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Background: Gene replacement therapy (onasemnogene abeparvovec) is associated with an improvement of the prognosis of children with spinal muscular atrophy, but information on long-term respiratory outcome is scarce. The aim of this study was to report the polysomnography findings and respiratory muscle function of infants with treatment-naive spinal muscular atrophy type 1 and 2 up to 24 months after onasemnogene abeparvovec monotherapy., Methods: A clinical and motor evaluation, respiratory muscle function testing, and polysomnography were performed repeatedly., Results: Fifteen spinal muscular atrophy patients (1 presymptomatic, 7 type 1b, 6 type 1c, and 1 type 2) were included at a median age of 8.6 months (range 3.8-12.6) and followed for 24 months. The thoracic over head circumference ratio was close to normal at baseline (median 1.00 (range 0.90-1.05)) and increased significantly over time. All polysomnography and nocturnal gas exchange parameters were within normal ranges at baseline (median apnea-hypopnea index 2.5 events/hour (range 0.4-5.3)) and follow-up. The inspiratory muscle strength was normal at baseline but tended to slightly decrease over time and the expiratory muscle strength was low at any time especially for patients with recurrent respiratory infections (median (range) at baseline in cmH 2 O: crying esophageal pressure 54 (30-110), crying transdiaphragmatic pressure 65 (35-107), gastric pressure during maximal cough 26 (10-130), esophageal pressure during maximal cough 61 (38-150)). Only 3 patients required noninvasive ventilation., Conclusion: A continuous respiratory monitoring of spinal muscular atrophy patients during the first years of life following onasemnogene abeparvovec monotherapy seems recommended despite the normality of polysomnography parameters., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

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.)

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.)

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.)

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.)

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.)

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.)

Objective: Data are scarce on respiratory events during sleep for children treated at home with continuous positive airway pressure (CPAP). The present study aimed to characterize the respiratory events with CPAP during sleep and to analyze their clinical consequences., Patients/methods: Consecutive polygraphies (PG) performed on stable children treated with CPAP were analyzed and scored using SomnoNIV Group definitions. For every respiratory event, the presence of a 3% oxygen desaturation and/or an autonomic arousal was systematically searched. Nocturnal gas exchange was assessed using summary data of oximetry and transcutaneous carbon dioxide pressure recordings., Results: Twenty-nine consecutive polygraphies, performed on 26 children (mean age 7.8 ± 6.2 years, mean CPAP use 10.6 ± 14.4 months), were analyzed. The index of total respiratory events was low (median value 1.4/h, range 0-34). The mean number of different types of respiratory events per PG was 2 ± 1 (range 0-4), with always a predominant event. Partial or total upper airway obstruction without a decrease in ventilatory drive was the most frequent event and was the most frequently associated with an oxygen desaturation (in 30% of the events) and an autonomic arousal (in 55% of the events). Weak correlations were observed between nocturnal oximetry and PG results., Conclusions: The index of respiratory events during CPAP treatment for stable children is low. As these events may be associated with an oxygen desaturation or an autonomic arousal, and as nocturnal gas exchange cannot predict PG results, a systematic sleep study seems justified for the routine follow-up of children treated with CPAP., (Copyright © 2014 Elsevier B.V. All rights reserved.)

Background: Adherence to continuous positive airway pressure (CPAP) and noninvasive ventilation (NIV) is crucial for the successful treatment of sleep-disordered breathing. The aim of our study was to analyze the adherence of children to long-term home CPAP/NIV treatment., Methods: We analyzed data from all consecutive patients older than the age of 2years, in whom CPAP/NIV treatment was initiated in a specialized pediatric NIV and in those who were receiving CPAP/NIV treatment at home for at least 1month. Data of the memory cards of the ventilators and nocturnal gas exchange were analyzed during a routine CPAP/NIV overnight control in the hospital. CPAP/NIV adherence during the previous month was analyzed according to patient's age, ventilatory mode, type of interface, nocturnal gas exchange, and duration of treatment., Results: The data of 62 children (mean age, 10±5years) with obstructive sleep apnea (n=51) treated with CPAP and neuromuscular disease (n=6) or lung diseases (n=5) treated with NIV were analyzed. Mean adherence was 8:17±2:30h:min per night, and the results did not significantly differ between CPAP and NIV adherence. Seventy-two percent of the patients used their device >8h per night. The mean number of nights of CPAP/NIV use during the last month was 26±5 nights per month. Treatment adherence was not correlated to age, the type of underlying disease, the type of interface (nasal, facial mask, or nasal cannula), nocturnal gas exchange, and duration of CPAP/NIV treatment., Conclusion: Long-term CPAP/NIV adherence at home was extremely high in this group of children followed in a pediatric NIV unit. This finding may explain the lack of effect of the interface, nocturnal gas exchange, and duration of CPAP/NIV treatment., (Copyright © 2013 Elsevier B.V. All rights reserved.)