Non-invasive respiratory support in children and young adults with complex medical conditions in pediatric palliative care.

OBJECTIVE: Dyspnoea and sleep-disordered breathing (SDB) are common in children with life-limiting conditions but studies on treatment with non-invasive ventilation (NIV) or continuous positive airway pressure (CPAP) are scarce. The aim of the study was to describe children treated with long-term NIV/CPAP within a paediatric palliative care programme in France. METHODS: Cross-sectional survey on children and young adults with complex medical conditions treated within the French paediatric NIV network with long-term NIV/CPAP. Characteristics of the patients were analysed and patient-related outcome measures of NIV/CPAP benefit were reported. RESULTS: The data of 50 patients (68% boys), median age 12 (0.4-21) years were analysed. Twenty-three (46%) patients had a disorder of the central nervous system and 5 (10%) a chromosomal anomaly. Thirty-two (64%) patients were treated with NIV and 18 (36%) with CPAP. NIV/CPAP was initiated on an abnormal Apnoea-Hypopnoea Index in 18 (36%) of the patients, an abnormal nocturnal gas exchange alone in 28 (56%), and after an acute respiratory failure in 11 (22%) of the patients. Mean objective NIV/CPAP adherence was 9.3±3.7 hours/night. NIV/CPAP was associated with a decrease in dyspnoea in 60% of patients, an increase in sleep duration in 60% and in sleep quality in 74%, and an improvement in parents' sleep in 40%. CONCLUSIONS: In children with life-limiting conditions, long-term NIV/CPAP may be associated with relief of dyspnoea, an improvement of SDB and an improvement in parents' sleep.

Lung volume recruitment and airway clearance for children at home in France.

BACKGROUND: Airway clearance (ACT) and lung volume recruitment (LVR) techniques are used to manage bronchial secretions, increase cough efficiency and lung/chest wall recruitment, to prevent and treat respiratory tract infections. The aim of the study was to review the prescription of ACT/LVR techniques for home use in children in France. METHODS: All the centers of the national pediatric noninvasive ventilation (NIV) network were invited to fill in an anonymous questionnaire for every child aged ≤20 years who started a treatment with an ACT/LVR device between 2022 and 2023. The devices comprised mechanical in-exsufflation (MI-E), intermittent positive pressure breathing (IPPB), intrapulmonary percussive ventilation (IPV), and/or invasive mechanical ventilation (IMV)/NIV for ACT/LVR. RESULTS: One hundred and thirty-nine patients were included by 13 centers. IPPB was started in 83 (60 %) patients, MI-E in 43 (31 %) and IPV in 30 (22 %). No patient used IMV/NIV for ACT/LVR. The devices were prescribed mainly by pediatric pulmonologists (103, 74 %). Mean age at initiation was 8.9 ± 5.6 (0.4-18.5) years old. The ACT/LVR devices were prescribed mainly in patients with neuromuscular disorders (n = 66, 47 %) and neurodisability (n = 37, 27 %). The main initiation criteria were cough assistance (81 %) and airway clearance (60 %) for MI-E, thoracic mobilization (63 %) and vital capacity (47 %) for IPPB, and airway clearance (73 %) and repeated respiratory exacerbations (57 %) for IPV. The parents were the main carers performing the treatment at home. CONCLUSIONS: IPPB was the most prescribed technique. Diseases and initiation criteria are heterogeneous, underlining the need for studies validating the indications and settings of these techniques.

Analysis of mandibular jaw movements to assess ventilatory support management of children with obstructive sleep apnea syndrome treated with positive airway pressure therapies.

BACKGROUND: The polysomnography (PSG) is the gold-standard for obstructive sleep apnea (OSA) syndrome diagnosis and assessment under positive airway pressure (PAP) therapies in children. Recently, an innovative digital medicine solution, including a mandibular jaw movement (MJM) sensor coupled with automated analysis, has been validated as an alternative to PSG for pediatric application. OBJECTIVE: This study aimed to assess the reliability of MJM automated analysis for the assessment of residual apnea/hypopnea events during sleep in children with OSA treated with noninvasive ventilation (NIV) or continuous PAP (CPAP). METHODS: In this open-label prospective non-randomized multicentric trial, we included children aged from 5 to 18 years with a diagnosis of severe OSA. The children underwent in-laboratory PSG with simultaneous MJM monitoring and at-home recording with MJM monitoring 3 months later. Agreement between PSG and MJM analysis in measuring the residual apnea-hypopnea index (AHI) was evaluated by the Bland-Altman method. The treatment effect on residual AHI was estimated for both PSG and MJM analysis. RESULTS: Fifteen (60% males) children were included with a median age of 12 years [interquartile range 8-15]. Two (17%) were ventilated with NIV and 13 (83%) with CPAP. There was a good agreement between MJM-AHI and PSG-AHI with a median bias of -0.25 (95% CI: -3.40 to +2.04) events/h. The reduction in AHI under treatment was consistently significant across the three measurement methods: in-laboratory PSG and MJM recordings in the laboratory and at home. CONCLUSION: Automated analysis of MJM is a highly reliable alternative method to assess residual events in a small population treated with PAP therapies.

Pediatric long-term noninvasive respiratory support in children with central nervous system disorders.

RATIONALE: The use of long-term noninvasive respiratory support is increasing in children along with an extension of indications, in particular in children with central nervous system (CNS) disorders. OBJECTIVE: The aim of this study was to describe the characteristics of children with CNS disorders treated with long-term noninvasive respiratory support in France. METHODS: Data were collected from 27 French pediatric university centers through an anonymous questionnaire filled for every child treated with noninvasive ventilatory support ≥3 months on 1st June 2019. MAIN RESULTS: The data of 182 patients (55% boys, median age: 10.2 [5.4;14.8] years old [range: 0.3-25]) were collected: 35 (19%) patients had nontumoral spinal cord injury, 22 (12%) CNS tumors, 63 (35%) multiple disabilities, 26 (14%) central alveolar hypoventilation and 36 (20%) other CNS disorders. Seventy five percent of the patients were treated with noninvasive ventilation (NIV) and 25% with continuous positive airway pressure (CPAP). The main investigations performed before CPAP/NIV initiation were nocturnal gas exchange recordings, alone or coupled with poly(somno)graphy (in 29% and 34% of the patients, respectively). CPAP/NIV was started in an acute setting in 10% of the patients. Median adherence was 8 [6;10] hours/night, with 12% of patients using treatment <4 h/day. Nasal mask was the most common interface (70%). Airway clearance techniques were used by 31% of patients. CONCLUSION: CPAP/NIV may be a therapeutic option in children with CNS disorders. Future studies should assess treatment efficacy and patient reported outcome measures.

Digital Action Plan (Web App) for Managing Asthma Exacerbations: Randomized Controlled Trial.

BACKGROUND: A written action plan (WAP) for managing asthma exacerbations is recommended. OBJECTIVE: We aimed to compare the effect on unscheduled medical contacts (UMCs) of a digital action plan (DAP) accessed via a smartphone web app combined with a WAP on paper versus that of the same WAP alone. METHODS: This randomized, unblinded, multicenter (offline recruitment in private offices and public hospitals), and parallel-group trial included children (aged 6-12 years) or adults (aged 18-60 years) with asthma who had experienced at least 1 severe exacerbation in the previous year. They were randomized to a WAP or DAP+WAP group in a 1:1 ratio. The DAP (fully automated) provided treatment advice according to the severity and previous pharmacotherapy of the exacerbation. The DAP was an algorithm that recorded 3 to 9 clinical descriptors. In the app, the participant first assessed the severity of their current symptoms on a 10-point scale and then entered the symptom descriptors. Before the trial, the wordings and ordering of these descriptors were validated by 50 parents of children with asthma and 50 adults with asthma; the app was not modified during the trial. Participants were interviewed at 3, 6, 9, and 12 months to record exacerbations, UMCs, and WAP and DAP use, including the subjective evaluation (availability and usefulness) of the action plans, by a research nurse. RESULTS: Overall, 280 participants were randomized, of whom 33 (11.8%) were excluded because of the absence of follow-up data after randomization, leaving 247 (88.2%) participants (children: n=93, 37.7%; adults: n=154, 62.3%). The WAP group had 49.8% (123/247) of participants (children: n=45, 36.6%; mean age 8.3, SD 2.0 years; adults: n=78, 63.4%; mean age 36.3, SD 12.7 years), and the DAP+WAP group had 50.2% (124/247) of participants (children: n=48, 38.7%; mean age 9.0, SD 1.9 years; adults: n=76, 61.3%; mean age 34.5, SD 11.3 years). Overall, the annual severe exacerbation rate was 0.53 and not different between the 2 groups of participants. The mean number of UMCs per year was 0.31 (SD 0.62) in the WAP group and 0.37 (SD 0.82) in the DAP+WAP group (mean difference 0.06, 95% CI -0.12 to 0.24; P=.82). Use per patient with at least 1 moderate or severe exacerbation was higher for the WAP (33/65, 51% vs 15/63, 24% for the DAP; P=.002). Thus, participants were more likely to use the WAP than the DAP despite the nonsignificant difference between the action plans in the subjective evaluation. Median symptom severity of the self-evaluated exacerbation was 4 out of 10 and not significantly different from the symptom severity assessed by the app. CONCLUSIONS: The DAP was used less often than the WAP and did not decrease the number of UMCs compared with the WAP alone. TRIAL REGISTRATION: ClinicalTrials.gov NCT02869958; https://clinicaltrials.gov/ct2/show/NCT02869958.

The influence of obstructive sleep apnea syndrome on orthodontic treatment decisions in children and adolescents. Part 1: OSA phenotypes, treatment temporality and reciprocal effects on growth / L'influence du syndrome d'apnées obstructives du sommeil sur la décision thérapeutique orthodontique chez l'enfant et l'adolescent. Partie 1 : Phénotypes du SAOS, temporalité des traitements et effets réciproques sur la croissance

Introduction: Pediatric OSAS is a complex condition, comprising a plurality of clinical signs, complicated by the phenomena of growth. Its etiology is dominated by the hypertrophy of lymphoid organs, but obesity and certain craniofacial and neuromuscular tone abnormalities also contribute. Material and Method: The authors summarize the interrelations between pediatric OSAS endotypes, phenotypes and orthodontic anomalies. They report clinical practice recommendations on the multidisciplinary management of pediatric OSAS and define the place and timing of orthodontics. Results: There is an indication for treatment of pediatric OSAS for an OAHI greater than 5/h, regardless of comorbidity, as well as for symptomatic children, whose OAHI is between 1-5/h. The first line of treatment is adenotonsillectomy, but it does not always normalize the OAHI. Complementary treatments are often necessary: early orthodontics (rapid maxillary expansion, myofunctional appliances), oral reeducation, as well as the management of obesity and allergies. Careful watching, without treatment is possible for mild cases with few symptoms, as pediatric OSAS tends to resolve naturally with growth. Discussion: The therapeutic approach is stratified, depending on the severity of OSAS and the child's age. In terms of orthodontic repercussions, obesity is associated with earlier maturation and some facial morphological differences, while oral hypotonia and nasal obstruction can alter facial growth, promoting mandibular hyperdivergence and maxillary deficiency. Conclusion: Orthodontists are in a privileged position for the detection, follow-up and certain treatments of OSAS.

Introduction: Le syndrome d'apnées obstructives du sommeil (SAOS) pédiatrique est une pathologie complexe, comportant une pluralité de signes cliniques, compliqués par les phénomènes de croissance. Son étiologie est dominée par l'hypertrophie des organes lymphoïdes, mais l'obésité, certaines anomalies cranio-faciales ou du tonus neuromusculaire y contribuent. Matériel et méthode: Les auteurs font la synthèse des interrelations entre endotypes, phénotypes du SAOS pédiatrique et anomalies orthodontiques. Ils résument les recommandations sur la prise en charge pluridisciplinaire du SAOS, définissant la place des traitements orthodontiques. Résultats: Une indication de traitement du SAOS pédiatrique existe pour un indice d'apnées/hypopnées obstructives (IAHO) supérieur à 5/h, indépendamment de comorbidité, ainsi que pour les enfants symptomatiques, avec un IAHO entre 1 et 5/h. La première ligne de traitement est l'adéno-amygdalectomie, qui ne permet pas toujours de normaliser l'IAHO. Des traitements complémentaires sont souvent nécessaires : orthodontie précoce (expansion maxillaire rapide, appareils myofonctionnels), rééducation orale/hygiène nasale, ainsi que la prise en charge de l'obésité et des allergies. Une surveillance attentive sans traitement est possible pour les cas peu sévères et peu symptomatiques, car le SAOS a tendance à se résoudre naturellement avec la croissance. Discussion: L'approche thérapeutique est stratifiée, en fonction de la sévérité du SAOS et de l'âge de l'enfant. Au niveau des répercussions orthodontiques, l'obésité est associée à une maturation plus précoce et à des différences morphologiques faciales, alors que l'hypotonie orale et l'obstruction nasale peuvent favoriser l'hyperdivergence mandibulaire et la déficience maxillaire. Conclusion: Les orthodontistes sont dans une position privilégiée pour le dépistage, le suivi et certains traitements du SAOS.

Respiratory function and sleep in children with myotonic dystrophy type 1.

Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease in children causing sleep and respiratory disorders that are poorly described in the literature compared to adult forms. This retrospective observational study was performed at the Armand Trousseau University Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France. We retrospectively collected data from lung function tests, nocturnal gas exchange recordings, and polysomnography of 24 children with DM1. 39% of the children with DM1 reported respiratory symptoms indicative of sleep disordered breathing. Three patients (12%) presented with a restrictive respiratory pattern, 10 (42%) with a sleep apnoea syndrome, mainly of obstructive origin (2/10 with severe obstructive sleep apnea syndrome), and 11 (45%) with nocturnal alveolar hypoventilation. Non-invasive ventilation (NIV) was indicated in 9 (37.5%) children, although tolerance was poor. No significant deterioration in respiratory function or nocturnal gas exchange was observed during the NIV-free period. This study provides new and useful insights into DM1 disease evolution in children to better adapt for respiratory follow-up and management. This highlights the need for future research to better understand the origin of respiratory and sleep disorders in patients with DM1.

COVID-19 and pediatric pulmonology: Feedback from an expert center after the first year of the pandemic.

The coronavirus disease 2019 (COVID-19) outbreak has evolved with different waves corresponding to subsequent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mutations. While the most severe cases have been observed in the elderly and in individuals with underlying comorbidities, severe pediatric and young adult cases have been observed, as well as post-infectious inflammatory syndromes and persistent symptoms leading to long-COVID. This manuscript describes the experience of a pediatric respiratory unit during the first year of the pandemic and reviews the corresponding literature with a special emphasis on children and young people with underlying conditions, such as immunosuppression, sickle cell disease, and cystic fibrosis.

Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France.

The aim of the study was to describe the characteristics of children with neuromuscular diseases treated with long term noninvasive ventilation or continuous positive airway pressure in France. On June 1st 2019, 387 patients (63% boys, mean age 11.2 ± 5.5 years) were treated with long term noninvasive ventilation/continuous positive airway pressure. Thirty three percent of patients had spinal muscular atrophy, 30% congenital myopathy/dystrophy, 20% Duchenne muscular dystrophy, 7% Steinert myotonic dystrophy, and 9% other neuromuscular diseases. Ninety-four percent of patients were treated with long term noninvasive ventilation and 6% with continuous positive airway pressure. Treatment was initiated electively for 85% of patients, mainly on an abnormal overnight gas exchange recording (38% of patients). Noninvasive ventilation/continuous positive airway pressure was initiated during a respiratory exacerbation in 15% of patients. Mean duration of noninvasive ventilation/continuous positive airway pressure was 3.3 ± 3.1 years. Mean objective long term noninvasive ventilation/continuous positive airway pressure use was 8.0 ± 3.1 h/24. Spinal muscular atrophy, congenital myopathy/dystrophy, and Duchenne muscular dystrophy represented 83% of children with neuromuscular diseases treated with long term noninvasive ventilation in France. Screening for nocturnal hypoventilation was satisfactory as noninvasive ventilation /continuous positive airway pressure was predominantly initiated electively.

SARS-CoV-2 B.1.1.529 (Omicron) Variant Causes an Unprecedented Surge in Children Hospitalizations and Distinct Clinical Presentation Compared to the SARS-CoV-2 B.1.617.2 (Delta) Variant.

Background: In the midst of successive waves of SARS-CoV-2 variants, the B.1.1.529 (omicron) variant has recently caused a surge in pediatric infections and hospitalizations. This study aimed to describe and compare the symptoms, explorations, treatment and evolution of COVID-19 in hospitalized children during the successive B.1.617.2 (delta) and B.1.1.529 (omicron) waves. Methods: This observational study was performed in the Pediatric Pulmonology Department of a University Hospital in Paris, France. All hospitalized children aged between 0 and 18 years who tested positive for SARS-CoV-2 using reverse transcription polymerase chain reaction (RT-PCR) in nasopharyngeal swabs from July 15th to December 15th 2021 (delta wave), and from December 15th 2021 to February 28th 2022 (omicron wave) were included. Results: In total, 53 children were included, 14 (26.4%) during the delta wave and 39 (73.6%) during the omicron wave (almost three times as many hospitalizations in half the time during the latter wave). During the omicron wave, hospitalized patients were mostly aged < 5 years (90 vs. 71% of all the children during omicron and delta waves, respectively), and tended to have fewer underlying conditions (56 vs. 79% during omicron and delta waves, respectively, p = 0.20). The omicron variant was also responsible for a different clinical presentation when compared to the delta variant, with significantly higher and often poorly tolerated temperatures (p = 0.03) and increased digestive symptoms (p = 0.01). None of the three patients who were older than 12 years were fully vaccinated. Conclusion: The dramatic increase in the hospitalization of children with COVID-19 and the modification of the clinical presentation between the latest delta and omicron waves require pediatricians to remain vigilant. It should also encourage caregivers to ensure vaccination in children older than 5 years, for whom the BNT162b2 COVID-19 vaccine has been deemed safe, immunogenic, and effective.

Paediatric long term continuous positive airway pressure and noninvasive ventilation in France: A cross-sectional study.

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 (PtcCO2), while 23% had only a pulse oximetry (SpO2) with PtcCO2 recording. The decision of CPAP/NIV initiation during an elective setting was based on the apnea-hypopnea index (AHI) in 41% of patients, SpO2 and PtcCO2 in 25% of patients, and AHI with PtcCO2 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.

[Obstructive Sleep Apnea in Children: A Team effort!] / Syndrome d'apnées obstructives du sommeil de l'enfant : une affaire d'équipe !

Obstructive Sleep Apnea (OSA) in children, which has a multifactorial origin, can lead, if not treated, to severe medical complications, growth disturbances, behavioural changes and reduced quality of life. Nowadays, it is underdiagnosed whereas early screening, diagnosis and interdisciplinary treatment are essential. Furthermore, many families and health professionals do not often know where to go when there is suspicion of OSA for a child. Orthodontists are uniquely positioned to screen, to refer to the appropriate specialist and to treat, if needed, patients who may be at high risk for OSA. The authors describe the synergistic means to screen, diagnose and treat paediatric OSA in a collaborative and interactive approach between ENT, orthodontists, pneumo-allergologists, sleep physicians, endocrinologists, orofacial myo-functional therapists and speech therapists. These means which are clinically illustrated in this paper fit the guidelines which have been recently published as white papers by official professional specialists organisations involved in paediatric OSA treatment (AAPD, AAO, FFO, SFORL, SFRMS…). The development of multidisciplinary teams gathering specialists who are conscious about the mutual benefits of the specialties involved in paediatric OSA should contribute to optimize the child treatment care pathway and the short, mid and long term outcomes.

The Wide Spectrum of COVID-19 Clinical Presentation in Children.

Background: Ten months after its appearance in December 2019, SARS-CoV-2 has infected more than 25 million patients worldwide. Because children were first identified as potential spreaders of the virus, schools were closed in several countries. However, it rapidly became evident that the number of hospitalized children infected by SARS-CoV-2 was dramatically lower than that of adults. To date, only hypotheses have been raised to explain this difference, so it is of great importance to describe the presentation of this disease among children. Here, we describe a wide spectrum of COVID-19 manifestation in children in a dedicated pediatric unit in France. Methods: Patients hospitalized with COVID-19 who were diagnosed on the basis of either positive SARS-CoV-2 RT-PCR in nasopharyngeal swabs and/or typical aspects in chest-computed tomography (CT) were included between March and May 2020 in Paris. Results: Twenty-three patients were included on the basis of positive RT-PCR (n = 20) and/or typical aspects in CT (n = 4). The median age was 4.9 years [0.1-17.6]. Patients were grouped by age (<2 years old: n = 14, 61%; 2-10 years old: n = 2, 9%; >10 years old: n = 7, 30%). Overweight or obesity was reported in only three patients. At presentation, the most frequent symptom in the overall cohort was fever (n = 18, 78%), followed by acute rhinitis (n = 9, 64%) and cough (n = 7, 50%) in the under 2-year-old group and cough (n = 4, 57%), fatigue, dyspnea and abdominal pain (n = 3, 43% each) in the over 10-year-old group. Five patients required ICU treatment, four of whom were aged >10 years, two presented with acute myocarditis, and two were sickle cell disease patients who presented with acute chest syndrome. Discussion and conclusion: The youngest patients seem to present milder forms of COVID-19 without the need for ICU treatment and with a shorter length of hospitalization. More severe evolutions were observed in teenagers, with, however, favorable outcomes. Given the context of closed schools and confinement, the infection of these children suggests intra-familial transmission that needs to be further assessed. This description might help to understand the intriguing differences in COVID-19 severity across age-classes.

Severe central apnea secondary to cerebellar dysplasia in a child: look past Joubert syndrome.

NONE: We report the case of a female patient aged 12 years referred to our pediatric sleep unit with a history of central sleep apnea associated with transient episodes of tachypnea on polysomnography recordings. The patient was otherwise healthy, with no personal or family medical history, and had a normal physical and neuropsychological examination. Brain magnetic resonance imaging showed signs of cerebellar vermis dysplasia but without the classical features of the molar tooth sign. The rest of the workup (genetic tests, blood tests, cardiac investigations) was normal except for an increased peripheral chemosensitivity to carbon dioxide and oxygen. The patient was successfully treated with bilevel positive airway pressure. This case report highlights the importance of performing brain magnetic resonance imaging in patients with central sleep apnea to study the cerebellum, beyond the brainstem area. Cerebellar malformations can be found even in the absence of any other neurological condition.

Nocturnal hypoventilation in Down syndrome children with or without sleep apnea.

BACKGROUND: There is a high prevalence of obstructive sleep apnea (OSA) in children with Down syndrome (DS), sometimes associated with alveolar hypoventilation. OBJECTIVE: To compare transcutaneous partial pressure of carbon dioxide (PtcCO2 ) and pulse oximetry (SpO2 ) in children with DS and in control children with OSA. PATIENTS AND METHODS: This retrospective case-control study involved children followed in Trousseau Hospital (Paris) Sleep Center. Polysomnography (PSG) recordings and clinical files of children with DS were reviewed to identify clinical signs of OSA and comorbidities associated with DS. Controls were children who presented with OSA of ENT origin without other comorbidities (exceptions: two overweight, one obese, and three with well-controlled asthma). DS subjects and controls were matched for age and apnea hypopnea index. RESULTS: There were 28 children in each group. Mean PtcCO2 during sleep was significantly higher in patients with DS compared to controls (44 mm Hg vs 42 mm Hg, P = .001). Five (21%) patients with DS met the American Academy of Sleep medicine criteria for hypoventilation, compared to one (4%) in the control group. The mean PtcO2 during sleep was significantly lower in patients with DS (77 mm Hg vs 82 mm Hg, P = .003). CONCLUSIONS: This is the first study to compare nocturnal gas exchange in children with DS to a control group of children with similar OSA. Our data demonstrate that children with DS have increased PtcCO2 regardless of the presence of OSA and its severity. This may be due to respiratory muscle hypotonia and/or ventilatory control alteration in patients with DS.

Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome.

OBJECTIVE: Imprinting disorders (ID), such as Prader-Willi syndrome (PWS), are associated with sleep-disordered breathing (SDB). No data are available for Silver-Russell syndrome (SRS), another ID that shares clinical features with PWS, although many patients describe excessive daytime sleepiness, disturbed sleep, and snoring. The aim of this study was to characterize sleep in children with SRS and to evaluate the impact of recombinant growth hormone (rGH) therapy. METHODS: We performed a retrospective analysis of sleep recordings in 40 patients with molecularly proven SRS (methylation anomaly in 11p15 [n = 32] or maternal uniparental disomy of chromosome 7 [n = 16]). Sleep recordings were either by means of polygraphy or polysomnography (PSG) (n = 16). A total of 34 patients received rGH therapy. RESULTS: We collected 61 sleep recordings. The mean apnea-hypopnea index (AHI) was 3.4 events/h (0-12.4), with a mean central AHI of 0.5 events/h (0-2.4). SDB was identified in 73.8% (n = 45) of the recordings and was severe in 4.9%. SDB was present in 86.4% of patients before rGH therapy and was severe in 13.6%. AHI worsened for 5 of 12 patients with sleep recordings before and after rGH therapy initiation, reaching mild impairment. The mean rGH dose was 32.3 µg/kg/(12.9-51.4), with a mean insulin-like growth factor 1 plasma level of 1.7 SDS (-1.9 to 6.6). CONCLUSION: Most patients with SRS present with SDB with an obstructive profile, possibly explained by narrowing of the airways and lymphoid organ hypertrophy. We recommend systematic ear-nose-throat evaluation of SRS patients and PSG if there are clinical anomalies, preferably before initiating rGH therapy, to monitor and adapt the management of patients with SDB.

Sleep disordered breathing in patients with Prader-Willi syndrome: A multicenter study.

OBJECTIVES: Sleep disordered breathing (SDB) is common in patients with Prader-Willi syndrome (PWS) and systematic screening is recommended, especially before growth hormone treatment. The aim of the study was to describe the baseline SDB and therapeutic interventions in a large cohort of patients. STUDY DESIGN: Retrospective study. SUBJECT SELECTION: Eighty-eight patients with PWS, median [interquartile range] age of 5.1 [1.0-14.5] years old (range 0.3-44.3), who were followed in three centers (France, Italy). METHODOLOGY: Anthropometrics, polygraphy (PG), and gas exchange data were analyzed. RESULTS: Median body mass index (BMI) was 20 [16-34] kg/m(2), BMI z-score for patients aged 2-20 years old was 2.1 [1.2-2.8] SD, mixed-obstructive apnea-hypopnea index (MOAHI) 1.8 [0.6-5.0] events/hr, and central apnea index (CAI) 0.1 [0.0-0.6] events/hr. Minimum pulse oximetry (SpO2) was 88 [84-91]%, percentage of time with SpO2 <90% 0.1 [0.0-1.0]%, and oxygen desaturation index 2 [1-4]/hr. An apnea-hypopnea index (AHI) ≥ 1.5 and ≥ 5 events/hr was observed in 53% of children and 41% of adults, respectively. No correlations were observed between MOAHI and anthropometrics data (age, BMI, BMI z-score), while MOAHI significantly correlated with SpO2 indexes. Age and BMI only weakly correlated with SpO2 indexes. Growth hormone could be initiated in 48 patients. Regarding post-PG therapy, 9 patients had upper airway surgery, and noninvasive CPAP/bilevel ventilation was started in 16 patients. CONCLUSIONS: Patients with PWS exhibit a high prevalence of SDB. The lack of association between obesity and SDB leads to hypothesize that hypotonia and/or facial dysmorphic features may play a major role in the occurrence of SDB.

Non-invasive positive pressure ventilation to facilitate the post-operative respiratory outcome of spine surgery in neuromuscular children.

PURPOSE: Scoliosis surgery may be associated with a high morbidity and even mortality in children with non-idiopathic scoliosis. The aim of the study was to report our experience with a pre-operative training to non-invasive positive pressure ventilation (NPPV) and a mechanical insufflator-exsufflator (MI-E) device to improve the post-operative respiratory outcome of children scheduled for scoliosis surgery. METHODS: Consecutive patients with non-idiopathic scoliosis undergoing posterior arthrodesis were trained to NPPV and MI-E before intervention. NPPV and MI-E were performed immediately after extubation. Length of intubation and intensive care unit (ICU) stay, duration of NPPV, and respiratory complications were assessed. RESULTS: Thirteen patients participated in the training (mean age 13.9 ± 2.6, mean vital capacity 52.3 ± 15.4% predicted). The patients had severe respiratory muscle weakness with a mean sniff oesophageal pressure of 35.8 ± 14.2 cmH2O (50% predicted) and a mean gastric pressure during a cough of 31.9 ± 7.8 cmH2O (30% predicted). The mean length of intubation was 19.9 ± 12.3 h with a mean length of ICU stay of 2.5 ± 2.5 days. NPPV was used during a mean of 2.7 ± 1.9 days after surgery. No respiratory complication was observed. One patient died 3 months after surgery from multi-organ failure of non-respiratory origin. CONCLUSIONS: No respiratory complications were observed after scoliosis correction surgery in children with non-idiopathic scoliosis after pre-operative training and post-operative use of NPPV and MI-E, underlying the interest of this management in these high-risk patients.

Respiratory muscle decline in Duchenne muscular dystrophy.

OBJECTIVES: Duchenne muscular dystrophy (DMD) causes progressive respiratory muscle weakness. The aim of the study was to analyze the trend of a large number of respiratory parameters to gain further information on the course of the disease. STUDY DESIGN: Retrospective study. SUBJECT SELECTION: 48 boys with DMD, age range between 6 and 19 year old, who were followed in our multidisciplinary neuromuscular clinic between 2001 and 2011. METHODOLOGY: Lung function, blood gases, respiratory mechanics, and muscle strength were measured during routine follow-up over a 10-year period. Only data from patients with at least two measurements were retained. RESULTS: The data of 28 patients were considered for analysis. Four parameters showed an important decline with age. Gastric pressure during cough (Pgas cough) was below normal in all patients with a mean decline of 5.7 ± 3.8 cmH2 O/year. Sniff nasal inspiratory pressure (SNIP) tended to increase first followed by a rapid decline (mean decrease 4.8 ± 4.9 cmH2 O; 5.2 ± 4.4% predicted/year). Absolute forced vital capacity (FVC) values peaked around the age of 13-14 years and remained mainly over 1 L but predicted values showed a mean 4.1 ± 4.4% decline/year. Diaphragmatic tension-time index (TTdi) increased above normal values after the age of 14 years with a mean increase of 0.04 ± 0.04 point/year. CONCLUSIONS: This study confirms the previous findings that FVC and SNIP are among the most important parameters to monitor the evolution of DMD. Expiratory muscle strength, assessed by Pgas cough, and the endurance index, TTdi, which are reported for the first time in a large cohort, appeared to be informative too, even though measured through an invasive method.

Longitudinal course of lung function and respiratory muscle strength in spinal muscular atrophy type 2 and 3.

BACKGROUND: Spinal muscular atrophy (SMA) is a common genetic disorder that causes severe hypotonia and weakness, and often fatal restrictive lung disease. The aim of the study was to describe the natural history of the respiratory involvement in patients with SMA type 2 and 3 in order to assess the relevance of the clinical classification and identify the parameters associated with the earliest and most rapid decline over time. METHODS: Thirty-one patients aged 3-21 years were followed over a 10-year period. Lung function, blood gases, respiratory mechanics and muscle strength with recording of oesogastric pressures were measured during routine follow-up. RESULTS: At least two measurements were available in 16 patients (seven type 2 and nine type 3). Among all the volitional and non-volitional, invasive and non-invasive tests, forced vital capacity (FVC) and sniff nasal inspiratory pressure (SNIP) were shown to be the most informative parameters, showing lower values in SMA type 2, with however a similar rate of decline in patients with SMA type 2 and 3. CONCLUSION: Our results confirm an earlier decline in lung and respiratory muscle function in patients classified as SMA type 2 as compared with patients classified as type 3. This decline can be assessed by two simple non-invasive tests, FVC and SNIP, with the last maneuver being feasible and reliable in the youngest children, underlying its interest for the monitoring of children with SMA.