Dysphagia in Duchenne muscular dystrophy: practical recommendations to guide management.

Purpose: Duchenne muscular dystrophy (DMD) is a rapidly progressive neuromuscular disorder causing weakness of the skeletal, respiratory, cardiac and oropharyngeal muscles with up to one third of young men reporting difficulty swallowing (dysphagia). Recent studies on dysphagia in DMD clarify the pathophysiology of swallowing disorders and offer new tools for its assessment but little guidance is available for its management. This paper aims to provide a step-by-step algorithm to facilitate clinical decisions regarding dysphagia management in this patient population.

Intrapulmonary effects of setting parameters in portable intrapulmonary percussive ventilation devices.

Background: Despite potential benefits of intrapulmonary percussive ventilation (IPV) in various respiratory diseases, the impact of setting parameters on the mechanical effects produced by IPV in the lungs is unknown. We hypothesized that changing the parameters on IPV would modulate these effects. This in vitro study aimed at comparing the changes in intrapulmonary effects resulting from changes in parameters in 3 portable IPV devices (IMP2, Impulsator, and Pegaso).

Limits of effective cough-augmentation techniques in patients with neuromuscular disease.

Background: Manual and mechanical cough-augmentation techniques can improve peak cough flow (PCF) in patients with respiratory insufficiency caused by neuromuscular disease.

Methods: We studied cough-augmentation techniques in 179 clinically stable patients with various neuromuscular diseases. We measured vital capacity (VC), maximum expiratory pressure (MEP), and PCF, with and without 3 cough-augmentation techniques: manually assisted cough (MAC); breath-stacking (in a subgroup of 60 patients receiving noninvasive mechanical ventilation); and breath-stacking in combination with MAC (also in the 60-patient subgroup).

A comparison of invasive versus noninvasive full-time mechanical ventilation in Duchenne muscular dystrophy.

The aim of this study was to compare morbidity and causes of death in a series of 42 Duchenne patients receiving full-time mechanical ventilation either by tracheostomy (TR, n = 16 or by noninvasive methods (noninvasive ventilation [NIV], n = 26). At inclusion for a 5-year observation period (2002-2006), TR and NIV patients were 32.7 and 27 years old, respectively.

Effect of non-invasive ventilation on respiratory muscle loading and endurance in patients with Duchenne muscular dystrophy.

Background: Respiratory muscle weakness in patients with Duchenne muscular dystrophy (DMD) leads to respiratory failure for which non-invasive positive pressure ventilation (NIPPV) is an effective treatment. This is used initially at night (n-NIPPV) but, as the disease progresses, diurnal use (d-NIPPV) is often necessary. The connection between NIPPV and relief of respiratory muscle fatigue remains unclear.

Mechanical ventilation in Duchenne patients with chronic respiratory insufficiency: clinical implications of 20 years published experience.

Chronic respiratory insufficiency is inevitable in the course of disease progression in patients with Duchenne muscular dystrophy (DMD). Without mechanical ventilation (MV), morbidity and mortality are highly likely towards the end of the second decade of life. The present review reports evidence and clinical implications regarding DMD patients treated with MV.

Lung function accurately predicts hypercapnia in patients with Duchenne muscular dystrophy.

Background: In patients with Duchenne muscular dystrophy (DMD), implementation of mechanical ventilation depends on sleep investigation and measurement of CO2 tension. The objective of this cross-sectional study was to determine which noninvasive lung function parameter best predicts nocturnal hypercapnia and diurnal hypercapnia in these patients.

Methods: According to transcutaneous CO2 (TcCO2) measurement, 114 DMD patients were classified into three groups: nocturnal hypercapnia (n = 38) [group N], diurnal hypercapnia (n = 39), despite nocturnal ventilation (group D), and 24-h normocapnia and spontaneous breathing (n = 37) [group S] as control.

Diurnal ventilation via mouthpiece: survival in end-stage Duchenne patients.

The present study aimed to assess the impact of diurnal mouthpiece intermittent positive pressure ventilation (MIPPV) as the extension of the nasal intermittent positive pressure ventilation (NIPPV) in Duchenne muscular dystrophy (DMD). In total, 42 DMD patients aged 15-33 yrs, normocapnic at night with NIPPV and receiving MIPPV since end-diurnal hypercapnia, were studied. Transcutaneous CO2 tension (Pt,CO2) was prospectively monitored at the end of the day, before and after MIPPV initiation.

Is disinfection of mechanical ventilation tubing needed at home?

Introduction: Home mechanical ventilation is used to treat chronic alveolar hypoventilation. Maintenance protocols for home ventilation circuits (HVC) remain empirical and unproven. We have investigated (1) the cleanliness and sterility of the HVC used by home ventilated patients and (2) the efficiency of tubing cleaning and decontamination protocols recommended to them and used for 12 months or more.

Effect of intrapulmonary percussive ventilation on mucus clearance in duchenne muscular dystrophy patients: a preliminary report.

Objective: To determine the effects of intrapulmonary percussive ventilation (IPV) on mucus clearance in tracheostomized Duchenne muscular dystrophy patients.

Methods: We studied 8 patients, 5 of whom had mucus hypersecretion (> 30 mL/d). In a randomized, cross-over study we compared assisted mucus clearance techniques with and without IPV.

Preoperative cardiopulmonary assessment in the child with neuromuscular scoliosis.

Preoperative cardiopulmonary assessment in the child with neuromuscular scoliosis comprises two successive steps. The first is the exclusion of any preoperative factor which could make the surgery too dangerous or unacceptable, unless corrected (e.g.

Tracheal versus noninvasive mechanical ventilation in neuromuscular patients: experience and evaluation.

From the experience of following 86 long-term ventilated neuromuscular patients, some aspects of the mode of ventilation are discussed: tolerance and problems, switching from one ventilation technique to another. As a general rule, the noninvasive methods are to be preferred. Tracheostomy may continue to be indicated in the event of an insufficient cultural level, recurrent aspirations, or low pulmonary compliance.

Lung volume restriction in patients with chronic respiratory muscle weakness: the role of microatelectasis.

Background: It is well established that patients with longstanding weakness of the respiratory muscles have a reduction in lung distensibility. Although this occurs in most patients without any radiographic changes suggesting parenchymal lung disease, it has been attributed to the development of microatelectasis.

Methods: A high resolution computed tomographic (CT) scanner was used in eight patients with traumatic tetraplegia and six patients with generalised neuromuscular disorders to look for areas of atelectasis.

[Surgical treatment of spinal deformities in Duchenne muscular dystrophy].

Forty seven Duchenne Muscular Dystrophy patients, operated on for spinal deformity with segmental spinal instrumentation according to Luque's technique, are reviewed with a mean post-operative follow up of 4 years 4 months. The study of the results obviously showed the interest of Luque Galveston technique for the treatment of severe curves with pelvic obliquity, whereas Dove's rectangle is an interesting choice for the early instrumentation. A total spinal arthrodesis can probably be avoided in these patients, which often demonstrate a satisfying spontaneous fusion after instrumentation.

Precocity of pulmonary vascular obstruction of Down's syndrome.

Studying the pulmonary vascular resistance in children with ventricular septal and endocardial cushion defects, the authors found a statistically significant earlier and more severe reaction in children with Down's syndrome as compared to normals. Cardiac investigations with regard to surgical intervention should be made early in life, if the parents wish their child with Down's syndrome to undergo surgery.