Obstructive Apnea Research Articles

An exploratory study on the association between serotonin and sleep breathing disorders

This exploratory observational study aimed to evaluate whether the blood levels of serotonin and enzymes involved in serotonin synthesis are associated with sleep breathing parameters. A total of 105 patients were included in this study, who were subjected to single-night polysomnography with simultaneous audio–video recordings. Peripheral blood samples were collected to estimate the serum levels of serotonin, tryptophan hydroxylase 1 (TPH1), and aromatic l-amino acid decarboxylase (AADC). Results showed a negative correlation between blood serotonin levels, and oxygen desaturation index (ODI) (p = 0.027), central apnea (p = 0.044) and obstructive apnea (OA) (p = 0.032) scores. Blood TPH1 levels were negatively correlated with average (p = 0.003) and minimal saturation (p = 0.035) and positively correlated with apnea–hypopnea index (p = 0.010), OA (p = 0.049), and hypopnea index (p = 0.007) scores. A tendency to sleep-disordered breathing seemed to co-occur with lower blood serotonin and higher TPH1 levels.Clinical Trial Registration :www.ClinicalTrials.gov, identifier NCT04214561

Polysomnographic Phenotypes of Obstructive Sleep Apnea in a Real-Life Cohort: A Pathophysiological Approach

IntroductionObstructive sleep apnea (OSA) is heterogeneous and complex, but its severity is still based on the apnea–hypoapnea index (AHI). The present study explores using cluster analysis (CA), the additional information provided from routine polysomnography (PSG) to optimize OSA categorization. MethodsCross-sectional study of OSA subjects diagnosed by PSG in a tertiary hospital sleep unit during 2016–2020. PSG, demographical, clinical variables, and comorbidities were recorded. Phenotypes were constructed from PSG variables using CA. Results are shown as median (interquartile range). Results981 subjects were studied: 41% females, age 56 years (45–66), overall AHI 23events/h (13–42) and body mass index (BMI) 30kg/m2 (27–34). Three PSG clusters were identified: Cluster 1: “Supine and obstructive apnea predominance” (433 patients, 44%). Cluster 2: “Central, REM and shorter-hypopnea predominance” (374 patients, 38%). Cluster 3: “Severe hypoxemic burden and higher wake after sleep onset” (174 patients, 18%). Based on classical OSA severity classification, subjects are distributed among the PSG clusters as severe OSA patients (AHI≥30events/h): 46% in cluster 1, 17% in cluster 2 and 36% in cluster 3; moderate OSA (15≤AHI<30events/h): 57% in cluster 1, 34% in cluster 2 and 9% in cluster 3; mild OSA (5≤AHI<15events/h): 28% in cluster 1, 68% in cluster 2 and 4% in cluster 3. ConclusionsThe CA identifies three specific PSG phenotypes that do not completely agree with classical OSA severity classification. This emphasized that using a simplistic AHI approach, the OSA severity is assessed by an incorrect or incomplete analysis of the heterogeneity of the disorder.

Breathing cessation events that compose the apnea–hypopnea index are distinctively associated with the adverse outcomes in Alzheimer’s disease

BackgroundPrevious studies challenge the impact of obstructive sleep apnea (OSA) once patients are diagnosed with Alzheimer’s disease (AD). Nevertheless, OSA recognizably disrupts sleep, and relevant associations between sleep, AD pathological markers, and cognition have been demonstrated. We aimed to further explore this, evaluating the associations between each breathing cessation event that compose the apnea–hypopnea index (AHI) and the sleep structure to finally investigate whether this was related to increased levels of AD markers and higher cognitive decline.MethodsObservational, prospective study, including consecutive patients diagnosed with mild-moderate AD. The participants were submitted to overnight polysomnography followed by a cerebrospinal fluid collection for AD pathological markers levels determination. Neuropsychological assessment was performed at baseline and after 12 months of follow-up.ResultsThe cohort was composed of 116 patients (55.2% females) with a median [p25;p75] age of 76.0 [72.0;80.0] years and an AHI of 25.9 [15.1;48.5], which was mainly defined by the presence of hypopneas and obstructive apneas. These were distinctively associated with the sleep structure, with obstructive apneas being related to arousals and sleep lightening and hypopneas being related to an increased number of arousals only. Despite having a lower frequency, mixed and central apneas also presented associations with the sleep structure, particularly increasing the time spent in the lighter sleep stages. In relation to AD pathological markers, obstructive and mixed apneas were related to an augment in neurofilament light levels while hypopneas were associated with a higher phosphorylated-tau/amyloid-beta protein ratio. Hypopneas were the most important event for an increased cognitive decline at the 12-month follow-up.ConclusionsOur findings highlight the importance of a patient-centered approach, with a comprehensive and detailed analysis of the AHI to effectively predict the different outcomes and tailor the appropriate therapeutic strategies.

Obstructive sleep apnea event detection using explainable deep learning models for a portable monitor.

Polysomnography (PSG) is the gold standard for detecting obstructive sleep apnea (OSA). However, this technique has many disadvantages when using it outside the hospital or for daily use. Portable monitors (PMs) aim to streamline the OSA detection process through deep learning (DL). We studied how to detect OSA events and calculate the apnea-hypopnea index (AHI) by using deep learning models that aim to be implemented on PMs. Several deep learning models are presented after being trained on polysomnography data from the National Sleep Research Resource (NSRR) repository. The best hyperparameters for the DL architecture are presented. In addition, emphasis is focused on model explainability techniques, concretely on Gradient-weighted Class Activation Mapping (Grad-CAM). The results for the best DL model are presented and analyzed. The interpretability of the DL model is also analyzed by studying the regions of the signals that are most relevant for the model to make the decision. The model that yields the best result is a one-dimensional convolutional neural network (1D-CNN) with 84.3% accuracy. The use of PMs using machine learning techniques for detecting OSA events still has a long way to go. However, our method for developing explainable DL models demonstrates that PMs appear to be a promising alternative to PSG in the future for the detection of obstructive apnea events and the automatic calculation of AHI.

Effect of Obesity on Clinical Characteristics of Primary Aldosteronism Patients at Diagnosis and Postsurgical Response.

Patients with obesity have an overactivated renin-angiotensin-aldosterone system (RAAS) that is associated with essential hypertension. However, the influence of obesity in primary aldosteronism (PA) is unknown. We analyzed the effect of obesity on the characteristics of PA, and the association between obesity and RAAS components. A retrospective study was conducted of the Spanish PA Registry (SPAIN-ALDO Registry), which included patients with PA seen at 20 tertiary centers between 2018 and 2022. Differences between patients with and without obesity were analyzed. A total of 415 patients were included; 189 (45.5%) with obesity. Median age was 55 years (range, 47.3-65.2 years) and 240 (58.4%) were male. Compared to those without obesity, patients with obesity had higher rates of diabetes mellitus, chronic kidney disease, obstructive apnea syndrome, left ventricular hypertrophy, prior cardiovascular events, higher means of systolic blood pressure, and required more antihypertensive drugs. Patients with PA and obesity also had higher values of serum glucose, glycated hemoglobin A1c, creatinine, uric acid, and triglycerides, and lower levels of high-density lipoprotein cholesterol. Levels of blood aldosterone (PAC) and renin were similar between patients with and without obesity. Body mass index was not correlated with PAC nor renin. The rates of adrenal lesions on imaging studies, as well as the rates of unilateral disease assessed by adrenal vein sampling or I-6β-iodomethyl-19-norcholesterol scintigraphy, were similar between groups. Obesity in PA patients involves a worse cardiometabolic profile, and need for more antihypertensive drugs but similar PAC and renin levels, and rates of adrenal lesions and lateral disease than patients without obesity. However, obesity implicates a lower rate of hypertension cure after adrenalectomy.

Functional recovery after ischemic stroke: Impact of different sleep health parameters.

Sleep disturbances after ischaemic stroke include alterations of sleep architecture, obstructive sleep apnea, restless legs syndrome, daytime sleepiness and insomnia. Our aim was to explore their impacts on functional outcomes at month 3 after stroke, and to assess the benefit of continuous positive airway pressure in patients with severe obstructive sleep apnea. Ninety patients with supra-tentorial ischaemic stroke underwent clinical screening for sleep disorders and polysomnography at day 15 ± 4 after stroke in a multisite study. Patients with severe obstructive apnea (apnea-hypopnea index ≥ 30 per hr) were randomized into two groups: continuous positive airway pressure-treated and sham (1:1 ratio). Functional independence was assessed with the Barthel Index at month 3 after stroke in function of apnea-hypopnea index severity and treatment group. Secondary objectives were disability (modified Rankin score) and National Institute of Health Stroke Scale according to apnea-hypopnea index. Sixty-one patients (71.8 years, 42.6% men) completed the study: 51 (83.6%) had obstructive apnea (21.3% severe apnea), 10 (16.7%) daytime sleepiness, 13 (24.1%) insomnia, 3 (5.7%) depression, and 20 (34.5%) restless legs syndrome. Barthel Index, modified Rankin score and Stroke Scale were similar at baseline and 3 months post-stroke in the different obstructive sleep apnea groups. Changes at 3 months in those three scores were similar in continuous positive airway pressure versus sham-continuous positive airway pressure patients. In patients with worse clinical outcomes at month 3, mean nocturnal oxygen saturation was lower whereas there was no association with apnea-hypopnea index. Poorer outcomes at 3 months were also associated with insomnia, restless legs syndrome, depressive symptoms, and decreased total sleep time and rapid eye movement sleep.

Sleep in children from northeastern Brazil with congenital Zika syndrome: assessment using polysomnography.

We performed this study to describe the characteristics of sleep in children with congenital Zika syndrome through polysomnographic assessment. Polysomnography with neurological setup and capnography was performed. Respiratory events were scored according to American Academy of Sleep Medicine criteria. Children were classified based on neuroclinical examination as having corticospinal plus neuromuscular abnormalities or exclusively corticospinal abnormalities. Neuroradiological classification was based on imaging exams, with children classed as having supratentorial plus infratentorial abnormalities or exclusively supratentorial abnormalities. Of 65 children diagnosed with congenital Zika syndrome, sleep apnea was present in 23 children (35.4%), desaturation in 26 (40%), and snoring in 13 (20%). The most prevalent apnea type was central in 15 children (65.2%), followed by obstructive apnea in 5 (21.7%) and mixed type in 3 (13%). The average of the lowest saturation recorded was slightly below normal (89.1 ± 4.9%) and the mean partial pressure of end-tidal carbon dioxide value was normal. Periodic leg movements were present in 48 of 65 children. Lower ferritin levels were observed in 84.6% of children. Palatine and pharyngeal tonsils (adenoids) were small in most children and not associated with the presence of obstructive apnea. Ventriculomegaly and subcortical and nucleus calcification were the most frequent neuroimaging findings. Supratentorial and infratentorial anomalies were present in 26.7% (16 of 60) and exclusively supratentorial changes in 73.3% (44 of 60). In the neuroclinical classification, isolated corticospinal changes were more frequent and the mean peak in capnography was lower in this group. There was no difference regarding the presence of apnea for children in the neuroclinical and neuroradiological classification groups. Sleep disorders were frequent in children with congenital Zika syndrome, with central sleep apnea being the main finding. Brandão Marquis V, de Oliveira Melo A, Pradella-Hallinan M, etal. Sleep in children from northeastern Brazil with congenital Zika syndrome: assessment using polysomnography. J Clin Sleep Med. 2023;19(10):1759-1767.

Proposal of a Full Digital Workflow for a Bite Fork to Assess Mandibular Advancement during Drug-Induced Sleep Endoscopy (DISE) for Obstructive Sleep Apnea

(1) Background. Drug-induced sleep endoscopy (DISE) is currently regarded as the gold standard diagnostic procedure to assess the site(s) of upper airway collapse in subjects affected by Obstructive Sleep Apnea Syndrome (OSAS). During DISE, a jaw thrust maneuver is performed to advance the mandible and to predict the effectiveness of outcomes of treatment with mandibular advancement devices (MADs). However, the maneuver is not predictable and could be influenced by specific patients’ anatomical/functional conditions. The aim of this work is to propose a full-digital workflow for customizing an individual mandibular advancement fork, usable by otorhinolaryngologists during DISE. (2) Materials. Two patients with a diagnosis of mild-to-moderate OSAS (AHI ≥ 5 to ≤30/h of sleep) underwent orthodontic examination to verify the usability of the MAD. Intra-oral scans and registration were performed, including bite registration with 65% of mandibular advancement. The latter measurement was used as a reference to design a 3D-printed fork for DISE, as well as for the future MAD. Both patients underwent DISE in the operating room in the presence of an anesthesiologist, otolaryngologist, orthodontic specialist and neurophysiopathology technician. (3) Results. In the intraoperative polysomnography recording, during sleep, the presence of obstructive apnea was confirmed based on respiratory parameters (PNG1, PNG2, PNG3) with associated desaturation and increased muscle activities on PNG4 (mylohyoid muscle), EMG1 (right masseter muscle) and EMG2 (left masseter muscle). With the advancement fork in place, the immediate improvement effect on all respiratory parameters with normal saturation values and the complete suppression of masseter muscles were observed. Accordingly, both patients were considered potential good-responders to the MAD treatment. (4) Conclusions. The preliminary data shown are encouraging and would suggest that the fork represents a stable reference for the otorhinolaryngologist to evaluate the airway patency within the physiological range of movement. The efficiency of the work-flow from data registration to the DISE procedure and laboratory process represent two significant advantages that justify the integration of a digital system in the management of patients affected by OSAS.

Detection of Respiratory Events during Sleep Based on Fusion Analysis and Entropy Features of Cardiopulmonary Signals.

Sleep apnea hypopnea syndrome (SAHS) is a common sleep disorder with a high prevalence. The apnea hypopnea index (AHI) is an important indicator used to diagnose the severity of SAHS disorders. The calculation of the AHI is based on the accurate identification of various types of sleep respiratory events. In this paper, we proposed an automatic detection algorithm for respiratory events during sleep. In addition to the accurate recognition of normal breathing, hypopnea and apnea events using heart rate variability (HRV), entropy and other manual features, we also presented a fusion of ribcage and abdomen movement data combined with the long short-term memory (LSTM) framework to achieve the distinction between obstructive and central apnea events. While only using electrocardiogram (ECG) features, the accuracy, precision, sensitivity, and F1 score of the XGBoost model are 0.877, 0.877, 0.876, and 0.876, respectively, demonstrating that it performs better than other models. Moreover, the accuracy, sensitivity, and F1 score of the LSTM model for detecting obstructive and central apnea events were 0.866, 0.867, and 0.866, respectively. The research results of this paper can be used for the automatic recognition of sleep respiratory events as well as AHI calculation of polysomnography (PSG), which provide a theoretical basis and algorithm references for out-of-hospital sleep monitoring.

0804 Sleep-disordered Breathing in Myelomeningocele and Chiari II Malformation: Our Experience at a Tertiary Care Center

Abstract Introduction Children with myelomeningocele (MMC) and Chiari Malformation type II (CMII) have some degree of sleep-disordered breathing (SDB), which may include central apnea, obstructive apnea, and hypoventilation. Untreated SDB may lead to growth failure, neurocognitive and behavioral abnormalities, cor pulmonale, and death. There is no standardized diagnostic and management protocol to be followed if SDB is suspected in a patient with CMII and MMC. Methods Variability in physician practice patterns was assessed for patients with CMII and MMC suspected of having SDB at a tertiary care center from January 2008 to December 2018. Results 180 patients with CM2 and MMC were identified. Pulmonology/Sleep providers were consulted on 63 of them. A sleep study was ordered for 73% of these patients, with snoring being the most common indication. Most patients had obstructive sleep apnea, with mean obstructive AHI of 6 events/h. Recommendations after sleep study included supplemental oxygen (20%), non-invasive positive airway pressure initiation (9%), subspecialty referral in 35% (otolaryngology and neurosurgery), and tracheostomy with mechanical ventilation in 10% of the patients. Conclusion In a large tertiary care center, there was significant variability in clinical practice patterns for children with CM2 and MMC who have SDB. Clinicians caring for these patients should consider PSG to enhance early diagnosis and management of SDB. A standardized diagnostic and management protocol could complement physician judgment to care for this complex patient population. Support (if any)

0797 Correlation between Obstructive Sleep Apnea and Echocardiography Parameters in Infants and Preschool Children with Down Syndrome

Abstract Introduction Down syndrome (DS) is one of the most common genetic disorders caused by the Trisomy of chromosome 21. Children with DS secondary to the unique airway anatomy and hypotonia, are at risk for obstructive sleep apnea (OSA). Untreated OSA in children can lead to serious complications because of chronic hypoxia leading to Pulmonary hypertension (PHTN) and Cor pulmonale. An overnight polysomnogram (PSG), the gold standard for diagnosing OSA in children, should be performed within 4 years per American Academy of Pediatrics recommendations. However, OSA in DS has been observed at a much younger age. Methods In this single-center retrospective study, data was collected by reviewing the medical records and PSG REDCap database from 2019-2021. Patients with ICD code 10 diagnosis of DS between 0 to 4 years of age who underwent PSG and echocardiography were included. Our primary aim was to assess the severity of OSA in preschool children and describe echocardiogram parameters in DS patients with OSA. We hypothesized that there will be differences in polysomnogram parameters of DS children with and without PHTN. Results 61 patients met the criteria for the study with the mean age being 11.3 months. 3 patients (5.4%) did not have OSA (apnea hypopnea index (AHI)&amp;lt; 1/hr), 11 patients (19.6%) had mild OSA (AHI 1-4.9/hr), 12 patients (21.4%) had moderate OSA (AHI 5-10/hr), 30 patients had severe OSA (AHI &amp;gt;10/hr). Five patients with missing AHI values were excluded for subsequent analyses. Echocardiogram parameters were compared using the described AHI cut offs to define severity of OSA. OSA was observed to be significantly higher in the group with elevated RV systolic pressure. Conclusion Although our study did not find any difference in PSG findings in young children with DS with and without PHTN, obstructive apnea index was significantly elevated in young children with elevated RV systolic pressure. OSA is a significant contributor to the development of PHTN in children with DS. Children with DS are at higher risk for PHTN due to their unique pulmonary vasculature. As PHTN is a significant comorbidity of DS, it is important to perform PSGs early during childhood to detect and treat OSA. Support (if any)

0806 Treatment of sleep disordered breathing improves quality of life in children with Down syndrome

Abstract Introduction Children with Down syndrome (DS) are at increased risk of obstructive sleep disordered breathing (SDB), which is associated with sleep disruption affecting daytime functioning. We examined the effects of treatment of SDB on sleep and daytime functioning in children with DS. Methods Children with DS and SDB (n=34) completed a baseline and follow-up study which included 7 days of actigraphy in conjunction with a parental sleep diary. Parents also completed a number of questionnaires assessing sleep, behaviour, daytime functioning and quality of life (QOL). All children had overnight polysomnography (PSG) at baseline and 24 had PSG at follow-up. Results 15 children (44%) were treated. At baseline the treated group had more severe SDB at baseline compared to the untreated group: obstructive apnoea hypopnoea index (OAHI) 29.3 ± 38.2 events/h vs 3.3 ± 5.2 events/h (p&amp;lt; 0.01). Actigraphy showed no significant differences in total sleep time or sleep efficiency from baseline to follow up in either the treated or untreated group. Wake after sleep onset increased at follow-up in the untreated group (p&amp;lt; 0.01). The sleep disturbance (p&amp;lt; 0.01) and total problems (p&amp;lt; 0.05) scales on the OSA-18 and the SDB subscale on the Pediatric Sleep Problem Survey Instrument (p&amp;lt; 0.01) improved in the treated children. No changes were seen in any of the measures in the untreated children. Conclusion Treatment of SDB improves QOL, despite treatment having no demonstrable impacts on actigraphic sleep measures. In contrast despite having less severe SDB children who were untreated had no improvements in QOL and increased sleep disruption. Support (if any) Jerome Lejeune Foundation

1012 Sleep disordered breathing in children with Congenital Myasthenic Syndrome

Abstract Introduction Congenital Myasthenic Syndromes (CMS) include a group of heterogeneous disorders encompassing the neuromuscular junction. These disorders have a wide range of clinical presentations according to the degree and group of muscles involved. While some children can present with modest muscle weakness, others present with significant hypotonia, or even respiratory failure. The natural history of CMS, and in particular, the diagnostic role of polysomnography (PSG) in these children, is not well documented. Report of case(s) Retrospective chart review via EMR in a large tertiary center. Patient 1. 19-month-old male with VAMP-1 gene mutation, treated with pyridostigmine, underwent a PSG to evaluate for sleep disordered breathing (SDB). The PSG demonstrated an AHI of 17.7. Repeat PSG post adenoidectomy showed an obstructive apnea hypopnea index (OAHI) 8.6, and central apnea index (CAI) 1.2. He was started on 0.5 LPM oxygen for sleep. Patient 2. 2-year-old female with GFPT1 gene mutation, chronic respiratory failure, tracheostomy/ventilator dependent had a PSG with tracheostomy uncapped on room air which showed an OAHI 1.7, and CAI 0.3. Four years later, split night PSG was started on room air which showed an OAHI 2.8, and CAI 4.6. The ventilator was added at patient’s home settings which improved sleep quality and resolved respiratory events. She was continued on home ventilator settings for sleep despite pharmacological treatment with pyridostigmine. Patient 3. 3-year-old male with CHRNE gene mutation and treated with pyridostigmine. He was evaluated for SDB due to snoring. The PSG demonstrated an OAHI 3.4, and CAI 1.4. Repeat PSG post adenotonsillectomy showed an OAHI 0.4, and CAI 0.4. A third PSG at age 5 was normal. Conclusion We present 3 children with various mutations leading to CMS. The heterogeneity in the clinical course, response to therapy, and outcome may be related to genetic mutations, severity of the disorder and muscles involved, time of diagnosis and medical response to treatment. Polysomnography is an important modality for diagnosis of SDB as well as to monitor response to treatment over time. We conclude that patients with CMS should have a PSG completed given this increased risk. Support (if any)

1028 Congenital Central Hypoventilation in a patient with MCEP2 duplication syndrome

Abstract Introduction Congenital central hypoventilation (CCHS) is a rare disorder due to impairment of autonomic nervous system clinically defined by a significantly reduced or abolished ventilatory response to hypercapnia and hypoxemia in the absence of pulmonary, neuromuscular, or cardiac disease. There is limited knowledge on associated respiratory manifestations and sleep-disordered breathing in children with the MECP2 duplication syndrome. Although sleep-disordered breathing and nocturnal hypoventilation are currently not well recognized in these children, we present a case of a patient with MECP2 mutation and congenital hypoventilation syndrome. Report of case(s) 24-week-old male born full-term via c-section presented with recurrent respiratory problems, laryngeal cleft, dysphagia, snoring and apneic episodes. Previous genetic work up showed chromosome 15q11.2 microdeletion. Past medical history was significant for neonatal ICU stay for respiratory distress immediately following birth. Tonsils are 1+ on exam. PSG showed profound central sleep apnea (CAI 300/h) with average apneic episodes lasted for 7 seconds and very significant periodic breathing (88%) and mild obstructive apnea. Mild hypoxemia was also seen with SpO2 in low 90s without any significant hypercapnia. Bradypnea with resp rate 10-20/m was seen. PHOX2B gene testing was negative. Genetic testing with SNP array showed MECP2 duplication syndrome. His development is delayed, currently at the age of 20 months, including cognitive, speech and motor function for which he is on therapy. Tracheostomy was recommended, however family preferred to continue with non-invasive ventilation while awaiting diaphragmatic pacing. Conclusion Respiratory manifestations in MECP2 duplication syndrome patients are common, with important impact and even a possible fatal outcome. Although sleep-disordered breathing and nocturnal hypoventilation is currently not cited as an important symptom in these children, there have been several case reports of CCHS associated with this. PSG should be considered in patients with MCEP2 duplication syndrome for timely diagnosis. Different treatment modalities (ENT surgery, CPAP and NIV) can be applied successfully to treat respiratory conditions associated with MECP2 duplication syndrome. Support (if any)

0525 Effect of Body Position and Sleep State on Obstructive Respiratory Events Distribution in Children with Down syndrome

Abstract Introduction The influence of body position and sleep state on obstructive respiratory events distribution in children with Down syndrome (DS) need further studies. Methods This was a single center, retrospective study that included children younger than 18 years old with DS who were evaluated for suspected sleep disordered breathing and underwent a full overnight polysomnography in an academic sleep disorders center over a period of 10 years. DS children with Obstructive apnea hypopnea index (OAHI) ≥ 1.5 were included in this study. Total OAHI, apnea hypopnea index (AHI) in different body positions and in different sleep stages including rapid eye movement (REM) and Non-REM (NREM) sleep were collected. Results A total of 158 children with DS met the inclusion criteria. The median age was 5 years (IQR 8.0---), 53.2% were male with a median BMI z-score of 1.2. Median times (%) spent in REM and NREM sleep were 17 % and 83% respectively. Median times (minutes) spent in different body positions were supine 194.1, left side 53.5, right side 39 and prone 32. The overall median OAHI was 7.6, respiratory obstructive events were more common in REM sleep and in supine position. The median REM obstructive AHI was 20 events per hour (IQR: 10.1-34.5), whereas the median NREM AHI was 5.2 events per hour (IQR: 2.4-15 p &amp;lt; 0.0001). Similarly, supine obstructive AHI was 9.4 (IQR-4.15 – 24.1) and off supine AHI was 2.4 (IQR 0-8.9 p &amp;lt; 0.0001). Only 24 out of 158 subjects had NREM predominant OSA. Age was a significant predictor of NREM predominant OSA (P= 0.012) compared to other factors such as gender, race, BMI, tonsillar grade, hypothyroidism and congenital heart disease. For every one year increase in age, the odds of having NREM predominant OSA was 14% higher than having REM predominant OSA. Conclusion Obstructive respiratory events in children with DS occur predominantly in REM sleep and in supine position. Non-REM predominant distribution of respiratory events was seen in older children with DS. Support (if any)

Sleep in Gerstmann-Straüssler-Scheinker disease

BackgroundGerstmann-Sträussler-Scheinker (GSS) is a rare prion disease with heterogeneous clinical presentation. Although sleep-related abnormalities are prominent and well-known in other prion diseases such as fatal familial insomnia and Creutzfeldt-Jakob disease, information on sleep is limited in GSS. MethodsWe evaluated sleep in three genetically confirmed GSS cases using clinical history, sleep scales and video-polysomnography. In addition, patients underwent neurological assessment, neurological scales, neuropsychological testing, lumbar puncture, brain MRI and brain 18F-FDG-PET. ResultsTwo patients reported sleep maintenance insomnia attributed to leg stiffness and back pain while the remaining patient did not report sleep problems. Video-polysomnography showed normal sleep staging in all of them. Findings such as reduced sleep efficiency in two patients, a confusional arousal in one patient, obstructive apneas in one patient, and periodic legs movements in sleep in two patients were observed. ConclusionsIn contrast to fatal familial insomnia, the normal sleep staging in GSS may suggest dissimilar involvement of the neuronal structures that regulate sleep. We found non-specific sleep alterations in GSS such as obstructive apneas and periodic leg movements in sleep which are of unknown origin and of uncertain clinical relevance. Studies including a larger number of patients, serial sleep evaluations and incorporating neuropathological assessment will further help to understand sleep in GSS.

Pierre Robin Sequence and Respiratory Distress: Long-Term Evolution in Patients Submitted to the Conservative Treatment.

Pierre Robin Sequence (PRS) is characterized by micrognathia, glossoptosis, cleft palate, and airway distress. The aims of initial treatment are the improvement of airway and feeding. There are many therapeutic options, including conservative techniques (prone positioning and nasopharyngeal tube) and invasive procedures (mandibular distraction and tracheostomy). In our center, initially conservative treatment is the rule and many patients have been treated with nasopharyngeal tube. The aim was to analyze of the clinical evolution of respiratory distress in infants with PRS submitted to nonsurgical treatment. A retrospective and observational descriptive evaluation was carried out with 56 patients with the PRS at Centro de Atendimento Integral ao Fissurado Labiopalatal (CAIF). 21 patients were selected to a transversal phase. The treatment has started in an average age of 1.5 months (±2.09) and 17 (94.4%) had respiratory distress at birth. Polysomnographic exams showed an average apnea/hypopnea index of 0.93, an average number of central apnea/hour of 0.3, an average number of obstructive apnea of 0.6 and an average oxygen saturation of 92%. There was the predominance of esthetic profile in class II with 16 (88.9%) patients in this group, and orthodontic profile in class II with 15 (83.3%) patients. The conservative treatment has presented remarkable results in the treatment of respiratory distress in bearers of PRS with a decrease of obstructive sleep events considering the growth of patient and the development of mandibular growth as well.

Sleep disordered breathing improvement prevents worsening of autonomic dysfunction in children with Down syndrome

BackgroundResolution of sleep disordered breathing (SDB) in typically developing children normalises heart rate variability (HRV), a measure of autonomic control, to that of non-snoring controls. Children with Down Syndrome (DS) have dampened heart rate variability (HRV) but the effect of treatment is not known. To assess the effect of improvement of SDB on autonomic control we compared HRV in children with DS whose SDB improved over 2 y, to those whose SDB did not improve. Methods24 children (3–19 y) had a baseline and follow-up polysomnographic study 2 y later. Improved SDB was defined as a reduction in obstructive apnea hypopnea index (OAHI) to ≤ 50% of baseline. Children were grouped into Improved (n = 12) and Unimproved (n = 12). Power spectral analysis of the ECG determined low frequency (LF), high frequency (HF) power and the LF/HF ratio. Seven children in the Improved and 2 in the Unimproved group were treated following the baseline study. ResultsIn the Unimproved group at follow-up, LF power was lower compared to baseline during N3 and Total Sleep (p < 0.05 for both). HF power was lower during REM (p < 0.05). HRV remained unchanged between studies in the Improved group. ConclusionAutonomic control worsened as indicated by lower LF and HF power in children whose SDB was not improved. In contrast, in those children with improved SDB, autonomic control remained the same, suggesting improvement in SDB severity prevents further worsening of autonomic control in children with DS.

Sleep-disordered breathing in the acute phase of ischemic stroke

Objective. Sleep-disordered breathing (SDB) is a common cardiovascular risk factor. The aim of our study was to assess the occurrence and features of SDB in patients with acute supratentorial ischemic stroke. Design and methods. Patients 18-89 years of age with acute ischemic stroke admitted to the stroke intensive care unit within 24 hours after the symptom onset underwent respiratory monitoring during the first day of hospitalization. 1616 patients were screened between 2018 and 2021 years, respiratory monitoring was performed in 583 patients, and data from 281 patients [mean age 67 (30; 89) years, 146 males (52 %)] were included in the final analysis. Results. The mean respiratory disturbance index was 11,8 (0; 88)/h. SDB was detected in 182 patients (69,2 %), with mild severity in 28,6 %, moderate in 24,2 %, and severe in 47,2 %. Prevalent obstructive apnea type was observed in 71,1 %, central type in 14,2 %, and mixed type in 14,7 %. The TOAST stroke subtype distribution was the following: unspecified etiology was diagnosed in 52 %, cardioembolic in 26 %, atherothrombotic in 11 %, lacunar in 9 %, and other established etiology in 2 %. The majority of patients had mild stroke severity (89,4 %), moderate and severe stroke was diagnosed in 10,5 %. No significant differences in the main indices of the type and severity of sleep apnea were found in the groups based on severity and pathogenetic type of stroke. Conclusions. Our results correlate with the worldwide prevalence of SDB in patients with ischemic stroke (69,2 % and 71,1 %). Further analysis with inclusion of more patients with moderate and severe stroke is required, as well as a prospective study to assess the prognostic impact of SDB.

Cardiovascular remodeling in active and controlled acromegaly: association with sleep-disordered breathing.

We hypothesized that anunfavorable cardiovascular profile in acromegaly is associated with sleep-disordered breathing (SDB), while acromegaly control improves both respiratory sleep characteristics and thecardiovascular profile. The patients underwent the assessment of breathing during sleep and cardiovascular profileassessment atthe start of the studyincluding arterial stiffness, blood pressure, echocardiography, nocturnal heart rate variability (HRV). The assessment was repeated in patients withacromegaly at 1 year after transsphenoidal adenectomy (TSA). A total of 47 patients with acromegaly and 55 control subjects were enrolled. At one year after TSA, 22 patients with acromegaly were reassessed.Multiple linear regression analysis with adjustment for age, sex and body mass index (BMI) showed the associations of insulin growth-like factor 1 (IGF-1) with obstructive apnea index (OAI: β=0.035/h, p<0.001), but not with cardiovascular parameters, in patients withacromegaly. The analysis of combined acromegaly and control dataset with adjustment for age, sex and BMI showed the association the presence of acromegaly with diastolic blood pressure (DBP; β=17.99 mmHg, p<0.001), ejection fraction (EF; β=6.23%, p=0.009), left heart remodeling (left ventricle posterior wall: β=0.81 mm, p=0.045) and the association of the presence of SDB (apnea-hypopnea index≥15/h) with left ventricular function (EF: -4.12%, p=0.040; end systolic volume: 10.12 ml, p=0.004). Control of acromegaly was accompanied by the decrease in OAI (5.9 [0.8, 14.5]/h and 1.7 [0.2, 5.1]/h, p=0.004) and nocturnal heart rate (66.1 [59.2, 69.8] bpm and 61.7 [54.0, 67.2] bpm, p=0.025) and by the increase in blood pressure (DBP: 78.0 [70.3, 86.0] mm Hg and 80.0 [80.0, 90.0] mm Hg, p=0.012). The comorbidities of acromegaly, including sleep-disordered breathing, appear to have a long-term effect on cardiovascular remodeling in active acromegaly. Future studies should investigate the applicability of the treatment of SDBfor the reduction of cardiovascular risk in acromegaly.