Respiratory management of children with spinal muscular atrophy (SMA).

Spinal muscular atrophy (SMA) causes a predominantly bilateral proximal muscle weakness and atrophy. The respiratory muscles are also involved with a weakness of the intercostal muscles and a relatively spared diaphragm. This respiratory muscle weakness translates into a cough impairment, resulting in poor clearance of airway secretions and recurrent pulmonary infections, restrictive lung disease due to a poor or insufficient chest wall and lung growth, nocturnal hypoventilation and, finally, respiratory failure. Systematic and regular monitoring of respiratory muscle performance is necessary in children with SMA in order to anticipate respiratory complications, such as acute and chronic respiratory failure, and guide clinical care. This monitoring is based in clinical practice on volitional and noninvasive tests, such as vital capacity, sniff nasal inspiratory pressure, maximal static pressures, peak expiratory flow and peak cough flow because of their simplicity, availability and ease. In young children, those with poor cooperation or severe respiratory muscle weakness, other, mostly invasive, tests may be required to evaluate respiratory muscle performance. A sleep study, or at least overnight monitoring of nocturnal gas exchange is mandatory for detecting nocturnal alveolar hypoventilation. Training for patients and caregivers in cough-assisted techniques is recommended when respiratory muscle strength falls below 50% of predicted or in case of recurrent or severe respiratory infections. Noninvasive ventilation (NIV) should be initiated in case of isolated nocturnal hypoventilation and followed by a pediatric respiratory team with expertise in NIV. Multidisciplinary (neurology and respiratory) pediatric management is crucial for optimal care of children with SMA. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

Long term continuous positive airway pressure (CPAP) and noninvasive ventilation (NIV) in children: Initiation criteria in real life.

INTRODUCTION: Long term noninvasive continuous positive airway pressure (CPAP) and noninvasive ventilation (NIV) are increasingly used in children but limited information is available on the criteria and conditions leading to the initiation of these treatments. The aim of the study is to describe the objective overnight respiratory parameters and clinical situations that led to the initiation of CPAP/NIV in a pediatric NIV unit. MATERIAL AND METHODS: Retrospective analysis of the data of all the children discharged on home CPAP/NIV over a 1 year period. RESULTS: Seventy-six patients were started on CPAP (n = 64) or NIV (n = 12). CPAP/NIV was initiated because of CPAP/NIV weaning failure (Acute group) in 15 patients. None of these patients had an overnight gas exchange or sleep study before CPAP/NIV initiation. In 18 patients, CPAP/NIV was initiated on abnormal nocturnal gas exchange alone (Subacute group). These patients had a median of three of the following five overnight gas exchange abnormalities: minimal pulse oximetry (SpO2 ) <90%, maximal transcutaneous carbon dioxide (PtcCO2 ) >50 mmHg, time spent with SpO2 <90% or PtcCO2 >50 mmHg ≥2% of recording time, oxygen desaturation index >1.4/hr. In the last 43 patients, CPAP/NIV was initiated after an abnormal sleep study (Chronic group) on a mean of four of the aforementioned criteria and an apnea-hypopnea index >10/hr. CONCLUSION: In clinical practice, CPAP/NIV was initiated in an acute, subacute and chronic setting with most patients having an association of several abnormal gas exchange or sleep study parameters. Future studies should evaluate the effectiveness and benefits of CPAP/NIV according to the clinical situation and initiation criteria. Pediatr Pulmonol. 2016; 51:968-974. © 2016 Wiley Periodicals, Inc.

Diaphragmatic dysfunction in Collagen VI myopathies.

Collagen VI-related myopathies are hereditary disorders causing progressive restrictive respiratory insufficiency. Specific diaphragm involvement has been suggested by a drop in supine volumes. This pilot study aimed at characterizing the respiratory muscle phenotype in patients with COL6A1-3 genes mutations. Lung function, blood gases, muscle strength and respiratory mechanics were measured in 7 patients between 2002 and 2012. Patients were classified as Early-Severe (n = 3), Moderate-Progressive (n = 2) and Mild (n = 2) according to clinical disease presentation. Seven patients (aged 6-28) were evaluated. Forced vital capacity distinguished the Mild group (>60% predicted) from the two other groups (<50% predicted). This distinction was also possible using the motor function measure scale. Diaphragmatic dysfunction at rest was observed in all the Early-Severe and Moderate-Progressive patients. During a voluntary sniff maneuver diaphragmatic dysfunction was observed in all patients, as assessed by a negative gastric pressure. All patients had diaphragmatic fatigue assessed by a tension-time index over the threshold of 0.15. Diaphragmatic dysfunction during a maximal voluntary maneuver and diaphragmatic fatigue are constant features in Collagen VI myopathies. These observations can assist the diagnosis and should be taken in account for the clinical management, with the early detection of sleep-disordered breathing.

Work of breathing as a tool to diagnose severe fixed upper airway obstruction.

A 4-year-old girl with bilateral vocal fold palsy was successfully decannulated from tracheotomy after seven laryngeal procedures. But an important stridor and dyspnea recurred 13 months after decannulation. Nocturnal gas exchange was normal but her daytime work of breathing was increased by fourfold, without any beneficial effect of nasal noninvasive continuous positive airway pressure ventilation (CPAP), reflecting a severe fixed airway obstruction. Endoscopic examination confirmed the work of breathing findings showing glottic and supraglottic stenosis. This upper airway obstruction was successfully treated with a recannulation. In conclusion, the major message of this case report is that measurement of the work of breathing was able to document the "fixed" nature of the airway obstruction, by showing no improvement even with highest tolerated levels of nasal CPAP. As such, the work of breathing may be proposed as a screening tool to quantify and assess the reversibility of severe upper airway obstruction in children.

Identification of a non-linear model as a new method to detect expiratory airflow limitation in mechanically ventilated patients.

Expiratory flow limitation (EFL) can occur in mechanically ventilated patients with chronic obstructive pulmonary disease and other disorders. It leads to dynamic hyperinflation with ensuing deleterious consequences. Detecting EFL is thus clinically relevant. Easily applicable methods however lack this detection being routinely made in intensive care. Using a simple mathematical model, we propose a new method to detect EFL that does not require any intervention or modification of the ongoing therapeutic. The model consists in a monoalveolar representation of the respiratory system, including a collapsible airway that is submitted to periodic changes in pressure at the airway opening: EFL provokes a sharp expiratory increase in the resistance Rc of the collapsible airway. The model parameters were identified via the Levenberg-Marquardt method by fitting simulated data on the airway pressure and the flow signals recorded in 10 mechanically ventilated patients. A sensitivity study demonstrated that only 8/11 parameters needed to be identified, the remaining three being given reasonable physiological values. Flow-volume curves built at different levels of positive expiratory pressure, PEEP, during "PEEP trials" (stepwise increases in positive end-expiratory pressure to optimize ventilator settings) have shown evidence of EFL in three cases. This was concordant with parameter identification (high Rc during expiration for EFL patients). We conclude from these preliminary results that our model is a potential tool for the non-invasive detection of EFL in mechanically ventilated patients.

Positive end expiratory pressure and expiratory flow limitation: a model study.

Patients suffering from chronic obstructive pulmonary diseases, frequently exhibit expiratory airflow limitation. We propose a mathematical model describing the mechanical behavior of the ventilated respiratory system. This model has to simulate applied positive end-expiratory pressure (PEEP) effects during expiration, a process used by clinicians to improve airflow. The proposed model consists of a nonlinear two-compartment system. One of the compartments represents the collapsible airways and mimics its dynamic compression, the other represents the lung and chest wall compartment. For all clinical conditions tested (n=16), the mathematical model simulates the removal of expiratory airflow limitation at PEEP lower than 70-80% of intrinsic end-expiratory pressure (PEEPi), i.e. the end-expiratory alveolar pressure (PAet) without PEEP. It also shows the presence of an optimal PEEP. The optimal PEEP contributes to decrease PAet from 7.4+/-0.9 (SD) to 5.4+/-0.9 hPa (p < 0.0001; mild flow limitation) and from 11.8+/-1.1 to 7.8+/-0.7 hPa (p < 0.0001; severe flow limitation). Resistance of the collapsible compartment is decreased from 53+/-7 to 8.2+/-5.9 hPa.L(-1).s (p < 0.0001; mild flow limitation) and from 80+/-11 to 6.9+/-5.4 hPa.L(-1).s (p < 0.0001; severe flow limitation). This simplistic mathematical model gives a plausible explanation of the expiratory airflow limitation removal with PEEP and a rationale to the practice of PEEP application to airflow limited patients.