Severity of sleep apnea as a prognostic factor for mortality in patients with multiple system atrophy.

BACKGROUND: We determined whether the severity of sleep apnea increases the risk of mortality in patients with multiple system atrophy (MSA) with and without stridor. MethodsThis retrospective study included patients who underwent polysomnography within one year after diagnosis of probable MSA. Stridor, sleep apnea, and arousal from sleep were determined using full-night polysomnography. Disease severity was measured using the Unified MSA Rating Scale (UMSARS). Survival data were collected and analyzed using Cox regression analysis. RESULTS: Sixty-four patients with MSA were included. During a median follow-up of 34.5 months, 49 (76.6 %) patients died. Stridor was present in 56.3 % of patients. Patients with stridor had more severe sleep apnea and shorter sleep time than those without, but the hazard ratio (HR) for death did not differ between patients with and without stridor. Among patients without stridor, apnea-hypopnea index ≥30/h (HR, 6.850; 95 % confidence interval [CI], 1.983-23.664; p = 0.002) and a score of UMSARS I + II (HR, 1.080; 95 % CI, 1.040-1.121; p < 0.001) were independently associated with death. In contrast, among patients with stridor, frequent arousals from sleep (HR, 0.254; 95 % CI, 0.089-0.729; p = 0.011) were a significant factor associated with longer survival, while MSA-cerebellar type tended to be associated with poor survival (HR, 2.195; 95 % CI, 0.941-5.120; p = 0.069). CONCLUSION: The severity of sleep apnea might be a significant predictor of shorter survival in MSA patients without stridor, whereas frequent arousals from sleep might be a significant predictor for longer survival in MSA patients with stridor.

Large muscle group movements during sleep in restless leg syndrome: neurophysiological and clinical implications.

STUDY OBJECTIVES: Recently, criteria have been drawn up for large muscle group movements during sleep (LMM), defined as movements lasting for 3-45 seconds in adults, which are often accompanied by changes in sleep stage, arousals, and increases in heart rate. The aim of this study was to characterize LMM in restless legs syndrome (RLS) in order to better evaluate their impact on the neurophysiology of the disorder and, therefore, the possible clinical implications. METHODS: Consecutive, drug-free patients diagnosed with RLS and controls, aged 18 years or more, were retrospectively enrolled. Leg movement activity-short-interval (SILMS), periodic (PLMS), and isolated (ISOLMS) leg movements during sleep-and LMM were detected and scored. RESULTS: In total, 100 patients and 67 controls were recruited. All movement measures were significantly higher in RLS. A significant positive correlation was found between LMM and ISOLMS index but not PLMS index in both groups. LMM index showed a significant negative correlation with total sleep time, sleep efficiency, and percentage of sleep stages N3 and R, as well as a significant positive correlation with the number of awakenings, and percentage of sleep stages N1 and N2 only in patients with RLS. No significant correlation was found between either LMM or PLMS index and RLS severity. CONCLUSIONS: Different types of movements, including SILMS, ISOLMS, and LMM, play somewhat distinct roles in sleep neurophysiology in RLS. Notably, LMM, a newly recognized category of movements, demonstrates associations with sleep architecture instability and fragmentation, arousals, and awakenings, suggesting potential clinical implications.

Chronic insomnia, REM sleep instability and emotional dysregulation: A pathway to anxiety and depression?

The world-wide prevalence of insomnia disorder reaches up to 10% of the adult population. Women are more often afflicted than men, and insomnia disorder is a risk factor for somatic and mental illness, especially depression and anxiety disorders. Persistent hyperarousals at the cognitive, emotional, cortical and/or physiological levels are central to most theories regarding the pathophysiology of insomnia. Of the defining features of insomnia disorder, the discrepancy between minor objective polysomnographic alterations of sleep continuity and substantive subjective impairment in insomnia disorder remains enigmatic. Microstructural alterations, especially in rapid eye movement sleep ("rapid eye movement sleep instability"), might explain this mismatch between subjective and objective findings. As rapid eye movement sleep represents the most highly aroused brain state during sleep, it might be particularly prone to fragmentation in individuals with persistent hyperarousal. In consequence, mentation during rapid eye movement sleep may be toned more as conscious-like wake experience, reflecting pre-sleep concerns. It is suggested that this instability of rapid eye movement sleep is involved in the mismatch between subjective and objective measures of sleep in insomnia disorder. Furthermore, as rapid eye movement sleep has been linked in previous works to emotional processing, rapid eye movement sleep instability could play a central role in the close association between insomnia and depressive and anxiety disorders.

Intracerebral Dynamics of Sleep Arousals: A Combined Scalp-Intracranial EEG Study.

As an intrinsic component of sleep architecture, sleep arousals represent an intermediate state between sleep and wakefulness and are important for sleep-wake regulation. They are defined in an all-or-none manner, whereas they actually present a wide range of scalp-electroencephalography (EEG) activity patterns. It is poorly understood how these arousals differ in their mechanisms. Stereo-EEG (SEEG) provides the unique opportunity to record intracranial activities in superficial and deep structures in humans. Using combined polysomnography and SEEG, we quantitatively categorized arousals during nonrapid eye movement sleep into slow wave (SW) and non-SW arousals based on whether they co-occurred with a scalp-EEG SW event. We then investigated their intracranial correlates in up to 26 brain regions from 26 patients (12 females). Across both arousal types, intracranial theta, alpha, sigma, and beta activities increased in up to 25 regions (p < 0.05; d = 0.06-0.63), while gamma and high-frequency (HF) activities decreased in up to 18 regions across the five brain lobes (p < 0.05; d = 0.06-0.44). Intracranial delta power widely increased across five lobes during SW arousals (p < 0.05 in 22 regions; d = 0.10-0.39), while it widely decreased during non-SW arousals (p < 0.05 in 19 regions; d = 0.10-0.30). Despite these main patterns, unique activities were observed locally in some regions such as the hippocampus and middle cingulate cortex, indicating spatial heterogeneity of arousal responses. Our results suggest that non-SW arousals correspond to a higher level of brain activation than SW arousals. The decrease in HF activities could potentially explain the absence of awareness and recollection during arousals.

Sleep disorders and cardiovascular risk: Focusing on sleep fragmentation.

In this comment, we explored the link between sleep fragmentation and the cardiovascular risk, considering various sleep disorders and methodologies for assessing sleep fragmentation.

The Parasomnias.

Parasomnias usually present in childhood and resolve spontaneously. The diagnosis of non-rapid eye movement-related parasomnias is mainly based on clinical descriptors and can be challenging. Rapid eye movement-related parasomnias may index an underlying psychiatric disorder. Even if benign, parasomnias can affect quality of life. Pediatricians and child psychiatrists should be familiarized with these sleep disorders and suggest adequate sleep hygiene, avoidance of sleep deprivation, and regular bedtimes even on weekends as the first step in management of these disorders. Clinicians should pursue the opportunity for tailoring treatments and consider referral to a sleep expert when indicated.

Understanding Sexual Parasomnias: A Review of the Current Literature on Their Nature, Diagnosis, Impacts, and Management.

Sexual behavior during sleep, known as sexual parasomnias, has captured the interest of researchers and clinicians. These parasomnias involve various sexual activities that occur unconsciously during sleep. Although relatively rare, they can profoundly affect well-being and relationships and can carry legal consequences. Understanding their nature, prevalence, and causes is crucial for advancing knowledge in this field. This article revisits the topic of sexsomnia, presenting new data and discussing cases published from 2007 to 2023. By analyzing these cases, we aim to enhance recognition, diagnosis, and management of sexsomnia, reducing stigma and providing better support for affected individuals.

Challenges in diagnosing NREM parasomnias: Implications for future diagnostic classifications.

NREM parasomnias are frequent and potentially disabling sleep disorders characterized by recurrent abnormal behaviors emerging from NREM sleep. Recently, several studies provided more detailed clinical and polysomnographic characterization of NREM parasomnia which may enhance the diagnostic process. Several revisions of the diagnostic criteria have been proposed in the classification of sleep disorders, the latest being ICSD-3-TR in 2023 with no changes on NREM parasomnias since ICSD-3 published in 2014. We performed an extensive literature review to assess the evidence on the procedure of its diagnosis. We dissected the inconsistencies and shortcomings in the ICSD-3-TR to propose a revision of the current diagnostic criteria. We highlighted the limits of several clinical criteria which should rather be supportive features than mandatory criteria. Infrared cameras with video-recordings with are promising tools to precisely characterize home episodes. Sensitive and specific polysomnographic markers of NREM parasomnias have been identified and should be considered in future revisions. We also suggest the use of diagnostic specifiers (clinical subtypes, clinical significance, levels of severity, age effect, levels of certainty) to define homogeneous subgroups of patients for therapeutic intervention and research purposes. In conclusion, we advocate for significant changes in the current diagnostic criteria of NREM parasomnias for future classification.

Parasomnias and Associated Factors Among University Students: A Cross-Sectional Study in Saudi Arabia.

Background and aim Parasomnias are a group of sleep-related movements or emotions like sleepwalking, sleep talking, teeth grinding (Bruxism), nocturnal enuresis (sleep enuresis), sleep terrors (night terrors), sleep-related eating disorder (SRED), nightmare disorder, REM Sleep Behavior Disorder (RBD), and confusional arousals. Parasomnias are more common in children than in adults. This study aimed to estimate the prevalence of different parasomnias among university students in Saudi Arabia. Additionally, it aimed to study the relationship between different parasomnias and gender-associated sleep disorders, mental disorders, and other medical diseases, stress, substance use, and medications. Methods This study is a descriptive cross-sectional survey-based study. The target population for this study is university students from different regions of Saudi Arabia. Parasomnia was defined as having at least one of the 11 disorders (over the past six months). Data was collected through an online survey. The survey was distributed on different online platforms to collect data from other regions of Saudi Arabia. The study took place between August and November 2022. Results Among 1,296 participants, 934 (72.1%) were female, and 1,071 (82.6%) were aged 19-24 years. A total of 1054 (81, 3%) participants reported having at least one parasomnia disorder. The most prevalent parasomnias were sleep talking 656 (50.6%), nightmares 650 (50.2%), and confusional arousals 524 (40.4%). The least prevalent parasomnia was sleep-related eating disorder 98 (7.6%). Among participants, 580 (44.8%) had a family history of parasomnia, 439 (33.9%) were diagnosed with sleep disorders, 296 (22.8%) were diagnosed with mental illnesses, and 92 (7.1%) had other medical diseases. Conclusion Parasomnias are prevalent among university students in Saudi Arabia. Parasomnias were higher in female students and in students with a family history of parasomnia. Parasomnias in adults might be a chronic or recurrent disorder. Parasomnias are significantly associated with psychological stress, depression, and anxiety disorders.

Alertamientos y movimientos periódicos de las piernas durante las etapas de sueño y deterioro cognitivo leve en adultos mayores. Estudio preliminar / Arousals and periodic leg movements during sleep stages and mild cognitive impairment in older adults: a preliminary study

RESUMEN La fragmentación del sueño puede asociarse con distintas enfermedades, entre ellas, la demencia. En este sentido, la fragmentación de sueño, indicada por el índice de alertamientos y/o movimientos periódicos de las piernas (MPP), podría ser un marcador temprano de deterioro cognitivo leve (DCL), un síndrome precursor de la demencia. El objetivo del presente estudio fue medir el índice de prevalencia de los alertamientos y de los MPP durante el sueño en un grupo control y un grupo con DCL, así como determinar si hay diferencia entre los grupos en ambos índices y establecer si existe una correlación entre los dos fenómenos. En 9 participantes (3 mujeres controles y 3 mujeres con DCL; y 3 hombres con DCL) (edad: 69.1 ± 5; años de educación: 8 ± 2) se registró una noche de polisomnografía. Se obtuvieron los índices por hora de alertamientos y para cada etapa de sueño, así como los MPP globales y por hora; además se realizaron análisis entre y dentro de cada grupo. Se encontró una correlación positiva y un mayor número de MPP que de alertamientos durante toda la noche en los participantes con DCL. Conocer la prevalencia y asociación de ambos fenómenos contribuye en la formulación de una evaluación más cuidadosa y profunda de los adultos mayores en riesgo de desarrollar DCL y/o demencia.

ABSTRACT Sleep fragmentation may be associated with several diseases, including dementia. In this sense, sleep fragmentation, indicated by the rates of arousals and/or periodic leg movements (PLM), could be an early marker of Mild Cognitive Impairment (MCI), a syndromic stage prior to dementia. Therefore, the objective of this study was to compare the index of PLM with that of arousals and correlate both indexes in people with MCI and without MCI during all sleep stages. In 9 participants (3 control women and 3 women with MCI; and 3 men with MCI) (ages: 69.1 ± 5; years of education: 8 ± 2), one night of polysomnography was performed. Hourly rates of arousals and PLM were scored from each sleep stage. Analyses were performed within and between PLM and arousals for each group. Significant differences and a positive correlation were found between the arousal and the PLM rates for the group with MCI during the whole night. Knowledge of the prevalence and the association of both phenomena may contribute to a more careful and thorough evaluation of older adults at risk of developing MCI and/or dementia.

A case-control study on the effect of rhythmic masticatory muscle activity (RMMA) clusters on sleep fragmentation and severity of orofacial muscle pain in sleep bruxism.

Rhythmic masticatory muscle activity (RMMA) is a periodic muscle activity that characterises sleep bruxism (SB) events. These can occur as a single event, in pairs, or in clusters. Since RMMA episodes often occur in clusters and the relevance of this occurrence is unknown, we conducted a study to investigate the effect of RMMA clusters on sleep fragmentation and the severity of orofacial muscle pain. This study involved a secondary analysis using data from 184 adult subjects with orofacial muscle pain who underwent definitive polysomnography (PSG) for sleep bruxism diagnosis. Self-reported orofacial muscle pain (OFMP) was assessed using the numeric rating scale, and additional evaluation of side-to-side equivalence (symmetry) was described using a binary system. Among the 184 participants, 60.8% (n = 112) did not exhibit clusters and among the 72 participants with clusters, 36.1% (n = 26) and 63.9% (n = 46) were in the high and low RMMA frequency groups, respectively. The high SB group had significantly three times more phasic RMMA events than the noncluster group. A total of 89.67% (n = 165) of subjects reported orofacial muscle pain. While there was no difference in the severity of OFMP among groups, a significant decrease in symmetry between the severity of temporal muscle pain on the left and right sides was noted in the cluster group compared with the noncluster group. Clustering of RMMA events is associated with sleep fragmentation. The asymmetry of temporal muscle pain is related to the presence of RMMA clusters in sleep bruxism.

Obstructive sleep apnea and epilepsy: understanding the pathophysiology of the comorbidity.

Obstructive sleep apnea (OSA) is a sleep disorder of significant health concern with a high prevalence in the general population. It has been found to exhibit a high incidence of comorbidity with epilepsy, the exact underlying pathophysiology of which still remains poorly understood. OSA is characterized by apnea/hypopnea spells and arousals, leading to intermittent hypoxemia and sleep deprivation. Both sleep deprivation and hypoxemia adversely affect the cortical excitability and favor epileptogenesis and worsening of pre-existing epilepsy, if any. In patients with OSA, deprivation of rapid eye movement sleep (REMS) phase (known for its strong antiepileptic influence) is relatively more than that non rapid eye movement sleep phase leading to postulation of REMS deprivation as a significant factor in the development of epilepsy as a comorbidity in patients with OSA. Furthermore, OSA and epilepsy both have shown to exercise a bidirectional influence on one another and are also likely to exacerbate each other through a positive feedback mechanism. This is especially based on the reports of improved control of epilepsy upon treatment of comorbid OSA. This brief paper attempts to present an underlying pathophysiological basis of the comorbidity of OSA and epilepsy based upon sleep deprivation and hypoxemia that are characteristic features observed in patients with OSA.

Autonomic arousal detection and cardio-respiratory sleep staging improve the accuracy of home sleep apnea tests.

Introduction: The apnea-hypopnea index (AHI), defined as the number of apneas and hypopneas per hour of sleep, is still used as an important index to assess sleep disordered breathing (SDB) severity, where hypopneas are confirmed by the presence of an oxygen desaturation or an arousal. Ambulatory polygraphy without neurological signals, often referred to as home sleep apnea testing (HSAT), can potentially underestimate the severity of sleep disordered breathing (SDB) as sleep and arousals are not assessed. We aim to improve the diagnostic accuracy of HSATs by extracting surrogate sleep and arousal information derived from autonomic nervous system activity with artificial intelligence. Methods: We used polysomnographic (PSG) recordings from 245 subjects (148 with simultaneously recorded HSATs) to develop and validate a new algorithm to detect autonomic arousals using artificial intelligence. A clinically validated auto-scoring algorithm (Somnolyzer) scored respiratory events, cortical arousals, and sleep stages in PSGs, and provided respiratory events and sleep stages from cardio-respiratory signals in HSATs. In a four-fold cross validation of the newly developed algorithm, we evaluated the accuracy of the estimated arousal index and HSAT-derived surrogates for the AHI. Results: The agreement between the autonomic and cortical arousal index was moderate to good with an intraclass correlation coefficient of 0.73. When using thresholds of 5, 15, and 30 to categorize SDB into none, mild, moderate, and severe, the addition of sleep and arousal information significantly improved the classification accuracy from 70.2% (Cohen's κ = 0.58) to 80.4% (κ = 0.72), with a significant reduction of patients where the severity category was underestimated from 18.8% to 7.3%. Discussion: Extracting sleep and arousal information from autonomic nervous system activity can improve the diagnostic accuracy of HSATs by significantly reducing the probability of underestimating SDB severity without compromising specificity.

Dissociation of Arousal Index Between REM and NREM Sleep in Elderly Adults with Cognitive Impairment, No Dementia: A Pilot Study.

BACKGROUND: Sleep disruption in elderly has been associated with an increased risk of cognitive impairment and its transition into Alzheimer's disease (AD). High arousal indices (AIs) during sleep may serve as an early-stage biomarker of cognitive impairment non-dementia (CIND). OBJECTIVE: Using full-night polysomnography (PSG), we investigated whether CIND is related to different AIs between NREM and REM sleep stages. METHODS: Fourteen older adults voluntarily participated in this population-based study that included Mini-Mental State Examination, Neuropsi battery, Katz Index of Independence in Activities of Daily Living, and single-night PSG. Subjects were divided into two groups (n = 7 each) according to their results in Neuropsi memory and attention subtests: cognitively unimpaired (CU), with normal results; and CIND, with -2.5 standard deviations in memory and/or attention subtests. AIs per hour of sleep during N1, N2, N3, and REM stages were obtained and correlated with Neuropsi total score (NTS). RESULTS: AI (REM)  was significantly higher in CU group than in CIND group. For the total sample, a positive correlation between AI (REM)  and NTS was found (r = 0.68, p = 0.006), which remained significant when controlling for the effect of age and education. In CIND group, the AI (N2)  was significantly higher than the AI (REM) . CONCLUSION: In CIND older adults, this attenuation of normal arousal mechanisms in REM sleep are dissociated from the relative excess of arousals observed in stage N2. We propose as probable etiology an early hypoactivity at the locus coeruleus noradrenergic system, associated to its early pathological damage, present in the AD continuum.

Sleep Apnea Physiological Burdens and Cardiovascular Morbidity and Mortality.

Rationale: Obstructive sleep apnea is characterized by frequent reductions in ventilation, leading to oxygen desaturations and/or arousals. Objectives: In this study, association of hypoxic burden with incident cardiovascular disease (CVD) was examined and compared with that of "ventilatory burden" and "arousal burden." Finally, we assessed the extent to which the ventilatory burden, visceral obesity, and lung function explain variations in hypoxic burden. Methods: Hypoxic, ventilatory, and arousal burdens were measured from baseline polysomnograms in the Multi-Ethnic Study of Atherosclerosis (MESA) and the Osteoporotic Fractures in Men (MrOS) studies. Ventilatory burden was defined as event-specific area under ventilation signal (mean normalized, area under the mean), and arousal burden was defined as the normalized cumulative duration of all arousals. The adjusted hazard ratios for incident CVD and mortality were calculated. Exploratory analyses quantified contributions to hypoxic burden of ventilatory burden, baseline oxygen saturation as measured by pulse oximetry, visceral obesity, and spirometry parameters. Measurements and Main Results: Hypoxic and ventilatory burdens were significantly associated with incident CVD (adjusted hazard ratio [95% confidence interval] per 1 SD increase in hypoxic burden: MESA, 1.45 [1.14, 1.84]; MrOS, 1.13 [1.02, 1.26]; ventilatory burden: MESA, 1.38 [1.11, 1.72]; MrOS, 1.12 [1.01, 1.25]), whereas arousal burden was not. Similar associations with mortality were also observed. Finally, 78% of variation in hypoxic burden was explained by ventilatory burden, whereas other factors explained only <2% of variation. Conclusions: Hypoxic and ventilatory burden predicted CVD morbidity and mortality in two population-based studies. Hypoxic burden is minimally affected by measures of adiposity and captures the risk attributable to ventilatory burden of obstructive sleep apnea rather than a tendency to desaturate.

The effect of diet-induced obesity on sleep and breathing in female mice.

Obesity and male sex are main risk factors for sleep-disordered breathing (SDB). We have shown that male diet-induced obesity (DIO) mice develop hypoventilation, sleep apnea, and sleep fragmentation. The effects of DIO on breathing and sleep architecture in females have not been investigated. We hypothesized that female mice are less susceptible to the detrimental effects of DIO on sleep and SDB compared to males. Female DIO-C57BL/6J and lean C57BL/6J mice underwent 24-hour metabolic studies and were exposed to 8% CO2 to measure the hypercapnic ventilatory response (HCVR), and sleep studies. Ventilatory response to arousals was calculated as ratio of the average and peak minute ventilation (VE) during each arousal relative to the baseline VE. Breathing stability was measured with Poincaré plots of VE. Female obesity was associated with decreased metabolism, indicated by reduced oxygen consumption (VO2) and CO2 production (VCO2). VE in 8% CO2 and HCVR were significantly attenuated during wakefulness. NREM sleep duration was reduced in DIO mice, but REM sleep was preserved. Ventilation during NREM and REM sleep was augmented compared to lean mice. Arousal frequency was similar between groups. Obesity increased the frequency of spontaneous arousals, whereas the apnea index was 4-fold reduced in DIO compared to lean mice. Obesity decreased pre- and post-apnea arousals. Obese mice had more stable breathing with reduced ventilatory response to arousals, compared to lean females. We conclude that obese female mice are protected against SDB, which appears to be related to an attenuated CO2 responsiveness, compared to the lean state.

Cardiorespiratory changes associated with micro-arousals during naps.

The autonomic nervous system (ANS) and the central nervous system (CNS) interplay during sleep, particularly during phasic events such as micro-arousals, has been the subject of several studies. The underlying mechanisms of such relationship which remain unclear, specifically during daytime sleep, were partly investigated in this study. Napping polysomnography was performed on two occasions at least one week apart in 15 healthy subjects. The following cardiorespiratory variables were extracted from the recordings: tachogram, pulse transit time (PTT), pulse wave amplitude, respiratory cycle amplitude, and frequency. Two experts first detected micro-arousal events, then, cardiorespiratory variables were averaged by 30-s epochs over 2 min centered on the onset of the micro-arousals. We found that in the 30 s preceding the arousal events as detected on the electroencephalogram (EEG) recordings, there was a decrease in tachogram, pulse wave amplitude, and PTT values while the respiratory amplitude increased. These changes were more prominent in stage N2 and N3 sleep than in stage N1. The present findings provide new insights into the autonomic changes during the pre-arousal period in daytime naps, as all the variables investigated suggest a sympathetic physiological origin for the changes.

Temperature shifts associated with bat arousals during hibernation inhibit the growth of Pseudogymnoascus destructans.

Temperature is a critically important factor in many infectious disease systems, because it can regulate responses in both the host and the pathogen. White-nose syndrome (WNS) in bats is a severe infectious disease caused by the temperature-sensitive fungus, Pseudogymnoascus destructans (Pd). One feature of WNS is an increase in the frequency of arousal bouts (i.e. when bat body temperatures are elevated) in Pd-infected bats during hibernation. While several studies have proposed that increased frequency of arousals may play a role in the pathophysiology of WNS, it is unknown if the temperature fluctuations might mediate Pd growth. We hypothesized that exposure to a high frequency of elevated temperatures would reduce Pd growth due to thermal constraints on the pathogen. We simulated the thermal conditions for arousal bouts of uninfected and infected bats during hibernation (fluctuating from 8 to 25°C at two different rates) and quantified Pd growth in vitro. We found that increased exposure to high temperatures significantly reduced Pd growth. Because temperature is one of the most critical abiotic factors mediating host-pathogen interactions, resolving how Pd responds to fluctuating temperatures will provide insights for understanding WNS in bats and other fungal diseases.

Sleep, Respiration and Nocturnal Paroxysmal Events in Joubert Syndrome: A Case Report.

Introduction: Joubert syndrome is a rare disorder, characterized by a complex midbrain malformation caused by defects in the structure and/or function of the primary cilium. Case Report: A 15-year-old boy with mild intellectual disability, hypotonia, mild ataxia, and abnormal eye movements diagnosed as having Joubert Syndrome since childhood, was referred to the Sleep Unit because spells of apnea while sleeping. He did not complain of snoring or daytime somnolence. The macro and microstructure of sleep and the comorbidities such respiratory abnormalities, periodic legs movements (PLM) and paroxysmal motor arousals (PA) and minimal motor events (MME) are described for the first time in Joubert syndrome. Results: EEG was normal. Video-polysomnography revealed a nocturnal disturbed sleep and periods of hyperpnea accompanied by body movements and followed by a periodic breathing lasting several minutes with no oxygen desaturation. The arousals provoked by apneas triggered paroxysmal motor events with dystonic movements in the hand and right foot accompanied by a spontaneous Babinski. Brain MRI showed the typical "molar tooth sign". Conclusion: Joubert syndrome is a heterogeneous disease. Epileptic seizures have been reported in some cases. Video-PSG is mandatory for the identification of nocturnal breathing abnormalities and sleep-related motor paroxysmal episodes.

Sleep stability in isolated rapid eye movement sleep behavior disorder, Parkinson's disease, and dementia with Lewy bodies.

BACKGROUND: Non-REM sleep symptoms remain poorly understood in alpha-synucleinopathies. AIMS: The aims of the study were to compare sleep stability and transitions, arousals, and sleep cycle structure between isolated rapid eye movement (REM) sleep behavior disorder (iRBD), Parkinson's disease (PD), and dementia with Lewy Bodies (DLB). MATERIALS AND METHODS: Sleep transition and stability measures were assessed in one-night video-polysomnography records. Transition measures were the number of shifts between Wake and REM, Wake and NREM, and REM and NREM. Stability measures were the number of passages within the same sleep stage. We assessed arousals, the number/duration of sleep cycles (defined as a sequence of any NREM stage to REM), and the duration of N3 and REM sleep in each cycle. These variables were compared between two sets of groups (PD vs. DLB vs. iRBD and RDB+ vs. RBD-). RESULTS: We assessed 54 PD, 24 DLB, and 21 iRBD patients (54 RBD+, 22 RBD-). There were no significant differences regarding sleep stability measures. Arousal indices in N1 and N2 stages were significantly higher in PD compared with iRBD. 24% of the sample did not have any sleep cycle. PD had significantly fewer cycles than iRBD. Differences became non-significant when adjusting for medication. There was no effect of group or time of night in REM or N3 duration. There were no significant differences between RBD+ and RBD-. DISCUSSION: There were no significant differences in stability/transition measures. Arousals and disturbance in sleep cycling were higher in PD, but the difference was no longer significant after adjusting for medication. CONCLUSION: Different alpha-synucleinopathies have a similar degree of non-REM sleep instability, but medication could worsen symptoms in PD.