Management of obstructive sleep apnea syndrome type 1 in children and adolescents - A French consensus.

This document is the outcome of a group of experts brought together at the request of the French Society of Sleep Research and Medicine to provide recommendations for the management of obstructive sleep apnea syndrome type 1 (OSA1) in children. The recommendations are based on shared experience and published literature. OSA1 is suspected when several nighttime respiratory symptoms related to upper airway obstruction are identified on clinical history taking. A specialist otolaryngologist examination, including nasofibroscopy, is essential during diagnosis. A sleep study for OSA1 is not mandatory when at least two nighttime symptoms (including snoring) are noted. Therapeutic management must be individualized according to the location of the obstruction. Ear, nose, and throat (ENT) surgery is often required, as hypertrophy of the lymphoid tissues is the main cause of OSA1 in children. According to clinical findings, orthodontic treatment generally associated with specialized orofacial-myofunctional therapy might also be indicated. Whatever treatment is chosen, follow-up must be continuous and multidisciplinary, in a network of trained specialists.

Weaning from noninvasive ventilatory support in infants with severe bronchiolitis: An observational study.

BACKGROUND: The aim of the study was to analyze the weaning success, the type of weaning procedures, and weaning duration in consecutive infants hospitalized in a pediatric intensive care unit over a winter season. METHODS: A retrospective observational study was conducted in a pediatric intensive care unit in a tertiary center. Infants hospitalized for severe bronchiolitis were included and the weaning procedure from continuous positive airway pressure (CPAP), noninvasive ventilation (NIV), or high-flow nasal cannula (HFNC) was analyzed. RESULTS: Data from 95 infants (median age, 47 days) were analyzed. On admission, 26 (27%), 46 (49%), and 23 (24%) infants were supported with CPAP, NIV, and HFNC, respectively. Weaning failed in one (4%), nine (20%), and one (4%) infants while supported with CPAP, NIV, or HFNC, respectively (p = 0.1). In infants supported with CPAP, CPAP was stopped directly in five patients (19%) while HFNC was used as an intermediate ventilatory support in 21 (81%). The duration of weaning was shorter for HFNC (17 h, [IQR: 0-26]) than for CPAP (24 h, [14-40]) and NIV (28 h, [19-49]) (p < 0.01). CONCLUSIONS: The weaning phase corresponds to a large proportion of noninvasive ventilatory support duration in infants with bronchiolitis. The weaning procedure following a "step-down" strategy may lead to an increase in the duration of weaning.

Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.

BACKGROUND AND PURPOSE: To describe a large series of patients with α, ß, 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 ß-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 ß-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% ß-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.

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.

[Secondary surgeries in craniosynostosis and faciocraniosynostosis]. / Chirurgie secondaire des craniosténoses et faciocraniosténoses.

Secondary surgeries for single craniosynostosis surgeries are mainly esthetic refinements rather than functional indications. However, cranioplasties for bone defects correction or insufficient corrections may be undertaken. Management of syndromic craniosynostoses usually requires multiple surgical interventions, the sequence of which might vary per the genetic mutation. It is commonplace to start with posterior vault expansion before age 6 months, then treat cerebellar tonsillar herniation by the age of twelve months, and delay fronto-facial monobloc advancement until at least 18-24 months of age. Ventricular shunting is preferably avoided or delayed. Failure to respect these guidelines can significantly complicate the subsequent management. Primary fronto-orbital advancement or early facial osteotomy type Le Fort3, may compromise the subsequent fronto-facial monobloc advancement. However, this salvage secondary monobloc may be undertaken in some instances despite previous anterior osteotomies with a higher morbidity.

Contribution of a better maxillofacial phenotype in Silver-Russell syndrome to define a better orthodontics and surgical management.

INTRODUCTION: Maxillofacial phenotype for SRS is incompletely described in literature. The aim of this study was to describe a maxillofacial phenotype for SRS, to determine a better treatment. MATERIALS AND METHODS: A retrospective study was conducted including 37 patients with SRS. 24-control patients had been included and appareled. The subjective clinical examination included analyzes of SRS defined criteria. Frontal and lateral photographs had been reviewed, according to Farkas analysis; dental photographs had been examined for the deep-bite and the crowding severity. Radiologic cephalometric analysis had been reviewed. RESULTS: Maxillofacial examination showed protruding forehead (55%), anteverted ears (55%) and low-set ears (16%), small triangular face (48%); retrognatia (29%) and micrognathia (13%). SSR patients presented a lower forehead transverse growth, forehead height, and higher sagittal and transverse mandibular growth than control patients. Deep-bite was present in 21 patients of patient, and crowding in 17 patients. Cephalometric analysis showed 18 patients with the skeletal class II. We did not note a correlation between sleep apnea and retrognatia, neither between genetic anomalies and craniofacial phenotype. CONCLUSION: In this study, we showed new SRS characteristics: small forehead, small mandible, skeletal class II and a dental phenotype, leading to a specific maxillofacial and orthopedic management.

[Non-invasive ventilation in children: Do we need more evidence?] / Intérêt de la ventilation non invasive en réanimation pédiatrique : doit-on espérer un autre niveau de preuve ?

Respiratory failure is the leading cause of hospital admissions in the pediatric intensive care unit (PICU) and is associated with significant morbidity and mortality. Mechanical ventilation, preferentially delivered by a non-invasive route (NIV), is currently the first-line treatment for respiratory failure since it is associated with a reduction in the intubation rate. This ventilatory support is increasingly used in the PICU, but its wider use contrasts with the paucity of studies in this field. This review aims to describe the main indications of NIV in acute settings: (i) bronchiolitis; (ii) postextubation respiratory failure; (iii) acute respiratory distress syndrome; (iv) pneumonia; (v) status asthmaticus; (vi) acute chest syndrome; (vii) left heart failure; (viii) exacerbation of chronic respiratory failure; (ix) upper airway obstruction and (x) end-of-life care. Most of these data are based on descriptive studies and expert opinions, and few are from randomized trials. While the benefit of NIV is significant in some indications, such as bronchiolitis, it is more questionable in others. Monitoring these patients for the occurrence of NIV failure markers is crucial.

[Obesity and obstructive sleep apnea in children]. / Obésité et SAOS de l'enfant.

Obesity, along with hypertrophy of the adenoids and the tonsils, represents one of the major risk factors for obstructive sleep apnea (OSA) in children. Obesity is associated with an increase in the prevalence and the severity of OSA and is a major factor in the persistence and aggravation of OSA over time. Neurocognitive dysfunction and abnormal behavior are the most important and frequent end-organ morbidities associated with OSA in children. Other deleterious consequences such as cardiovascular stress and metabolic syndrome are less common in children than in adults with OSA. Defining the exact role of obesity in OSA-associated end-organ morbidity in children is difficult because of the complex and multidimensional interactions between sleep in general, OSA, obesity, and metabolic dysregulation. This may explain why obesity itself has not been shown to be associated with a significant increase in OSA-associated end-organ morbidity. Obesity is linked to a decreased treatment efficacy and, in particular, of adenotonsillectomy. Peri- and postoperative complications are more common and more severe in obese children as compared with normal-weight controls. Continuous positive airway pressure (CPAP) is frequently needed, but compliance with CPAP is less optimal in obese children than in non-obese children. In conclusion, obesity represents a major public health problem worldwide; its prevention is one of the most efficient tools for decreasing the incidence and the morbidity associated with OSA in children.

[Craniofacial strategy for syndromic craniosynostosis]. / Stratégie craniofaciale pour les faciocraniosténoses.

The complexity of treatment of faciocraniosynostosis justifies the treatment in a reference center for rare diseases. The growth disturbances in the skull and face being variable according to the type of mutation in the FGFr (Crouzon, Pfeiffer, Apert), the strategy is adapted to the phenotype according to the following principles: posterior expansion with or without distraction around 6 months to limit the descent of the cerebellum tonsils and to prevent the turricephalic development; fronto-facial monobloc advancement with internal distraction around the age of 18 months in case of severe exorbitism or breathing impairment. The dissociated strategy (fronto-orbital advancement first, followed by facial osteotomy of Le Fort 3 type). The growing evolution dictates the sequence of subsequent surgeries according to the monitoring of intracranial pressure by fundus examination and of the respiration by polysomnography. Le Fort 3 and transversal maxillary distraction may be repeated if necessary. Orthognathic surgery is almost always compulsory after the age of 14, before the aesthetic refinements which can be undertaken ultimately (rhinoplasty, genioplasty, canthopexies, fat grafting…).

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.

Pycnodysostosis presenting as atypical stridor.

OBJECTIVES: Pycnodysostosis is a rare genetic disorder caused by a mutation of the cathepsin K gene involved in bone turnover. It is responsible, in particular, for a combination of dwarfism and bone fragility. Upper airway obstruction may be observed, but associated stridor has never been previously described. MATERIALS AND METHODS: Single-centre retrospective study over a period of 15 years with review of the literature. RESULTS: Three children (aged 2-18 months) were managed for stridor and obstructive sleep apnoea syndrome confirmed by polysomnography. Physical examination of these children revealed stridor with laryngomalacia, characteristic dysmorphic features and failure to thrive. Patient 1 presented typical laryngomalacia treated by surgical section of the aryepiglottic folds. Patient 2 presented upper airway obstruction with a narrow nasopharynx and long soft palate, treated by surgery and noninvasive ventilation. Patient 3 presented moderate laryngomalacia and nasal obstruction, treated by surgery and noninvasive ventilation. CONCLUSION: The diagnosis of pycnodysostosis must be considered in the presence of atypical laryngomalacia associated with multifactorial upper airway obstruction, failure to thrive and dysmorphic syndrome. A genetics consultation is essential in these patients.

Respiratory morbidity of preterm infants of less than 33 weeks gestation without bronchopulmonary dysplasia: a 12-month follow-up of the CASTOR study cohort.

The aim of this study was to describe the incidence and risk factors for respiratory morbidity during the 12-month period following the first respiratory syncytial virus (RSV) season in 242 preterm infants [<33 weeks gestational age (GA)] without bronchopulmonary dysplasia and 201 full-term infants (39-41 weeks GA) from the French CASTOR study cohort. Preterm infants had increased respiratory morbidity during the follow-up period compared to full-terms; they were more likely to have wheezing (21% vs. 11%, P = 0·007) and recurrent wheezing episodes (4% vs. 1%, P = 0·049). The 17 infants (14 preterms, three full-terms) who had been hospitalized for RSV-confirmed bronchiolitis during their first RSV season had significantly more wheezing episodes during the follow-up period than subjects who had not been hospitalized for RSV-confirmed bronchiolitis (odds ratio 4·72, 95% confidence interval 1·71-13·08, P = 0·003). Male gender, birth weight <3330 g and hospitalization for RSV bronchiolitis during the infant's first RSV season were independent risk factors for the development of wheezing episodes during the subsequent 12-month follow-up period.

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.

Pregnancy is associated with a decrease in pharyngeal but not tracheal or laryngeal cross-sectional area: a pilot study using the acoustic reflection method.

BACKGROUND: The risk of difficult upper airway access is increased during pregnancy, especially in labor. Changes in upper airway calibre have been poorly studied during pregnancy. The acoustic reflection method is a non-invasive technique that allows a longitudinal assessment of the cross-sectional area of the upper airway from the mouth to carina. We used this technique to evaluate upper airway calibre during normal pregnancy. METHODS: We conducted a prospective, single centre, observational study with a clinical and upper airway acoustic reflection method evaluation of healthy women during the first, second and third trimesters of pregnancy, and up to two days and one month after delivery. RESULTS: Fifty women participated to the study. The mean pharyngeal cross-sectional area decreased between the first and third trimesters (P < 0.001) with no significant change of the minimal and mean tracheal cross-sectional areas. The Mallampati score increased during pregnancy between the first and third trimesters (P< 0.001). CONCLUSION: Using measurements with the acoustic reflection method, normal pregnancy is associated with a significant reduction in the cross-sectional area of the pharynx and a concomitant increase in the Mallampati score. No change was observed in the minimal and mean tracheal cross-sectional areas.

Massive splenomegaly and pancytopenia reuealing sarcoidosis in a child.

Clinical presentation of sarcoidosis in children is very variable and dependant upon age. Herein, we report the first association of massive splenomegaly and pancytopenia as the revealing mode of sarcoidosis in an 8-year-old girl who, despite bone marrow involvement, had a remarkable good outcome following steroid therapy.

Non-invasive positive-pressure ventilation in children in otolaryngology.

INTRODUCTION: Obstructive diseases of the upper airways are common in children and sometimes difficult to manage. Non-invasive positive-pressure ventilation (NPPV) consists of delivering continuous positive pressure during all or part of the respiratory cycle via a non-invasive interface (face mask or nasal mask, or nasal prongs). NPPV is the treatment of choice for severe obstructive sleep apnoea in children and should be considered prior to tracheotomy and is also indicated in the case of persistent sleep-disordered breathing following surgical treatment, a frequent situation in children with a malformation of the head and neck or upper airways. DISCUSSION: A simple ventilator, able to deliver continuous positive airway pressure, is sufficient is most cases in otolaryngology. The interface represents the major technical limitation of NPPV, especially in infants for whom no appropriate commercial interface is available. A sleep study before and after initiation of NPPV, followed by regular follow-up examinations, is essential to confirm correction of gas exchanges and sleep quality in response to NPPV. CONCLUSION: Finally, NPPV must be performed in a specialized paediatric centre with specific expertise in this field.