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Background and purpose: Late onset Pompe disease (LOPD) is a rare neuromuscular disorder caused by a deficit in acid alpha‐glucosidase. Macroglossia and swallowing disorders have already been reported, but no study has focused yet on its frequency and functional impact on patients' daily life. Methods: We reviewed 100 adult LOPD patients followed in 17 hospitals in France included in the French national Pompe disease registry. The Swallowing Quality of Life Questionnaire and the Sydney Swallow Questionnaire were completed by patients, and a specialist carried out a medical examination focused on swallowing and assigned a Salassa score to each patient. Respiratory and motor functions were also recorded. Subgroup analysis compared patients with and without swallowing difficulties based on Salassa score. Results: Thirty‐two percent of patients presented with swallowing difficulties, often mild but sometimes severe enough to require percutaneous endoscopic gastrostomy (1%). Daily dysphagia was reported for 20% of our patients and aspirations for 18%; 9.5% were unable to eat away from home. Macroglossia was described in 18% of our patients, and 11% had lingual atrophy. Only 15% of patients presenting with swallowing disorders were followed by a speech therapist. Swallowing difficulties were significantly associated with macroglossia (p = 0.015), longer duration of illness (p = 0.032), and a lower body mass index (p = 0.047). Conclusions: Swallowing difficulties in LOPD are common and have significant functional impact. Increased awareness by physicians of these symptoms with systematic examination of the tongue and questions about swallowing can lead to appropriate multidisciplinary care with a speech therapist and dietitian if needed. [ABSTRACT FROM AUTHOR]

BACKGROUND: Breath-stacking, which consists of taking 2 or more consecutive ventilator insufflations without exhaling, is a noninvasive and inexpensive cough-assistance technique for patients with neuromuscular disease. Volumetric cough mode (VCM) is a recently introduced ventilator mode consisting of a programmable intermittent deep breath equal to a set percentage of the baseline tidal volume. Here, our objective was to compare VCM to breath-stacking during volumecontrol continuous mandatory ventilation in subjects on long-term noninvasive mechanical ventilation at home. METHODS: We included 20 subjects with neuromuscular disease causing severe respiratory muscle dysfunction with a cough peak flow (CPF) < 270 L/min or maximum expiratory pressure < 45 cm H2O. Each subject tested breath-stacking and VCM in random order. RESULTS: CPF increased with both techniques but was higher with VCM than with breath-stacking in 16 subjects. In 17 subjects, CPF was highest with the technique that produced the greatest inspiratory capacity. CONCLUSION: Our results indicate that both breath-stacking and VCM are useful cough-augmentation techniques. Displaying insufflated volumes on the ventilator screen is a simple and accessible method for selecting the most efficient cough-augmentation technique delivered by a home ventilator. [ABSTRACT FROM AUTHOR]

BACKGROUND: Duchenne muscular dystrophy (DMD) is a sex-linked genetic disorder in which progressive impairment of skeletal muscle function eventually leads to severe respiratory failure requiring continuous noninvasive ventilation (NIV) at home. A current focus of debate is whether NIV may slow the decline in respiratory function or, on the contrary, worsen respiratory function when started early. Our objective here was to describe the effects of NIV on vital capacity (VC) and maximum respiratory pressures in DMD. METHODS: We analyzed retrospective data from 71 subjects with DMD, including VC, maximum static respiratory pressures, and sniff nasal inspiratory pressure before and after NIV initiation. The declines in these variables from the highest value to the most recent value were computed. RESULTS: Although respiratory function continued to deteriorate over time, NIV introduction was followed by significant slowing in the annual rates of decline in VC (from 4.28 to 1.36 percent predicted), maximum inspiratory pressure (from 2.77 to 1.48 cm H2O), and maximum expiratory pressure (from 2.00 to 1.00 cm H2O). NIV had no effect on sniff nasal inspiratory pressure. CONCLUSIONS: Introducing NIV in subjects with DMD was followed by slowing of the declines in VC and in maximum static inspiratory and expiratory pressures. [ABSTRACT FROM AUTHOR]

Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually evolve in most patients. Additionally, respiratory muscle weakness leads to decreased cough and impaired airway clearance, increasing the risk of acute respiratory illness. Progressive respiratory muscle weakness is a major cause of morbidity and mortality in late-onset Pompe disease even if enzyme replacement therapy has been established. Practical knowledge of how to detect, monitor and manage respiratory muscle involvement is crucial for optimal patient care. A multidisciplinary approach combining the expertise of neurologists, pulmonologists, and intensive care specialists is needed. Based on the authors' own experience in over 200 patients, this article conveys expert recommendations for the diagnosis and management of respiratory muscle weakness and its sequelae in late-onset Pompe disease. [ABSTRACT FROM AUTHOR]

BACKGROUND: Early recognition and an attempt at obtaining microbiological documentation are recommended in patients with non-community-acquired pneumonia (NCAP), whether hospital-acquired (HAP) or health care-associated (HCAP). We aimed to characterize the clinical features and microbial etiologies of NCAP to assess the impact of microbiological investigation on their management. METHODS: This was a prospective 1-y study in a university hospital with 141 non-mechanically ventilated subjects suspected of having HAP (n = 110) or HCAP (n = 31). RESULTS: Clinical criteria alone poorly identified pneumonia (misdiagnosis in 50% of cases). Microbiological confirmation was achievable in 80 subjects (57%). Among 79 microorganisms isolated, 28 were multidrug-resistant aerobic Gram-negative bacilli and group HI Enterobacteriaceae and 6 were methicillin-resistant Staphylococcus aureus. Multidrug-resistant aerobic Gram-negative bacilli accounted for one third of the microorganisms in early-onset HAP and for 50% in late-onset HAP. Methicillin-resistant S. aureus was most often recovered from subjects with HCAP. Inappropriate empirical antibiotics were administered to 36% of subjects with confirmed pneumonia. Forty subjects were admitted to the ICU, 13 (33%) of whom died. Overall, 39 subjects (28%) died in the hospital. CONCLUSIONS: Integrating the microbiological investigation in the complex clinical diagnostic workup of patients suspected of having NCAP is mandatory. Respiratory tract specimens should be obtained whenever possible for appropriate management. [ABSTRACT FROM AUTHOR]

Mouthpiece ventilation (MPV) allows patients with neuromuscular disease to receive daytime support from a portable ventilator, which they can disconnect at will, for example, for speaking, eating, swallowing, and coughing. However, MPV carries a risk of underventilation. Our purpose here was to evaluate the effectiveness of daytime MPV under real-life conditions. Eight wheelchair-bound patients who used MPV underwent daytime polygraphy at home with recordings of airflow, mouthpiece pressure, thoracic and abdominal movements, peripheral capillary oxygen saturation (SpO2), and transcutaneous partial pressure of carbon dioxide (PtcCO2). Times and durations of tasks and activities were recorded. The Apnea–Hypopnea Index (AHI) was computed. Patient–ventilator disconnections ≥3 minutes and episodes of hypoventilation defined as PtcCO2>45 mmHg were counted. Patient–ventilator asynchrony events were analyzed. The AHI was >5 hour−1 in two patients. Another patient experienced unexplained 3% drops in arterial oxygen saturations at a frequency of 70 hour−1. Patient–ventilator disconnections ≥3 minutes occurred in seven of eight patients and were consistently associated with decreases in SpO2 and ≥5-mmHg increases in PtcCO2; PtcCO2 rose above 45 mmHg in two patients during these disconnections. The most common type of patient–ventilator asynchrony was ineffective effort. This study confirms that MPV can be effective as long as the patient remains connected to the mouthpiece. However, transient arterial oxygen desaturation and hypercapnia due to disconnection from the ventilator may occur, without inducing unpleasant sensations in the patients. Therefore, an external warning system based on a minimal acceptable value of minute ventilation would probably be useful. [ABSTRACT FROM AUTHOR]

BACKGROUND: The battery life (BL) of portable home ventilator batteries is reported by manufacturers. The aim of this study was to evaluate the effects of ventilator mode, breathing frequency, PEEP, and leaks on the BL of 5 commercially available portable ventilators. METHODS: The effects of the ventilator mode (volume controlled-continuous mandatory ventilation [VC-CMV] vs pressure support ventilation [PSV]), PEEP 5 cm H2O , breathing frequency (10,15, and 20 breaths/ min), and leaks during both volume-targeted ventilation and PSV on the BL of 5 ventilators (Elisée 150, Monnal T50, PB560, Vivo 50, and Trilogy 100) were evaluated. Each ventilator was ventilated with a test lung at a tidal volume of 700 ml and an inspiratory time of 1.2 s in the absence of leaks. RESULTS: Switching from PSV to VC-CMV or the addition of PEEP did not significantly change ventilator BL. The increase in breathing frequency from 10 to 20 breaths/min decreased the BL by 18 ± 11% (P = .005). Leaks were associated with an increase in BL during the VC-CMV mode (18 ± 20%, P = .04) but a decrease in BL during the PSV mode (-1 3 ± 15%, P = .04). CONCLUSIONS: The BL of home ventilators depends on the ventilator settings. BL is not affected by the ventilator mode (VC-CMV or PSV) or the addition of PEEP. BL decreases with an increase in breathing frequency and during leaks with a PSV mode, whereas leaks increase the duration of ventilator BL during VC-CMV. [ABSTRACT FROM AUTHOR]

Aims: To estimate the effect of prophylactic angiotensin-converting enzyme inhibitors (ACEi) on survival in Duchenne muscular dystrophy (DMD)., Methods and Results: We analysed the data from the French multicentre DMD Heart Registry (ClinicalTrials.gov: NCT03443115). We estimated the association between the prophylactic prescription of ACEi and event-free survival in 668 patients aged 8 to 13 years, with normal left ventricular function, using (i) a Cox model with intervention as a time-dependent covariate, (ii) a propensity-based analysis comparing ACEi treatment vs. no treatment, and (iii) a set of sensitivity analyses. The study outcomes were overall survival and hospitalizations for heart failure (HF) or acute respiratory failure. Among the 668 patients included in the DMD Heart Registry, 576 (mean age 6.1 ± 2.8 years) were eligible for this study, of whom 390 were treated with ACEi prophylactically. Death occurred in 53 patients (13.5%) who were and 60 patients (32.3%) who were not treated prophylactically with ACEi, respectively. In a Cox model with intervention as a time-dependent variable, the hazard ratio (HR) associated with ACEi treatment was 0.49 [95% confidence interval (CI) 0.34-0.72] and 0.47 (95% CI 0.31-0.17) for overall mortality after adjustment for baseline variables. In the propensity-based analysis, 278 patients were included in the treatment group and 834 in the control group, with 18.5% and 30.4% 12-year estimated probability of death, respectively. ACEi were associated with a lower risk of death (HR 0.39; 95% CI 0.17-0.92) and hospitalization for HF (HR 0.16; 95% CI 0.04-0.62). All other sensitivity analyses yielded similar results., Conclusion: Prophylactic ACEi treatment in DMD was associated with a significantly higher overall survival and lower rates of hospitalization for HF., (Published on behalf of the European Society of Cardiology. All rights reserved. © The Author(s) 2021. For permissions, please email: journals.permissions@oup.com.)

Background: Breath-stacking, which consists of taking 2 or more consecutive ventilator insufflations without exhaling, is a noninvasive and inexpensive cough-assistance technique for patients with neuromuscular disease. Volumetric cough mode (VCM) is a recently introduced ventilator mode consisting of a programmable intermittent deep breath equal to a set percentage of the baseline tidal volume. Here, our objective was to compare VCM to breath-stacking during volume-control continuous mandatory ventilation in subjects on long-term noninvasive mechanical ventilation at home., Methods: We included 20 subjects with neuromuscular disease causing severe respiratory muscle dysfunction with a cough peak flow (CPF) < 270 L/min or maximum expiratory pressure < 45 cm H 2 O. Each subject tested breath-stacking and VCM in random order., Results: CPF increased with both techniques but was higher with VCM than with breath-stacking in 16 subjects. In 17 subjects, CPF was highest with the technique that produced the greatest inspiratory capacity., Conclusion: Our results indicate that both breath-stacking and VCM are useful cough-augmentation techniques. Displaying insufflated volumes on the ventilator screen is a simple and accessible method for selecting the most efficient cough-augmentation technique delivered by a home ventilator., (Copyright © 2019 by Daedalus Enterprises.)

Ineffective efforts (IEs) are among the most common types of patient-ventilator asynchrony. The objective of this study is to validate IE detection during expiration using pressure and flow signals, with respiratory effort detection by esophageal pressure (Pes) measurement as the reference, in patients with neuromuscular diseases (NMDs). We included 10 patients diagnosed with chronic respiratory failure related to NMD. Twenty-eight 5-minute recordings of daytime ventilation were studied for IE detection. Standard formulas were used to calculate sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of IE detection using pressure and flow signals compared to Pes measurement. Mean sensitivity and specificity of flow and pressure signal-based IE detection versus Pes measurement were 97.5% ± 5.3% and 91.4% ± 13.7%, respectively. NPV was 98.1% ± 8.2% and PPV was 67.6% ± 33.8%. Spearman's rank correlation coefficient indicated a moderately significant correlation between frequencies of IEs and controlled cycles ( ρ = 0.50 and p = 0.01). Among respiratory cycles, 311 (11.2%) were false-positive IEs overall. Separating false-positive IEs according to their mechanisms, we observed premature cycling in 1.2% of cycles, delayed ventilator triggering in 0.1%, cardiac contraction in 9.2%, and upper airway instability during expiration in 0.3%. Using flow and pressure signals to detect IEs is a simple and rapid method that produces adequate data to support clinical decisions.

Background: To maximize the likelihood of successful long-term mechanical ventilation (MV) in patients with neuromuscular diseases, ventilator characteristics and settings must be chosen carefully, taking into account both medical requisites and the patient's preference and comfort., Objectives: To evaluate patients' knowledge about and comfort with their long-term MV; to compare patients' and prescribers' opinions and expectations regarding long-term MV; and to compare the equipment used by the patients to the prescribers' current MV prescription., Methods: Neuromuscular patients receiving long-term MV, and home MV prescribers in Belgium and France were asked to respond to a questionnaire survey specifically developed for the study., Results: Completed questionnaires were collected from 209 patients (mean age 35.4 ± 15.9 y, range 3-86 y), ventilated since 11 ± 17 year, and 45 MV prescribers. One hundred sixty-three (78%) patients correctly designated their MV mode as a volume or pressure controlled mode. When an inspiratory trigger was available, 92% of the patients were able to use it, but only 69% were satisfied. Prescribers were more prone than patients to use new technologies such as an emergency-release system for the noninvasive interface (1-10 visual analog scale score 9.2 ± 1.5 vs 6.8 ± 3.3, P < .001), a humidification system (8.6 ± 1.4 vs 7.8 ± 2.6, P = .02), a contactor for providing larger inspiratory volumes (8.4 ± 1.7 vs 6.0 ± 3.0, P = .009), a built-in cough assistance mode (9.2 ± 1.4 vs 5.5 ± 3.5, P < .001), new options to improve speech, or new MV modes such as a volume-targeted pressure control., Conclusions: The opinions of patients and prescribers differed about the ideal home ventilator. Patients were less prone to use new technologies, mainly because of a lack of information, underlining the need for regular MV update in patients receiving long-term MV.

Objective: To determine whether optoelectronic plethysmography accurately evaluated vital capacity (VC) in patients with respiratory muscle dysfunction of variable severity, including those with paradoxical abdominal movements., Methods: In 20 subjects, VC was measured in the supine position using both spirometry and optoelectronic plethysmography (6 optoelectronic cameras and 52 reflective markers on the anterior chest wall)., Results: Spirometry VC (VC-Spiro) correlated positively with optoelectronic VC (VC-Opto) (r(2) = 0.99, P < .001), and the regression line was very close to the identity line (VC-Opto [mL] = -1.202 + 1.007 × VC-Spiro [mL]). A Bland-Altman plot showed that the mean difference was -20 mL (95% CI -63 mL to 24 mL) and the limits of agreement were 163 mL (95% CI 106 mL to 231 mL) and -203 mL (95% CI -271 mL to -146 mL). The difference between the 2 values expressed as the percentage of the mean value was < 15% in all 20 subjects, < 10% in 17 (85%) subjects, and < 5% in 11 (55%) subjects. The difference, expressed as the percentage of the mean value, was unrelated to the contribution of abdominal motion to VC (r = 0.02 and P = .94), but was significantly related to body mass index (r = 0.53, P = .02)., Conclusions: Optoelectronic plethysmography is accurate and suitable for VC measurement in patients with various degrees of respiratory failure, including those with paradoxical abdominal movements. This noninvasive method may be an attractive alternative for accurately measuring VC in the event of air leakage (through the mouth or tracheostomy) or when patients are unable to breathe with the dead space added by the spirometer.