. Deep breathing can be supported using non-invasive ventilators or by using intermittent positive pressure breathing (IPPB) devices.

Intrapulmonary percussive ventilation

Intrapulmonary percussive ventilation (IPV) is a modified method of IPPB which superimposes high-frequency mini bursts of air (100–300+ cycles per minute) on the individual's intrinsic inspiratory and expiratory breathing pattern. This creates an internal vibration (percussion) within the lungs and promotes secretion clearance.

High-frequency chest wall oscillation

High-frequency chest wall oscillation (HFCWO) can be provided by intermittent compression of the chest wall using an inflatable jacket or cuirass adjusted to fit snugly over the thorax, using frequencies of 5–20 Hz. Vibration of the chest wall produces oscillatory airflow which in turn promotes mobilisation of secretions from the peripheral airways towards the mouth. With IPV and HFCWO there is the potential to mobilise a large volume of secretions and therefore it is important to ensure that the appropriate emergency equipment (eg, resuscitation bag and suction) is available in case of mobilising a large mucus plug into a central airway.

Incentive spirometry

IS devices are designed to mimic natural sighing or yawning by encouraging the patient to take long, slow, deep breaths. This is accomplished by using a device that provides patients with visual or other positive feedback when they inhale at a predetermined flow rate or volume and sustain the inflation for a minimum of 3 s. The objectives of this procedure are to increase inspiratory volumes, improve inspiratory muscle performance, and re-establish or simulate the normal pattern of pulmonary hyperinflation. The device is often used in the postoperative period.

Augmented cough

Augmented cough methods are a key part of effective airway clearance in children with NMW. They have two components—first to increase inspired volume and second to increase the expiratory forces applied to the inspired volume; both components can be shown to increase expiratory flow rates during coughing.

When bulbar muscle function is adequate to hold the glottis closed, inspiratory lung volumes can be increased using a number of techniques. The maximum insufflation capacity (MIC) is the maximum volume of air stacked within the patient's lungs beyond spontaneous vital capacity. MIC is attained when patients take a deep breath, hold their breath and then air-stacking is applied using a bag-valve mask device, a volume-cycled ventilator or glossopharyngeal breathing. When bulbar dysfunction prevents effective breath-holding, passive insufflation methods can be used. This can be achieved using an adapted bag-valve mask system with a closed expiratory port (lung volume recruitment bag),85 with MI-E devices, or with a volume-cycled ventilator set to deliver a single inspiratory volume close to the predicted inspiratory capacity.86 When passive methods are used, the inspiratory volume achieved is called the lung insufflation capacity. Glossopharyngeal breathing consists of a series of 6–10 pumping strokes produced by the action of the lips, tongue, soft pallet, pharynx and larynx. Air is held in the chest by the larynx, which acts as a valve as the mouth is opened for the next breath.87 ,88 This represents the breathing pattern of a frog and is also known as ‘frog breathing’. In addition to improve cough efficiency, glossopharyngeal breathing may have a role in enabling patients using daytime ventilation to have ventilator-free time. Some patients will have taught themselves to glossopharangeal breath to maintain self-ventilation during the day.

Expiratory airflow can be increased in children with NMW by compression of the chest wall or abdomen, sometimes called a manually assisted cough. Synchronous compression of the abdomen when the patient coughs causes a sudden increase in abdominal pressure; this causes the abdominal contents to push the diaphragm upwards, increasing expiratory airflow.89 ,90 This technique can be combined with air-stacking to achieve greater expiratory airflow during coughing.

MI-E devices clear secretions by applying a positive pressure to the airway (insufflation), then rapidly shifting to negative pressure (exsufflation). The rapid shift in pressure produces a high expiratory flow of 6–11 litres/s (360–660 litres/min), simulating a natural cough.

Evidence

Evidence

There are no studies that have assessed the effects of respiratory muscle training in children or adults with neuromuscular disease on the clinically important outcomes of maintenance of ventilatory function over time, or on the reduction of respiratory exacerbations.

There are five randomised controlled studies of respiratory muscle training in a total of 107 children and adolescents with NMW which assessed changes in respiratory muscle strength and/or endurance as outcome measures.119–123 Most study subjects had DMD; the remainder had SMA type 2 or 3. The training usually consisted of daily inspiratory and/or expiratory manoeuvres against a resistive load with a placebo arm using similar exercises without resistive loads. Training was carried out for 1–6 months. Three studies showed improvements in respiratory muscle strength and three studies showed improvements in respiratory muscle endurance. In one study the magnitude of improved respiratory endurance was correlated with total training time over a 6-week period.122 Duration of improvement in respiratory muscle strength was variable, returning to baseline 3 months after cessation of training in one study119 and persisting for 6 months in another.123 In the study by Wanke and colleagues, there was no improvement in respiratory muscle strength after 4 weeks training in a subgroup of five subjects who had a vital capacity of <25% predicted and/or daytime hypercapnia.123 No studies showed an improvement in lung volumes associated with respiratory muscle training.

There are two longer-term observational studies (9 and 24 months' duration) assessing the effects of respiratory muscle training on mixed population of 43 children and young adults with DMD and SMA.124 ,125 Both studies showed sustained improvements in respiratory muscle strength and endurance while training was maintained. The study subjects had a wide range of baseline lung function (vital capacity 27–100% predicted). Response to respiratory muscle training was not dependent on starting baseline vital capacity. There was no improvement in vital capacity associated with respiratory muscle training. Koessler and colleagues showed no fall in vital capacity over 2 years in their group of 27 boys with DMD.124 The absence of a control group makes interpretation of this observation difficult. There was no evidence of increased muscle damage caused by training in either study.

Evidence statement

• Respiratory muscle training can improve respiratory muscle strength and endurance in children and young adults with DMD (evidence level 1–).

Evidence

Ventilator types

There is a wide range of home ventilators suitable for use in children with NMW. The two main ventilator types are pressure-targeted ventilators and volume-targeted ventilators. Some (more expensive) hybrid machines can operate in volume-targeted and pressure-targeted modes, and some can deliver a pressure-targeted volume-assured mode. There are no long-term studies comparing clinically important outcomes (symptom control, hospital admission, survival) for different modes of ventilation.

Early home ventilation devices were volume targeted, and delivered a preset tidal or minute volume, and volume-targeted machines are still preferred by some centres. A major benefit of volume-targeted machines is the ability to use the ventilator to assist with air-stacking as part of assisting coughing techniques. Although volume-targeted ventilators have the potential to deliver known tidal volumes, most machines have a limited capacity to correct for leaks (either around the mask or through the mouth if a nasal mask is used) and this can lead to under-ventilation.

Pressure-targeted ventilators tend to be lighter and cheaper than volume-targeted machines. Pressure-targeted ventilators are designed to increase flow until peak pressure is reached, which means that they effectively compensate for all but the largest leaks. Pressure-targeted ventilators use a single limb circuit with exhaled gas usually being vented through ports near the face or nasal mask. There is the potential to re-breathe carbon dioxide if airflow is low during expiration,145 and for this reason, a minimum end expiratory pressure of 4 cm H₂O when using pressure-targeted ventilation is advisable. If hypercapnia persists despite otherwise adequate ventilation, and is thought to be related to re-breathing of carbon dioxide, a low-resistance expiratory valve can be added to the circuit.

Ventilator modes

A variety of different modes of ventilation are available using pressure-targeted and volume-targeted ventilators. There are two common modes used in neuromuscular patients; one whereby the patient can trigger a supported breath, but cannot control the inspiratory time—this mode is variously called spontaneous/timed, assist/control or pressure-control ventilation; and one whereby the patient can trigger a supported breath and control the length of the breath—this mode is called pressure-support ventilation. The purpose of having different modes is to try and maximise patient–ventilator synchrony and patient comfort and to minimise respiratory work. During pressure-support ventilation, inspiration continues after a breath is triggered or initiated by the ventilator until inspiratory flow falls to a preset level, or for a maximum of 3 s. This can be the most comfortable mode of ventilation in adults, but is not suitable for most small children with small tidal volumes. Fauroux and colleagues146 bench-tested the performance of 17 ventilators used for home NIV, using a lung model. The sensitivity of the expiratory (and inspiratory) trigger of most of the ventilators was ineffective for infants and for older children when there was a leak in the circuit. The inability of the ventilator to detect the child's expiratory effort will result in long and uncomfortable inspirations. For these children ventilator modes with a fixed inspiratory time are more effective and better tolerated.

Although the need for a back-up rate has not been demonstrated by clinical trials, clinical experience shows that most children with NMW who are effectively ventilated during sleep will breathe at the back-up rate, with ventilator-initiated, rather the patient-triggered breaths.

Starting NIV

In children with clinically stable conditions, nocturnal NIV can be established gradually in the home setting over a period of several nights, building up the time the child uses on the ventilator, with support usually from a specialist nurse practitioner. For many children the indication for NIV will be symptomatic hypoventilation, and relief from these symptoms is usually sufficient to persuade both the child and the parents of the value of continuing with the treatment. It is therefore important that if the initial pressure or volume settings chosen are low, to promote tolerance to the ventilator, they are increased quickly to those likely to provide effective ventilation.

Evidence

There is one study that has compared the effectiveness of NIV started in the inpatient setting to that started in the outpatient setting.147 This was a randomised trial of 28 children and adults starting NIV for symptomatic nocturnal hypoventilation. Fourteen patients started NIV as inpatients (median length of hospital stay was 4 days) and 14 as outpatients (one or two outpatient visits). All patients received follow-up advice by telephone. When assessed 2 months later, there was no difference in improvement of nocturnal gas exchange, compliance with ventilator use, or QOL between the two groups.

Evidence statement

• Children with stable disease can be started on NIV without need for admission to hospital (evidence level 1–).

Good practice points

• 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 per day should be provided with two ventilators in case of equipment failure. [√]

Leaks

Leaks are inevitable when delivering ventilation via mask interfaces and are a common reason for NIV to be ineffective and to be poorly tolerated. Leaks around the mask can be minimised by careful mask selection. There is now a wide variety of paediatric masks, including nasal pillows, nasal masks or full face masks. The choice of interfaces for infants remains limited. Mouth leaks when using a nasal mask can be reduced either by a chin strap or by switching to a full face mask.

Humidification

Humidification is generally not required in children using NIV at night-time only. In children using NIV during the day and at night, humidification may be helpful in preventing drying of secretions and may improve tolerability. The most effective humidification is provided by heated tube humidification systems.

Evidence

There are no studies on the optimum frequency and nature of monitoring for children using NIV.

Three studies in adults report the effects of leaks in patients using nocturnal ventilation.148–150 Air leaks were found in all patients, and in one study of NIV volume-targeted ventilation an average of 25% of the ventilator-delivered breaths were lost to air leak. In another study, switching patients to ventilators with leak adjustment led to improvements in morning arterial carbon dioxide levels. In a small study of six adults using pressure-targeted ventilation, 60–90% of arousals during sleep occurred after a period of leak, and the leak stopped temporarily after the arousal. Oxygen saturation was maintained by leak compensation in all but one patient, suggesting mechanisms such as increased airflow were the cause of the arousal rather than hypoxaemia.

Evidence statement

• Air leaks are common in patients using nasal mask NIV and can result in incomplete correction of nocturnal hypoventilation and sleep disturbance (evidence level 3).

Recommendations

• 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]

Skin breakdown

Break down of the skin, usually on the bridge of the nose or forehead, can occur when using nasal or face-mask ventilation. Prevention is better than cure, and careful attention to mask fitting, and avoidance of over-tight straps is usually sufficient to keep the contact areas healthy. It is better to allow a small leak around the mask, than to have it overly tight. When red patches are seen after mask use, these should be dealt with promptly before the skin breaks down. Use of wound care tape, particularly those made of hydrocolloid material, is often helpful. Forehead spacers can also reduce the pressure of the mask on the nasal bridge. A wide range of commercial masks are now available for older children and changing the mask to one which avoids the area of skin damage is usually possible. This is more difficult for infants in whom there is a much more limited choice of interfaces. Custom-made masks are associated with a lower incidence of skin injury.151

Mid-face hypoplasia

Pressure from the nasal or face mask used for NIV on the growing face can result in under-development of the maxilla, leading to mid-face flattening and mal-occlusion of the teeth. There are no large studies indicating the incidence of this problem, nor how it should be managed. Fauroux and colleagues151 report a survey of 40 children using NIV or CPAP for at least 4 weeks. Global facial flattening was seen in 68% of children. Twleve per cent were described as having a concave facial appearance. Facial flattening did not appear to be associated with type of mask, age or duration of use. Maxillary retrusion was seen in 37% of children, and this was associated with how many hours the mask was worn each day. One case report describes how a nasal mask was successfully modified to allow orthodontic treatment in a 7-year old girl who has used nocturnal NIV from the age of 9 months.152 Full face masks which avoid pressure on the maxilla may also be effective in managing maxillary retrusion.

Good practice point

• 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. [√]

When should a tracheostomy be considered?

• Severe bulbar dysfunction. When there is severe bulbar dysfunction resulting in frequent aspiration, tracheostomy may be necessary to allow more effective airway clearance.

• Failure to extubate. After an acute exacerbation has led to a period of invasive ventilation and extubation has failed despite optimal management for 2 weeks or more.

• When ventilatory support is needed for more than 16 h per day.

• When there is failure to correct hypoxaemia or hypercapnia with NIV.

• Severe mid-face hypoplasia not correctable by adjusting the NIV interface.

The preferences of the family, child or young person and the experience of the clinical team need to be taken into account when making this decision. Tracheostomies have the advantage of leaving the face free, making social interaction and eating easier and providing direct access for suction. They also provide a more secure interface for patients who are ventilator dependent.

Tracheostomy complications

Use of tracheostomy in young children with severe NMW can result in immediate loss of autonomous breathing, possibly because loss of laryngeal function results in an inability to maintain an effective functional residual capacity. Very weak children with tracheostomies are also less likely to be able to speak than those supported on NIV. In surveys of adults needing daytime ventilation some clearly prefer NIV to tracheostomy (the converse is also true), and tracheostomy ventilation may be associated with more respiratory symptoms and more frequent hospital admission than similar patients using NIV.

Adverse effects of tracheostomies include increased respiratory secretions and respiratory infections, dysphagia, granuloma formation and tracheo-arterial fistulas with catastrophic haemorrhage.153 ,154 Most of these problems can be minimised by using a well fitting flexible tracheostomy tube, centred in the tracheal lumen. Tracheostomy tubes are more likely to rub against the tracheal wall when the airway is distorted, such as in children with scoliosis. Tracheal erosions can be exacerbated by unsupported ventilator tubing pulling on tracheostomy tubes and inappropriate tracheal suction. Flexible endoscopy can be used to check that end of the tracheostomy tube is centred in the trachea and that the trachea is healthy.

Evidence

There are three studies that compare outcomes in patients with diurnal respiratory failure supported by tracheostomy or NIV. Soudon and colleagues144 compared the clinical course of 16 patients with DMD managed with tracheostomy ventilation (mean age 32.7 years) with that of 26 patients using NIV (mean age 27 years). Over a 5-year period there was no difference in mortality. Sixty per cent of the patients with tracheostomy had problems related to the tracheostomy—mainly related to suction and granuloma formation. Patients in the tracheostomy group had more chest infections (38% in the tracheostomy group vs 8% in the NIV group). Loss of weight and need for gastric feeding appeared less frequent in the tracheostomy group. Bach and colleagues155 carried out a postal questionnaire of 654 adult patients using home ventilation. Of the patients with DMD, 33 were using NIV for more than 16 h per day and 24 were ventilated via a tracheostomy. There was a lower rate of hospital admissions in the patients using NIV (0.2 admissions per patient per year vs 0.6 admissions per patient per year; p<0.05). Similar results were seen when comparing NIV with tracheostomy ventilation for patients with other forms of myopathy. There were no apparent differences in bulbar function or duration of ventilator use between those using tracheostomy ventilation and NIV.

Bach and colleagues94 describe the outcome of 74 infants with SMA type 1 in a non-randomised study. Forty-seven children were managed with NIV and 27 had tracheostomies. Patient care was otherwise similar between the two groups, including provision of home oximeters and mechanical cough assist devices, with appropriate training and protocols for their use. The follow-up period was a mean of 5 years. Twenty-five out of the 27 patients with tracheostomy lost autonomous breathing immediately after the tracheostomy procedure. Of the 47 patients using NIV, 32 used it only during sleep, 6 required it for more than 16 h/day and became hypercapnic and dyspnoeic when not using it, and 9 required it continuously, with little or no breathing autonomy. All patients required NIV continuously during upper respiratory tract infections. Mortality in the two groups was similar (5/27 in the tracheostomy group and 8/47 in the NIV group), most attributable to sudden death at home or related to respiratory infection. Hospitalisation was more frequent in the NIV group in the first 3 years—1.6 admissions per patient per year compared with 0.4 admissions per patient per year in the tracheostomy group. After the age of 5 years hospital admission was unusual in either group (0.1 admissions per patient per year). The 47 children in the NIV group underwent a total of 194 intubations for respiratory failure—a substantial burden. More of the children in the NIV group could communicate verbally (34/47 vs 6/27 in the tracheostomy group).

Two studies have assessed patient choice with respect to NIV or tracheostomy ventilation. Bach156 reported the findings from 168 adults who used home ventilation (mean age 55 years), most of whom were polio survivors with non-progressive disease, who had used both tracheostomy ventilation and NIV, each for at least 1 month. At the time of the survey 111 patients were using tracheostomy ventilation and 59 were using NIV. Of the 111 patients using tracheostomy ventilation, 49 expressed a preference for NIV, 42 for tracheostomy and 14 had no preference. Of the 59 patients using NIV, all preferred NIV over tracheostomy ventilation. Markstrom and colleagues157 assessed QOL by postal questionnaires in 91 adults (mean age 59 years) using home ventilation for restrictive lung disease, including 16 patients with neuromuscular disease. Sixty patients used NIV and 31 used tracheostomy ventilation. The QOL scores, using two out of three different measures, were no different between the NIV and tracheostomy groups. For the third measure of QOL there was a significantly better score in the tracheostomy group, but the difference between the groups was small (NIV group score 25.2±3.6 compared with 27.8±3.7 in the tracheostomy group; possible scores range from 9 to 36).

Good practice points

• 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. [√]

Evidence

There are no studies on the use of negative pressure ventilation in children with neuromuscular disease.

Evidence

There is only one study on the use of oxygen therapy in patients with hypoventilation due to NMW.159 This was an observational study of seven young adults with DMD with normal daytime blood gases. Six subjects had significant desaturation episodes at night, mainly during REM sleep. Oxygen therapy was effective at preventing desaturation in five out of six subjects. In all subjects use of oxygen was associated with a significant increase in the duration of REM-associated apnoea and hypopnoea.

Evidence statement

• Although low flow oxygen overnight can reduce sleep hypoxaemia in subjects with nocturnal hypoventilation, it is associated with prolongation of underlying sleep hypopnoea and apnoeic events (evidence level 3).

Good practice point

• Oxygen alone should not be used to correct hypoxaemia caused by hypoventilation in patients with neuromuscular disease. [√]

Evidence

The evidence that NIV can be used to manage acute respiratory failure without the need for intubation in children and young people with NMW comes from five observational studies on a total of 55 subjects, age range 3 months to 69 years, 48 known to be under 25 years.160–164 In 46 of the 60 episodes of acute respiratory failure affecting patients under 25 years of age, NIV was successful and intubation was not required. In one of the studies,162 NIV was combined with cricothyroid mini-tracheostomy to facilitate secretion clearance. Failure of NIV was associated with bulbar dysfunction and difficulty clearing airway secretions. The methods used for airway clearance methods are poorly described, and the impact of effective airway clearance, for example, with mechanical cough assist devices, on the success rate of NIV in the management of acute respiratory failure is not known.

The evidence that NIV can facilitate extubation in children with NMW comes from three observational studies on a total of 25 children (age 2 months to 17 years).92 ,161 ,165 The majority of the children had been intubated and ventilated following an episode of acute respiratory failure; two had been intubated as part of anaesthesia for surgery. Twenty-two of these children were successfully extubated using NIV either as a transition to self-ventilation or to long-term nocturnal use of NIV for respiratory support. Bach and colleagues92 describe a protocol for the management of intubated children with severe muscle weakness. The key elements of this protocol are limited requirement for suction and no requirement of supplemental oxygen prior to extubation, frequent airway clearance using MI-E before and after extubation, and extubation to continuous NIV. Nine children with severe SMA had 28 episodes of respiratory compromise resulting in 48 intubation events. Extubation using conventional weaning methods was successful in two out of 20 attempts compared with 23 out of 28 attempts using the protocol (p<0.001).92 The same protocol has been successfully used in a 157 adults and children with a wide range of myopathic conditions, including 25 with SMA and 20 with DMD.67 These subjects were unable to pass conventional trials of spontaneous breathing prior to extubation.

Evidence statements

• NIV is a safe and effective therapeutic option for treatment of acute respiratory failure in children with neuromuscular diseases (evidence level 3).

• NIV can facilitate endotracheal extubation in children with NMW (evidence level 3).

Recommendation

• NIV should be the first-line treatment for children with NMW in acute respiratory failure. [D]

Good practice point

• 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. [√]

Vital capacity as an indicator of respiratory morbidity

The evidence that vital capacity can predict risk of postoperative respiratory complications comes from four retrospective studies of a total of 173 children with NMW, mainly DMD, undergoing scoliosis surgery.172–175 In all four studies the likelihood of remaining intubated and ventilated for more than 3 days after surgery was higher in children with lower preoperative vital capacity. In one study of 48 teenagers with DMD, all boys with a preoperative vital capacity of more than 50% predicted were extubated immediately after surgery without complications.172 In another study of 125 children with scoliosis, 57 of whom had neuromuscular disease, a preoperative vital capacity of <60% predicted the need for prolonged ventilation (>3 days) with sensitivity of 77% and specificity of 56%.174

A low vital capacity does not preclude good outcome from surgery. One descriptive study reports successful extubation immediately after scoliosis surgery in 14 consecutive subjects with DMD with preoperative vital capacity of <30% predicted.176 In this study all 14 boys were admitted to hospital 6 weeks prior to surgery and underwent daily inspiratory muscle training, which appeared to result in a small increase in vital capacity: from 21.6%, range 16–27% on admission to 26.2%, range 22–31% on the day before surgery. Two retrospective studies177 ,178 of a total of 75 children with DMD undergoing scoliosis surgery report no difference in duration of intubation (all <24 h) or total days in hospital after surgery in the 33 children who had preoperative vital capacity of <30% predicted compared with those with vital capacity >30%. Routine postoperative use of NIV was considered vital to facilitate successful early extubation.178 Gill and colleagues179 report successful outcomes for scoliosis surgery on eight children (mean age 12 years) with a variety of neuromuscular disorders, who had a mean preoperative vital capacity of 20% and all of whom were established on NIV for nocturnal hypoventilation. All patients were extubated direct to NIV without complication.

Predicting respiratory risk in children unable to do lung function

There is only one study which addresses preoperative assessment in children with NMW who are unable to perform lung function manoeuvres.180 In this retrospective study 110 children (10.8±4.9 years), including 62 with neuromuscular disease, undergoing scoliosis surgery had preoperative PSG—73 children had daytime (nap) PSG and 39 had overnight PSG. None of the PSG parameters predicted risk of prolonged ventilation. Nap PSG does not usually include REM sleep, and so may underestimate hypoventilation and thereby miss parameters that may be useful in predicting postoperative risk.

Peak cough flow

The evidence for peak cough flow as a predictor of difficulty with extubation is based on adult studies and is considered in the section on identifying children at risk of respiratory complications.

Evidence statements

• Children with NMW who have preoperative vital capacity of <60% predicted have increased risk of prolonged postoperative ventilation (evidence level 3).

• Use of NIV in the immediate postoperative period facilitates early extubation and reduces respiratory complications (evidence level 3).

• Surgery can be successfully carried out with appropriate perioperative care without increased respiratory complications in children with severe NMW and vital capacity <30% predicted (evidence level 3).

Recommendations

• 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 who already use NIV for hypoventilation) should include effective airway clearance techniques and immediate use of NIV following extubation. [D]

Good practice point

• Children with NMW who require surgery (including scoliosis surgery) should be assessed by a multidisciplinary team prior to any intervention. [√]

Effect of bracing on lung function

The evidence that wearing a brace reduces lung function comes from four observational studies of a total of 47 children with NMW and scoliosis, caused by a variety of diseases (predominantly DMD and SMA). Three studies showed a mean reduction in vital capacity of approximately 20% (range 4–37%) when wearing a spinal brace.182–184 One study of eight children with severe SMA found that wearing a brace decreased tidal volume, increased respiratory rate and reduced respiratory system compliance.185

Effect of bracing on progression of scoliosis

The evidence for the effect of bracing on progression of scoliosis comes from four uncontrolled observational studies of children with DMD and SMA.20 ,186–188 Evans and colleagues187 report a retrospective series of 54 children with SMA types 1–3, 43 of whom developed scoliosis. Bracing failed to control progression of scoliosis in children with severe weakness (types 1 and 2) but appeared to control progression in give children with less severe disease (SMA type 3). Cambridge and Drennan188 report that in 32 boys with DMD, spinal orthoses slowed the progression of scoliosis from an average of 16° per year to around 10° per year, but did not affect the final severity of scoliosis (average severity Cobb angle of 75°) in 30 out of the 32 subjects. Brooke and colleagues20 report a retrospective review of 283 boys with DMD and 10 with BMD over a 10-year period. Eighty-nine of 120 patents (75%) over 11 years of age developed a scoliosis, 43 of whom had Cobb angles of >30°. The use of thoraco-lumbar braces did not appear to affect the progression of scoliosis and there was a positive correlation between increasingly severe scoliosis and the duration of brace use. The authors noted that compliance with brace wearing was poor. Seeger and colleagues186 report that in 24 boys with DMD, scoliosis progressed from a mean value of approximately 10° for children under 12 years to a mean of 75° by the age of 16–18 years and noted that the scoliosis severity in boys using modular seats, spinal jackets (worn 7 h per day) and custom-moulded seats were not significantly different from those observed using unmodified wheelchair seats. Colbert and Craig (1987)189 report a prospective study of 22 boys with DMD, 7 who wore a brace (for 7 h/day, 6 days/week) and 15 who did not (either refused or stopped wearing the brace within 3 months). Over an observation period ranging from 2 to 7 years, the wearers showed a slightly slower rate of scoliosis progression, but with no difference in final severity.

Evidence statements

• Wearing a rigid spinal bracing causes a reduction in both tidal ventilation and vital capacity in children with neuromuscular disease (evidence level 3).

• In boys with DMD, bracing may slow the progression of scoliosis, but does not affect final scoliosis severity (evidence level 3).

Effect of scoliosis surgery on lung function

The evidence of the effect of scoliosis on vital capacity is based on 13 studies of a total of 481 children with NMW, almost all with DMD or SMA. Three studies190–192 compared the rate of decline of vital capacity before and after surgery in the same individuals; five studies172 ,193–196 compared the rate of decline to a non-operated group comprised either of children who did not yet need surgery, children in whom surgery was considered too high risk, or children who refused surgery; and five studies26 ,179 ,197–199 compared a single preoperative mean vital capacity to one taken 2 or more years after surgery. Eight of the studies26 ,172 ,179 ,190 ,192 ,194 ,198 ,199 indicate that the rate of decline of vital capacity was reduced after surgery, or that vital capacity was maintained close to preoperative levels. Five studies191 ,193 ,195–197 found that the rate of decline of lung function was unaffected by surgery or was the same as that in a control group.

All the studies are retrospective. When there are control groups they are not matched. Without comparison to an appropriate control group it is hard to interpret changes in rate of decline of vital capacity, which are nonlinear and may plateau in late teenage years.

Recommendation

• 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]

Good practice point

• The primary consideration when planning surgery for children with scoliosis associated with NMW should be comfort and QOL. [√]

Evidence

Gastrostomy feeding

Six observational studies describe gastrostomy insertion in patients with a range of neuromuscular conditions. Two retrospective case note reviews212 ,213 identified a total of 45 patients with a range of neuromuscular conditions in whom feeding via gastrostomy improved the weight for age ratio during the 1-year follow-up period. In one of the studies, the number of documented chest infections diminished after gastrostomy insertion.212 In the other study, local complications at the gastrostomy site were reported in 6 of 12 patients, all of which resolved swiftly. Three of five patients who had presented with previous gastro-oesophageal reflux had persistent problems post procedure, and despite medication, all developed at least one episode of pneumonia.212 Martigne and colleagues214 described an increase in the body weight for age ratio in 25 patients with DMD aged 11–38 years. Nutritional recovery was considered slow or incomplete as only 9 of 25 patients attained or exceeded their median value for weight/age ratio 1 year post gastrostomy placement. The complication rate in this study was also high (84%) with 11 of 21 patients suffering complications within the first month, comprising a pneumo-peritoneum (3), abdominal parietal abscess (2), pneumonia due to presumed food aspiration (1) and local infection, general abdominal pain, nausea and vomiting. Fourteen patients subsequently had complications after the first month resulting in problems around the stoma (10), tube migration (2), and accidental extrusion (1). Ten patients had pneumonia after gastrostomy placement but due to the retrospective nature of the study, it was difficult to ascertain whether the episodes were due to aspiration. Durkin and colleagues200 describe the course of laparoscopic fundoplication and gastrostomy in 12 infants with SMA type 1, in whom postoperative respiratory management and discharge criteria were standardised. All patients were extubated immediately postoperatively, with no significant complications. The average time to full feeding and length of hospital stay were 42±4.9 h and 78±22.5 h respectively. Mean weight for length percentile was doubled at a year postoperatively (p=0.03). Sy and colleagues205 identified 12 children with SMA type 1 who had percutaneous gastrostomy or gastrojejunostomy insertion at a median age of 6.1 months (range 2.2–15.8 months); four children tolerating the procedure under local anaesthetic, and six children with sedation. General anaesthetic was required for two children, both of whom were already intubated. Seven of 12 children had no major complications in the first 30 days, although the tube was changed to a gastrojejunostomy tube because of gastro-oesophageal reflux disease in two children. The 30-day mortality rate was 16.7%. Aspiration pneumonia occurred in 5 of 12 children (41.6%) within 30 days of their procedure, although four children had a history of pneumonia prior to tube placement. Bach and colleagues204 describe the procedure of open gastrostomy for ventilator-assisted or supported patients avoiding tracheostomy, intubation or general anaesthesia. The procedure was performed in 62 adult NIV users, with amyotrophic lateral sclerosis (n=44), muscular dystrophy (n=10) and other conditions (n=8), using local anaesthetic and intravenous sedation. There were no complications and all patients subsequently gained weight. Mean post-gastrostomy survival was 38.8 months (±6.2 months).

Evidence statement

• Gastrostomy feeding can improve and maintain adequate nutrition in children with NMW (evidence level 3).

Respiratory tract infection

The negative impact of respiratory infection in patients with neuromuscular disease is demonstrated by one prospective study of a mixed population of 25 adults and children aged between 7 and 40 years (mean age 20 years) with varying neuromuscular conditions, but stable respiratory status.70 Follow-up was continued for a month following complete resolution of symptoms of the respiratory tract infection. Significant reductions of up to 50% were noted in vital capacity and maximal inspiratory and expiratory pressures (mean reductions 50.1%, 51.5% and 26.8% respectively) in the 10 subjects who developed respiratory tract infections. Respiratory parameters remained reduced in two patients and significant episodes of hypercapnia continued in four patients, post infection. There is evidence that severe RSV infection in infants with neuromuscular disorders leads to considerable morbidity and higher mortality. A prospective cohort study215 covering six consecutive seasons evaluated whether children hospitalised with RSV infection with a clinically relevant NMW were at risk of complications. In total, 1568 RSV infections were prospectively documented in 1541 children. Forty-one of 73 (56%) children with NMW had at least one additional risk factor for a severe course of the infection. Median age at the time of severe RSV infection was higher in children with NMW (14 months vs 5 months) and a higher proportion of children in the NMW group had to be mechanically ventilated (9.6% vs 1.9%). The attributable mortality was also significantly higher in the NMW group (5.5% vs 0.2%; p<0.001 for all). A cohort study over an 8-year period using intensive care unit admission as a marker of severity of RSV infection found that a considerable proportion of children had serious underlying conditions.216 Of the 4.4% deaths directly related to RSV infection, all had pre-existing conditions, 15% with neuromuscular disease. Although annual influenza vaccination is frequently advocated for high-risk groups, the evidence for efficacy in these groups is sparse. One prospective study217 has investigated whether children with neurological or neuromuscular disease had an increased risk of respiratory failure if hospitalised with viral influenza. This study of community-acquired and laboratory-confirmed influenza, conducted over four seasons, showed that children with neurological (n=81) or neuromuscular impairment (n=8) were, on average, six times more likely to develop respiratory failure requiring ventilation, although removing the children with a diagnosis of ‘recurrent febrile seizures’ reduced the OR to just 1.5.

Evidence

Additional health problems occurring in young adults with NMW are illustrated in three observational studies. Birnkrant221 reports that of 19 young men with DMD, 18 received assisted ventilation (16 NIV) of whom 12 received 24 h ventilatory support; 15 had undergone gastrostomy placement for poor nutrition and/or difficulties swallowing; 6 had nephrolithiasis; 2 had developed diabetes mellitus; 2 had a deep venous thrombosis; and 1 each had gallstones and inflammatory bowel disease. A survey of 65 Danish adults with DMD aged 18–42 years222 describes daily life positively, although the majority yearn for a loving relationship and few have the opportunity to undertake further educational or vocational opportunities. Pain is common, occurring in 40% of subjects on a daily basis, coupled with frequent fatigue. This evidence concurs with results from a study of 42 youths with neuromuscular disease224 in which 23 (55%) were identified as having chronic pain, mainly in the legs and with 83% using pain medication.

Only one observational study specifically evaluated the current practices of transition for young people with neuromuscular disorders, from a district in the UK, comparing experiences with the current Department of Health guidelines.225 Responses to questionnaires were obtained from 21 young adults and 17 carers (54% response rate). Two focus groups were held to obtain views, with a number of key themes emerging. Young people expressed the need for information resources and access to information on adult services, with identification of a key worker. They expressed a preference for transition to occur at aged 18 years, but that the current transition practice was too abrupt and should be a more gradual process.

Experience has shown that for practical reasons, transition at 18 years poses difficulties, as children's wards and paediatric intensive care units do not usually accept those over 16 years. Therefore if an acute inpatient stay is required before transition commences, admission to an adult ward can result in a precipitous and unsatisfactory handover of care to adult teams. A survey of 32 neuromuscular clinics across 25 cities in the UK219 highlighted the variability in practice and availability of resources and services. Responses were received from 30 clinicians based in 24 locations, with the majority of clinics based in large regional centres. Only 11 clinics (42%) requiring transfer of services to adult care had a service in place to do so, excluding clinics where the same team saw adults and children. A total of 32% of neuromuscular disease clinics did not routinely monitor respiratory function and 10% did not routinely perform ECG, suggesting variable pathways for referral. Domiciliary support was fully funded in 43% and on an individual basis in 50%. There was inconsistent access to therapy and nursing services and long waits for wheelchair provision. Many clinicians had a poor awareness of local services.

Evidence statements

• For young people with a neuromuscular disorder, particularly DMD, the teenage years are a period when their condition can change considerably, and new health problems may emerge, thereby increasing the importance of a smooth handover from child-orientated to adult specialist services (evidence level 3).

• There is considerable variability across the UK in current practice and availability of resources and services for people with neuromuscular disease (evidence level 3).

• Young people with neuromuscular disease feel that components of a successful transition revolve around information, communication and planning over a number of years (evidence level 3).

Good practice point

• 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. [√]

Evidence

The Paediatric Quality of Life Inventory (PedsQL) tool has established reliability and validity within the wider paediatric population, although it is a generic research tool. This QOL tool contains both age-related and parental report. Iannaccone and Hynan226 have validated the PedsQL for children with SMA and Bray and colleagues227 have used the PedsQL (generic scale) in boys with DMD. Further data228 support the feasibility, reliability and validity of the tool in children with SMA. These studies demonstrate poor to moderate agreement between child and parent responses, suggesting information provided by proxy respondents is not equivalent to that reported by the affected child.

There is now significant evidence229–233 that physicians often underestimate quality of life compared with patients and parents or carers. Studies show that parental decision-making regarding treatment is directly related to perception of QOL.234 ,235 Understanding HRQOL from the perspective of the patient is essential to facilitate shared decision-making with healthcare professionals and parents or carers.

In spite of the prevalent perception that patients with severe physical impairment or chronic disease experience lower QOL than non-disabled persons, recent studies targeting self-perception have shown that QOL in patients with a progressive neuromuscular condition is not correlated with physical impairment or the need for NIV.235–245

Evidence statements

• Physicians often underestimate QOL compared with patients and parents or carers (evidence level 3).

• Proxy parent or carer QOL reports are not equivalent to those reported by patients (evidence level 2–).

• Despite severe physical disability, children and young people with neuromuscular disorders report an acceptable QOL (evidence level 2–).

Recommendations

• Evaluating the child and parent or carer using multidimensional HRQOL 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 patient-related outcome measures with respect to QOL. [D]

Evidence

Several studies233 ,246–248 demonstrate significant worldwide variation in attitudes and practice of physicians regarding respiratory management of patients with SMA type 1. Withholding and withdrawing life-sustaining ventilator assistance in this condition is accepted as standard medical practice by many physicians. Others advocate full long-term ventilatory support.

Some studies248 ,249 have shown a paternalistic approach to ‘rationing’ the use of ventilatory support, particularly in DMD, with concern that such support may ‘prolong dying’ and ‘extend suffering’ and poor QOL. More encouraging results250–252 have shown physicians offering choice regarding ventilatory support; however this is often reported as being during an episode of respiratory failure. Yates and colleagues253 reviewed data for 28 children with neuromuscular disease admitted to the intensive care units over 15 years and found that 66% of admissions (47/69) were unplanned; 11 of the 28 children admitted as an emergency for respiratory failure required ventilatory support after discharge from the intensive care unit and 6 of these continued on home support. One study of 13 infants with SMA type 1 describes the use of NIV and MI-E to support clearly defined, goal-orientated care.96 This approach facilitated extubation and home discharge with positive feedback from parents. Parents and carers have reported that they should be given the choice to decide for or against home mechanical ventilation. Stressors were related to poor support in the context of financial and practical assistance.235

Evidence statement

• Respiratory failure is usually predictable. Paternalistic medical advice can result in either uninformed implementation or withholding of ventilatory treatments. Lack of informed choice and equity of service prevents planning and limits decision-making (evidence level 3).

Recommendation

• 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]

Good practice point

• Open discussion across the multidisciplinary team regarding the type and duration of specific interventions encourages transparency and shared decision-making. [√]

Evidence

The acknowledgement of stress factors and need for wider support is borne out in studies that have surveyed families of patients with DMD.234 ,254–257 Mental health and behavioural issues are perceived to be important, particularly as boys grow older. Parents show increased levels of anxiety and depression and self-reported poor psychological adjustment, particularly single parents and those with older sons. Carers of boys with DMD using home ventilation rated sleep quality as poor and reported associated negative emotional symptoms and illness burden on family health and relationships.245 The functional level of the child is directly related to maternal stress and QOL.258 Parents report a sense of loss each time they see physical signs of deterioration.235 A small study by Hodges and Dibb259 regarding the use of DMD self-help support groups uncovered a wide range of social comparisons and coping dimensions with positive and negative effects.

Evidence statement

• Living with a neuromuscular condition increases mental health issues and stress factors in affected children and parents or carers, although both groups exhibit considerable adaptive ability (evidence level 2–).

Recommendation

• 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 organisations, and practical and focused individual care are needed for patients and their parents or carers. [D]

Evidence

Evidence

Chatwin and colleagues96 describe using advance care plans in a series of infants with SMA type 1 to assist in anticipatory decision-making regarding escalation in ventilatory support. Erby and colleagues257 report that none of the 18 parents of boys with DMD (aged over 7 years) interviewed acknowledged having explicit conversations about advance care plans within their families or with their sons or physicians. Parents did not have a working knowledge of the concept of advance care planning and attributed the process to ‘do not resuscitate’ orders.

Wiener and colleagues266 discussed advance care plans with a group of 20 adolescents with life-shortening illness and found that 95% thought the document would be ‘helpful’ or ‘very helpful’ to themselves or others. No patients found talking about the issue stressful but were more interested in discussing how they wanted to be remembered rather than medical decision-making.

Unplanned admission to intensive care units may be a trigger point for discussion; Yates and colleagues253 found that 36% (10 out of 28) children with neuromuscular disease had died following admission to intensive care units and 70% were in the severe functional group. Two case series252 ,267 report on positive experiences of children and young adults with DMD in the formulation of life plans, regardless of the decision made about long-term ventilator assistance. A case study of a boy with DMD by Penner and colleagues268 describes the ethics of disclosure and emotionally charged challenges surrounding advance care plans.

Evidence statement

• Advance care plans and similar approaches may be useful for children and young adults with a progressive neuromuscular condition in helping to anticipate need and prevent crisis management and last minute decision-making (evidence level 3).

Recommendations

• 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]

Good practice point

• Advance care plans should be reviewed by the multidisciplinary team on a regular basis. [√]

Evidence

Older studies269 ,270 suggest that the palliative care model has much to offer individuals with progressive neuromuscular conditions and their families. Children and young people with neuromuscular disease, especially those with DMD, form a large proportion of the cases cared for by the children's hospices in the UK.261 Most support is multidimensional. Planned stays allow access to peer support and social activities that are often curtailed or restricted in the wider community as a consequence of disability. Referrals peak for DMD in adolescence at a time when those with DMD are losing ambulation and when patients often have greater physical and emotional needs.

Recommendation

• 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]

Good practice point

• Generic palliative care skills should be cascaded to other professionals providing neuromuscular services. [√]