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Background and purpose: To describe a large series of patients with α, β, and γ sarcoglycanopathies (LGMD‐R3, R4, and R5) and study phenotypic correlations and disease progression. Methods: A multicentric retrospective study in four centers in the Paris area collecting neuromuscular, respiratory, cardiac, histologic, and genetic data. The primary outcome of progression was age of loss of ambulation (LoA); disease severity was established according to LoA before or after 18 years of age. Time‐to‐event analysis was performed. Results: One hundred patients (54 γ‐SG; 41 α‐SG; 5 β‐SG) from 80 families were included. The γ‐SG patients had earlier disease onset than α‐SG patients (5.5 vs. 8 years; p = 0.022) and β‐SG patients (24.4 years). Axial muscle weakness and joint contractures were frequent and exercise intolerance was observed. At mean follow‐up of 22.9 years, 65.3% of patients were wheelchair‐bound (66.7% α‐SG, 67.3% γ‐SG, 40% β‐SG). Dilated cardiomyopathy occurred in all sarcoglycanopathy subtypes, especially in γ‐SG patients (p = 0.01). Thirty patients were ventilated and six died. Absent sarcoglycan protein expression on muscle biopsy and younger age at onset were associated with earlier time to LoA (p = 0.021 and p = 0.002). Age at onset was an independent predictor of both severity and time to LoA (p = 0.0004 and p = 0.009). The α‐SG patients showed genetic heterogeneity, whereas >90% of γ‐SG patients carried the homozygous c.525delT frameshift variant. Five new mutations were identified. Conclusions: This large multicentric series delineates the clinical spectrum of patients with sarcoglycanopathies. Age at disease onset is an independent predictor of severity of disease and LoA, and should be taken into account in future clinical trials. [ABSTRACT FROM AUTHOR]

Le terme « trouble respiratoire obstructif du sommeil » (TROS) regroupe l'ensemble des manifestations secondaires à la réduction du calibre des voies aériennes supérieures pendant le sommeil. C'est un symptôme fréquent en pédiatrie avec une prévalence qui varie entre 3 et 8 % chez l'enfant en l'absence de comorbidité. Le diagnostic de TROS est avant tout clinique et peut être fait lors d'une consultation de pédiatrie. Une consultation ORL spécialisée avec réalisation d'une naso-fibroscopie pour quantifier le volume des tissus adéno-amygdaliens est indispensable pour orienter la prise en charge. L'examen du sommeil n'est pas nécessaire pour confirmer le diagnostic, chez l'enfant entre 2 et 8 ans en l'absence de comorbidité associée. La prise en charge thérapeutique repose avant tout sur l'adéno-amygdalectomie et selon les cas, un traitement médicamenteux par corticoïdes nasal, un traitement orthodontique par disjonction maxillaire rapide ou une rééducation oro-maxillo-faciale. L'appareillage par pression positive continue (PPC) est réservé à un TROS sévère associé à une obésité, une malformation craniofaciale ou une autre pathologie à risque de TROS en cas d'échec de toutes les autres thérapeutiques. Un suivi rapproché au sein d'un réseau de soins est nécessaire (pédiatre, médecin du sommeil, ORL, orthodontiste, orthophoniste) afin de surveiller l'efficacité du traitement, de dépister et traiter les récidives. Sleep-disorder breathing (SDB) is common in children and results from a reduction of the airway caliber during sleep. The estimated prevalence ranges from 3 and 8 % in healthy children. The diagnosis is based on clinical symptoms and confirmed by an upper airway evaluation with a nasopharyngoscopy to assess the size of tonsils and adenoids. There is no need for a sleep study in healthy children between the age of 2 and 8 years. Adenotonsillectomy (ATE) is the first line treatment, associated in selected patients with anti-inflammatory nasal drugs, orthodontic treatment and oropharyngeal exercises. Continuous positive airway pressure (CPAP) is a treatment option for severe SDB despite ATE and all other therapeutics and is mainly indicated in patients with morbid obesity, genetic disorder and/or craniofacial anomalies. A close follow up is recommended in a specialized pediatric healthcare network to detect and treat SDB relapse. [ABSTRACT FROM AUTHOR]

Obstructive sleep apnea (OSA) in adolescents is characterized by a predominance of OSA type 2 which is associated with overweight/obesity. The treatment of OSA in adolescents depends on the cause of OSA and its risk and / or precipitating factors. Adenotonsillectomy is the cornerstone of OSA treatment in case of hypertrophy of the adenoids and/or tonsils. An anti-inflammatory treatment has proven its efficacy in mild to moderate or mild residual OSA after adenotonsillectomy. Orthodontic treatments such as rapid maxillary expansion or jaw positioning are indicated in case of dentofacial disharmonies. Continuous positive airway pressure (CPAP), is mainly indicated in type-3 OSA, which is associated with craniofacial or upper airway malformations or anomalies and should be performed by a pediatric multidisciplinary team having an expertise in sleep and OSA. Finally, maxillofacial or craniofacial surgery may be indicated in adolescents with type-3 OSA. In conclusion, the treatment of OSA in adolescents is based on the type of OSA, its severity and the medical characteristics of each patient. [ABSTRACT FROM AUTHOR]

Classical childhood obstructive sleep apnea syndrome (OSAS) is relatively common, affecting approximately 1% to 2% of children between the ages of 3 to 6 years. Adenotonsillar hypertrophy is the prime cause, and adenotonsillectomy is the first-line treatment, leading to cure in most cases. However, OSAS is also found in some more rare but very numerous disorders, including craniofacial or upper airway deformities such as Pierre Robin sequence, Franceschetti syndrome, craniofacial stenosis, achondroplasia, Down syndrome, Prader-Willi syndrome, and mucopolysaccharidosis. Unlike in classical childhood OSAS, anatomical and functional upper airway abnormalities are the main pathophysiological determinants, clinical symptoms of sleep-disordered breathing are often slight or absent, and the syndrome is usually more severe than classical childhood OSAS and can be observed at any age; systematic sleep study is therefore justified. Isolated adenotonsillectomy is rarely able to cure the OSAS. Management should be multidisciplinary, including, severally or together, a pediatric ENT surgeon, pediatric maxillofacial surgeon, orthodontist, pediatric neurosurgeon, pediatric sleep specialist and an expert in pediatric non-invasive ventilation because of the frequent need for nocturnal respiratory support by non-invasive continuous positive airway pressure. It is important to be aware of these rare pathologies that may underlie OSAS, to enable early screening for sleep-disordered breathing and adapted therapy. [ABSTRACT FROM AUTHOR]

BACKGROUND: No guidelines are available for noninvasive ventilation (NIV) for cystic fibrosis (CF). OBJECTIVE: To survey and evaluate the use of NIV for CF in France. METHODS: We surveyed the coordinator physicians of every accredited CF center in France. RESULTS: The respondents represented 36 centers (15 pediatric centers, 13 adult centers, and 8 centers that see both pediatric and adult patients), which had a total of 4,416 patients with CF at the time of the study, 168 (3.8%) of whom were using NIV. NIV was being used more often in the adults centers (7.6% of these patients) than in the pediatric centers (1.2% of these patients) or adult-and-pediatric centers (4.1% of these patients) (P = .01). All the respondent centers use NIV as first-line treatment for severe hypercapnic respiratory exacerbation and for stahle diurnal hypercapnia, especially when associated with sleep disturbance. Bi-Ievel pressure-targeted ventilation is the preferred ventilation mode. Settings are adjusted based on arterial blood gas values, noninvasive evaluation of patient-ventilator synchrony, patient comfort, and sometimes a sleep study. The surveyed centers reported a number of expected benefits from NIV, but few of those benefits have been proven. Problems with NIV are common and limit its use. CONCLUSIONS: We found a relative homogeneity in these French centers' stated indications for and use of NIV, which highlights their numerous expectations about the benefits of NIV, which contrasts with the few validated benefits. Studies of the benefits of NIV are needed. [ABSTRACT FROM AUTHOR]

STUDY OBJECTIVES: To analyze the physiologic effects and tolerance of mechanical insufflation-exsufflation (MI-E) by means of mechanical cough assistance (Cough Assist; JH Emerson Company; Cambridge, MA) for children with neuromuscular disease. DESIGN: Prospective clinical trial. SETTING: Physiology laboratory of a pediatric pulmonary department of a university hospital. PATIENTS: Seventeen children with Duchenne muscular dystrophy (n = 4), spinal muscular atrophy (n = 4), or other congenital myopathy (n = 9) who were in a stable state. INTERVENTIONS: Pressures of 15, 30, and 40 cm H(2)O were cycled to each patient, with 2 s for insufflation and 3 s for exsufflation. One application consisted of six cycles at each pressure for a total of three applications. MEASUREMENTS AND RESULTS: Airway pressure and airflow were measured during every application. Breathing pattern, vital capacity (VC), sniff nasal inspiratory pressure (SNIP), peak expiratory flow (PEF), and respiratory comfort were evaluated at baseline and after each application. The tolerance of the patients was excellent, with a significant increase in the respiratory comfort score in all of the patients (p = 0.02). Expired volume during the MI-E application increased significantly to reach twice the VC at 40 cm H(2)O. Mean and maximal inspiratory and expiratory flows increased in a pressure-dependent manner. Breathing pattern did not change after the MI-E applications and pulse oximetric saturation remained stable within normal values, but the mean end-tidal carbon dioxide pressure decreased significantly. VC did not change, but the mean SNIP and PEF improved significantly after MI-E applications. CONCLUSIONS: Our results confirm the good tolerance and physiologic short-term benefit of the MI-E in children with neuromuscular disease who were in a stable state. [ABSTRACT FROM AUTHOR]

Rationale: Data on respiratory muscle performance in children with neuromuscular disorders are limited. Objectives: The aim of this study was to assess respiratory muscle strength by volitional and nonvolitional tests and to compare these tests with forced vital capacity. Methods: Inspiratory muscle strength was assessed by measuring transdiaphragmatic and esophageal pressures generated during volitional and nonvolitional maneuvers, whereas expiratory muscle strength was assessed by measuring the gastric pressure generated during a cough maneuver. Lung volumes were assessed by measuring forced vital capacity. Measurements and Main Results: Forty-one patients with Duchenne muscular dystrophy (n = 20), spinal amyotrophy (n = 8), and congenital myopathy (n = 13) were included, aged 2 to 18 yr. All the patients were able to perform the sniff and the cough maneuver. Sniff transdiaphragmatic pressure decreased with age in Duchenne patients, whereas it increased with age in patients with spinal amyotrophy and congenital myopathy. Magnetic stimulation of the phrenic nerves was obtained in all patients. Twenty-five (61%) patients were able to perform forced vital capacity. In the three groups of patients, a positive correlation was observed between volitional, assessed by the sniff maneuver, and nonvolitional respiratory muscle tests, assessed by the magnetic stimulation of the phrenic nerves. Also, forced vital capacity correlated with sniff transdiaphragmatic pressure and cough gastric pressure. Conclusions: Volitional respiratory muscle tests correlated with nonvolitional tests and with forced vital capacity. Simple volitional respiratory muscle tests constitute a valuable tool for the assessment of respiratory muscle strength in young patients with neuromuscular disorders. [ABSTRACT FROM AUTHOR]

Study Objective: s: The aim of the study was to evaluate the efficacy and safety of premixed 50% nitrous oxide and oxygen on the quality of sedation and pain control during fiberoptic bronchoscopy (FB) in children.Design: A prospective, randomized, double-blind study.Setting: Pediatric pulmonary department in a pediatric tertiary university hospital.Patients: One hundred five children aged 1 month to 18 years.Interventions: Patients inhaled after sedation and local anesthesia either premixed 50% nitrous oxide and oxygen (nitrous oxide group) or premixed 50% nitrogen and oxygen (control group) during FB.Measurement and Results: The rate of failure was significantly greater in the control group (62%) than in the nitrous oxide group (21%, p = 0.00003). The efficacy of premixed 50% nitrous oxide and oxygen was also demonstrated with higher satisfaction scores (p = 0.000001), lower Children's Hospital of Eastern Ontario Pain Scores (p = 0.002), better visual analog scale ratings (p = 0.03), and improved behavior scores. Side effects were minor and similar in both groups.Conclusions: This study demonstrates the improved efficacy of sedation, pain control, and safety of premixed 50% nitrous oxide and oxygen for FB in children. [ABSTRACT FROM AUTHOR]

Study Objectives: Cystic fibrosis (CF) is one of the most common inherited diseases among whites. Since the cloning of the CF transmembrane conductance regulator (CFTR) gene, a number of studies have focused on associations between the genotype and phenotype in CF. This had led to the progressive identification of new groups of patients, including those who have mild lung disease and those who have normal sweat chloride values (< 60 mEq/L). The aim of the present work was to provide information on the genotype and the phenotypic characteristics of children with intermediate-range sweat chloride test results.Patients and Results: We focused on children referred to the pulmonary department for various types of pulmonary disease and who had several sweat chloride test results with median values in the range of 40 to 60 mEq/L. Twenty-four patients over a 10-year period were enrolled (mean age, 4.8 years). Respiratory manifestations at initial evaluation included recurrent bronchitis, wheezing, chronic cough, and pneumonia. The duration of the follow-up ranged from 0.5 to 10.5 years. Sputum cultures revealed the presence of Haemophilus influenzae (10 children), Staphylococcus aureus (4 children), and Pseudomonas aeruginosa (3 children). Pancreatic insufficiency was found in two patients. Analysis of the entire coding sequence allowed identification of 16 known mutations in CFTR gene. Fifteen chromosomes (31.2%) carried a mutation in CFTR gene and one allele carried two mutations. Three patients were homozygous or double heterozygous (DeltaF508/DeltaF508, DeltaF508/3849 + 10 kb C-->T, S1235R/G551D). The 5-thymidine allele was identified in four children.Conclusion: These results indicate an higher frequency of CFTR gene mutations in patients with borderline sweat chloride test results, compared to data reported in the general population. They lead to the recommendations for complete pulmonary and GI investigations in this group of patients, as well as assiduous care and medical follow-up. [ABSTRACT FROM AUTHOR]