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.

[Recommendations for pediatric oxygen therapy in acute and chronic settings: Needs assessment, implementation criteria, prescription practices and follow-up]. / Recommandations pour l'oxygénothérapie chez l'enfant en situations aiguës et chroniques : évaluation du besoin, critères de mise en route, modalités de prescriptions et de surveillance.

Recommendations for acute and long-term oxygen therapy (needs assessment, implementation criteria, prescription practices, and follow-up) in children were produced by the Groupe de Recherche sur les Avancées en Pneumo-Pédiatrie (GRAPP) under the auspices of the French Paediatric Pulmonology and Allergology Society (SP2A). The Haute Autorité de Santé (HAS) methodology, based on the Formalized Consensus, was used. A first panel of experts analyzed the English and French literature to provide a second panel of experts with recommendations to validate. Only the recommendations are presented here, but the full text (arguments+recommendations) is available at the website of the French Paediatric Society: www.sfpediatrie.com.

Evaluation of colistin susceptibility in multidrug-resistant clinical isolates from cystic fibrosis, France.

The emergence of multidrug-resistant (MDR) bacteria in cystic fibrosis (CF) patients has led to the use of colistin drug and the emergence of colistin-resistant Gram-negative bacteria. The aim of this study was to compare the disk diffusion and Etest methods for colistin susceptibility testing on MDR bacteria associated with CF from Marseille, France. Forty-nine MDR clinical isolates (27 Stenotrophomonas maltophilia, 22 Achromobacter xylosoxidans) were used in this study. Disk diffusion and Etest assays were used to assess the reliability of these two techniques. For S. maltophilia, 25 out of 27 isolates had low minimum inhibitory concentrations (MICs, 0.125-0.75 mg/L), whereas two isolates displayed high MICs (32 mg/L). Similarly, 19 out of 22 A. xylosoxidans isolates had low MICs (0.75-3.0 mg/L), whereas three isolates had high MICs (32-256 mg/L). The diameters of zone inhibition with a 50-µg colistin disk displayed a good correlation with the MICs obtained by the Etest. Susceptible and resistant strains were eventually separated using a disk diffusion assay at a cut-off of ≤ 12 mm for a 50-µg disk. Colistin displayed excellent activity against S. maltophilia and A. xylosoxidans and the disk diffusion assay could be confidently used to determine the susceptibility to colistin for MDR Gram-negative bacteria in the context of CF.

[Recommendations for pediatric oxygen therapy in acute and chronic settings: needs assessment, implementation criteria, prescription practices and follow-up]. / Recommandations pour l'oxygénothérapie chez l'enfant en situations aiguës et chroniques : évaluation du besoin, critères de mise en route, modalités de prescription et de surveillance.

Recommendations for acute and long-term oxygen therapy (needs assessment, implementation criteria, prescription practices, and follow-up) in children were produced by the Groupe de Recherche sur les Avancées en Pneumo-Pédiatrie (GRAPP) under the auspices of the French Paediatric Pulmonology and Allergology Society (SP2A). The Haute Autorité de Santé (HAS) methodology, based on the Formalized Consensus, was used. A first panel of experts analyzed the English and French literature to provide a second panel of experts with recommendations to validate. Only the recommendations are presented here, but the full text (arguments+recommendations) is available at the website of the French Paediatric Society: www.sfpediatrie.com.

Non-classic cystic fibrosis associated with D1152H CFTR mutation.

BACKGROUND: Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (CFTR) mutation. METHODS: Subjects with a D1152H allele in trans with another CFTR mutation were identified using the French Cystic Fibrosis Registry. Phenotypic characteristics were compared with those of pancreatic insufficient (PI) and pancreatic sufficient (PS) cystic fibrosis (CF) subjects in the Registry (CF cohort). RESULTS: Forty-two subjects with D1152H alleles were identified. Features leading to diagnosis included chronic sinopulmonary disease (n = 25), congenital absence of the vas deferens (n = 11), systematic neonatal screening (n = 4), and genetic counseling (n = 2). Median age at diagnosis was 33 [interquartile range (IQR, 24-41)] years in D1152H subjects. Median sweat chloride concentrations were 43.5 (39-63) mmol/l in D1152H subjects and were markedly lower than in PI and PS CF subjects (p < 0.05). Bronchiectasis was present in 67% of D1152H subjects, but Pseudomonas aeruginosa colonization and pancreatic insufficiency were present in <30% of subjects. Estimated rates of decline in forced expiratory volume in 1 s (FEV(1)) were lower in D1152H subjects vs PI CF subjects (p < 0.05). None of the D1152H subjects identified since 1999 had died or required lung transplantation. CONCLUSIONS: When present in trans with a CF-causing mutation, D1152H causes significant pulmonary disease, but all subjects had prolonged survival.

[Value of continuous glucose monitoring in screening for diabetes in cystic fibrosis]. / Holter glycémique et dépistage du diabète chez l'enfant atteint de mucoviscidose.

AIMS: In the past few years, survival has increased for people with cystic fibrosis (CF). Diabetes is an important complication of CF caused by pancreatic insufficiency, which reduces insulin secretion. Because of increased longevity of patients with CF, the prevalence of CF-related diabetes (CFRD) has increased. CFRD is associated with increased mortality and morbidity. Several studies have reported a decline in nutritional and pulmonary status 2-4 years before the diagnosis of CFRD. The introduction of insulin treatment can produce clinical improvement in weight and lung function. The oral glucose tolerance test is currently the reference method in screening for CFRD, but the current definition of diabetes based on the 2-h post-load plasma glucose level may not be the most accurate method for early detection of glucose tolerance abnormalities in CF. The continuous glucose monitoring system (CGMS) has been described as a useful tool for early detection of hyperglycemia in the CF patient. We tested the CGMS in CF patients with unexplained alteration of their general status. The aim of this study was to assess the value of the CGMS in this population. METHODS: An annual OGTT (following World Health Organization recommendations) was conducted as a screening test to identify CFRD in patients aged over 10 years or patients aged under 10 years with a poorer clinical status. The CGMS was performed in patients with unexplained worsened clinical status and without diabetes in OGTT. RESULTS: Forty-two patients aged from 8.5 to 19 years were screened using OGTT for CFRD. According to ADA criteria, 23 patients (54.8%) displayed normal glucose tolerance, 14 (33.3%) impaired glucose tolerance, and 5 diabetes (11.9%). Out of 37 nondiabetic, the CGMS was used in 20 patients with unexplained altered general status. The CGMS revealed peaks of glucose values greater than 2 g/L in 16 patients, 9 patients with normal glucose tolerance, and 7 patients with impaired glucose tolerance. The mean CGMS glucose and time of glycemic monitoring above 1.4 g/L increased in patients with peaks greater than 2 g/L compared to patients without peaks (p=0.0016 and p=0.0069 respectively). After analysis of the CGMS, the prevalence of diabetes increased from 11.9 to 50%. Three patients aged less than 10 years with a normal OGTT profile presented glycemic peaks greater than 2 g/L during CGMS. CONCLUSION: CGMS revealed more glucose metabolism abnormalities than OGTT in patients with unexplained altered general status.

Microbial diversity in the sputum of a cystic fibrosis patient studied with 16S rDNA pyrosequencing.

Recent studies using 16S rRNA gene amplification followed by clonal Sanger sequencing in cystic fibrosis demonstrated that cultured microorganisms are only part of the infecting flora. The purpose of this paper was to compare pyrosequencing and clonal Sanger sequencing on sputum. The sputum of a patient with cystic fibrosis was analysed by culture, Sanger clone sequencing and pyrosequencing after 16S rRNA gene amplification. A total of 4,499 sequencing reads were obtained, which could be attributed to six consensus sequences, but the length of reads leads to fastidious data analysis. Compared to clonal Sanger sequencing and to cultivation results, pyrosequencing recovers greater species richness and gives a more reliable estimate of the relative abundance of bacterial species. The 16S pyrosequencing approach expands our knowledge of the microbial diversity of cystic fibrosis sputum. The current lack of phylogenetic resolution at the species level for the GS 20 sequencing reads will be overcome with the next generation of pyrosequencing apparatus.

[Acute asthmatic crisis in children]. / La crise d'asthme aigu grave de l'enfant.

Acute asthma attack in children is an attack responsible for life-threatening acute respiratory distress with partial or no response to bronchodilator drugs. The severity of the episode needs to be quickly evaluated. This presupposes a perfect knowledge of the clinical signs of severity. Treatment is urgent and first based on the administration of high doses of inhaled short-acting beta 2-agonists. In the more obstructed children, anti-cholinergic drugs can be added to nebulized beta 2-agonists. Because of their delayed effect, systemic steroids require an early prescription. Symptomatic treatments are: urgent hospitalization, oxygen if needed, proper hydratation. Continuous nebulization or intravenous perfusion of beta 2-agonists are prescribed with cardiac monitoring when no objective improvement is noted. Admission into the pediatric intensive care unit when bronchial obstruction continues will permit the association of bronchodilator drugs and the proposal of mechanical ventilation if needed. When the episode is resolved, a prophylactic treatment using inhaled corticosteroids must be prescribed. Clinical and spirometric follow-up has to be organized, and the patient and his/her family have to be educated.

[Influence of the inhaler device on bronchodilatation in the asthmatic child]. / Influence de la chambre d'inhalation sur la bronchodilatation chez l'enfant asthmatique.

The use of spacer devices is recommended in asthmatic children for inhaled therapeutics. Therefore, in vitro studies prove the dependent-device delivery of the drug. The aim of this study was to compare, in vivo, the effect of 200 micrograms of albuterol, delivered via one of the five spacer devices currently marketed in France (Aerochamber, Aeroscopic, Babyhaler with a face mask, Nebuhaler or Volumatic) and assessed by the induced peak expiratory flow (PEF) change. One hundred asthmatic children were recruited and randomized in 5 groups. The mean age was 8.9 +/- 3.3 years. Each group was comparable regardless of gender, height, weight, characteristics of asthma and baseline PEF. The maximal change in PEF was obtained with Babyhaler (14.9 +/- 12.8%; p = 0.009). The increase in PEF elicited with Aeroscopic was 9.7 +/- 10.2%. The others spacer devices did not offer a change greater than the variation of PEF in the studied population. Further studies, concerned with a measurement of drug deposition or with an assessment of its use in obstructive episodes of asthma, are required, but Babyhaler with a face mask, usually reserved to infants, deserves to be advised to older children for salbutamol intake.