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Objectives: Children with Chiari malformation type I (CM-I) have an increased risk of sleep apnea. The aim of the study was to describe the management of CM-I patients in relation to symptoms, magnetic resonance imaging (MRI) findings and sleep apnea syndrome (SAS)., Methods: We performed a retrospective analysis of clinical charts of all 57 CM-I patients seen between September 2013 and April 2017., Results: A total of 45 patients had isolated CM-I or associated co-morbidity (CM-Iia), 5 had craniosynostosis (CM-Ics), and 7 a polymalformative syndrome (CM-Ipm). The prevalence of SAS, defined as an apnea-hypopnea index >1 event/h, was high in CM-I ranging from 50% to 80% according to the CM-I group. The prevalence of central sleep apnea (CSA) was low, with 5 (9%) patients having CSA and only 3 patients with CM-Iia having isolated CSA. A total of 17 patients (30%) had foramen magnum decompression (FMD). Neither positive symptoms of CM-I nor MRI findings alone, nor both combined were good indicators for FMD. No correlation was observed between the cerebellar tonsil descent and SAS in CM-I. But all 5 patients with CSA had a FMD. The combination of MRI findings and/or symptoms of CM-I together with moderate-to-severe SAS best discriminated patients who needed a FMD., Conclusion: Our findings highlight the importance of a combined evaluation of symptoms, MRI and polygraphy results in the management of CM-I patients., (© 2022 Wiley Periodicals LLC.)

Introduction: Obstructive sleep apnea (OSA) is a well-recognized complication of velopharyngeal insufficiency (VPI) surgery, but studies assessing OSA by means of a respiratory polygraphy (PG) are scarce. The aim of the study was to evaluate the incidence of new-onset OSA after posterior flap pharyngoplasty (PFP)., Materials: The postoperative PG of children with VPI who had a normal preoperative PG were analyzed., Results: Eighteen patients (mean age, 9.8 ± 4.8 years; Pierre Robin sequence [n = 5], isolated cleft palate [n = 7], 22q11 deletion [n = 3], and 3 other diagnoses) were included in the study. Mean delay between surgery and the postoperative PG was 11.5 ± 13.5 months. Two patients (11%) developed severe OSA after PFP. One patient with 22q11 deletion developed overt OSA symptoms immediately after surgery with an apnea-hypopnea index (AHI) of 39 events per hour, requiring continuous positive airway pressure (CPAP) therapy. Obstructive sleep apnea improved spontaneously after 10 months, with an AHI of 2 events/h after CPAP weaning. The second patient had a cleft palate associated with a fetal alcohol syndrome and developed OSA symptoms after surgery with an AHI of 18 events/h requiring CPAP therapy. He could be weaned from CPAP 6 months later after a complete section of the pharyngeal flap with an AHI of 6 events/h during spontaneous breathing., Conclusions: New-onset OSA after PFP in children with VPI who had a normal preoperative PG was uncommon (11%) in the present cohort., Competing Interests: Conflicts of interest and sources of funding: none declared., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

The relationship between neurofibromatosis type 1 (NF1) and sleep-disordered breathing (SDB) has not been widely studied. The aim of the study was to analyze SDB in children with NF1 of the respiratory system. All children with NF1 followed between September 2008 and July 2020 who had a respiratory polygraphy (RP) were included. The clinical charts, cerebral and cervical magnetic resonance imaging (MRI), and RP were analyzed. Twenty-two patients (11 girls, median age at RP 8.3 [0.2-18.2] years) were included in the study. Nine patients (41%) had a NF1 involvement of the upper airways, 13 (59%) patients of the central nervous system (CNS), the cranial nerves (CN) and/or medulla, and 17 (77%) patients had a hypertrophy of the adenoids and/or tonsils. Five patients were treated with Continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) before their first evaluation because of severe obstructive sleep apnea (OSA). Accordingly, 10 (45%) patients had no OSA, one (5%) mild OSA, 2 (9%) moderate OSA, and nine (41%) severe OSA. None of the patients had central sleep apnea. Despite upper airway surgery, three patients required CPAP, two could be weaned and one died after a switch to tracheostomy. None of the patients treated with CPAP/NIV could be weaned, one patient required tracheostomy. Neither the clinical nor the MRI findings were able to predict OSA on a RP. The prevalence of OSA in NF1 is high, regardless of the nature of airway obstruction and the clinical and MRI findings, underlining the value of a systematic RP. CPAP may reduce the need of tracheostomy., (© 2022 Wiley Periodicals LLC.)

Aim: The aim of the study was to assess the emotional and behavioural functioning of siblings of children treated with long term non-invasive ventilation (NIV)., Methods: Parents of children treated with NIV completed the Child Behaviour Checklist and a qualitative questionnaire for each sibling, aged 1.5-18 years old., Results: The parents of 49 ventilated children were questioned about 79 siblings. For the siblings aged 1.5-5, mean total T score was 57 ± 22 (range 28-92), and five siblings (31%) were in the clinical range. For the siblings aged 6-18, mean total T score was 49 ± 12 (range 26-71), and six siblings (10%) were in the clinical range. Siblings felt responsible for their affected sibling (31%) and involved with his/her illness (52%), with 31% being worried about him/her. A change in behaviour was observed in 19% of the siblings since the initiation of NIV; 26% were impacted by the use of the NIV device., Conclusions: The majority of siblings of children treated with NIV do not present significant emotional and behavioural problems. They feel deeply responsible for their affected sibling and involved in his/her illness and treatment, highlighting the importance to involve the siblings in the care of the affected child., (© 2021 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).)

Central sleep apneas and periodic breathing are poorly described in childhood. The aim of the study was to describe the prevalence and characteristics of central sleep apnea and periodic breathing in children with associated medical conditions, and the therapeutic management. We retrospectively reviewed all poly(somno)graphies with a central apnea index ≥ 5 events per hr in children aged > 1 month performed in a paediatric sleep laboratory over a 6-year period. Clinical data and follow-up poly(somno)graphies were gathered. Ninety-five out of 2,981 patients (3%) presented central sleep apnea: 40% were < 1 year, 41% aged 1-6 years, and 19% aged ≥ 6 years. Chiari malformation was the most common diagnosis (13%). Mean central apnea index was 20 ± 30 events per hr (range 5-177). Fifty-eight (61%) children had an exclusive central pattern with < 5 obstructive events per hr. Periodic breathing was present in 79 (83%) patients, with a mean percentage of time with periodic breathing of 9 ± 16%. Among periodic breathing episodes, 40% appeared after a sigh, 8% after an obstructive event, 6% after breathing instability and 2% after bradypnea. The highest clinical apnea index and percentage of time with periodic breathing were observed in children with encephalopathy and/or epilepsy (68 ± 63 events per hr and 30 ± 34%). Clinical apnea index did not differ according to age, while periodic breathing duration was longer in children > 1 year old. Watchful waiting was performed in 22 (23%) patients with spontaneous improvement in 20. Other treatments (upper airway or neurosurgery, nocturnal oxygen therapy, continuous positive airway pressure, non-invasive ventilation) were effective in selected patients. Central sleep apnea is rare in children and comprises heterogeneous conditions. Sleep studies are essential for the diagnosis, characterization and management of central sleep apnea., (© 2021 The Authors. Journal of Sleep Research published by John Wiley & Sons Ltd on behalf of European Sleep Research Society.)

The aim of the study was to assess the scorability of the signals of four poly(somno)graphy devices and transcutaneous carbon dioxide tracings (PtcCO 2 ) of one device in children. The presence (0%, < 25%, 25%-50%, 50%-75%, 75%-99%, 100% of recording time) and quality (bad, average, good) of the signal of each sensor were analysed. During a 5-month period, 364 poly(somno)graphies were performed in 12 different hospital units. Forty-one children had poor/bad cooperation, and 13 severe behaviour disorders. Seventy-one and 293 poly(somno)graphies were performed in children aged ≤ 2 and > 2 years, respectively; nine poly(somno)graphies failed. For the four poly(somno)graphy devices, the signal was present during 99% of recording time for the electroencephalogram, 99% for thoracic belt, 97% for abdominal belt, 97% for body position, 95% for the microphone, 92% for pulse oximetry, 87% for tracheal sound, 71% for oronasal thermistor, 52% (41% for ≤ 2 years, 55% for > 2 years old) for nasal pressure and 86% for PtcCO 2 . The signal was of good quality in 98% of poly(somno)graphies for body position, 96% for microphone, 96% for thoracic belt, 95% for pulse oximetry, 91% for abdominal belt, 91% for tracheal sound, 82% for oronasal thermistor, 78% for electroencephalogram, 73% for nasal pressure and 46% of PtcCO 2 recordings. The scorability was comparable between devices. Nasal pressure and oronasal thermistor had the lowest scorability, especially in children aged ≤ 2 years. This underlines the necessity of the development or improvement of alternative, ideally face-free, sensors, or miniaturized devices adapted for infants and children., (© 2021 European Sleep Research Society.)

Background: The aim of the study was to explore the subjective perception of their own sleep and daytime habits in (pre-)adolescents with chronic diseases., Methods: Self-administered questionnaires exploring daytime and nighttime habits, health behavior, daytime sleepiness, depression and anxiety were fulfilled by the (pre-)adolescents., Results: Hundred sixty one patients with a chronic disease, aged 14.3±2.6 years old, participated to the study. Mean total time in bed was 8h52±1h09 (range 5h00-11h30) on school days (TIBS) and 9h59±1h28 (range 6h00-14h00) on non school days (TIBN), with 11 (7%) adolescents reporting sleeping ≤7 hours during schooldays. The mean sleep time difference between TIBS and TIBN was 67±95 minutes (range -210-330 min), with 33 patients (20%) having a sleep debt>2h, and 38% reporting sleep initiating problems. Patients with cystic fibrosis had the lowest mean TIBS, the highest percentage (37%) of patients with sleep debt>2h. Obese patients were the sleepiest (33%) with 8% having sleep debt. Anxiety and severe depression were observed in 22% and 20% of the patients, respectively, and correlated with fatigue at wake up and daytime sleepiness., Conclusions: In these (pre-)adolescents with a chronic disease, 20% had sleep debt but sleep duration was reasonable with acceptable respect of sleep hygiene rules.

Background: Sleep disordered breathing (SDB) is common in adults with chronic heart failure (CHF), but its prevalence in children remains unclear. Continuous positive airway pressure (CPAP) is the treatment of SDB but deleterious hemodynamic effects have been reported., Methods: We prospectively analyzed SDB in children with CHF and the effect of CPAP on work of breathing (WOB) and cardiac index (CI). Children aged 6 months to 18 years old with CHF due to: 1) dilated cardiomyopathy (DM) with an ejection fraction < 45%, 2) functional single ventricle (SV) or 3) aortic or mitral valve disease awaiting surgery (VD) were eligible for the study. A polysomnography (PSG), measurement of WOB and CI during spontaneous breathing (SB) and CPAP (6, 8 and 10 cmH 2 O) were performed., Results: Thirty patients with mean age of 6.4 ± 5 years were included (16 DM 16, 10 SV, 4 LV). Twenty (73%) patients had a normal sleep efficiency. Median apnoeas hypopnea index (IAH) was within normal range at 1.6 events/h (0, 14) events/hour. Only one patient had central sleep apnoeas, none had Cheyne-Stokes respiration, and 3 patients had an obstructive AHI between 5 and 10 events/hour. Optimal CPAP level decreased WOB (p = 0.05) and respiratory rate (p = 0.01)., Conclusions: Severe SDB was uncommon in children with CHF. However, CPAP may be beneficial by decreasing WOB and respiratory rate without deleterious effects on CI., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with spondyloepiphyseal dysplasia congenita (SEDC), metatropic dysplasia (MD), spondyloepimetaphyseal dysplasia (SEMD), acrodysostosis (ADO), geleophysic dysplasia (GD), acromicric dysplasia (AD), and spondylocostal dysplasia (SCD) between April 2014 and October 2020. Polygraphic data, clinical management, and patients' outcome were analyzed. Thirty-one patients were included (8 SEDC, 3 MD, 4 SEMD, 1 ADO, 4 GD, 3 AD, and 8 SCD). Sixteen patients had obstructive sleep apnea (OSA): 11 patients (2 with SEDC, 1 with SEMD, 1 with ADO, 1 with GD, 2 with AD, and 4 with SCD) had mild OSA, 2 (1 SEMD and 1 GD) had moderate OSA, and 3 (1 SEDC, 1 MD, 1 SEMD) had severe OSA. Adenotonsillectomy was performed in one patient with SCD and mild OSA, and at a later age in two other patients with ADO and AD. The two patients with moderate OSA were treated with noninvasive ventilation (NIV) because of nocturnal hypoxemia. The three patients with severe OSA were treated with adenotonsillectomy (1 SEDC), adeno-turbinectomy and continuous positive airway pressure (CPAP; 1 MD), and with NIV (1 SEMD) because of nocturnal hypoventilation. OSA and/or alveolar hypoventilation is common in patients with skeletal dysplasias, underlining the importance of systematic screening for SDB. CPAP and NIV are effective treatments for OSA and nocturnal hypoventilation/hypoxemia., (© 2021 Wiley Periodicals LLC.)

Objective: To describe the characteristics of children treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in France., Design: Cross-sectional national survey., Setting: Paediatric CPAP/NIV teams of 28 tertiary university hospitals in France., Patients: Children aged <20 years treated with CPAP/NIV since at least 3 months on June 1st, 2019., Intervention: An anonymous questionnaire was filled in for every patient., Results: The data of 1447 patients (60% boys), mean age 9.8 ± 5.8 years were analysed. The most frequent underlying disorders were: upper airway obstruction (46%), neuromuscular disease (28%), disorder of the central nervous system (13%), cardiorespiratory disorder (7%), and congenital bone disease (4%). Forty-five percent of the patients were treated with CPAP and 55% with NIV. Treatment was initiated electively for 92% of children, while 8% started during an acute illness. A poly(somno)graphy (P(S)G) was performed prior to treatment initiation in 26%, 36% had a P(S)G with transcutaneous carbon dioxide monitoring (PtcCO 2 ), while 23% had only a pulse oximetry (SpO 2 ) with PtcCO 2 recording. The decision of CPAP/NIV initiation during an elective setting was based on the apnea-hypopnea index (AHI) in 41% of patients, SpO 2 and PtcCO 2 in 25% of patients, and AHI with PtcCO 2 in 25% of patients. Objective adherence was excellent with a mean use of 7.6 ± 3.2 h/night. Duration of CPAP/NIV was 2.7 ± 2.9 years at the time of the survey., Conclusion: This survey shows the large number of children treated with long term CPAP/NIV in France with numerous children having disorders other than neuromuscular diseases., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Objective: Obstructive sleep apnea (OSA) is common in adult patients with interstitial lung disease (ILD). The aim of the study was to evaluate the prevalence of OSA and sleep quality in children and young adults with children's interstitial and diffuse lung disease (chILD)., Methods: A polysomnography (PSG) was performed in room air in all consecutive patients followed at a national reference centre between June 2018 and September 2019. Clinical and PSG data were collected., Results: The PSG data of 20 patients (12 girls, median age 9 (range 0.5-20) years), were analyzed. Seven (35%) patients had pulmonary alveolar proteinosis (PAP), 5 (25%) a disorder of surfactant metabolism, 3 (15%) diffuse pulmonary hemorrhage, 4 (20%) chILD of unknown etiology and one patient had laryngeal and pulmonary sarcoidosis. The median obstructive apnea-hypnea index (OAHI) was normal at 0 events/hour, with a value > 4 events/hour being observed in 2 young adults: an 18-year-old male with PAP and a vital capacity of 27% predicted who had an OAHI of 10.7 events/hour, and a 20-year-old male with laryngeal and pulmonary sarcoidosis who had positional OSA with an OAHI of 19.5 events/hour. The median total sleep time, sleep efficiency, % of wake after sleep onset, and sleep stages were moderately disturbed., Conclusions: Moderate or severe OSA was not observed in children <18 years with chILD. Mild or moderate OSA was observed in 2 young adults with PAP and sarcoidosis. As opposed to adults, OSA seems uncommon in children with chILD., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Introduction: Nusinersen is associated with an improvement in motor function in children with spinal muscular atrophy (SMA) but data on respiratory muscles strength are scarce. Respiratory muscles performance and lung function were evaluated in children with SMA 1c and 2 after six injections of nusinersen (M14). Results from patients with SMA2 were compared with data of age-matched historical controls. Motor function tests (MFM and HINE-2) were assessed at baseline and M14 in the treated patients., Results: Sixteen children (2 SMA Type 1c and 14 SMA Type 2), mean age 9.4 ± 2.3 years, were included. The data of 14 historical SMA 2 controls (mean age 9.3 ± 1.9 years) were gathered. The strength of the global inspiratory muscles of SMA 2 treated with nusinersen, assessed on maximal static inspiratory pressure, forced vital capacity, and esophageal pressure during a maximal sniff was significantly better compared with historical controls (p < .05). A significant improvement in MFM and HINE-2 was observed in the patients with 16 SMA treated with nusinersen after 14 months as compared with baseline., Conclusion: In children with SMA Type 2, respiratory muscle performance was significantly better after six injections of nusinersen as compared with age-matched SMA Type 2 historical controls., (© 2020 Wiley Periodicals LLC.)

Background: The aim of CPAP and noninvasive ventilation (NIV) is to correct sleep-disordered breathing and nocturnal gas exchange. The aim of the study was to analyze the results of a systematic home pulse oximetry ([Formula: see text]) and transcutaneous carbon dioxide ([Formula: see text]) monitoring in stable pediatric subjects on long-term CPAP/NIV or screened for CPAP/NIV weaning, and the consequent interventions in the subjects with abnormal gas exchange., Methods: The home overnight [Formula: see text] and [Formula: see text] recordings of stable pediatric subjects treated with or weaned from CPAP, NIV, or high-flow nasal cannula between January 2017 and March 2018 were analyzed., Results: A total of 110 recordings, performed in 79 subjects, median age 6 (interquartile range [IQR] 1.5-14) y, were analyzed. Fifty-two recordings (47%) were performed during NIV, 43 (39%) during CPAP, 2 (2%) during high-flow nasal cannula, and 13 (12%) during a spontaneous ventilation weaning trial from ventilatory support. The quality of recording was excellent in 81% of recordings, 5 recordings (5%) had <4 h of recording time, 5 (5%) had artifacts on the [Formula: see text] signal, and 16 (15%) had artifacts on the [Formula: see text] signal. Gas exchange abnormalities were observed in 11 subjects with [Formula: see text] > 50 mm Hg during ≥ 2% of recording time ( n = 8), mean [Formula: see text] ≥ 50 mm Hg ( n = 6), mean [Formula: see text] < 35 mm Hg ( n = 3), and [Formula: see text] < 90% during ≥ 2% of recording time ( n = 2). Consequent interventions were (multiple interventions possible): change of device settings ( n = 6), change of interface ( n = 2), switched to high-flow nasal cannula ( n = 1), and a control recording ( n = 2)., Conclusions: A significant number (∼12%) of systematic home [Formula: see text] and [Formula: see text] recordings in stable pediatric subjects treated with CPAP/NIV were abnormal and may be corrected by adequate therapeutic interventions., (Copyright © 2020 by Daedalus Enterprises.)

The respiratory muscles are rarely spared in children with neuromuscular diseases (NMD) which puts them at risk of alveolar hypoventilation. The role of non-invasive ventilation (NIV) is then to assist or "replace" the weakened respiratory muscles in order to correct alveolar hypoventilation by maintaining a sufficient tidal volume and minute ventilation. As breathing is physiologically less efficient during sleep, NIV will be initially used at night but, with the progression of respiratory muscle weakness, NIV can be extended during daytime, preferentially by means of a mouthpiece in order to allow speech and eating. Although children with NMD represent the largest group of children requiring long term NIV, there is a lack of validated criteria to start NIV. There is an agreement to start long term NIV in case of isolated nocturnal hypoventilation, before the appearance of daytime hypercapnia, and/or in case of acute respiratory failure requiring any type of ventilatory support. NIV is associated with a correction in night- and daytime gas exchange, an increase in sleep efficiency and an increase in survival. NIV and/or intermittent positive pressure breathing (IPPB) have been shown to prevent thoracic deformities and consequent thoracic and lung hypoplasia in young children with NMD. NIV should be performed with a life support ventilator appropriate for the child's weight, with adequate alarms, and an integrated (±additional) battery. Humidification is recommended to improve respiratory comfort and prevent drying of bronchial secretions. A nasal interface (or nasal canula) is the preferred interface, a nasobuccal interface can be used with caution in case of mouth breathing. The efficacy of NIV should be assessed on the correction of alveolar ventilation. Patient ventilator synchrony and the absence of leaks can be assessed on a sleep study with NIV or on the analysis of the ventilator's in-built software. The ventilator settings and the interface should be adapted to the child's growth and progression of respiratory muscle weakness. NIV should be associated with an efficient clearance of bronchial secretions by a specific program on the ventilator, IPPB, or mechanical insufflation-exsufflation. Finally, these children should be managed by an expert pediatric multi-disciplinary team., (Copyright © 2020 Fauroux, Khirani, Griffon, Teng, Lanzeray and Amaddeo.)

Aim: To examine how children with sleep-disordered breathing express their own sleep through drawing., Methods: Children hospitalised for a sleep study in a sleep laboratory of a tertiary hospital were asked to draw a human figure and themselves while asleep. Characteristics of the two drawings were analysed and compared along with a descriptive analysis of some drawings., Results: Children with sleep-disordered breathing and an associated disorder, n = 34, age 5-11 years, participated in the study. The size of the human figure, the colours used, the orientation of the sheet, the type of drawing strokes and the objective quality of the drawing were comparable between the two drawings. On the sleep drawing, 71% of the children drew a bed, 15% drew themselves asleep, 19% represented snoring and 12% night elements. Sixty-two per cent of the children preferred the human drawing to the sleep drawing. A descriptive analysis of 12 drawings showed the influence of the associated disorder on the two drawings., Conclusion: This study showed how the associated disease of children with sleep-disordered breathing infiltrated their imaginary life. The sleep drawing gave useful information about representation, fears and wishes in relation to the associated disease and the child's sleeping., (© 2020 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)

Non-invasive ventilation (NIV) and continuous positive airway pressure (CPAP) are effective treatments for children with severe sleep disordered breathing (SBD). However, some patients may present too severe SDB that do not respond to NIV/CPAP or insufficient compliance to treatment. A careful revaluation of the interface and of ventilator settings should be performed before considering alternative treatments. In patients with obstructive sleep apnea (OSA), alternatives to CPAP/NIV rely on the underlying disease. Ear-nose-throat (ENT) surgery such as adeno-tonsillectomy (AT), turbinectomy or supraglottoplasty represent an effective treatment in selected patients before starting CPAP/NIV and should be reconsidered in case of CPAP failure. Rapid maxillary expansion (RME) is restricted to children with OSA and a narrow palate who have little adenotonsillar tissue, or for those with residual OSA after AT. Weight loss is the first line therapy for obese children with OSA before starting CPAP and should remain a priority in the long-term. Selected patients may benefit from maxillo-facial surgery such as mandibular distraction osteogenesis (MDO) or from neurosurgery procedures like fronto-facial monobloc advancement. Nasopharyngeal airway (NPA) or high flow nasal cannula (HFNC) may constitute efficient alternatives to CPAP in selected patients. Hypoglossal nerve stimulation has been proposed in children with Down syndrome not tolerant to CPAP. Ultimately, tracheostomy represents the unique alternative in case of failure of all the above-mentioned treatments. All these treatments require a multidisciplinary approach with a personalized treatment tailored on the different diseases and sites of obstruction. In patients with neuromuscular, neurological or lung disorders, non-invasive management in case of NIV failure is more challenging. Diaphragmatic pacing has been proposed for some patients with central congenital hypoventilation syndrome (CCHS) or neurological disorders, however its experience in children is limited. Finally, invasive ventilation via tracheotomy represents again the ultimate alternative for children with severe disease and little or no ventilatory autonomy. However, ethical considerations weighting the efficacy against the burden of this treatment should be discussed before choosing this last option., (Copyright © 2020 Amaddeo, Khirani, Griffon, Teng, Lanzeray and Fauroux.)

Diaphragmatic dysfunction has been reported in congenital myopathies, muscular dystrophies, and occasionally, mitochondrial respiratory chain deficiency. Using a minimally invasive procedure in 3 young girls, 1 with a heteroplasmic MT-CYB mutation and 2 with biallelic pathogenic TK2 variants, we provided functional evidence of diaphragmatic dysfunction with global respiratory muscle weakness in mitochondrial respiratory chain deficiency. Analysis of respiratory muscle performance using esogastric pressures revealed paradoxical breathing and severe global inspiratory and expiratory muscle weakness with a sniff esophageal inspiratory pressure and a gastric pressure during cough averaging 50% and 40% of predicted values, respectively. This diaphragmatic dysfunction was responsible for severe undiagnosed nocturnal hypoventilation, requiring noninvasive ventilation. Our results underline the interest of this minimally invasive procedure for the evaluation of respiratory muscle performance and its potential value for the monitoring of future clinical trials in respiratory chain deficiency., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Once continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) is started in a child, and the child is discharged home, follow-up needs to be organized with regular visits in order to check the tolerance and efficacy of the treatment. But there is a lack of validated clinical guidelines, mainly because of the heterogeneity of the ventilator servicing, the costs and health care systems among countries. Therefore, visits timing and strategies to monitor CPAP/NIV are not clearly defined. Moreover, depending on various factors such as the underlying disorder, the medical stability, the age of the child, and socio-economic factors, follow-up usually ranges between 1 month and 3-6 months, or even 1 year following treatment initiation, with an overnight hospital stay, an out-patient visit, a home visit, via telemonitoring or telemedicine, alone or in combination. Apart from clinical evaluation, nocturnal oximetry and capnography monitoring and/or poly(somno)graphy (P(S)G) are usually carried out during the follow-up visits to monitor the delivered pressure, leaks, residual respiratory events and synchrony between the patient and the ventilator. Built-in software data of CPAP/NIV devices can be used to assess the adherence of treatment, to monitor pressure efficiency, leaks, asynchronies, and to estimate the presence of residual respiratory events under CPAP/NIV if P(S)G is not available or in alternance with P(S)G. The possibility of CPAP/NIV weaning should be assessed on a regular basis, but no criteria for the timing and procedures have been validated. Weaning timing depends on the clinical condition that justified CPAP/NIV initiation, spontaneous improvement with growth, and the possibility and efficacy of various upper airway, maxillofacial and/or neurosurgical procedures. Weaning may be allowed in case of the disappearance of nocturnal and daytime symptoms of sleep-disordered breathing (SDB) after several nights without CPAP/NIV and the objective correction of SDB on a P(S)G. But no parameters are defined. In any case, a long term follow-up is necessary to ascertain the weaning success. Large prospective studies, together with international and national guidelines, are required in order to build evidence for standardizing practice for the follow-up and weaning of CPAP/NIV in children., (Copyright © 2020 Khirani, Amaddeo, Griffon, Lanzeray, Teng and Fauroux.)

Sleep-disordered breathing (SDB) is associated with neurocognitive and behavioral dysfunction, and structural brain abnormalities. Near infrared spectroscopy allows a continuous and non-invasive monitoring of brain tissue oxygenation, giving insight in some pathophysiological mechanisms potentially associated with SDB-related neurocognitive dysfunction. The present review summarizes the finding of studies describing brain tissue oxygenation in adults and children with SDB. Contrary to adults, mean nocturnal tissue oxygenation index (TOI) during sleep does not seem to be different in children with SDB as compared to healthy controls. During respiratory events such as apnoeas and hypopnoeas, the decrease in TOI precedes the peripheral, systemic desaturation. The decrease in TOI has been shown to be greater during apnoeas as compared to hypopnoeas, during rapid-eye movement sleep as compared to other sleep stages, in younger children as compared to their older counterparts, and in those with a high apnoea-hypopnoea index as compared with a low apnoea-hypopnoea index. Studies analyzing the association between repetitive changes in TOI and neurocognitive and behavioral dysfunction may help to decipher the pathophysiology of neurocognitive dysfunction associated with SDB in children., (Copyright © 2019 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Study Objectives: Oronasal thermistor and nasal cannula are recommended for the scoring of respiratory events (RE) but these sensors are poorly tolerated in children. The aim of the study was to evaluate tracheal sounds (TS) and suprasternal pressure (SSP) for the scoring of RE during sleep in children., Methods: We compared the detection and characterization of RE by AASM-recommended sensors ("AASM" scoring), with the detection and characterization of RE by the combination of TS and SSP with respiratory inductance plethysmography-sum (TS-RIP scoring), and TS and SSP only (TS scoring)., Results: The recordings of 17 patients were analyzed. The TS, SSP, and RIP flow signals were present during 95%, 95%, and 99% of the validated recording time, respectively, as compared to 79% and 86% for nasal cannula and oronasal thermistor. A total of 1,456 RE were scored with the "AASM" scoring, 1,335 with the TS-RIP scoring, and 1,311 with the TS scoring. Sensitivity for apnea and hypopnea detection was 88% and 84% for the TS-RIP scoring, and 86% and 77% for the TS scoring. For apnea characterization, the TS-RIP scoring sensitivities and specificities were 97% and 100%, 76% and 98%, and 95% and 97%, for obstructive, mixed, and central apnea, respectively. For the TS scoring, they were 95% and 100%, 95% and 97%, and 91% and 97%, respectively., Conclusions: TS and SSP + RIP-sum has a good sensitivity and specificity for the detection and characterization of apnea and hypopnea in children. TS and SSP alone have good sensitivity and specificity for apnea detection and characterization but lower sensitivity for hypopnea detection., (© 2020 American Academy of Sleep Medicine.)

Upper airway obstruction is a common feature in pycnodysostosis and may cause obstructive sleep apnea (OSA). The aim of our study was to analyze sleep-disordered breathing and respiratory management in children with pycnodysostosis. A retrospective review of the clinical charts and sleep studies of 10 consecutive children (three girls and seven boys) with pycnodysostosis seen over a time period of 10 years was performed. Six patients had severe OSA and/or nocturnal hypoventilation and were started on continuous positive airway pressure (CPAP) as a first treatment at a median age of 3.4 ± 2.6 years, because of the lack of indication of any surgical treatment. Three patients could be weaned after several years from CPAP after spontaneous improvement (two patients) or multiple upper airway surgeries (one patient). Three patients had upper airway surgery prior to their first sleep study with two patients still needing CPAP during their follow-up. Only one patient never developed OSA. Patients with pycnodysostosis are at a high risk of severe OSA, underlying the importance of a systematic screening for sleep-disordered breathing. Multidisciplinary care is mandatory because of the multilevel airway obstruction. CPAP is very effective and well accepted for treating OSA., (© 2019 Wiley Periodicals, Inc.)

In spinal muscular atrophy (SMA), respiratory muscles are heterogeneously involved with a weakness of the intercostal muscles, possibly of the abdominal wall muscles, and a relatively spared diaphragm, resulting in cough impairment. An abnormal inspiratory cough phase pattern has been reported in SMA II and III. This short communication analyzed the esogastric pressures during voluntary cough in 49 SMA II and III patients. Four different patterns of coughing, reflecting an increasing degree of respiratory muscle weakness, were identified. The "mild weakness" profile was observed mainly in SMA III, while the "severe weakness" profile, which seems to correspond to the absence of abdominal muscle activity, was observed only in a few patients with SMA II. The cough profiles of 6 patients are presented together with their sniff and maximal static pressures measurements. Different esogastric pressure patterns were observed during these forceful maneuvers, suggesting variable involvement of the intercostal and abdominal muscles, and diaphragm during the evolution of SMA II and III., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Objectives: To evaluate changes in cerebral oxygenation by means of near-infrared spectroscopy during respiratory events in children with sleep-disordered breathing (SDB) and associated disorders., Study Design: Sixty-five children suspected of having SDB underwent a respiratory polygraphy with simultaneous recording of cerebral oxygenation indices. Respiratory events were analyzed by type of event, duration, variations of pulse oximetry (oxygen saturation [SpO 2 ]), cerebral tissue oxygenation index (TOI), and heart rate. Data were categorized according to the severity of SDB and age., Results: There were 540 obstructive and mixed apneas, 172 central apneas, and 393 obstructive hypopneas analyzed. The mean decreases in SpO 2 and TOI were 4.1 ± 3.1% and 3.4 ± 2.8%, respectively. The mean TOI decrease was significantly smaller for obstructive hypopnea compared with apneas. The TOI decrease was significantly less in children with mild SDB as compared with those with moderate-to-severe SDB and in children >7 years as compared with those <7 years old. TOI decreases correlated significantly with SpO 2 decreases, duration of event, and age, regardless of the type of event. In a multivariable regression model, predictive factors of TOI decreases were the type of respiratory event, SpO 2 decrease, apnea-hypopnea index, and age., Conclusions: In children with SDB and associated disorders, cerebral oxygenation variations depend on the type of respiratory event, severity of SDB, and age., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Objectives: Continuous positive airway pressure (CPAP) is an effective treatment of severe obstructive sleep apnea (OSA) but poor compliance is a major limitation. High-flow nasal cannula (HFNC) has been used as an alternative but data about efficacy and objective long-term compliance are scarce; this study aims to address this lack of data., Patients/methods: All consecutive patients, aged 0-18 years, treated with CPAP for a severe OSA defined as an apnea-hypopnea index (AHI) > 10 events/h, and not compliant with home CPAP therapy, defined by a CPAP use of <2 h/night, after at least four weeks from CPAP initiation were considered eligible for the study. HFNC was started during an outpatient visit. Study outcomes were the objective compliance (number of hours use/night) after one month and the improvement of OSA on a respiratory polygraphy (RP) with HFNC., Results: Eight patients (two boys, mean age 8.9 ± 6.2 years, mean AHI 33 ± 22 events/h) were included in the study: Down syndrome (N = 6), Pierre Robin syndrome (N = 1), Pfeiffer syndrome (N = 1). After one month, five (62%) patients slept with HFNC more than 4 h/night (mean compliance 7 h 10 min ± 0 h 36 min/night). HFNC corrected OSA in the five compliant patients (mean AHI 2 ± 2 events/h with HFNC). HFNC was not accepted by the three oldest patients with Down syndrome., Conclusion: A good compliance as well as a correction of OSA may be obtained with HFNC in selected children with OSA not compliant to CPAP. HFNC may be used as a rescue therapy for children not compliant with CPAP., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Mucolipidosis (ML) is a rare lysosomal storage disorder with a wide spectrum of disease severity according to the type. Sleep-disordered breathing is recognized as a characteristic feature of ML but objective data are scarce. The aim of the study was to describe sleep data and medical management in children with ML α/β. All patients with ML α/β followed at a national reference center of ML were included. Five patients had ML II, one patient had ML III and one patient had ML II-III. One patient was started on noninvasive ventilation (NIV) to allow extubation after prolonged invasive mechanical ventilation. The six other patients underwent sleep study at a median age of 1.8 years (range 4 months-17.4 years). Obstructive sleep apnea (OSA) was observed in all patients with a median apnea-hypopnea index (AHI) of 36 events/hr (range 5-52) requiring continuous positive airway pressure (CPAP) or NIV. CPAP/NIV resulted in an improvement of nocturnal gas exchange and was continued in all patients with an excellent compliance. Two patients died. Systematic sleep studies are recommended at time of diagnosis in ML. CPAP or NIV are effective treatments of OSA, well tolerated, and may contribute to improve the quality of life of patients and caregivers., (© 2019 Wiley Periodicals, Inc.)

Objective: To describe and compare the lung function decline in patients with Duchenne muscular dystrophy on glucocorticoid therapy in contrast with glucocorticoid-naïve patients, and to define the deciles of pulmonary decline in glucocorticoid-treated patients., Study Design: This retrospective study examined lung function of patients with Duchenne muscular dystrophy over 6 years of age followed between 2001 and 2015 at 2 centers-glucocorticoid-treated patients in Cincinnati, Ohio, and glucocorticoid-naïve patients in Paris, France. Forced vital capacity (FVC, FVC%), forced expiratory volume in 1 second, maximal inspiratory pressure, maximal expiratory pressure, and peak expiratory flow data were analyzed. Only FVC data were available for the French cohort., Results: There were 170 glucocorticoid-treated patients (92%), 5 patients (2.7%) with past glucocorticoid use, and 50 French glucocorticoid-naïve patients. The peak absolute FVC was higher and was achieved at earlier ages in glucocorticoid-treated compared with glucocorticoid-naïve patients (peak FVC, 2.4 ± 0.6 L vs 1.9 ± 0.7 L; P < .0001; ages 13.5 ± 3.0 years vs 14.3 ± 2.8 years; P = .03). The peak FVC% was also higher and was achieved at earlier ages in glucocorticoid-treated patients (peak FVC%, 105.1 ± 25.1% vs 56 ± 20.9%; P < .0001; ages 11.9 ± 2.9 years vs 13.6 ± 3.2 years; P = .002). Rates of decline for both groups varied with age. Maximal rates of decline were 5.0 ± 0.26% per year (12-20 years) for glucocorticoid-treated and 5.1 ± 0.39% per year for glucocorticoid-naïve patients (11-20 years; P = .2). Deciles of FVC% decline in glucocorticoid-treated patients show that patients experience accelerated decline at variable ages., Conclusions: These data describe nonlinear rates of decline of pulmonary function in patients with Duchenne muscular dystrophy, with improved function in glucocorticoid-treated patients. FVC% deciles may be a useful tool for clinical and research use., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Purpose: Co-sleeping is common in children with co-morbid conditions. The aim of the study was to analyze the prevalence and determinants of parent-child co-sleeping in children with co-morbid conditions and sleep-disordered breathing and the impact on parental sleep., Methods: Parents of consecutive children undergoing a sleep study filled in a questionnaire on co-sleeping., Results: The parents of 166 children (80 boys, median age 5.7 years (0.5-21) participated in this study. The most common co-morbid conditions of the children were Down syndrome (17%), achondroplasia (11%), and Chiari malformation (8%). The prevalence of parent-child co-sleeping was 46%. Reasons for co-sleeping were mainly reactive and included child's demand (39%), crying (19%), nightmares (13%), medical reason (34%), parental reassuring or comforting (27%), and/or over-crowding (21%). Sixty-eight percent of parents reported that co-sleeping improved their sleep quality because of reassurance/comforting (67%), reduced nocturnal awakening (23%), and child supervision (44%). Forty percent of parents reported that co-sleeping decreased their sleep quality because of nocturnal awakenings or early wake up, or difficulties initiating sleep (by 77% and 52% of parents, respectively), whereas both positive and negative associations were reported by 29% of the parents. Co-sleeping was more common with children < 2 years of age as compared to older children (p < 0.001)., Conclusions: Parent-child co-sleeping is common in children with co-morbid conditions and sleep-disordered breathing. Co-sleeping was mainly reactive and had both positive and negative associations with parental sleep quality. Co-sleeping should be discussed on an individual basis with the parents in order to improve the sleep quality of the family.

Introduction: Rett syndrome (RS) is a severe neurodevelopment disorder associated with abnormal breathing during wakefulness and disturbed nocturnal behaviour. Breathing abnormalities during daytime have been extensively reported but polysomnographic (PSG) findings have been poorly studied., Materials and Methods: Consecutive patients with RS carrying distinct mutations in MECP2 gene, who underwent a PSG between October 2014 and January 2018, were included in the study. Clinical and PSG data were collected., Results: Seventeen RS girls, mean age 9.5 ± 2.8 years, were included in the study. Mean total sleep time was 366 ± 102 min. Mean sleep efficiency was reduced (66 ± 19%) with only 3 girls presenting a sleep efficiency above 80%. Wake after sleep onset was increased (33 ± 20%) with an arousal index of 7 ± 6 events/hour. Sleep stages were altered with a normal N1 (2 ± 3%), a decreased N2 (34 ± 20%), an increase of N3 (51 ± 23%) and a decrease of REM sleep (12 ± 9%). Mean apnea hypopnea index (AHI) was increased at 19 ± 37 events/hour, with a predominance of obstructive events. Thirteen patients had an AHI > 1.5 event/hour. Four patients had an obstructive AHI >10 events/hour with one patient having associated tonsillar hypertrophy. Two patients had predominant severe central apneas (central AHI 53 and 132 events/hour) which resolved with noninvasive ventilation and nocturnal oxygen therapy respectively., Conclusion: Girls with RS have poor sleep quality with alterations in slow wave and REM sleep stages. Obstructive respiratory events are uncommon in patients without adenotonsillar hypertrophy. Central respiratory events are rare. Longitudinal studies should help understanding the natural history of sleep disturbances in RS and their relationship with the neurocognitive decline., (Copyright © 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Objective: Only a few studies have addressed strategies to improve continuous positive airway pressure (CPAP) adherence in children with obstructive sleep apnea. The aim of our study was to assess the efficacy of a table based on token economy to improve CPAP adherence., Methods: A table was proposed to children nonadherent to CPAP (<3 h per night of CPAP use), eight days after CPAP initiation (D8). The child has to fill the table on a daily basis with green (I used my CPAP this night) or red (I did not use my CPAP) tokens. Objectives of CPAP use and rewards were decided between the child and their parents. An assessment of CPAP adherence was performed one month after initiation of table filling (M1) and compared to CPAP adherence at D8, and to data of adherent children., Results: Data of six nonadherent and nine adherent children were gathered (age 5 ± 5 vs. 5 ± 3 years, p = 0.953; apnea-hypopnea index 20 ± 15 vs. 25 ± 16 events/h, p = 0.550, respectively). Mean CPAP adherence at D8 was 4.7 ± 1.6 nights/wk and 1h00 ± 0h33 in the nonadherent children, vs. 6.9 ± 0.4 nights/wk and 7h16 ± 1h51 in the adherent group (p < 0.01). The mean number of nights per week at M1 was 6.4 ± 0.6 nights in nonadherent children (p = 0.086), and was equivalent to that in adherent children (6.8 ± 0.6 nights, p = 0.126). Mean adherence at M1 increased to 4h31 ± 1h12 in non-adherent children (p < 0.001), but was still lower when compared to that in adherent children (7h27 ± 2h00, p = 0.007)., Conclusion: The study findings imply that use of a simple table by a child appears to be effective in improving CPAP adherence at one month., (Copyright © 2018. Published by Elsevier B.V.)

Respiratory problems are common in Morquio-A syndrome (MPS IVA) but objective data on sleep-disordered breathing are scarce. The aim of our study was to review polygraphic (PG) findings and the need for noninvasive continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in children with MPS IVA. A retrospective review of the clinical charts and PG of 16 consecutive children (7 boys, mean age 10.5 ± 4.2 years) with MPS IVA seen over a period of 3 years was performed. The prevalence of obstructive sleep apnea (OSA) was 69% with only five patients, all younger than 10 years old, having a normal PG. Four patients had mild OSA (apnea-hypopnea index [AHI] ≥1.5 and <5 events/hr), three patients had moderate OSA (AHI ≥5 and <10 events/hr), and three patients had severe OSA (AHI ≥ 10 events/hr). Among the 10 patients with OSA, 3 had prior adenoidectomy ± tonsillectomy and 6 were on enzyme replacement therapy. Only one patient had a central apnea index >5 events/hr despite prior cervico-occipital decompression. Six patients, all older than 11 years old, were started on CPAP or NIV because of severe OSA (n = 4), nocturnal hypoventilation (n = 1), or impossibility to be weaned from NIV after an acute respiratory failure (n = 1). Prevalence of OSA is high in patients with MPS IVA, underlying the importance of a systematic screening for sleep-disordered breathing. CPAP and NIV are efficient and well accepted for treating sleep-disordered breathing., (© 2018 Wiley Periodicals, Inc.)

Introduction: Current guidelines recommend initiating continuous positive airway pressure (CPAP) in children during an overnight in-hospital titration study. Due to a shortage of hospital beds and economic constraints, we started a program for outpatient initiation of CPAP in selected children with obstructive sleep apnea (OSA)., Methods: Objective CPAP compliance and efficacy were evaluated in consecutive children enrolled in an outpatient CPAP program when they fulfilled the following criteria: persistent OSA, age >6 months, stable condition, family living in the Parisian area and agreeing with a regular follow-up., Results: Thirty-one children, median (range) age 8.9 years (0.8-17.5), were included in the program. The most common diagnosis were Down syndrome (n = 7), achondroplasia (n = 3), and obesity (n = 3). Median baseline obstructive apnea-hypopnea index (OAHI) was 12.5 events/h (5-100). Median duration of follow-up was 12.3 months (2.2-25.2). Four subjects (three adolescents with Down syndrome) were not compliant at 2-month follow-up with a compliance <4 h/night. In the other 27 subjects, median compliance was 08:21 h:min/night (05:45-12:20), with a median number of night use per month of 25 (18-30). CPAP efficacy at the end of follow-up was excellent in the compliant subjects with a median AHI of two events/h (0-4) and normal gas exchange with CPAP therapy. Three subjects were successfully weaned from CPAP treatment during the study period., Conclusion: Initiating CPAP in an outpatient setting in children is feasible and effective in selected subjects. A high rate of compliance can be achieved as well as a correction of OSA., (© 2018 Wiley Periodicals, Inc.)

Congenital muscular dystrophies and congenital myopathies represent a heterogeneous group of disorders of the muscle characterized by an early onset of hypotonia and muscle weakness and consequently, a high respiratory morbidity and mortality. The diagnosis and characterization of the weakness of the respiratory muscles is crucial for clinical management of patients and the evaluation of innovative therapies. Routine respiratory evaluation is based on noninvasive volitional tests, such as the measurement of lung volumes, spirometry, and maximal static pressures, which may be difficult or impossible to obtain in young children. Tests using natural maneuvers such as a sniff, a cough or a whistle, are easier to perform and may be more informative in young children. The combination of multiple tests of respiratory muscle function is essential and both increases diagnosis accuracy and the strength of the data in case of clinical trials assessing new therapies for these diseases., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Aim: We evaluated the impact that having a child with sleep-disordered breathing had on their parents, including their own sleep quality., Methods: Questionnaires were completed by 96 parents of 86 children referred for a sleep study or control of continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) at the sleep laboratory of the Necker Hospital, Paris, France, between October 2015 and January 2016. The questionnaires evaluated anxiety and depression, family functioning, the parents' quality of life, daytime sleepiness and sleep quality., Results: The children had a mean age of seven ±five years and most of the responses (79%) came from their mothers. These showed that 26% of parents showed moderate-to-severe anxiety, 8% moderate-to-severe depression, 6% complex family cohesion, 59% moderate-to-severe daytime sleepiness and 54% poor sleep quality. Anxiety was higher in mothers than in fathers (p < 0.001). The questionnaire scores did not differ according to the child's age, the results of the sleep studies or the CPAP or NIV treatment. The symptoms seem to be more commonly related to the child's underlying disease than their sleep-disordered breathing., Conclusion: The parents of children referred to a sleep laboratory reported frequent anxiety, daytime sleepiness and poor sleep quality., (©2018 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)

Purpose: The characterization of apneas during polysomnography (PSG) as obstructive or central is a key element of a sleep study. Pulse transit time (PTT) has demonstrated its potential as a noninvasive surrogate marker for inspiratory efforts. The aim of the study was to assess the ability of PTT to classify apneas as central or obstructive, as compared to respiratory inductance plethysmography (RIP) in children., Methods: Overnight PSG with simultaneous PTT recording was performed on 11 consecutive children (mean age 8.9 years, range 1-18.2 years). The same observer scored the apneas using two blinded configurations: (1) the RIP scoring used the nasal pressure, thermistors, thoracic and abdominal movements, and pulse oximetry signals: (2) the PTT scoring used PTT in combination with all the other signals without the thoracic and abdominal movements., Results: One hundred fourteen apneas out of a total of 520 respiratory events were analyzed. With RIP, 58 (51%) apneas were scored as obstructive and 56 (49%) as central. Using PTT, 77 (68%) of the apneas were scored as obstructive and 37 (32%) as central. When using PTT, 30 apneas scored as central by RIP were scored as obstructive. PTT was highly sensitive (81%) but poorly specific (46%) in scoring 58 apneas as obstructive. PTT was less sensitive (46%) but highly specific (81%) to score 56 apneas as central., Conclusion: PTT may be used as an additional tool to RIP to improve the scoring of apneas as obstructive or central in children. The high percentage of artifact is a limitation of PTT.

Objectives: Few studies have evaluated long-term diaphragmatic function in congenital diaphragmatic hernia (CDH). The aim of our cross-sectional study was to assess diaphragmatic function in infants and young children with CDH after surgical repair., Methods: All the patients with CDH repair followed in our centre between February 2014 and January 2016 were enrolled. Patients with a postnatal diagnosis after 1 month of life were excluded. Breathing pattern and diaphragmatic function were assessed using esophageal and gastric (Pgas) pressure recording after surgery, or at 1 or 5 years of age., Results: Twenty-eight patients (24 left-sided CDH, 6 with diaphragmatic patch) were included. Twelve patients were assessed before hospital discharge (Y0), 6 around the age of 1 year (Y1) and 10 around the age of 5 years (Y5). Mean antenatal estimated pulmonary volume (VLA) was 42 ± 10% (n = 23). Diaphragmatic strength, assessed by transdiaphragmatic pressure during crying/sniff, was low at Y0 (47 ± 18 cmH2O, n = 12) and within normality at Y5 (81 ± 15 cmH2O, n = 7). Diaphragmatic dysfunction, assessed by Pgas during crying/sniff, was present at Y0 (-58 ± 22 cmH2O, n = 12) and Y1 (-53 ± 36 cmH2O, n = 5) and still present at Y5 (3 ± 9 cmH2O, n = 7) but to a lesser extent. The diaphragmatic tension time index (TTdi), which estimates diaphragmatic endurance, was high at Y0 (0.10 ± 0.04, n = 11) and within normality at Y5 (0.03 ± 0.01, n = 6). VLA correlated with neonatal TTdi (r = -0.961, P < 0.001)., Conclusions: Infants with CDH have diaphragmatic dysfunction in the neonatal period, which correlates with VLa and normalizes with age. Future longitudinal studies should assess the role of CDH side, size of diaphragmatic defect and patch repair.

Near infrared spectroscopy (NIRS) has been used to assess the impact of obstructive sleep apnea-hypopnea syndrome (OSAHS) on cerebral oxygenation. However, the relationship between the variations in the cerebral tissue oxygen saturation (ΔTOI) and pulse oximetry (ΔSpO 2 ) has not been assessed in children with OSAHS. Consecutive clinically stable children with severe OSAHS [apnea-hypopnea index (AHI) >15 events h -1 ] diagnosed during a night-time polygraphy with simultaneous recording of cerebral oxygenation with NIRS (NIRO-200NX, Hamamatsu Photonics KK) were included between September 2015 and June 2016. Maximal ΔSpO 2 (SpO 2 drop from the value preceding desaturation to nadir) and concomitant variations in transcutaneous carbon dioxide (ΔPtcCO 2 ), maximal ΔTOI and maximal variations in cerebral oxygenated (O 2 Hb) and deoxygenated (HHb) haemoglobin were reported. The relationships between ΔSpO 2 , ΔPtcCO 2 and ΔTOI, ΔO 2 Hb and ΔHHb were investigated. The data from five children (three boys, aged 9.6 ± 6.7 years, AHI 16-91 events h -1 ) were analysed. Strong correlations were found between ΔSpO 2 and ΔTOI (r = 0.887, P < 0.001), but also with ΔO 2 Hb and ΔHHb with a particular pattern in the youngest child with a dark skin pigmentation. Mean ΔSpO 2 was 20 ± 17% and mean ΔTOI was 8 ± 7%. Maximal ΔSpO 2 of approximately 70% were coupled with ΔTOI of no more than 35%. ΔPtcCO 2 correlated only weakly with the cerebral oxygenation indexes. This pilot study shows a strong relationship between pulse oximetry and cerebral oxygenation in children with OSAHS, with lower changes in TOI compared to SpO 2 . Future studies should address the clinical impact of respiratory events on cerebral oxygenation and its consequences., (© 2017 European Sleep Research Society.)

Background and Objectives: Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained event (BRUE) and sleep-disordered breathing. The aim of the study was to explore sleep in infants with CMS with a particular focus on heart rate (HR) variability., Methods: Overnight polygraphy was performed and HR variations associated with respiratory events were analysed. Bradycardia and tachycardia were defined as a variation of HR of ±10 bpm from baseline and analysed as events/hour., Results: The data of 5 infants with CMS were analysed. Two patients had known mutations (COLQ and RAPSN). One patient had a tracheostomy. The apnoea-hypopnoea index (AHI) was abnormal in all the patients (range 2.8-47.7 events/h), with the highest AHI being observed in the 3 youngest infants. Nocturnal transcutaneous gas exchange was normal in all patients except the tracheostomised patient. Mean HR was 114 ± 23 bpm with a mean HR index of 4.5 ± 4.3 events/h. The amplitudes of HR variations (bradycardia or tachycardia) were around 15-20 bpm, regardless of the type of respiratory event, and comparable between patients. No correlations were found between HR indexes or variations and the type and mean duration of respiratory events. Ventilatory support was initiated in 3 infants immediately after the sleep study because of a high AHI and/or nocturnal hypoventilation., Conclusions: All 5 infants had an abnormal AHI with younger infants having the highest AHI. Three infants required ventilatory support after the polygraphy, underlining its clinical usefulness. No significant abnormalities of HR were observed during the sleep studies., (Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Objectives: A significant number of children are able to discontinue long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) but the underlying disorders, weaning criteria, and outcome of these children have not been studied., Study Design: Retrospective cohort follow up., Subject Selection: Consecutive children who were weaned from long term CPAP/NIV between October 2013 and January 2016., Methodology: Underlying disorders, weaning criteria, and clinical outcome were analyzed., Results: Fifty eight (27%) of the 213 patients on long term CPAP/NIV could be weaned from CPAP/NIV with 50 patients being weaned from CPAP and 8 from NIV. Most patients were young children with upper airway anomalies, Prader Willi syndrome or bronchopulmonary dysplasia. CPAP/NIV was discontinued following spontaneous improvement of sleep-disordered breathing in 33 (57%) patients, upper airway surgery (n = 14, 24%), maxillofacial surgery (n = 6, 11%), neurosurgery (n = 1, 2%), upper airway and neurosurgery (n = 2, 3%), or switch to oxygen therapy (n = 2, 3%). CPAP/NIV was discontinued due to normal nocturnal gas exchange during spontaneous breathing in all patients, with an obstructive apnea-hypopnea index ≤6 events/h on a combined poly(somno)graphy in 27 patients. A relapse of obstructive sleep apnea was observed after a median delay of 2 years in six patients who resumed CPAP and in one patient who underwent midface distraction., Conclusions: Weaning from CPAP/NIV is possible in children treated with long term CPAP/NIV but is highly dependent on the underlying disorder. Spontaneous improvement is possible but most children need specific surgery. Long term follow-up is necessary in children with underlying disorders., (© 2017 Wiley Periodicals, Inc.)

Objective: Noninvasive ventilation (NIV) in usually set on clinical parameters. The aim of the study was to assess the value of esophageal (P ES ) and gastric pressure (P GAS ) measurements for the indication and optimal settings of NIV in infants with hypercapnic respiratory failure in whom the efficacy of NIV was uncertain on clinical noninvasive parameters., Design: A retrospective study., Patient-Subject Selection: P ES and P GAS measurements were performed in seven infants <2 years old admitted in the Pediatric Intensive Care Unit for an acute or acute-on-chronic hypercapnic respiratory failure., Methodology: P ES swing and esophageal pressure time product (PTP ES ) during spontaneous breathing, NIV set on clinical parameters (NIVclin) and on P ES (NIVphys) were compared. According to the P ES measurements, NIV was continued if NIV was associated with an at least 20% reduction of the P ES swing and PTP ES and not initiated or withdrawn in the other case., Results: In all seven patients, the P ES and P GAS measurements were informative and led to the decision to initiate NIV in one patient or continue NIV with different settings in three patients. In the three other patients, NIV was not initiated in one patient and withdrawn in the two last patients because of a lack of improvement in P ES swing and PTP ES ., Conclusions: P ES and P GAS measurements may be useful for the indication and optimal setting of NIV in a selected group of infants with hypercapnic respiratory failure., (© 2017 Wiley Periodicals, Inc.)

Objectives: Polysomnography (PSG) is the gold standard for the scoring of residual respiratory events during continuous positive airway pressure (CPAP). Studies comparing PSG scoring with automatic scoring by the built-in software of CPAP devices have reported acceptable agreements except for the hypopnea index (HI) in adult patients, but no study has yet been conducted in children. The aim of the present study was to compare the automatic scoring by CPAP device and manual scoring using the software tracings of the CPAP device integrating pulse oximetry (SpO 2 ) with in-lab polygraphy (PG)., Methods: Consecutive clinically stable children treated with constant CPAP (ResMed) for at least one month and scheduled for a nocturnal PG were recruited. A pulse oximeter was connected to the CPAP device. The PG apnea-hypopnea index (AHI PG ), scored according to modified AASM guidelines, was compared with the automatic AHI reported by the CPAP device (AHI A CPAP ) and the manual scoring of the AHI on the CPAP software (AHI M CPAP )., Results: Fifteen children (1.5-18.6 years) were included. Mean residual AHI PG was 0.9 ± 1.2/hour (0.0-4.6/hour) vs. AHI A CPAP of 3.6 ± 3.6/hour (0.5-14.7/hour) (p < 0.001), and AHI M CPAP of 1.2 ± 1.6/hour (0.0-5.1/hour) (p = 0.01). Correlation between AHI PG and AHI A CPAP was good (r = 0.667; p = 0.007), and improved when considering AHI M CPAP (r = 0.933; p < 0.001). Strong correlations were also observed between the PG apnea index (AI) and HI, and the manually scored AI and HI on CPAP, respectively., Conclusions: Manual scoring of respiratory events on the built-in software tracings of CPAP devices integrating SpO 2 signal may be helpful. These results have to be confirmed in patients with higher AHI., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Background: Oral salbutamol has shown clinical benefits in spinal muscular atrophy (SMA). We studied its effect on the respiratory muscle strength in children with different types of SMA., Methods: Lung and respiratory muscle functions were assessed in children receiving daily oral salbutamol for at least one year. The respiratory data of age-matched SMA II historical control subjects were compared with data of SMA II patients receiving salbutamol., Results: Seven children (6.4 ± 2.0 years old, range four to ten; one SMA I, five SMA II, and one SMA III) treated with salbutamol (duration 23 ± 8 months) were assessed. Maximal static inspiratory pressure, sniff nasal inspiratory pressure, and slow vital capacity were significantly better in the salbutamol-treated SMA II group compared with control subjects (P < 0.05)., Conclusions: Long-term oral salbutamol showed benefits in respiratory function in children with SMA and appeared to increase the strength of the inspiratory muscles in a small cohort of SMA II patients., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Children with Down syndrome are at increased risk of obstructive sleep apnea (OSA). The aim of the study was to describe the management of OSA in a large cohort of children with Down syndrome. A retrospective analysis of sleep studies and consequent management was performed for all consecutive Down syndrome patients evaluated between September 2013 and April 2016. The data of 57 patients were analyzed: 51/53 had an interpretable overnight polygraphy and 4 the recording of nocturnal gas exchange. Mean age at baseline sleep study was 6.2 ± 5.9 years. Eighteen patients (32%) had prior upper airway surgery. Mean apnea-hypopnea index (AHI) was 14 ± 16 events/hr with 41 of the 51 (80%) patients having OSA with an AHI >1 event/hr and 20 patients (39%) having an AHI ≥10 events/hr. Consequently, eight patients (14%) had upper airway surgery. OSA improved in all patients except two who needed noninvasive respiratory support. Nineteen (33%) patients required noninvasive respiratory support. Mean age at noninvasive respiratory support initiation was 7 ± 7 years. On 11 patients with objective adherence data available, mean compliance at 2 ± 1 years of treatment was excellent with an average use per night of 8 hr46 ± 3 hr59 and 9 patients using the noninvasive respiratory support >4 hr/night. Noninvasive respiratory support was associated with an improvement of nocturnal gas exchange. The prevalence of OSA is high in Down syndrome. Upper airway surgery is not always able to correct OSA. Noninvasive respiratory support represents then an effective treatment for OSA and good compliance may be achieved in a majority of patients., (© 2017 Wiley Periodicals, Inc.)

SEPN1-related myopathy (SEPN1-RM) is characterized by predominant axial muscle weakness, early scoliosis, rigid spine and severe respiratory insufficiency. The aim of the study was to characterize the mechanisms of respiratory dysfunction in SEPN1-RM patients. Breathing pattern and respiratory muscle strength were measured by means of esophageal (Pes) and gastric (Pgas) pressures. Seven patients aged 7-55 years (1 adult) at first respiratory muscle test were studied. Five patients were treated by nocturnal noninvasive ventilation (NIV)  ≥ 4 months. Mean ΔPes was within normality during tidal breathing, but the ΔPgas/ΔPes index indicated an increased contribution of the rib cage and expiratory muscles, as compared to the diaphragm, in the pediatric patients and bilateral diaphragmatic paralysis in the adult patient. Forced vital capacity (FVC) was reduced in all patients (52 ± 19%pr) with mean FVC seated-supine drop of 24 ± 7%. Global inspiratory muscle and diaphragmatic strengths were moderately reduced in 2 patients, highly reduced in 4 patients and severely reduced in the adult patient. Expiratory muscle strength was moderately reduced in 6 patients and severely reduced in the adult patient. FVC and respiratory muscle strength remained stable in 2 patients treated by nocturnal NIV within a 3-year follow-up. This study confirms that diaphragmatic dysfunction is a characteristic feature of SEPN1-RM and NIV may stabilize the decline in respiratory muscle strength., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Objectives: The accuracy of respiratory polygraphy (RP) is limited because of the absence of electroencephalography (EEG). Pulse wave amplitude (PWA) reduction has been shown to be a marker of autonomic activation during arousal, and may represent a substitute for obstructive respiratory-related cortical arousal (RRCA). This study tested the hypothesis that PWA could be a surrogate for RRCA in detecting obstructive hypopnea (OH) in a pediatric population., Materials and Methods: Two experienced readers scored 30 consecutive polysomnographies (PSG) using standard scoring rules. Automatic software detected every 20-90% reduction in PWA. A second scoring of respiratory events using PWA reduction as a surrogate for RRCA was performed (RP with PWA) for each percentage of PWA reduction. The final analysis consisted of determining the concordance between the two methods of detecting OH., Results: A total of 987 episodes of ≥30% flow reduction were analyzed: 330 with RRCA only, 205 with desaturation (DS) only, 134 with both, and 318 without RRCA or DS. As the percentage of reduction in PWA increased, the sensitivity of PWA as a substitute for RRCA decreased, but the specificity increased. For a decrease in PWA of 60% or 70%, the sensitivities of PWA as a substitute for RRCA were 79% and 57%, and the specificities 51% and 76%, respectively., Conclusion: Pulse wave amplitude reduction lacks sensitivity and specificity to be used as a surrogate for RRCA to detect OH in children. Polysomnography remains the gold standard for the diagnosis of sleep disordered breathing in children., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Sleep-disordered breathing is a common feature in children with achondroplasia. The aim of our study was to review the poly(somno)graphic (P(S)G) findings and consequent treatments in children with achondroplasia followed in the national reference center for skeletal dysplasia. A retrospective review of the clinical charts and P(S)G of 43 consecutive children (mean age 3.9 ± 3.5 years) with achondroplasia seen over a period of 2 years was performed. Twenty four (59%) children had obstructive sleep apnea (OSA). Thirteen children had an obstructive apnea-hypopnea index (OAHI) < 5/hr, four had an OAHI between 5 and 10/hr, and seven had an OAHI ≥ 10/hr. Ten of the 15 children who had previous upper airway surgery still had an abnormal P(S)G. All the patients with an AHI ≥ 10/hr were under 7 years of age and none had a prior tonsillectomy. The children who underwent adeno-tonsillectomy, coupled in most cases with turbinectomy, were significantly older (mean age 7.5 ± 3.5 vs. 3.5 ± 1.7 years old, P = 0.015) and had significantly better P(S)G results than those who underwent only adeno-turbinectomy. No correlation was observed between the mean AHI value at the baseline P(S)G and the type of academic course (standard, supported or specialized). In conclusion, OSA is common in children with achondroplasia. The observation of a reduced prevalence of OSA after (adeno-)tonsillectomy is in favor of this type of surgery when possible., (© 2017 Wiley Periodicals, Inc.)

Study Objectives: The recognition and characterization of respiratory events is crucial when interpreting sleep studies. The aim of the study was to validate the PneaVoX sensor, which integrates the recording of respiratory effort by means of suprasternal pressure (SSP), respiratory flow, and snoring for the classification of sleep apneas in children., Methods: Sleep recordings of 20 children with a median age of 7.5 (0.5-16.5) years were analyzed. Scoring of apneas according to the American Academy of Sleep Medicine (AASM) guidelines using nasal pressure, oronasal thermal sensor and respiratory efforts by means of respiratory inductance plethysmography (RIP), was compared to a scoring using the PneaVoX sensor and nasal pressure, without the oronasal thermal sensor nor RIP, during a dual blind study., Results: The percentage of sleep time recording without artifacts was 97%, 97%, 87%, 65%, and 98% for the respiratory flow and SSP from the PneaVoX sensor, oronasal thermal sensor, nasal pressure, and RIP, respectively. As compared to the AASM scoring with RIP, sensitivity and specificity of the SSP for the scoring of central apneas were 75% and 99% for the first reader, and 70% and 100% for the second reader, respectively. Sensitivity and specificity for the scoring of obstructive apneas were 98% and 75%, and 100% and 70%, respectively. A significant number of apneas scored as central by RIP were scored as obstructive by the SSP., Conclusions: The PneaVoX sensor has a high degree of scorability in children. The PneaVoX sensor is a useful adjunct for characterizing apneas., (© 2016 American Academy of Sleep Medicine)

Polysomnography (PSG) is the gold standard for the analysis of sleep architecture but is not always available in routine practice, as it is time consuming and cumbersome for patients. Bispectral index (BIS), developed to quantify the deepness of general anesthesia, may be used as a simplified tool to evaluate natural sleep depth. We objectively recorded sleep architecture in young patients using the latest BIS Vista monitor and correlated BIS values with PSG sleep stages in order to determine BIS thresholds. Patients, referred for the screening of sleep apnea/hypopnea syndrome or differential diagnosis of hypersomnia were recruited. Overnight PSG and BIS were performed simultaneously. BIS values were averaged for each sleep stage. Pre-sleep wakefulness (W) and wake after sleep onset (WASO) were also differentiated. BIS values were discarded for a signal quality index <90 %. ROC curves were plotted to discriminate sleep stages from each other. Twelve patients (5.7-29.3 years old) were included. Mean BIS values were 83 ± 8, 76 ± 12, 77 ± 11, 70 ± 10, 43 ± 10, and 75 ± 10 for W, WASO, N1, N2, N3 and R (REM) stages, respectively. BIS failed to distinguish W, WASO, N1 and R stages. BIS threshold that identified stage N2 was <73 (AUC = 0.784, p < 0.001) with low sensitivity (75 %) and poor specificity (64 %). BIS threshold that identified stage N3 was <55 (AUC = 0.964, p < 0.001) with an 87 %-sensitivity and a 93 %-specificity. BIS identified stage N3 with satisfactory sensitivity and specificity but is limited by its inability to distinguish REM sleep from wake. Further studies combining BIS with chin electromyogram and/or electrooculogram could be of interest.

Background and Aims: Even though numerous ventilators are licensed for a use in children, very few have been specifically developed for this age range. Therefore, home ventilators may not be able to adequately synchronize with the child's respiratory effort, and the inspiratory triggers (ITs) of assist modes are not always appropriate for children. The aim of the study was to test the improvement of the IT of a ventilator on a pediatric bench and in pediatric patients., Methods: A classical IT (ITc) and an improved IT [non-invasive ventilation (NIV) + IT] were tested on a bench with six pediatric profiles and in six young patients (mean age 14.1 ± 2.7 years old) requiring long-term NIV., Results: On the bench, trigger time delays (ΔT) and trigger pressures (ΔP) were reduced with the NIV + IT as compared with the ITc (ΔT: 0.481 ± 0.332 vs 0.079 ± 0.022 s for ITc and NIV + IT, respectively, P = 0.027; ΔP: -1.40 ± 0.70 vs -0.42 ± 0.28 cmH2 O for ITc and NIV + IT, respectively, P = 0.046). The clinical study confirmed the decrease in ΔT (0.267 ± 0.061 vs 0.178 ± 0.074 s for ITc and NIV + IT, respectively, P = 0.024) and ΔP (-0.68 ± 0.26 vs -0.39 ± 0.11 cmH2 O for ITc and NIV + IT, respectively, P = 0.030)., Conclusions: The sensitivity of the IT of a ventilator can be improved for pediatric use. The improvements observed on the bench study were confirmed in pediatric patients., (© 2014 John Wiley & Sons Ltd.)

Rationale: Expiratory muscle strength is a determinant of cough function. Maximal static expiratory pressure (PEmax) manoeuvres are widely used but are limited by patient motivation and technique. The study hypothesized that whistle mouth (PmW) and cough gastric (PgasCough) pressures might provide additional tests of expiratory muscle strength in children and young adults with neuromuscular disease (NMD)., Methods: We retrospectively reviewed the data of lung function and respiratory muscle tests of all the patients with NMD followed in our centre between November 2001 and December 2013. PmW and PgasCough were compared to other common tests., Results: Three hundred and four respiratory evaluations were performed in 143 patients, aged 3-29 years old. Seventy-two patients had 2 to 8 evaluations. Median [interquartiles] PEmax (38 [28-54] cmH2O) did not differ significantly from PgasCough (45 [30-60] cmH2O) and both were significantly greater than PmW (30 [19-44] cmH2O). Significant good correlations were observed between all the expiratory muscle parameters. The best correlation was observed between PEmax and PmW (r = 0.812, p < 0.001). Moreover, good correlations were found between the percentage of predicted forced vital capacity and PmW (r = 0.619, p < 0.001) and PgasCough (r = 0.568, p < 0.001). Concerning the whistle test, the non-invasive measurement highly correlated with invasive measurements., Conclusions: PmW and PgasCough are simple and valuable tests to assess expiratory muscle strength in children and young adults with NMD. These tests are particularly useful in children having difficulties to perform PEmax manoeuvre. They have the great advantage of their simplicity, but PgasCough is limited by its invasiveness., (Copyright © 2016 Elsevier Ltd. All rights reserved.)