Building a home ventilation programme: population, equipment, delivery and cost.

Home mechanical ventilation (HMV) improves quality of life and survival in patients with neuromuscular disorders (NMD). Developing countries may benefit from published evidence regarding the prevalence, cost of equipment, technical issues and organisation of HMV in NMD, facilitating the development of local turn-key HMV programmes. Unfortunately, such evidence is scattered in the existing literature. We searched Medline for publications in English and French from 2005 to 2020. This narrative review analyses 24 international programmes of HMV. The estimated prevalence (min-max) of HMV is ±7.3/100 000 population (1.2-47), all disorders combined. The prevalence of HMV is associated with the gross domestic product per capita in these 24 countries. The prevalence of NMD is about 30/100 000 population, of which ±10% would use HMV. Nocturnal (8/24 hour), discontinuous (8-16/24 hours) and continuous (>16/24 hours) ventilation is likely to concern about 60%, 20% and 20% of NMD patients using HMV. A minimal budget of about 168€/patient/year (504€/100 000 population), including the cost of equipment solely, should address the cost of HMV equipment in low-income countries. When services and maintenance are included, the budget can drastically increase up to between 3232 and 5760€/patient/year. Emerging programmes of HMV in developing countries reveal the positive impact of international cooperation. Today, at least 12 new middle, and low-income countries are developing HMV programmes. This review with updated data on prevalence, technical issues, cost of equipment and services for HMV should trigger objective dialogues between the stakeholders (patient associations, healthcare professionals and politicians); potentially leading to the production of workable strategies for the development of HMV in patients with NMD living in developing countries.

Routine lung volume recruitment in boys with Duchenne muscular dystrophy: a randomised clinical trial.

BACKGROUND: Impaired cough results in airway secretion retention, atelectasis and pneumonia in individuals with Duchenne muscular dystrophy (DMD). Lung volume recruitment (LVR) stacks breaths to inflate the lungs to greater volumes than spontaneous effort. LVR is recommended in DMD clinical care guidelines but is not well studied. We aimed to determine whether twice-daily LVR, compared with standard of care alone, attenuates the decline in FVC at 2 years in boys with DMD. METHODS: In this multicentre, assessor-blinded, randomised controlled trial, boys with DMD, aged 6-16 years with FVC >30% predicted, were randomised to receive conventional treatment or conventional treatment plus manual LVR twice daily for 2 years. The primary outcome was FVC % predicted at 2 years, adjusted for baseline FVC % predicted, age and ambulatory status. Secondary outcomes included change in chest wall distensibility (maximal insufflation capacity minus FVC) and peak cough flow. RESULTS: Sixty-six boys (36 in LVR group, 30 in control) were evaluated (median age (IQR): 11.5 years (9.5-13.5), median baseline FVC (IQR): 85% predicted (73-96)). Adjusted mean difference in FVC between groups at 2 years was 1.9% predicted (95% CI -6.9% to 10.7%; p=0.68) in the direction of treatment benefit. We found no differences in secondary outcomes. CONCLUSION: There was no difference in decline in FVC % predicted with use of twice-daily LVR for boys with DMD and relatively normal lung function. The burden associated with routine LVR may outweigh the benefit. Benefits of LVR to maintain lung health in boys with worse baseline lung function still need to be clarified. TRIAL REGISTRATION NUMBER: NCT01999075.

Health Care Use, Costs, and Survival Trajectory of Home Mechanical Insufflation-Exsufflation.

BACKGROUND: Despite expert recommendations for use, limited evidence identifies effectiveness of mechanical insufflation-exsufflation (MI-E) in addressing respiratory morbidity and resultant health care utilization and costs for individuals with neuromuscular disorders. We examined the impact of provision of publicly funded MI-E devices on health care utilization, health care costs, and survival trajectory. METHODS: This is a retrospective pre/post cohort study linking data on prospectively recruited participants using MI-E to health administrative databases to quantify outcomes. RESULTS: We linked data from 106 participants (8 age < 15 y) and determined annualized health care use pre/post device. We found no difference in emergency department (ED) visit or hospital admission rates. Following MI-E approval, participants required fewer hospital days (median [interquartile range] [IQR]) 0 [0-9] vs 0 [0-4], P = .03). Rates of physician specialist visits also decreased (median IQR 7 [4-11] vs 4 [2-7], P < .001). Conversely, rates of home care nursing and homemaking/personal support visits increased. Following MI-E, total costs were lower for 59.4%, not different for 13.2%, and higher for 27.4%. Physician billing costs decreased whereas home care costs increased. Regression modeling identified pre-MI-E costs were the most important predictor of costs after approval. At 12 months, 23 (21.7%) participants had died. Risk of death was higher for those using more medical devices (hazard ratio 1.12, [95% CI 1.02-1.22]) in the home. CONCLUSIONS: Provision of publicly funded MI-E devices did not influence rates of ED visits or hospital admission but did shift health care utilization and costs from the acute care to community sector. Although increased community costs negated cost savings from physician billings, evidence suggests costs savings from reduced hospital days and fewer specialist visits. Risk of death was highest in individuals requiring multiple medical technologies.

MuSK not MNGIE: Atypical MuSK-antibody myasthenia presenting as a genetic disorder.

Myasthenia gravis is a treatable autoimmune disease caused by autoantibodies directed against membrane proteins at the neuromuscular junction. While acetylcholine receptor antibodies are most common, a minority of patients have antibodies directed against muscle-specific kinase (MuSK-antibody). Differentiating features often include subacute onset and rapid progression of bulbar, respiratory and neck extensor muscles, with sparing of distal appendicular muscles, most commonly in middle-aged females. Here we present an atypical presentation of MuSK-antibody myasthenic syndrome in a young male consisting of a gradual-onset, insidiously-progressive, non-fatigable and non-fluctuating ocular, bulbar and oesophageal weakness, with a normal frontalis single fibre EMG. This case clinically resembled a mitochondrial myopathy (Mitochondrial Neurogastrointestinal Encephalopathy-MNGIE) with a poor prognosis. Because of the atypical presentation, MuSK antibodies were identified very late in the disease course, at which point the patient responded very well to immunotherapy. We report an unusual presentation of an uncommon but treatable condition, illustrating significant phenotypic heterogeneity possible in MuSK-antibody myasthenic syndrome.

Mouthpiece ventilation in neuromuscular disorders: Narrative review of technical issues important for clinical success.

In neuromuscular disorders (NMDs), nocturnal non-invasive ventilation (NIV) via a nasal mask is offered when hypercapnic respiratory failure occurs. With disease progression, nocturnal NIV needs to be extended into the daytime. Mouthpiece ventilation (MPV) is an option for daytime NIV. MPV represents a difficult task for home ventilators due to rapidly changing load conditions resulting from intermittent connections and disconnections from MPV circuit. The 252nd ENMC International Expert Workshop, held March 6th to 8th 2020 in Amsterdam, reported general guidelines for management of daytime MPV in NMDs. This report could not present all the detail regarding the technical issues important for clinical success of MPV. Based on the expert workshop discussions and the evidence from existing studies, the current narrative review aims to identify the technical issues of MPV and offers guidance via a decisional algorithm and educational figures providing relevant information that is important for successful implementation of MPV.

Education Experiences of Adult Subjects and Caregivers for Mechanical Insufflation-Exsufflation at Home.

BACKGROUND: In 2014, the Ministry of Health of Ontario, Canada, approved a program of public funding for specialist-prescribed mechanical insufflation-exsufflation (MI-E) devices for home use by individuals with neuromuscular respiratory insufficiency. Since 2014, 1,926 MI-E devices have been provided, exceeding device-use projections. Few studies describe the initial and ongoing education and support needs of home MI-E users and their family caregivers. This study aimed to explore the requirements of initial and ongoing education and support for MI-E device use, user confidence, and barriers and facilitators to home MI-E. METHODS: We conducted semi-structured interviews with new (< 6 months) and established (6-48 months) MI-E users and family caregivers. Device users rated their confidence on a numeric rating scale of 1 (not confident) to 10 (very confident). RESULTS: We recruited 14 new and 14 established MI-E users and caregivers (including 9 dyads), and we conducted 28 interviews. Both new and established users were highly confident in use of MI-E (mean ± SD scores were 8.8 ± 1.2 and 8.3 ± 2.1, respectively). Overall, the subjects were satisfied with their initial education, which consisted of a 1-2 h one-on-one session at home or in the clinic with a device demonstration and hands-on practice. Subjects viewed hands-on practice and teaching of caregivers as more beneficial than written materials. Ongoing support for device use was variable. Most subjects indicated a lack of specific follow-up, which resulted in uncertainty about whether they were using the MI-E device correctly or whether MI-E was effective. Facilitators to device utilization were ease of use, initial training, support from formal or informal caregivers, and symptom relief. Barriers were inadequate education on MI-E purpose, technique, and benefit; lack of follow-up; and inadequate knowledge of MI-E by nonspecialist health providers. CONCLUSIONS: The current model of home MI-E education at initiation meets user and caregiver needs. Better ongoing education and follow-up are needed to sustain the benefits through assessment of MI-E technique and its effectiveness.

Clinical Outcomes Associated with Home Mechanical Ventilation: A Systematic Review.

Background. The prevalence of patients supported with home mechanical ventilation (HMV) for chronic respiratory failure has increased. However, the clinical outcomes associated with HMV are largely unknown. Methods. We performed a systematic review of studies evaluating patients receiving HMV for indications other than obstructive lung disease, reporting at least one clinically relevant outcome including health-related quality of life (HRQL) measured by validated tools; hospitalization requirements; caregiver burden; and health service utilization. We searched MEDLINE, EMBASE, CINAHL, the Cochrane library, clinical trial registries, proceedings from selected scientific meetings, and bibliographies of retrieved citations. Results. We included 1 randomized control trial (RCT) and 25 observational studies of mixed methodological quality involving 4425 patients; neuromuscular disorders (NMD) (n = 1687); restrictive thoracic diseases (RTD) (n = 481); obesity hypoventilation syndrome (OHS) (n = 293); and others (n = 748). HRQL was generally described as good for HMV users. Mental rather than physical HRQL domains were rated higher, particularly where physical assessment was limited. Hospitalization rates and days in hospital appear to decrease with implementation of HMV. Caregiver burden associated with HMV was generally high; however, it is poorly described. Conclusion. HRQL and need for hospitalization may improve after establishment of HMV. These inferences are based on relatively few studies of marked heterogeneity and variable quality.

Twenty-four hour noninvasive ventilation in Duchenne muscular dystrophy: a safe alternative to tracheostomy.

BACKGROUND: Almost all patients with Duchenne muscular dystrophy (DMD) eventually develop respiratory failure. Once 24 h ventilation is required, either due to incomplete effectiveness of nocturnal noninvasive ventilation (NIV) or bulbar weakness, it is common practice to recommend invasive tracheostomy ventilation; however, noninvasive daytime mouthpiece ventilation (MPV) as an addition to nocturnal mask ventilation is also an alternative. METHODS: The authors' experience with 12 DMD patients who used 24 h NIV with mask NIV at night and MPV during daytime hours is reported. RESULTS: The mean (± SD) age and vital capacity (VC) at initiation of nocturnal (only) NIV subjects were 17.8±3.5 years and 0.90±0.40 L (21% predicted), respectively; and, at the time of MPV, 19.8±3.4 years and 0.57 L (13.2% predicted), respectively. In clinical practice, carbon dioxide (CO2) levels were measured using different methods: arterial blood gas analysis, transcutaneous partial pressure of CO2 and, predominantly, by end-tidal CO2. While the results suggested improved CO2 levels, these were not frequently confirmed by arterial blood gas measurement. The mean survival on 24 h NIV has been 5.7 years (range 0.17 to 12 years). Of the 12 patients, two deaths occurred after 3.75 and four years, respectively, on MPV; the remaining patients continue on 24 h NIV (range two months to 12 years; mean 5.3 years; median 3.5 years). CONCLUSIONS: Twenty-four hour NIV should be considered a safe alternative for patients with DMD because its use may obviate the need for tracheostomy in patients with chronic respiratory failure requiring more than nocturnal ventilation alone.