bluuebunny/crossref_metadata_2025 huggingface dataset:
0955 Evaluating state-of-the-art algorithms for sleep-wake classification using wrist-worn wearable devices
Authors: Patterson Matthew , Nunes Adonay , Gerstel Dawid , Pilkar Rakesh , Neishabouri Ali , Guo Christine
Published: May 2023

Introduction

Over the last 40 years, a variety of algorithms have been proposed to classify sleep-wake from wrist acceleration data. Input features into these algorithms have been activity counts or raw acceleration. The algorithms proposed range from a single heuristic rule to logistic regression to machine learning and deep learning. The purpose of this work is to evaluate and compare the accuracy of these algorithms against polysomnography (PSG) annotations on a common dataset from a sleep laboratory.

Methods

The Newcastle PSG dataset was used to compare the various sleep-wake prediction algorithms to concurrent PSG annotations in thirty second epochs. This dataset contains 28 patients, 27 of which had wrist acceleration data for both the right and left wrist and one which had data for the left wrist only. Twenty of the participants had at least one sleep disorder. Sleep disorders included idiopathic hypersomnia, restless leg syndrome, sleep apnea, narcolepsy, sleep paralysis, nocturia, obstructive sleep apnea, RBD, parasomnia and insomnia.

Results

The domain adversarial convolutional neural network (DACNN) model showed the best overall results (sens=83.9, spec=57.6, f1=81.7, WASO-RMSE=80.9). The next best performing model according to WASO-RMSE was Cole-Kripke (sens=81.4, spec=50.3, f1=78.0, WASO-RMSE=90.4). This was followed by the van Hees heuristic model (sens=83.6, spec=47.5, f1=79.1, WASO-RMSE=91.1). The fourth best performing model was the Random Forest model (spec=77.5, sens=55.5, f1=76.4, WASO-RMSE=93.0). The fifth best performing model was Sadeh (sens=82.6, spec=49.7, f1=78.5, WASO-RMSE=93.6). The sixth best performing model was the LSTM model (sens=78.6, spec=58.9, f1=77.8, WASO-RMSE=93.9). The worst performing model was the CNN model (sens=79.8, spec=54.2, f1=77.8, WASO-RMSE=99.8). * sens=sensitivity, spec=specificity, WASO=wake after sleep onset, RMSE=root mean squared error

Conclusion

The DACNN algorithm outperformed all other algorithms on sleep-wake classification from wrist acceleration data. Despite being vastly different in input features’ types and algorithm complexity, all other algorithms performed similarly on the dataset, with f1 scores ranging from 76.4 to 79.1 and WASO-RMSE ranging from 90.4 to 99.8.

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0959 Use of a Memory Foam Mattress Improves Sleep Quality and Consistency
Authors: Danoff-Burg Sharon , Rus Holly , Burke Colin , Weaver Morgan , Carmon Kiara , Ledesma Duvia Lara , Rodriguez Rodolfo
Published: May 2023

Introduction

Previous research has shown that comfort, including comfort of the sleep surface, is essential to sleep quality. In addition to comfort, the structure and firmness of a mattress may play a role in sleep quality. More empirical research is needed to establish the impact of particular mattresses on both objective and self-reported measures of sleep. This study compared sleep on a memory foam mattress to participants’ prior sleep on their original mattress.

Methods

Healthy adults (65% female, ages 24-59) participated in a 10-week field study, using a pre-post intervention design. During the 4-week baseline period, participants used their regular mattress at home. During the 4-week intervention period, which occurred following a 2-week adjustment period, they used a Sleepy’s Memory Foam mattress at home. Sleep was measured objectively using SleepScore Max every night and by daily and pre-post self-report. Multilevel regression and paired t-tests were used to test for statistical significance.

Results

There were over 1,000 nights of tracked sleep across 25 participants. Objective sleep measurements showed many nightly improvements during the intervention compared to baseline: less WASO, both in duration (-7 minutes, p<.001) and proportion of the night (p<.001); fewer awakenings (p=.002); and better sleep efficiency (p<.001) and sleep maintenance (p<.001). Improvement also was observed in SleepScore, a measure of sleep quality (p=.008). Self-report measures revealed greater comfort when using the memory foam mattress, as well as improvement in a variety of perceived sleep outcomes, including time to fall asleep, waking less often, spending less time awake after initially falling asleep, longer sleep duration, better sleep quality, and feeling more rested in the morning (ps<.05).

Conclusion

Objectively-measured sleep and self-reported sleep improved in quality and consistency when using the memory mattress compared to healthy adults’ original mattresses. Furthermore, qualitative and quantitative self-report results suggested that the intervention was perceived as comfortable.

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Mattress Firm INC
0962 Depression And Sleep Health In A Nationwide Survey: Implications For Depression Therapy During the COVID-19 Pandemic
Authors: Chery Maurice , Baral Amrit , Rolle LaShae , Bernard Maritza , Alfonso Ana Gabriela Sanchez , Duthely Lunthita M , Jean-Louis Girardin , Seixas Azizi , Blanc Judite
Published: May 2023

Introduction

Sleep disturbances are linked to detrimental health outcomes, including mental health and cardiovascular health. A bidirectional relationship between depression and sleep health is well documented in the literature. However, little is known regarding which sleep health dimensions is associated with depression. The purpose of this study is to investigate the relationship between depression and multiple sleep health dimensions; more specifically sleep duration and insomnia symptoms among US adults from January to December 2020.

Methods

We analyzed data from the 2020 National Health Interview Survey (NHIS) conducted among a representative sample of 31, 568 adults. First, we used binary logistic regression models to examine the association between self-reported diagnosis of depression and insomnia variables. Then, a multinomial regression assessed the association between depression symptoms and sleep duration. Our models statistically adjusted for sociodemographic factors (age, sex, marital status), health risk behaviors (smoking and alcohol use status), race/ethnicity, general health condition.

Results

The mean age was 53.50 [±18.04] years. Women represented 54% of the sample and twice as likely to report depression symptoms (67.51 vs 32.49, p< 0.001) relative to men. Binary logistic regression indicated that participants with symptoms of depression had higher odds of having difficulty staying asleep (OR:1.58; 95%CI: 1.43-1.74, p<.0001), difficulty falling asleep (OR:1.46; 95%CI: 1.30-1.62, p<.0001), and feeling unrested (OR:1.70; 95%CI: 1.50-1.93, p<.0001) respectively. Multinomial logistic regression showed that participants with symptoms of depression reported higher odds of having both short sleep (≤ 6 hours) (OR: 1.10; 95% CI: 1.0-1.21, p=0.0424) and long sleep (> 9 hours) (OR: 1.72; 95% CI: 1.50- 2.0, p<.0001).

Conclusion

Our research is among the first to confirm strong associations between depression and several dimensions of sleep in the US general population during US COVID-19 pandemic. Our findings underline the importance of sleep health in treating depression as the nation battles the current mental health crisis.

Support (if any)

Funding sources: R01HL152453-01 R01HL142066, R01HL095799, RO1MD004113
0966 Correlation of Sleep-related Habits and COVID-19 to Pediatric Residents ITE Scores
Authors: Rico Jorge Valencia , Sendon Carlos , Strunc Michael , Pallera Haree , Vazifedan Turaj
Published: May 2023

Introduction

Inadequate sleep negatively affects decision-making. The extent to which it may affect medical residents' performance on the In-Training Examination (ITE) is unclear. Research from Weeks et al., 2021 showed that each hour of sleep a medical resident received prior to the ITE, increased their odds of scoring over 70% on the exam by 25%. A typical resident sleeps six hours a night, which is less than the recommended seven to nine hours a night. Associations between COVID-19 and sleep disorders are more prevalent among healthcare workers. We aim to correlate pediatric ­residents' habits and COVID-19 status with their 2022 ITE scores.

Methods

A cross-sectional, 10-question, electronic, and anonymous survey was sent to the pediatric residents (N=74) in our program. Fisher’s exact test was used to assess the correlation between ITE score less than 70% and rotation at the time of the exam, COVID-19 status, caffeinated beverages, and exercise. Linear regression model was used to analyze the impact of these variables on ITE scores. All statistical tests were two-sided, and p< 0.05 was considered statistically significant. Our methods were limited by a small sample size and recall bias.

Results

A total of 37(50%) residents completed the survey and were included in the analysis. Of those residents, 27(73%) sleep 6-7 hours/night, 9(24.3%) use melatonin regularly, and 23(62.2%) drink caffeine daily. Residents diagnosed with COVID-19 before the 2022 ITE scored significantly lower on the ITE. (-12.1, 95% CI[-23.9, -0.27], p=0.045. There was not any significant association between ITE score less than 70% and rotation (p=0.79), caffeinated beverages (p=0.41), and exercise (p=0.99).

Conclusion

ITE scores of pediatric residents in our program were not significantly influenced by exercise, caffeine consumption, or rotation at the time of the exam. Interestingly, residents who tested positive for COVID-19 before the 2022 ITE displayed significantly lower scores. This finding is in line with a limited number of prior studies pointing to possible long-term cognitive consequences associated with this infection. To better understand this association, we suggest a larger study incorporating sleep hours the night before the exam and COVID status.

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0973 HGNS Sensing Lead Damage After 3D Mammogram Requiring HGNS IPG and Lead Re-Implantation
Authors: Srikrishnan Anand , Tran Katie
Published: May 2023

Introduction

Obstructive sleep apnea (OSA) is associated with excessive daytime sleepiness, nocturnal hypoxemia, and daytime fatigue. Standard therapy is with positive airway pressure (PAP) therapy. If this is unsuccessful or poorly tolerated, a hypoglossal nerve stimulator (HGNS) can be surgically implanted for treatment. The goal of HGNS treatment is to advance the tongue with each respiration during sleep to relieve oropharyngeal obstruction causing OSA. This therapy has been shown to be efficacious and well tolerated for moderate to severe sleep apnea with a low complication rate.

Report of case(s)

A 61 year-old female with history of obesity and severe OSA presented to the sleep clinic with complaint of excessive daytime sleepiness and persistently elevated apnea-hypopnea index (AHI) of 42 events/hour despite adequate usage of CPAP therapy. She underwent an HGNS placement for treatment. Following HGNS activation she used it nightly and three months after implantation underwent an HGNS titration study which was successful (AHI 5.7) and the patient was started on optimal treatment settings with resulting resolution of OSA symptoms. After a period of successful device usage, she presented for follow up and reported complaints of excessive fatigue and sleepiness that was sudden. She attributed these changes to a 3D mammography study she underwent for breast cancer surveillance. Repeat home sleep apnea testing showed sudden worsening of her AHI to 50.6. During a thorough investigation of her device, HGNS sensing waveforms indicated possible sensing lead fracture. The patient was taken to the operating room for implanted pulse generator removal and replacement with new sensing and stimulation leads. Intra-operatively, it was noted that the distal sensing lead had several tears of the polyurethane insulation near the hub of the sensor. Following successful re-implantation sensing returned to normal and she has continued HGNS treatment.

Conclusion

We present a case of an unusual complication of HGNS sensing lead damage following a 3D mammography study. This led to surgical exploration with removal of a torn sensing lead and re-implantation of the HGNS generator and leads. Attention should be brought to patients and providers in the future regarding this rare, but potentially serious complication.

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0974 Limitations of Hypoglossal Nerve Stimulation in Patients with Down Syndrome
Authors: Dabboussi Tarek , Manchanda Shalini , Parker Noah , Shah Sachin , Stahl Stephanie
Published: May 2023

Introduction

Obstructive sleep apnea (OSA) is a common sleep disorder affecting up to 80% of people with Down Syndrome (DS). Tonsillectomy and adenoidectomy (T&A) are commonly utilized as the first line of treatment of OSA in patients with DS. However, even after T&A, OSA can persist in up to 60% of patients. Positive airway pressure (PAP) compliance is low in patients with DS, limiting treatment efficacy. Hypoglossal nerve stimulation (HNS) is FDA-approved for the treatment of select adult patients with OSA. Limited research is available on HNS in people with DS; however, the limited data suggests that HNS may be a safe and effective treatment in this patient population. We describe two cases of patients with DS and HNS with unique challenges with treatment.

Report of case(s)

Case 1: A 36-year-old male with a history of DS presented for follow-up after activation of the HNS. The patient had been living part-time in a group home. While the patient’s mother thought he was using HNS every night, the download from the remote showed 41% usage over a three-week time frame. With further investigation, it was determined that the device was turned on the nights when the patient was at home with his parents, but not when he was at the group home despite detailed caregiver education. Case 2: A 19-year-old male with OSA and DS returned for a follow-up of his HNS. Upon exam, the patient’s HNS was already “on” in clinic, which the mother was unaware of. Download from the remote showed a usage time of 13+ hours, and the HNS was commonly “on” into the afternoon well after the patient had left for school in the morning, indicating that the HNS was commonly left on while the patient was awake. Despite significant education, the caregiver was not correctly turning the HNS off.

Conclusion

HNS offers a therapeutic alternative in patients with DS, who are refractory to T&A and PAP. The success of the treatment is dependent on multiple factors, including therapy mechanics, patient tolerance, and caregiver education/compliance. Additional caregiver instruction may be necessary to ensure optimal use.

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0975 Severe Central Sleep Apnea After Bilateral Lung Transplantation
Authors: Akhverdyan Nazar , Camacho Jessica
Published: May 2023

Introduction

Central sleep apnea (CSA) is characterized by repetitive disruptions in airflow during sleep due to impaired central respiratory drive. Multiple studies have described an increased incidence of sleep disordered breathing after lung transplantation. However, these studies implicate obstructive sleep apnea as the primary sleep disturbance related to post-transplant weight gain, increased neck circumference, and fluid retention from immunosuppressive therapy. We report an uncommon presentation of new onset severe central predominant sleep apnea in a bilateral lung transplant recipient.

Report of case(s)

A 61-year-old female with a history of end stage COPD with chronic hypoxic respiratory failure status post bilateral lung transplantation in 2020 presented to sleep medicine clinic with several months of witnessed apneic episodes, excessive daytime sleepiness, morning headaches, and insomnia. Physical exam was notable for an increased body mass index (BMI) of 35 kg/m² from pre-transplant BMI of 29 kg/m². Epworth Sleepiness Scale was 15, compared to 4 prior to transplant. Polysomnogram showed an apnea hypopnea index (AHI) of 94.5 events/hour with central AHI of 54.6, consistent with severe central predominant sleep apnea. Titration on CPAP at 5 cmH2O and 7 cmH2O improved the AHI to 13.3 and 20.3, respectively, with residual central hypopneas. On follow-up, downloaded therapy data revealed a residual AHI of 23.3 on CPAP at 5 cmH2O and 1.5 L/min O2, suggesting the need for a BiPAP/ASV titration study if control remains suboptimal.

Conclusion

Common etiologies of CSA include heart failure with Cheyne-Stokes respirations, neurologic disease, high altitude, and the use of centrally acting medications. This patient did not have clearly identifiable risk factors. Pre- and post-transplant echocardiograms showed preserved left ventricular function with no regional wall motion abnormalities. She lacks history of neurologic disease or narcotic use, and her current immunosuppressive regimen has not been linked to worsened sleep apnea. Proposed pathogenesis of CSA in lung transplant recipients include abnormalities in respiratory mechanics due to pulmonary denervation and altered chemoreceptor sensitivity. Prompt diagnosis and treatment of sleep disordered breathing is crucial in organ transplant recipients to prevent adverse cardiovascular outcomes. Thus, further investigation is warranted to better characterize the changes in respiratory parameters that occur after lung transplantation.

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0978 I Cannot Stay Still - A Case of Sleep-Related Rhythmic Movement Disorder
Authors: Alla Rupini , Carter Gregory , Mukkavilli Venkata
Published: May 2023

Introduction

Sleep-related rhythmic movement disorder (SRRMD) is characterized by repetitive rhythmic motor behaviors involving large muscle groups that occur predominantly during stage N1 sleep. SSRMs are common in infants and children but they usually spontaneously resolve before adolescence. This case presents a rare adult case of SRRMD.

Report of case(s)

A 60-year-old man initially presents to clinic for evaluation of repetitive movements needed to initiate sleep. Patient reports the problem starting in his childhood, where he needs to rock and roll intentionally in bed to fall asleep. He had been prescribed clonazepam 2mg and had been taking this along with doxylamine and melatonin nightly, but still reports frequent nocturnal awakenings due to body rolling. He specifically denies any hypnic kicking/jerking, or discomfort in legs while falling asleep. Patient has no excessive alcohol consumption, marijuana, or illicit drug use. Differentials for the patient’s condition include hyperarousal, chronic anxiety, iron deficiency, sleep-related breathing disorder, and rhythmic movement disorder. Patient consequently underwent an in-lab diagnostic polysomnography study which showed no evidence of sleep-related breathing disorders with AHI of 1.6 (AASM 3%). Sleep efficiency was low at 60.8% and sleep architecture showed decreased REM sleep and decreased N3 sleep. Rhythmic movements were noted during sleep and it was manifested by excessive transient muscle activity in both limb & chin EMG leads and also whole body rocking in the video recording. Moderate periodic limb movements were noted with PLM index to 17. Patient was seen in clinic 6 months later with persistent symptoms and his dose of clonazepam was increased slowly to 2.5 mg and then 3 mg. On the 3 mg of clonazepam, patient had resolution of symptoms.

Conclusion

Our case describes a patient who had SRRMs that commenced in childhood persisting well into adulthood. Reported adult cases of SRRMD are few, and have been associated with sleep apnea, REM sleep behavior disorder, and RLS, while many remain idiopathic such as the case with this patient. While benzodiazepines are still first line for SRRMD, further work up and investigation into possible comorbid conditions could yield insight into the etiology and offer alternative treatment options to patients.

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0981 Complex Sleep Apnea in a Patient with ROHHAD
Authors: Ariail Ellen , Hsu Daniel
Published: May 2023

Introduction

Rapid onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare disorder associated with sleep disordered breathing. Patients often have obstructive sleep apnea (OSA) and nocturnal hypoventilation (NH). We present a case with a unique sleep disordered breathing pattern demonstrating both severe central and obstructive sleep apnea demonstrated on two separate polysomnograms with no evidence of significant NH.

Report of case(s)

The patient is a now 8 year old girl who was initially diagnosed with ROHHAD in October 2020 at age 5 years with symptoms of rapid weight gain, hypothalamic dysfunction (hyperprolactinemia), and autonomic dysfunction (recurrent fever, and hypertension). Diagnostic polysomnography in May 2020 demonstrated severe OSA (oAHI 23.4/hr) as well as central sleep apnea (CAI 63.9/hr). The SaO2 nadir was 88% with 15 minutes spent below 90%. There was no evidence of NH, however the CO2 was greater than 50 mmHg for 9.5% of total sleep time. Subsequent titration study recommended BPAP ST of 14/10 cmH20 with back up rate (BUR) of 12 bpm. The patient had a repeat split night study in May of 2022 at age 7 years. During the diagnostic portion, she demonstrated persistent severe OSA (oAHI 39/hr) and central sleep apnea (CAI 21/hr). There was no evidence of NH with a max TCO2 of 50 mmHg and CO2 > 50 mmHg for 0.2% of total sleep time. BPAP ST of 18/10 cmH20 with BUR of 12 bpm led to resolution of obstructive and central apnea events.

Conclusion

ROHHAD remains a rare disease which is often associated with sleep disordered breathing. While there have been rare reports of CSA in ROHHAD, there have been none of this severity. CSA may be a representation of autonomic dysfunction, and previous literature has described central pauses in breathing in ROHHAD patients while awake. While she did not have evidence of hypoventilation on either polysomnogram, which is one of the hallmarks of this disease, it has been described that nocturnal hypoventilation may develop later in the course of the disease. Thus, it remains important to routinely screen patients with polysomnograms as their sleep disordered breathing evolves.

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0982 Atrial fibrillation diagnosed from a home-based sleep study in a patient with REM behavior disorder
Authors: Asgarli Aygun , Liu Junjie
Published: May 2023

Introduction

Atrial fibrillation (A-Fib) is the most common form of cardiac arrhythmia and is a major cause of stroke. Obstructive sleep apnea (OSA) is an established risk factor of A-Fib, but sleep disruption with frequent awakenings was recently identified as another risk factor, independent from OSA. Home sleep apnea test (HSAT) is widely used to diagnose OSA with low cost and short wait time, and HSAT that uses peripheral arterial tonometry (PAT) can reveal cardiac arrhythmia. Here we report a case of A-Fib detected by PAT-based HSAT in a patient with REM sleep disorder.

Report of case(s)

A 60-year-old man with hypertension, depression, anxiety, tobacco and alcohol use disorders presented to sleep clinic for frightening vivid dreams and violent dream enactments that gradually developed over the last two years. A diagnostic polysomnography study showed mild OSA, normal heart rhythm, and no epoch of REM sleep without atonia (RSWA). In the following four years, he used CPAP therapy, imagery rehearsal therapy, high-dose melatonin, doxepin and hydroxyzine. However, the frightening dreams and dream enactments persisted despite full adherence to CPAP. To reassess OSA, the patient took a PAT-based HSAT, which showed not only mild OSA, but one episode of irregularly irregular PAT-derived pulsation variations that lasted three hours and started and stopped abruptly. We therefore ordered longitudinal cardiac monitoring, which showed multiple asymptomatic episodes of A-Fib during nighttime. After treatments for A-Fib were started, a polysomnography study with effective CPAP titration showed one episode of A-Fib with rapid ventricular response that lasted 2.5 hours during non-REM sleep, and multiple epochs of RSWA. The diagnosis of REM sleep behavior disorder (RBD) was thus established.

Conclusion

We reported concurrent developments of RBD and asymptomatic paroxysmal A-Fib in a man in his early sixties. Our case suggests a potential association between RBD and A-Fib, which has not been studied but is conceivable, given that RBD causes frequent awakenings with surges of sympathetic activity. Our case also highlights the advantage of PAT in capturing not only OSA but cardiac arrhythmia. Clinical interpreters of PAT-based HSAT can seize the opportunity to diagnose A-Fib and prevent stroke.

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0988 Vagal Nerve Stimulation and OSA
Authors: Rodríguez Astrid Carrión , Chang Melisa , Padilla Alfonso
Published: May 2023

Introduction

We present a case of obstructive sleep apnea (OSA) worsened by implantation of a vagal nerve stimulator (VNS). A 22-year-old M with PMH of autism and refractory epilepsy s/p VNS implantation was diagnosed with moderate OSA. His parents noted that his sleep-disordered breathing worsened after VNS implantation. He was started on APAP 4-12 cm H2O. Review of adherence data revealed an elevated residual apnea-hypopnea index (AHI) despite nightly usage. PAP titration study was obtained with improvement of AHI on 16 cm H2O. Despite consequent use of determined pressure settings, residual AHI remained elevated. In consultation with the patient’s neurologist, VNS settings were gradually down titrated. Residual AHI improved and remained low as CPAP settings were subsequently weaned.

Report of case(s)

The vagus nerve is part of the parasympathetic nervous system. Afferent fibers project to cortical regions involved in seizure activity. Vagal nerve activation leads to desynchrony, thereby decreasing seizure activity.3 VNS, an adjunctive non-pharmacologic treatment of refractory epilepsy, consists of a generator with multiple adjustable settings and a lead connected to the left vagus nerve.1 VNS activation, in conjuction with medical therapy, can lead to decreased seizures. However, VNS may cause complications such as vocal cord dysfunction, laryngeal spasm, and dyspnea.2 In this case, VNS was noted to cause OSA due to increased airway obstruction, though the pathophysiological mechanism behind this has not been clearly delineated. 3

Conclusion

Based on current evidence of precipitation or worsening OSA with VNS activation, screening and diagnostic testing for OSA in patients under evaluation for VNS placement should be considered. A multidisciplinary approach between Sleep Medicine and Neurology in conjunction with patient goals can lead to a balanced optimization of both epilepsy and OSA management via adjustments of VNS settings, anti-epileptics, and CPAP.

Support (if any)

1. VNS therapy epilepsy. Epilepsy Foundation. https://www.epilepsy.com/sites/default/files/atoms/files/516VNS_VNS_FINAL.pdf. December 20, 2022. 2. Ebben MR, Sethi NK, Conte M, Pollak CP, Labar D. Vagus nerve stimulation, sleep apnea, and CPAP titration. J ClinSleepMed. 2008 Oct 15;4(5):471-3. PMID: 18853706. 3. Parhizgar F, Nugent K, Raj R. Obstructive sleep apnea and respiratory complications associated with vagus nerve stimulators. J ClinSleepMed. 2011 Aug 15;7(4):401-7. doi: 10.5664/JCSM.1204. PMID: 21897779.
0990 Obstructive Sleep Apnea in Patient with White-Sutton Syndrome Presenting with Secondary Polycythemia
Authors: Cocozza Victoria , Kim David , Hansen Shana
Published: May 2023

Introduction

White-Sutton syndrome is a rare autosomal dominant genetic disorder associated with POGZ de novo genetic variants. Patients with White-Sutton syndrome experience a wide spectrum of disease most common being neurocognitive delays, however various sleep disturbances have also been reported. The incidence of obstructive sleep apnea in patients with White-Sutton syndrome has been previously only defined in cohort studies utilizing subjective screening questionnaires.

Report of case(s)

We present a case of a 14-year-old male with past medical history of White-Sutton Syndrome who was referred to the sleep clinic by Pediatric Hematology-Oncology for an evaluation of sleep disordered breathing as part of a secondary polycythemia work-up. Patient’s height was 173.6 cm, weight was 111.8 kg, and BMI was 37.1. Patient’s prior laboratory work-up was remarkable for polycythemia with hematocrit of 50.5% and hemoglobin of 16.8 g/dL. He also had a reassuring bicarbonate level of 22 and no documented daytime oxygen desaturations. The PSG was scored using adult criteria due to the patient’s height and weight. He was diagnosed with moderate obstructive sleep apnea with an apnea-hypopnea index (AHI) of 15.5 per hour and a nadir oxygenation saturation of 89%.

Conclusion

To the author’s knowledge, this is the first case report of a pediatric patient with White-Sutton syndrome with diagnosed obstructive sleep apnea via polysomnography. This is also the first case report of a pediatric patient undergoing polycythemia work-up who was subsequently diagnosed with obstructive sleep apnea.

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0992 Reversible Pediatric Central Sleep Apnea in Hyperhomocysteinemia and Cerebral Sinus Venous Thrombosis
Authors: Coughlin Kevin , Saha Anand , Francis Natalie , Stanton Crystal , Bashir Ahsan
Published: May 2023

Introduction

Pediatric central sleep apnea (CSA) rarely initially presents in adolescent age groups, being more commonly diagnosed in infants. CSA may result from a multitude of neurological insults, such as stroke and brain masses. It may also less often present in metabolic and non-ischemic thrombotic disorders.

Report of case(s)

A 12-year-old female with history of global developmental delay of unclear etiology, chronic headaches, insulin resistance, and early morning tremors was referred for initial evaluation of possible narcolepsy. Severe daytime sleepiness had acutely worsened over the previous month. She was unable to stay awake during school, despite sleeping 13 hours per 24 hours. Central hypersomnia was suspected and polysomnogram with MSLT was scheduled. The patient presented to the Emergency Department 10 days later for worsening headaches and new oral aversion with 12-pound weight loss. Examination showed ataxic gait and dysarthria. Brain MRI revealed non-occlusive cerebral sinus venous thrombosis (CSVT) involving the superior sagittal sinus, right transverse sinus, right sigmoid sinus, right jugular bulb/vein, and cortical veins overlying both cerebral hemispheres with no stroke. Anticoagulation with enoxaparin was initiated and thrombophilia work-up commenced. Polysomnogram demonstrated a central AHI of 49.9/hr with significant periodic breathing and no obstructive sleep apnea. Oxygen titration sleep study failed to significantly improve CSA and BPAP was initiated. Thrombophilia work-up revealed severe hyperhomocysteinemia. Genetic analysis was consistent with autosomal recessive severe methylenetetrahydrofolate reductase (MTHFR) deficiency. The patient was begun on metabolic treatment with betaine, pyridoxine, hydroxocobalamin, and vitamin C, and transitioned to oral rivaroxaban. At 4 months, blood levels had normalized, and MRI demonstrated resolution of CSVT. Family endorsed BPAP compliance and complete resolution of all sleep symptoms. In addition, there was significant improvement in cognition, interpersonal skills, and abstract thought. Follow up polysomnogram 10 months after presentation demonstrated no CSA nor periodic breathing.

Conclusion

To our knowledge, this is the first report of MTHFR deficiency and CSVT resulting in severe CSA. While it is difficult to ascertain which entity ultimately caused the CSA, MTHFR deficiency can produce significant neurologic impairment through white matter disease and defective myelination, while CSVT can provoke venous hypertension, venous stasis, or hypoxia.

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0999 A dramatic response to sleeve gastrectomy in a patient with severe obstructive sleep apnea
Authors: Hart Stephanie , Tobias Lauren
Published: May 2023

Introduction

Obesity is a well-established major, yet modifiable risk factor for the development of obstructive sleep apnea (OSA). Weight loss has consistently been associated with improvement in OSA severity. Here, we present a case of a patient with morbid obesity and severe OSA who underwent bariatric surgery, which resulted in complete resolution of sleep apnea.

Report of case(s)

A 31-year-old woman with a history of morbid obesity (body mass index (BMI) 54kg/m²) and diabetes mellitus was seen in the sleep disorders clinic with symptoms of loud snoring, gasp awakenings, fragmented sleep, and excessive daytime sleepiness with an Epworth sleepiness score (ESS) of 18. Polysomnography (PSG) demonstrated severe OSA with an apnea-hypopnea index (AHI) of 129/hr, mean arterial oxygen saturation (SaO2) of 85%, and nadir SaO2 of 52%. Continuous positive airway pressure (CPAP) was prescribed but never started. One year later, she returned requesting treatment for OSA as part of evaluation for bariatric surgery. A split-night PSG re-demonstrated severe OSA with AHI 60/hr and nadir SaO2 of 51% with 54% of total sleep time spent with SaO2 less than 88%, and a good response to CPAP 14cmH2O with residual AHI 4/hr. CPAP was started and she demonstrated excellent adherence on follow up. Three years lapsed before she returned to the sleep clinic. During this time, she had undergone a sleeve gastrectomy and was successful at losing 156lbs (achieving BMI 31kg/m²). She reported resolution of snoring and daytime sleepiness with ESS of 1. She stopped using CPAP six months after surgery and wished to be re-evaluated for OSA. Repeat PSG showed no evidence of OSA with AHI 1/hr and SaO2 nadir of 91%.

Conclusion

Bariatric surgery is considered the most effective treatment for obesity and is indicated for patients with BMI 35kg/m² or greater with comorbid OSA. Although observational and randomized studies of weight reduction surgery have shown improvement in OSA severity post-operatively and even cure in some cases, few patients exhibit the extreme reduction in AHI seen here, with complete resolution of OSA. This case serves as an important reminder that weight loss should be a priority when managing patients with OSA and excess body weight.

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1003 Immediate Improvement of Second Degree Heart Block With Effective Treatment of Sleep-Disordered Breathing
Authors: Islam Muhtadi , Eiser Alan , Chervin Ronald
Published: May 2023

Introduction

Cardiac arrhythmia and heart block in particular is commonly found in association with obstructive sleep apnea (OSA). Here we describe real-time responsivity of 2nd degree heart block to treatment of OSA with positive airway pressure (PAP) during a titration study.

Report of case(s)

Our patient is a 70-year old man without significant cardiovascular disease. He presented with loud snoring and excessive daytime sleepiness. A home sleep apnea test in July 2020 revealed obstructive sleep apnea (respiratory event index 20, oxygen saturation nadir 86%). The patient was treated with auto-adjusting continuous positive airway pressure (APAP) and had symptomatic benefit. His most recent machine data download suggested an elevated residual respiratory event index (REI) of 19.6, 16.5 of which were central. A split-night study was performed to re-characterize the nature of the patient’s obstructive sleep apnea and treatment needs. The baseline portion of the study (AHI 50.8, oxygen saturation nadir 86%) was notable for the presence of frequent 2nd degree heart block (171.0 events/hour of recording). During the titration portion of the study, frequent central sleep apneas emerged with the addition of PAP therapy, consistent with treatment-emergent central sleep apnea. The patient was transitioned to bilevel positive airway pressure spontaneous timed mode (BPAP ST), and a pressure setting of 13/6 cm of water with backup rate of 14 breaths per minute effectively controlled his sleep-disordered breathing. The heart block that had been observed during the baseline portion of the study dramatically improved with the start of BPAP ST. Once the patient’s sleep-disordered breathing was controlled, the patient’s heart block occurred at a rate of only 12.1 events/hour of recording.

Conclusion

Treatment of sleep apnea has been established to be beneficial for the improvement of cardiac arrhythmias. This case is remarkably instructive in that attainment of an effective treatment setting for sleep-disordered breathing resulted in an almost immediate improvement of heart block.

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1005 The hunt for solutions to daytime sleepiness in the setting of treated obstructive sleep apnea
Authors: Kalathil Josin , Kuehnel Aubrey , Greenough Glen
Published: May 2023

Introduction

There is a possible association between OSA and vitamin D deficiency (Neighbors 2018). Vitamin D deficiency is associated with fatigue and excessive daytime sleepiness (EDS) (Bouloukaki 2022). Vitamin D deficiency might play a role in the residual fatigue or sleepiness seen in some patients with treated OSA.

Report of case(s)

We present a 28 year old female with RLS, anxiety and mild OSA with persistent daytime fatigue and sleepiness despite optimal treatment of OSA. She was evaluated for OSA via a HST due to symptoms of snoring, overnight awakenings, non-restorative sleep, and EDS (Epworth Sleepiness Scale (ESS) of 11/24). The HST revealed mild OSA (REI 4% of 11). Bloodwork revealed a ferritin of 31 ng/mL. She was treated with autoPAP 5-15 cm and daily ferrous sulfate 325 mg. At follow-up she reported significant improvement in her RLS. Repeat ferritin level was 59 ng/ml and continued iron supplementation was recommended. Despite 98% (40/41 days) compliance and effective treatment of OSA with residual AHI of 0.9, she continued to report persistent daytime fatigue and EDS. Given the residual symptoms we checked a vitamin D level which was reduced at 7 ng/mL (21-100 ng/mL).

Conclusion

We identified in the sleep medicine literature a case report of a 28 yo patient with EDS who had significant improvement in symptoms after her vitamin D deficiency (5.9 ng/mL) was treated. This woman had improvement in her ESS from 10/24 to 1/24 (McCarty 2010). This patient, however, did not have OSA which was the case with our patient. This report speculated that a possible mechanism for clinical improvement could include enhanced sleep quality due to resolution of hypovitaminosis D-associated non-inflammatory myopathy, or a possible immunomodulatory effect of vitamin D decreasing central nervous system homeostatic sleep pressure. Residual fatigue and EDS in the treatment of OSA may have multiple causes for which a comprehensive approach can help identify and treat the underlying cause.

Support (if any)

Vitamin D and obstructive sleep apnea: a systematic review and meta-analysis(Neighbors 2018) Vitamin D levels in primary care patients: correlations with clinical, seasonal, and quality-of-life parameters(Bouloukaki 2022) Resolution of Hypersomnia Following Identification and Treatment of Vitamin D Deficiency(McCarty 2010)
1006 How Insomnia Masked a Young Man's First Episode Psychosis
Authors: Kim Jeffrey , Pakniyat-Jahromi Soroush , Mitra Souparno , Grover Shana , Gunturu Sasidhar
Published: May 2023

Introduction

Sleep disturbance is a common sign across many mental health disorders. Particularly, insomnia is a frequent issue among patients with mood disorders. However, there is increasing evidence that suggests that sleep disturbance may be a risk factor for developing psychosis, or conversely, an early warning sign of psychosis. In this case report, we describe a young patient’s first episode of psychosis, which was masked by an initial presentation of insomnia, diagnosed as major depressive disorder, and the patient decompensated further until his psychosis was appropriately diagnosed and treated.

Report of case(s)

A 20-year-old African-American male was evaluated at a major tertiary hospital after he was found calling his mother while crying and speaking incoherently. He was eventually admitted there for two weeks with the diagnosis of Major Depressive Disorder, and discharged on Bupropion 300 milligrams(mg) daily for depression, with Quetiapine 50mg and Trazodone 100mg at night for sleep. Following discharge from this hospital, the patient’s psychiatric history was significant only for one additional outpatient psychiatry clinic visit at a major community hospital, where he was again diagnosed with Major Depressive Disorder, and prescribed Zoloft 25mg daily. The patient eventually presented to our hospital with reports of worsening depression, poor sleep, poor appetite, and more recently, increasingly bizarre behavior. The patient initially presented to the unit disorganized (nursing staff frequently described patient as looking "lost"), staring blankly at the walls, internally preoccupied and laughing inappropriately as if responding to internal stimuli. Patient had episodes of emotional outbursts with aggression and bizarre behavior that required emergent medication. The patient’s Bupropion was discontinued in favor of oral Risperidone, titrated up to 4mg twice daily. Patient’s symptoms, including his sleep, gradually improved with the single antipsychotic regimen, and was eventually discharged after returning to his baseline. Patient was also evaluated by a clinical psychology team who also supported the assessment of first episode of psychosis.

Conclusion

This case highlights the importance of evaluating sleep disturbances in accurately diagnosing mental disorders. Studies show sleep is an important risk factor in the precipitation of many mental illnesses, while sleep disturbances are also frequently resolved by treating the underlying mental illness.

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1007 Excessive REM Without Atonia in Adult Trisomy 21 Patient
Authors: Kuehnel Aubrey , Colvert Jared , Kalathil Josin
Published: May 2023

Introduction

REM sleep without atonia (RSWA) is associated with synucleinopathy neurodegenerative disorders; however, poorly described in other neurodegenerative disorders. We present an adult with trisomy 21, associated with higher risk of Alzheimer’s, with elevated REM percentage and RSWA.

Report of case(s)

37-year-old with Trisomy 21 and reported compliance on CPAP, prescribed ropinirole 0.25mg, clomipramine 50mg qHS and sertraline 100mg, underwent titration study to ensure OSA control in setting of worsened insomnia, restless sleep and nightmares. Reported nightmares starting after hospitalization year prior; patient couldn’t remember dreams, but felt they were “bad”. Denied dream enactment but moved a lot in his sleep and his dog no longer would sleep with him. Study found significantly elevated REM at 49.8%. Of 484 epochs of REM, 38% met RSWA with excessive transient muscle activity in REM based on AASM Manual for Scoring of Sleep and Associated Events(V2.6). OSA remained controlled throughout study near currently prescribed pressures, overall CMS AHI 2.7 (diagnostic in 2009 with CMS AHI 53.7).

Conclusion

Adult Trisomy 21 patient with excessive phasic activity during REM of unknown cause, no reported dream enactment. As patient’s dog no longer willing to co-sleep, could question if related to excessive movement. While patient is on sertraline, known to increase RSWA(1), the amount of excessive REM meeting RSWA criteria makes us question for this to be sole cause. Despite lack of dream recall, felt were “bad” since hospitalization, raising Trauma-associated sleep disorder as possibility. However, lack of autonomic hyperarousal and inability to confirm dreams related to trauma makes less likely(2). Limited studies of adult Trisomy 21 patients noted findings of RSWA(1). Currently there’s established association with RBD, most well studied form of RSWA, and synucleinopathy neurodegenerative disorders. Rarely studies report RBD phenoconverting into Alzheimer’s disease(1). While known association with Alzheimer’s and Trisomy 21, frequency of Trisomy 21 and other neurodegenerative disorders is less established. As this population ages, close monitoring for development of neurodegenerative disorders is needed.

Support (if any)

(1)Baltzan M. Dream enactment behavior: review for the clinician. 2020 (2)Barone D. Dream enactment behavior-a real nightmare: a review of post-traumatic stress disorder, REM sleep behavior disorder and trauma-associated sleep disorder. 2020
1010 Cheyne-Stokes Respiration in a Full term Infant Post ECMO Resuscitation
Authors: Mandal Yutika , Martinez-Fernandez Tanya , Basora Elisa
Published: May 2023

Introduction

Cheyne-Stokes Respiration (CSR) is a form of central sleep apnea (CSA) characterized by periods of hyperventilation and apneas or hypopneas. This is a case of a full-term neonate who presented with acute respiratory failure, requiring ECMO, secondary to late-onset sepsis with Legionella infection. Polysomnography (PSG) obtained post ECMO decannulation showed apneas with CSR. This is a rare finding in neonates and the causes, prevalence, progression, and outcomes of CSA-CSR in pediatric population remains unclear.

Report of case(s)

A 3-week-old full term male infant with no perinatal complications, presented in acute respiratory failure, following an apneic event at home that required resuscitation. He was intubated and placed on VA-ECMO due to hemodynamic instability for a period of 7 days. Extensive sepsis work-up revealed Legionella infection for which he was appropriately treated. Post decannulation he continued to require oxygen support for a prolonged period, with notable desaturations during sleep. PSG showed severe obstructive sleep apnea (oAHI 37/hr) and central sleep apnea (CAI 20/hr) with the unusual finding of CSR, almost throughout the study. Oxygen titration was done and 0.5L of oxygen via nasal cannula showed marked decrease in OSA(oAHI 7/hr) and CSA(CAI 2/hr). Given these PSG findings echocardiography and brain MRI were obtained and were both normal. CT scan of chest showed diffuse pulmonary edema, hence the patient was started on diuretics. After 3 weeks of diuretic therapy, repeat PSG demonstrated complete resolution of CSA-CSR. Patient was discharged home with nighttime oxygen.

Conclusion

CSR has been associated with heart failure and stroke in adults resulting in unstable control of breathing. In Pediatrics, CSA-CSR has been predominantly described only in premature infants. Our patient was a full-term neonate who had a complicated course with rare Legionella and ECMO leading to severe pulmonary disease including pulmonary edema. We postulate that CSR was secondary to the latter due to positive diuretic response.

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