Polysomnography findings and respiratory muscle function in infants with early onset spinal muscular atrophy after gene replacement as monotherapy: A prospective study.

BACKGROUND: Gene replacement therapy (onasemnogene abeparvovec) is associated with an improvement of the prognosis of children with spinal muscular atrophy, but information on long-term respiratory outcome is scarce. The aim of this study was to report the polysomnography findings and respiratory muscle function of infants with treatment-naive spinal muscular atrophy type 1 and 2 up to 24 months after onasemnogene abeparvovec monotherapy. METHODS: A clinical and motor evaluation, respiratory muscle function testing, and polysomnography were performed repeatedly. RESULTS: Fifteen spinal muscular atrophy patients (1 presymptomatic, 7 type 1b, 6 type 1c, and 1 type 2) were included at a median age of 8.6 months (range 3.8-12.6) and followed for 24 months. The thoracic over head circumference ratio was close to normal at baseline (median 1.00 (range 0.90-1.05)) and increased significantly over time. All polysomnography and nocturnal gas exchange parameters were within normal ranges at baseline (median apnea-hypopnea index 2.5 events/hour (range 0.4-5.3)) and follow-up. The inspiratory muscle strength was normal at baseline but tended to slightly decrease over time and the expiratory muscle strength was low at any time especially for patients with recurrent respiratory infections (median (range) at baseline in cmH2O: crying esophageal pressure 54 (30-110), crying transdiaphragmatic pressure 65 (35-107), gastric pressure during maximal cough 26 (10-130), esophageal pressure during maximal cough 61 (38-150)). Only 3 patients required noninvasive ventilation. CONCLUSION: A continuous respiratory monitoring of spinal muscular atrophy patients during the first years of life following onasemnogene abeparvovec monotherapy seems recommended despite the normality of polysomnography parameters.

Expert-level sleep staging using an electrocardiography-only feed-forward neural network.

Reliable classification of sleep stages is crucial in sleep medicine and neuroscience research for providing valuable insights, diagnoses, and understanding of brain states. The current gold standard method for sleep stage classification is polysomnography (PSG). Unfortunately, PSG is an expensive and cumbersome process involving numerous electrodes, often conducted in an unfamiliar clinic and annotated by a professional. Although commercial devices like smartwatches track sleep, their performance is well below PSG. To address these disadvantages, we present a feed-forward neural network that achieves gold-standard levels of agreement using only a single lead of electrocardiography (ECG) data. Specifically, the median five-stage Cohen's kappa is 0.725 on a large, diverse dataset of 5 to 90-year-old subjects. Comparisons with a comprehensive meta-analysis of between-human inter-rater agreement confirm the non-inferior performance of our model. Finally, we developed a novel loss function to align the training objective with Cohen's kappa. Our method offers an inexpensive, automated, and convenient alternative for sleep stage classification-further enhanced by a real-time scoring option. Cardiosomnography, or a sleep study conducted with ECG only, could take expert-level sleep studies outside the confines of clinics and laboratories and into realistic settings. This advancement democratizes access to high-quality sleep studies, considerably enhancing the field of sleep medicine and neuroscience. It makes less-expensive, higher-quality studies accessible to a broader community, enabling improved sleep research and more personalized, accessible sleep-related healthcare interventions.

Quantitative validation of the suprasternal pressure signal to assess respiratory effort during sleep.

Objective Intra-esophageal pressure (Pes) measurement is the recommended gold standard to quantify respiratory effort during sleep, but used to limited extent in clinical practice due to multiple practical drawbacks. Respiratory inductance plethysmography belts (RIP) in conjunction with oronasal airflow are the accepted substitute in polysomnographic systems (PSG) thanks to a better usability, although they are partial views on tidal volume and flow rather than true respiratory effort and are often used without calibration. In their place, the pressure variations measured non-invasively at the suprasternal notch (SSP) may provide a better measure of effort. However, this type of sensor has been validated only for respiratory events in the context of obstructive sleep apnea syndrome (OSA). We aim to provide an extensive verification of the suprasternal pressure signal against RIP belts and Pes, covering both normal breathing and respiratory events. Approach We simultaneously acquired suprasternal (207) and esophageal pressure (20) signals along with RIP belts during a clinical PSG of 207 participants. In each signal, we detected breaths with a custom algorithm, and evaluated the SSP in terms of detection quality, breathing rate estimation, and similarity of breathing patterns against RIP and Pes. Additionally, we examined how the SSP signal may diverge from RIP and Pes in presence of respiratory events scored by a sleep technician. Main results The SSP signal proved to be a reliable substitute for both esophageal pressure (Pes) and respiratory inductance plethysmography (RIP) in terms of breath detection, with sensitivity and positive predictive value exceeding 75 %, and low error in breathing rate estimation. The SSP was also consistent with Pes (correlation of 0.72, similarity 80.8 %) in patterns of increasing pressure amplitude that are common in OSA. Significance This work provides a quantitative analysis of suprasternal pressure sensors for respiratory effort measurements.

Performance evaluation of portable respiratory polygraphy for assessing sleep bruxism in adults.

BACKGROUND: Polysomnography (PSG) is the gold standard for sleep bruxism (SB) assessment, it is expensive, not widely accessible, and time-consuming. OBJECTIVE: Given the increasing prevalence of SB, there is a growing need for an alternative, readily available, reliable and cost-effective diagnostic method. This study aimed to evaluate the diagnostic validity of portable respiratory polygraphy (PRPG) compared with PSG for SB diagnosis. METHODS: One hundred and three subjects underwent simultaneous examinations using PRPG (NOX T3, NOX Medical) and PSG (NOX A1, NOX Medical) in a sleep laboratory. RESULTS: The mean Bruxism Episodes Index (BEI) measured by PRPG was 4.70 ± 3.98, whereas PSG yielded a mean BEI of 3.79 ± 3.08. The sensitivity for detecting sleep bruxism (BEI >2) by PRPG was 48.3%, with a specificity of 81.2%. The positive predictive value was estimated at 51.9%, and the negative predictive value at 78.9%. However, when distinguishing between mild bruxism (BEI >2 < 4) and severe bruxism (BEI >4), PRPG demonstrated a sensitivity of 77.8% and 68.3% and a specificity of 48.6% and 71.4%, respectively. CONCLUSION: Polysomnography continues to be the SB diagnostic gold standard tool, as the sensitivity and specificity of PRPG are significantly lower when compared with PSG. Nevertheless, PRPG could serve as an alternative tool for SB screening or diagnosis, despite its limitations. Furthermore, our data indicate that comorbidities such as sleep apnea and sleep quality do not influence the diagnostic accuracy of PSG, suggesting its potential as a screening instrument in individuals with other sleep disorders.

Is sleep bruxism in obstructive sleep apnea only an oral health related problem?

BACKGROUND: The etiology of sleep bruxism in obstructive sleep apnea (OSA) patients is not yet fully clarified. This prospective clinical study aimed to investigate the connection between probable sleep bruxism, electromyographic muscle tone, and respiratory sleep patterns recorded during polysomnography. METHODS: 106 patients with OSA (74 males, 31 females, mean age: 56.1 ± 11.4 years) were divided into two groups (sleep bruxism: SB; no sleep bruxism: NSB). Probable SB were based on the AASM criteria: self-report of clenching/grinding, orofacial symptoms upon awakening, abnormal tooth wear and hypertrophy of the masseter muscle. Both groups underwent clinical examination for painful muscle symptoms aligned with Temporomandibular Disorders Diagnostic Criteria (DC/TMD), such as myalgia, myofascial pain, and headache attributed to temporomandibular disorder. Additionally, non-complaint positive muscle palpation and orofacial-related limitations (Jaw Functional Limited Scale-20: JFLS-20) were assessed. A one-night polysomnography with electromyographic masseter muscle tone (EMG) measurement was performed. Descriptive data, inter-group comparisons and multivariate logistic regression were calculated. RESULTS: OSA patients had a 37.1% prevalence of SB. EMG muscle tone (N1-N3, REM; P = 0.001) and the number of hypopneas (P = 0.042) were significantly higher in the sleep bruxism group. While measures like apnea-hypopnea-index (AHI), respiratory-disturbance-index (RDI), apnea index (AI), hypopnea-index (HI), number of arousals, and heart rate (1/min) were elevated in sleep bruxers, the differences were not statistically significant. There was no difference in sleep efficiency (SE; P = 0.403). Non-complaint masseter muscle palpation (61.5%; P = 0.015) and myalgia (41%; P = 0.010) were significant higher in SB patients. Multivariate logistic regression showed a significant contribution of EMG muscle tone and JFLS-20 to bruxism risk. CONCLUSION: Increased EMG muscle tone and orofacial limitations can predict sleep bruxism in OSA patients. Besides, SB patients suffer more from sleep disorder breathing. Thus, sleep bruxism seems to be not only an oral health related problem in obstructive apnea. Consequently, interdisciplinary interventions are crucial for effectively treating these patients. TRIAL REGISTRATION: The study was approved by the Ethics Committee of Philipps-University Marburg (reg. no. 13/22-2022) and registered at the "German Clinical Trial Register, DRKS" (DRKS0002959).

"Counting sheep PSG": EEGLAB-compatible open-source matlab software for signal processing, visualization, event marking and staging of polysomnographic data.

BACKGROUND: Progress in advancing sleep research employing polysomnography (PSG) has been negatively impacted by the limited availability of widely available, open-source sleep-specific analysis tools. NEW METHOD: Here, we introduce Counting Sheep PSG, an EEGLAB-compatible software for signal processing, visualization, event marking and manual sleep stage scoring of PSG data for MATLAB. RESULTS: Key features include: (1) signal processing tools including bad channel interpolation, down-sampling, re-referencing, filtering, independent component analysis, artifact subspace reconstruction, and power spectral analysis, (2) customizable display of polysomnographic data and hypnogram, (3) event marking mode including manual sleep stage scoring, (4) automatic event detections including movement artifact, sleep spindles, slow waves and eye movements, and (5) export of main descriptive sleep architecture statistics, event statistics and publication-ready hypnogram. COMPARISON WITH EXISTING METHODS: Counting Sheep PSG was built on the foundation created by sleepSMG (https://sleepsmg.sourceforge.net/). The scope and functionalities of the current software have made significant advancements in terms of EEGLAB integration/compatibility, preprocessing, artifact correction, event detection, functionality and ease of use. By comparison, commercial software can be costly and utilize proprietary data formats and algorithms, thereby restricting the ability to distribute and share data and analysis results. CONCLUSIONS: The field of sleep research remains shackled by an industry that resists standardization, prevents interoperability, builds-in planned obsolescence, maintains proprietary black-box data formats and analysis approaches. This presents a major challenge for the field of sleep research. The need for free, open-source software that can read open-format data is essential for scientific advancement to be made in the field.

Relationship between Sleep Bruxism Determined by Non-Instrumental and Instrumental Approaches and Psychometric Variables.

Sleep bruxism (SB) can be determined with different diagnostic procedures. The relationship between psychometric variables and SB varies depending on the diagnostic method. The aim of the study was to compare the association between SB and oral health-related quality of life (OHRQoL; measured by the Oral Health Impact Profile, OHIP), anxiety (measured by the State-Trait anxiety inventory, STAI), and stress (single scale variable) depending on the diagnostic method in the same sample. N = 45 participants were examined by non-instrumental (possible/probable SB) and instrumental methods (definite SB). The OHIP differed significantly between possible SB (median = 4) and non-SB (median = 0) with W = 115, p = 0.01, and probable SB (median = 6) and non-SB (median = 0) with W = 101, p = 0.01). There was no significant difference in the OHIP score between definite SB and non-SB. For the other psychometric variables, the analyses revealed no significant differences between SB and non-SB in all diagnostic procedures. The results suggest that there is a difference between possible/probable and definite SB with respect to the association with OHRQoL. Certain aspects of possible/probable SB might be responsible for the poor OHRQoL, which are not measured in definite SB.

Prevalence and Characteristics of Patients with Obstructive Sleep Apnea and Chronic Obstructive Pulmonary Disease: Overlap Syndrome.

Overlap syndrome (OVS) is a distinct clinical entity that seems to result in potential cardiovascular consequences. We aimed to estimate the prevalence and risk factors for OVS in OSA patients and analyze clinical and PSG characteristics associated with OVS. In this cross-sectional study, 2616 patients evaluated for OSA underwent type-1 polysomnography (PSG). They were grouped as pure OSA (AHI > 15/h) and OVS patients. Demographics, PSG data, pulmonary function tests and arterial blood gases (ABGs) were compared between groups after adjustments for confounders. OSA was diagnosed in 2108 out of 2616 patients. Of those, 398 (19%) had OVS. Independent predictors of OVS were older age [OR: 5.386 (4.153-6.987)], current/former smoking [OR: 11.577 (7.232-18.532)], BMI [OR: 2.901 (2.082-4.044)] and ABG measurements [PaCO2 ≥ 45 OR: 4.648 (3.078-7.019), PO2 [OR: 0.934 (0.920-0.949)], HCO3- [OR: 1.196 (1.133-1.263), all p < 0.001]. OVS was also associated with prevalent hypertension [OR: 1.345 (1.030-1.758), p = 0.03] and cardiovascular disease [OR: 1.617 (1.229-2.126), p < 0.001], depressive symptoms [OR: 1.741 (1.230-2.465), p = 0.002] and nocturia [OR: 1.944 (1.378-2.742), p < 0.001], as well as with indices of OSA severity. Disturbances in sleep architecture were more prominent in OVS expressed by lower %N3 and REM% and higher arousal index. Our data suggest that OVS is prevalent among OSA patients, with distinct clinical and PSG characteristics. These characteristics could be utilized as predictive factors for early identification and further evaluation of these patients towards desirable patient-reported outcomes.

In-Laboratory Polysomnography Worsens Obstructive Sleep Apnea by Changing Body Position Compared to Home Testing.

(1) Background: Home sleep apnea testing, known as polysomnography type 3 (PSG3), underestimates respiratory events in comparison with in-laboratory polysomnography type 1 (PSG1). Without head electrodes for scoring sleep and arousal, in a home environment, patients feel unfettered and move their bodies more naturally. Adopting a natural position may decrease obstructive sleep apnea (OSA) severity in PSG3, independently of missing hypopneas associated with arousals. (2) Methods: Patients with suspected OSA performed PSG1 and PSG3 in a randomized sequence. We performed an additional analysis, called reduced polysomnography, in which we blindly reassessed all PSG1 tests to remove electroencephalographic electrodes, electrooculogram, and surface electromyography data to estimate the impact of not scoring sleep and arousal-based hypopneas on the test results. A difference of 15 or more in the apnea-hypopnea index (AHI) between tests was deemed clinically relevant. We compared the group of patients with and without clinically relevant differences between lab and home tests (3) Results: As expected, by not scoring sleep, there was a decrease in OSA severity in the lab test, similar to the home test results. The group of patients with clinically relevant differences between lab and home tests presented more severe OSA in the lab compared to the other group (mean AHI, 42.5 vs. 20.2 events/h, p = 0.002), and this difference disappeared in the home test. There was no difference between groups in the shift of OSA severity by abolishing sleep scoring in the lab. However, by comparing lab and home tests, there were greater variations in supine AHI and time spent in the supine position in the group with a clinically relevant difference, either with or without scoring sleep, showing an impact of the site of the test on body position during sleep. These variations presented as a marked increase or decrease in supine outcomes according to the site of the test, with no particular trend. (4) Conclusions: In-lab polysomnography may artificially increase OSA severity in a subset of patients by inducing marked changes in body position compared to home tests. The location of the sleep test seems to interfere with the evaluation of patients with more severe OSA.

The impact of cannabis use proximal to sleep and cannabinoid metabolites on sleep architecture.

STUDY OBJECTIVES: Cannabis is a common sleep aid, however the effects of its use prior to sleep are poorly understood. This study aims to determine the impact of non-medical whole plant cannabis use three hours prior to sleep and measured cannabis metabolites on polysomnogram measures. METHODS: This is a cross-sectional study of 177 healthy adults who provided detailed cannabis use history, underwent a one-night home sleep test (HST) and had measurement of eleven plasma and urinary cannabinoids, quantified using mass spectroscopy, the morning after the HST. Multivariable models were used to assess the relationship between cannabis use proximal to sleep, which was defined as use three hours before sleep, and individual HST measurements. Correlation between metabolite concentrations and polysomnogram measures were assessed. RESULTS: In adjusted models, cannabis use proximal to sleep was associated with increased wake after sleep onset (median 60.5 versus 45.8 minutes), rate ratio 1.59 (1.22, 2.05), and increased proportion of stage one sleep (median 15.2% versus 12.3%), effect estimate 0.16 (0.06, 0.25). Compared to non-users, frequent cannabis users (>20 days per month) also had increased wake after sleep onset and stage one sleep, in addition to increased REM latency and decreased percent sleep efficiency. Delta-9 tetrahydrocannabinol metabolites correlated with these HST measures. CONCLUSIONS: Cannabis use proximal to sleep was associated with minimal changes in sleep architecture. Its use wasn't associated with measures of improved sleep including increased sleep time or efficiency and may be associated with poor quality sleep through increase wake onset and stage 1 sleep.

Sleep Delta power, age, and sex effects in treatment-resistant depression.

Electroencephalographic (EEG) deficits in slow wave activity or Delta power (0.5-4 Hz) indicate disturbed sleep homeostasis and are hallmarks of depression. Sleep homeostasis is linked to restorative sleep and potential antidepressant response via non-rapid eye movement (NREM) slow wave sleep (SWS) during which neurons undergo essential repair and rejuvenation. Decreased Low Delta power (0.5-2 Hz) was previously reported in individuals with depression. This study investigated power levels in the Low Delta (0.5-<2 Hz), High Delta (2-4 Hz), and Total Delta (0.5-4 Hz) bands and their association with age, sex, and disrupted sleep in treatment-resistant depression (TRD). Mann-Whitney U tests were used to compare the nightly progressions of Total Delta, Low Delta, and High Delta in 100 individuals with TRD and 24 healthy volunteers (HVs). Polysomnographic parameters were also examined, including Total Sleep Time (TST), Sleep Efficiency (SE), and Wake after Sleep Onset (WASO). Individuals with TRD had lower Delta power during the first NREM episode (NREM1) than HVs. The deficiency was observed in the Low Delta band versus High Delta. Females with TRD had higher Delta power than males during the first NREM1 episode, with the most noticeable sex difference observed in Low Delta. In individuals with TRD, Low Delta power correlated with WASO and SE, and High Delta correlated with WASO. Low Delta power deficits in NREM1 were observed in older males with TRD, but not females. These results provide compelling evidence for a link between age, sex, Low Delta power, sleep homeostasis, and non-restorative sleep in TRD.

The study of the relationship between moderate to severe sleep obstructive apnea and cognitive impairment, anxiety, and depression.

Objective: The present study endeavored to investigate the interconnection between obstructive sleep apnea (OSA) and cognitive function, alongside the manifestations of depression and anxiety. Simultaneously, an analysis was conducted to discern the factors exerting influence upon cognitive function. Methods: A cohort of 102 patients, who had undergone polysomnography (PSG) at Binhu Hospital, Anhui Medical University, between January 2022 and June 2023, was encompassed in the study. Employing the PSG findings, these individuals were classified into two distinct categories: the grouping consisted of those with either negligible or mild OSA, and the other comprised individuals with moderate to severe OSA. Utilizing the Montreal Cognitive Assessment (MoCA-Beijing), Stroop Color and Word Test (SCWT), Digit Span Test (DST), Self-rating Depression Scale (SDS), and Self-rating Anxiety Scale (SAS), scores were recorded and analysed for each of the respective assessments. Additionally, discrepancies and associations between these groups were also scrutinized. Results: The group exhibiting moderate to severe OSA demonstrated significantly elevated measurements in parameters such as neck circumference, BMI, completion times for SCWT-A, B, C, Sleep Inefficiency Index (SIE), SAS, and SDS, in comparison to the No or Mild OSA group. Furthermore, the moderate-severe OSA group manifested notably diminished MoCA scores in areas of visual-spatial and executive function, memory, language, abstraction, delayed recall, orientation, total MoCA score, lowest oxygen saturation (LSaO2), average oxygen saturation, Digit Span Test-backward(DST-b), and Digit Span Test-forward(DST-f), as contrasted with the no-mild OSA group. These inter-group disparities exhibited statistical significance (p < 0.05). The MoCA total score portrayed inverse correlations with age, Apnea-Hypopnea Index (AHI), BMI, SIE, SAS, SDS, CT90%, AHT90%, and Hypoxic Apnea Duration (HAD) (ranging from -0.380 to -0.481, p < 0.05). Conversely, it displayed positive correlations with DST-f, DST-b, LSaO2, and average oxygen saturation (ranging from 0.414 to 0.744, p < 0.05). Neck circumference, AHI, and SAS were autonomously linked to MoCA scores (OR = 1.401, 1.028, 1.070, p < 0.05), while AHI exhibited an independent correlation with SDS and SAS scores (OR = 1.001, p = 0.003). Conclusion: Patients grappling with moderate to severe OSA frequently reveal cognitive impairment and concomitant emotional predicaments encompassing depression and anxiety. These manifestations share an intimate association with AHI, LSaO2, and average oxygen saturation. Notably, anxiety, when coupled with OSA, emerges as an autonomous influential element impinging upon cognitive impairment.

Validation of Downloadable Mobile Snore Applications by Polysomnography (PSG).

Purpose: Obstructive sleep apnea (OSA) is a common breathing disorder during sleep that is associated with symptoms such as snoring, excessive daytime sleepiness, and breathing interruptions. Polysomnography (PSG) is the most reliable diagnostic test for OSA; however, its high cost and lengthy testing duration make it difficult to access for many patients. With the availability of free snore applications for home-monitoring, this study aimed to validate the top three ranked snore applications, namely SnoreLab (SL), Anti Snore Solution (ASS), and Sleep Cycle Alarm (SCA), using PSG. Patients and Methods: Sixty participants underwent an overnight PSG while simultaneously using three identical smartphones with the tested apps to gather sleep and snoring data. Results: The study discovered that all three applications were significantly correlated with the total recording time and snore counts of PSG, with ASS showing good agreement with snore counts. Furthermore, the Snore Score, Time Snoring of SL, and Sleep Quality of SCA had a significant correlation with the natural logarithm of apnea hypopnea index (lnAHI) of PSG. The Snore Score of SL and the Sleep Quality of SCA were shown to be useful for evaluating snore severity and for pre-diagnosing or predicting OSA above moderate levels. Conclusion: These findings suggest that some parameters of free snore applications can be employed to monitor OSA progress, and future research could involve adjusted algorithms and larger-scale studies to further authenticate these downloadable snore and sleep applications.

Predicting heart failure symptoms from the apnoea-hypopnoea index determined by full- night polysomnography.

AIMS: Sleep-disordered breathing (SDB) is closely related to cardiovascular diseases. The higher the apnoea-hypopnoea index (AHI), the higher the prevalence of cardiovascular diseases. Despite these findings suggesting a close link between SDB and heart failure, the relationship between the severity of SDB and the onset of heart failure symptoms in individuals without apparent heart failure symptoms (Heart Failure Stage A + B) remains poorly understood. METHODS AND RESULTS: Between December 2010 and June 2017, we conducted full-night polysomnography (PSG) at the Nippon Medical School Chiba Hokusoh Hospital, extracting patients who were at risk of heart failure (Stage A or B in the Heart Failure Guidelines). Using a median cut-off of AHI ≥ 41.6 events/hour, we divided the patients into two groups and examined the composite endpoint of all-cause mortality plus hospitalization due to heart failure as the primary endpoint. We included 230 patients (mean age 63.0 ± 12.5 years, 78.3% males) meeting the selection criteria. When comparing the two groups, those with AHI < 41.6 events/hour (L group, n = 115) and those with AHI ≥ 41.6 events/hour (H group, n = 115), the H group had higher body mass index and higher serum triglyceride, and lower the frequency of acute coronary syndrome and lower estimated glomerular filtration rate than did the L group, but no other patient characteristics differed significantly. The H group had a significantly higher incidence of the composite endpoint than did the L group (10.6% vs. 2.6%, P = 0.027). Factors associated with the composite endpoint were identified through multivariate analyses, with AHI, haemoglobin, and left atrial dimension emerging as significant factors (hazard ratio [HR] = 1.02, 95% confidence interval [CI] = 1.00-1.04, P = 0.024; HR = 0.71, 95% CI = 0.54-0.94, P = 0.017; and HR = 1.10, 95% CI = 1.03-1.18, P = 0.006, respectively). Conversely, the minimum SpO2 during PSG (<80%) was not associated with the composite endpoint. CONCLUSIONS: In patients with SDB who are at risk of heart failure, severe SDB is associated with a high risk of all-cause mortality and the development of heart failure. Additionally, combining cardiac echocardiography and PSG data may improve risk stratification, offering potential assistance for early intervention. Further examination with a validation cohort is necessary.

REM sleep behaviour disorder (RBD): Personal perspectives and research priorities.

The formal identification and naming of rapid eye movement (REM) sleep behaviour disorder (RBD) in 1985-1987 is described; the historical background of RBD from 1966 to 1985 is briefly discussed; and RBD milestones are presented. Current knowledge on RBD is identified with reference to recent comprehensive reviews, allowing for a focus on research priorities for RBD: factors and predictors of neurodegenerative phenoconversion from isolated RBD and patient enrolment in neuroprotective trials; isolated RBD clinical research cohorts; epidemiology of RBD; traumatic brain injury, post-traumatic stress disorder, RBD and neurodegeneration; depression, RBD and synucleinopathy; evolution of prodromal RBD to neurodegeneration; gut microbiome dysbiosis and colonic synuclein histopathology in isolated RBD; other alpha-synuclein research in isolated RBD; narcolepsy-RBD; dreams and nightmares in RBD; phasic REM sleep in isolated RBD; RBD, periodic limb movements, periodic limb movement disorder pseudo-RBD; other neurophysiology research in RBD; cardiac scintigraphy (123I-MIBG) in isolated RBD; brain magnetic resonance imaging biomarkers in isolated RBD; microRNAs as biomarkers in isolated RBD; actigraphic, other automated digital monitoring and machine learning research in RBD; prognostic counselling and ethical considerations in isolated RBD; and REM sleep basic science research. RBD research is flourishing, and is strategically situated at an ever-expanding crossroads of clinical (sleep) medicine, neurology, psychiatry and neuroscience.

Persistent combined type sleep-related rhythmic movement disorder into adolescence: a case report.

SRMD is characterized by repetitive, stereotyped, rhythmic movements of large muscle groups, primarily occurring at the onset of sleep and during sleep. Common in infancy and early childhood, its persistence into adolescence or adulthood is rare. Combined type is rare. This article reviews and analyzes the diagnosis and treatment of a case with combined type SRMD persisting for 15 years aimed at enhancing the level of diagnosis and treatment of the disorder, and reducing misdiagnosis and missed diagnosis.

Predominant cardiac sympathetic modulation during wake and sleep in patients with Rett syndrome.

BACKGROUND: Rett syndrome (RTT) is a rare neurological disorder primarily associated with mutations in the methyl-CpG-binding protein 2 (MECP2) gene. The syndrome is characterized by cognitive, social, and physical impairments, as well as sleep disorders and epilepsy. Notably, dysfunction of the autonomic nervous system is a key feature of the syndrome. Although Heart Rate Variability (HRV) has been used to investigate autonomic nervous system dysfunction in RTT during wakefulness, there is still a significant lack of information regarding the same during sleep. Therefore, our aim was to investigate cardiovascular autonomic modulation during sleep in subjects with RTT compared to an age-matched healthy control group (HC). METHOD: A complete overnight polysomnographic (PSG) recording was obtained from 11 patients with Rett syndrome (all females, 10 ± 4 years old) and 11 HC (all females, 11 ± 4 years old; p = 0.48). Electrocardiogram and breathing data were extracted from PSG and divided into wake, non-REM, and REM sleep stages. Cardiac autonomic control was assessed using symbolic non-linear heart rate variability analysis. The symbolic analysis identified three patterns: 0 V% (sympathetic), 2UV%, and 2LV% (vagal). RESULTS: The 0 V% was higher in the RTT group than in the HC group during wake, non-REM, and REM stages (p < 0.01), while the 2LV and 2UV% were lower during wake and sleep stages (p < 0.01). However, the 0 V% increased similarly from the wake to the REM stage in both RTT and HC groups. CONCLUSIONS: Therefore, the sympatho-vagal balance shifted towards sympathetic predominance and vagal withdrawal during wake and sleep in RTT, although cardiac autonomic dynamics were preserved during sleep.

Hypocretin-1/orexin-A, sleep and excessive daytime sleepiness in patients with nonconvulsive status epilepticus: A cross-sectional cohort study.

BACKGROUND AND OBJECTIVES: Nonconvulsive status epilepticus (NCSE) manifests as a change in mental status without a coma (NCSE proper) or comatose NCSE. Hypocretin-1/orexin-A (H/O) is involved in alertness and sleep maintenance. Sleep impairment and excessive daytime sleepiness (EDS) have a negative impact on cognitive functions and activities of daily living (ADL). METHODS: Patients meeting the NCSE criteria underwent cerebrospinal fluid and brain magnetic resonance imaging examinations, polysomnographies (PSG), multiple latency sleep tests (MSLT), and completed Epworth Sleepiness Scale (ESS). Montreal Cognitive Assessment was used to evaluate cognitive functions, and the Barthel Index was used to assess ADL in the acute phase (V1) and three months follow-up (V2). RESULTS: From May 2020 to May 2023, we enrolled 15 patients, eight (53.3 %) women, with a median age of 69 (14) years. The median H/O CSF concentration was 250 (63.6) pg/ml; however, only three CSF samples (20 %) decreased below the borderline concentration of 200 pg/ml. Fourteen out of 15 patients (93.3 %) completed the PSG study. The median of wakefulness after sleep onset was 167 (173.5) min, sleep efficiency (SE) was 62.9 (63) %, sleep latency (SL) was 6 (32) min, REM sleep was 2.85 (7.2) %, and REM first episode latency was 210.5 (196.5) minutes. The medians of the stages N1 NREM were 4.65 (15) %, N2 NREM 68.4 (29.9) %, and N3 NREM 21.8 (35.5) %. MSLT mean latency was 7.7 (12.6) minutes. A significant negative correlation exists between H/O CSF concentrations and the stage N1 NREM (rs = -0.612, p = 0.02), and the proportion of cumulative sleep time with oxygen saturation below 90 % in total sleep time (TST) t90 (rs = -0.57, p = 0.03). MSLT had significant negative correlation with TST (rs = -0.5369, p = 0.0478), with SE (rs = -0.5897, p = 0.0265), with apnea-hypopnea index (rs = -0.7631, p = 0.0002) and with deoxygenation index (rs = -0.8009, p = 0.0006). A positive correlation exists between MSLT and SL (rs = 0.6284, p = 0.0161) and between ESS and t90 (rs = 0.9014, p = 0.0004). The correlation between H/O CSF concentrations and EDS, cognitive performance, and ADL was not proved. CONCLUSIONS: Patients after NCSE exhibited sleep impairment and excessive daytime sleepiness. Hypocretin-1/orexin-A concentrations decreased only in 20 % of these cases.