Search

Disorders of arousal (DoA) and sleep-related hypermotor epilepsy (SHE) are sleep-related events characterized by complex, often bizarre, and violent behaviors. DoA are involuntary motor manifestations of various complexities occurring during incomplete awakening from non-rapid eye movement sleep. SHE is a focal epilepsy characterized by stereotyped hyperkinetic or/and asymmetric tonic/dystonic seizures usually arising from non-rapid eye movement sleep. Even if many aspects regarding DoA and SHE have been clarified, the differential diagnosis remains challenging, because DoA and SHE share some semiologic features and genetic background. The clinical history, collected from the patient and his/her witness, represents the first and common milestone in the diagnosis. Validated questionnaires constitute suitable screening tools that could guide further analysis. The worldwide availability of homemade video recordings has increased the possibility of adding more objective information to the clinical history alone. The confirmed diagnosis relies on video-polysomnographic recording although it requires time, economic resources, and specific skills for the analysis. In this review we propose a simple diagnostic algorithm for the differential diagnosis between DoA and SHE in adults, based on the most updated knowledge, from the simpler tool to the most specific and tailored one., (Copyright © 2021 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.)

Objective: Sleep disturbances are frequently reported in Mowat-Wilson Syndrome (MWS). The current study aimed to evaluate clinical and video-polysomnographic (VPSG) characteristics of the sleep architecture and abnormal electroencephalogram (EEG) patterns during sleep in MWS., Methods: Sixteen individuals with MWS (range 16 months-25 years), attending the Department of Child Neurology and Psychiatry of the University of Bologna, were included. The "Sleep Disturbances Scale for Children (SDSC)" questionnaire was administered to all parents of MWS patients, and all patients underwent a VPSG recording., Results: The analysis of the SDSC questionnaire revealed disturbances mainly at the sleep-wake transition and in initiating and maintaining sleep. Evaluation of sleep structure in MWS patients showed a significant reduction of total sleep time, an increase of wake after sleep onset and arousal index as compared to normal controls. An EEG pattern characterized by slowing of background activity and poverty of physiological sleep characterisitcs was observed in all patients. Moreover, in patients aged >7 years, anteriorly predominant spike and waves were observed, markedly activated by sleep configuring a sub-continuous or continuous activity., Conclusion: Our data (both clinical and VPSG) documented the presence of significant and clinically relevant sleep disturbances in MWS patients. Moreover, we identified a characteristic age-dependent sleep EEG pattern that could provide a new element to assist in the management of MWS., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Introduction: Hypnic jerks (HJs) are sudden contractions of one or more body segments occurring mostly at sleep onset. They are highly sporadic and affect all ages and both sexes with prevalence between 60% and 70% in the general population., Study Objectives: This study describes the frequency and the neurophysiological characteristics of HJs in a population of patients with parkinsonism by means of nocturnal video-polysomnographic recordings., Methods: This is a prospective cohort study and is reported following the STROBE guidelines. We analyzed the clinical and video-polysomnographic data of the first 66 consecutive patients recruited in the ongoing prospective study "Bologna motor and non-motor Prospective study on Parkinsonism at onset" (BoProPark). Each patient underwent a full neurological workup including a whole-night video- polysomnography. Neurophysiological characteristics including the propagation patterns of the HJs were studied with an extended muscle montage polysomnography., Results: We recorded a total of 62 HJs in 16 patients out of 66 (24%). Sleep parameters were not statistically different between patients with and without HJs. All HJs were spontaneous and occurred randomly throughout the night. Electromyographic analysis showed that muscle activity arose from different muscles with no prevalence of one over the other and without any ordered propagation. No recurring motor pattern of the jerks was detected., Discussion and Conclusions: Our findings demonstrated that HJs are a frequent, underestimated, sleep-related motor phenomenon in patients with parkinsonism. As they may represent a further cause of sleep disruption and insomnia, HJs should be actively examined. Neurophysiological analysis suggests a subcortical origin of HJs as shown previously for a healthy subject., (Copyright © 2016 Elsevier B.V. All rights reserved.)

Summary: Insufficient sleep syndrome possibly represents the worldwide leading cause of daytime sleepiness, but remains poorly recognised and studied. The aim of this case series is to comprehensively describe a cohort of patients with insufficient sleep syndrome. Eighty‐two patients were studied concerning demographic and socio‐economic features, medical, psychiatric and sleep comorbidities, substance use, sleep symptoms, actigraphy, video‐polysomnography, multiple sleep latency tests and treatment. The typical patient with insufficient sleep syndrome is a middle‐aged adult (with no difference of gender), employed, who has a family, often carrying psychiatric and neurological comorbidities, in particular headache, anxiety and depression. Other sleep disorders, especially mild sleep apnea and bruxism, were common as well. Actigraphy was a valuable tool in the characterisation of insufficient sleep syndrome, showing a sleep restriction during weekdays, associated with a recovery rebound of night sleep during weekends and a high amount of daytime sleep. An over‐ or underestimation of sleeping was common, concerning both the duration of night sleep and daytime napping. The average daily sleep considering both daytime and night‐time, weekdays and weekends corresponds to the recommended minimal normal duration, meaning that the burden of insufficient sleep syndrome could mainly depend on sleep fragmentation and low quality. Sleep efficiency was elevated both in actigraphy and video‐polysomnography. Multiple sleep latency tests evidenced a tendency toward sleep‐onset rapid eye movement periods. Our study offers a comprehensive characterisation of patients with insufficient sleep syndrome, and clarifies their sleeping pattern, opening avenues for management and treatment of the disorder. Current options seem not adapted, and in our opinion a cognitive‐behavioural psychotherapy protocol should be developed. [ABSTRACT FROM AUTHOR]

Updated guidelines for the video-polysomnography (vPSG) procedures for diagnosing rapid eye movement sleep behavior disorder (RBD) and the identification of its prodromal stages have recently been proposed by the Neurophysiology Working Group of the International RBD Study Group (IRBDSG). These guidelines were selected for review by a World Sleep Society (WSS) Parasomnias Task Force and the WSS International Sleep Medicine Guidelines Committee. A survey was completed by sleep society leaders and prominent sleep clinicians and researchers in 31 WSS member countries across six continents, focused on sleep technologist training and certification; extent of public/private health insurance coverage for the vPSG evaluation of RBD; extent of hospital-based sleep-technologist-attended overnight vPSG studies; availability of video during PSG studies; and sufficient specification of PSG machines to record and analyze REM sleep without atonia. The findings from this survey indicated that most health systems and medical communities across WSS member countries would not be capable of implementing the proposed more stringent guidelines, which would then strongly interfere with the diagnosis of RBD in a large portion of patients who would not be able to receive the required (often repeated) vPSG evaluation. Therefore, the WSS can only partially endorse the updated guidelines and concludes that the current International Classification of Sleep Disorders-3rd edition diagnostic criteria for RBD should still be retained as the standard reference for the diagnosis of RBD, and that further discussion across all members of the IRBDSG should take place to ensure the feasibility of any future proposed changes. [ABSTRACT FROM AUTHOR]

Purpose of Review: To summarize the current evidence on the associations between autoimmune neurological diseases (e.g., multiple sclerosis, myasthenia gravis) and sleep disturbances (e.g., insomnia, parasomnias), as well as to review the main characteristics of sleep disorders with an immune-related pathophysiology (e.g., narcolepsy, anti-IgLON5 disease). Recent Findings: An immune-mediated damage of the areas in the central nervous system that control sleep and wake functions (e.g., hypothalamus, brainstem) can lead to sleep disorders and sleep symptoms. Sleep disturbances are the reason to seek for medical attention in certain neuroimmunological conditions (e.g., narcolepsy, anti-IgLON5 disease) where sleep-related alterations are the main clinical feature. Summary: The assessment of sleep-related symptomatology and disorders should be included in the routine evaluation of patients with autoimmune neurological diseases. Clinicians should be aware of the typical clinical presentation of certain neuroimmunological disorders mainly affecting sleep. [ABSTRACT FROM AUTHOR]

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

Sleep-related rhythmic movement disorder (SRRMD) occurs in both infants and children. This disorder rarely occurs or persists in adolescence or adulthood. Rhythmic movement during sleep in children is often asymptomatic and considered a benign condition. It is classified as SRRMD when movement significantly disrupts sleep, results in daytime functional impairment, or causes self-inflicted body injury. Several studies have demonstrated that SRRMD occurs in all sleep stages. Few studies have investigated rhythmic movement disorder (RMD) in children. SRRMD is a clinical diagnosis supported by home video recordings. When the clinical history is insufficient to provide a definitive diagnosis of SRRMD, and other sleep-related conditions or seizure disorders are suspected, video-polysomnography is indicated. There are currently no clinical guidelines for treating SRRMD. [ABSTRACT FROM AUTHOR]

Sleep-related rhythmic movement disorder (SRRMD) occurs in both infants and children. This disorder rarely occurs or persists in adolescence or adulthood. Rhythmic movement during sleep in children is often asymptomatic and considered a benign condition. It is classified as SRRMD when movement significantly disrupts sleep, results in daytime functional impairment, or causes self-inflicted body injury. Several studies have demonstrated that SRRMD occurs in all sleep stages. Few studies have investigated rhythmic movement disorder (RMD) in children. SRRMD is a clinical diagnosis supported by home video recordings. When the clinical history is insufficient to provide a definitive diagnosis of SRRMD, and other sleep-related conditions or seizure disorders are suspected, video-polysomnography is indicated. There are currently no clinical guidelines for treating SRRMD.

The comorbidity between epilepsy and sleep disorders is well documented. However, the mechanisms underlining this comorbidity are not fully understood. The putative role of anti epileptic drugs in sleep architecture disturbances in epileptic children needs to be explored. In this study, we analysed sleep architecture of 75 epileptic children (30 females and 45 males), aged from 4 to 15 years (mean-age: 8.3 years). They were divided in three groups according to their antiepileptic treatments: NT group: no antiepileptic treatment ( n = 20), MT group: monotherapy ( n = 29) and PT group: polytherapy ( n = 26). All underwent video-polysomnographic recordings to assess main sleep parameters: stages of light sleep and slow waves sleep, REM sleep, total sleep time and awakenings. Percentages of paroxystic activity duration (PA) on TST were also calculated and classified in three subgroups: (<5%, 5% ≤ PA ≤ 20% and >20%). As result, significant decreases of REM sleep and of the sleep efficiency as well as significant increased awakenings were observed in PT group comparing to the NT group. No significative difference was found concerning the light sleep and slow waves sleep. A correlation was also observed between awakenings and PA. First, our data confirm that sleep disorders remain a hidden companion of childhood epilepsy. Second, we demonstrate that anti epileptic drugs may have some causal contribution. Diagnosing sleep disturbances should be part of the management of childhood epilepsy and should be taken into account in the choice of therapeutic strategy. [ABSTRACT FROM AUTHOR]

Summary: Seizures, namely in certain epileptic conditions, may be precipitated by sleep. Nocturnal frontal lobe epilepsy seizures, characterized by bizarre motor behaviour and autonomic activation, appear almost exclusively during sleep. The differential diagnosis between this condition and sleep-related non-epileptic paroxysmal motor phenomena, in particular the parasomnias, is arduous. Moreover, accepted criteria for the diagnosis of nocturnal frontal lobe seizures are lacking and even ictal scalp EEG recording could fail to disclose paroxysmal abnormalities. The clinical and polygraphic features of the different types of seizures in nocturnal frontal lobe epilepsy and of the more common non-epileptic paroxysmal events during sleep are described. The main differentiating features characterizing nocturnal frontal seizures are: onset at any age, several attacks per night at any time during the night, brief duration (s) with stereotyped motor pattern. As video-polysomnographic recordings of the attack, the gold-standard for diagnosis, are expensive and not readily available everywhere, home-made video recordings may be helpful. Further investigations on pathophysiology, genetics and epidemiology are needed to clarify the relationship between epileptic and non-epileptic sleep related paroxysmal phenomena. [Copyright &y& Elsevier]

We report the video-polysomnographic sleep characteristics of a 25-year-old woman with the Mulvihill-Smith syndrome, a rare clinical condition characterized by progeria-like aspect, peculiar multiple pigmented nevi, low stature, and cognitive impairment. Among the various exams, two overnight video-polysomnographic recordings were carried out; moreover, cerebral MRI and molecular analysis of the prion protein gene (PRNP) were also performed. The video-polysomnographic recordings showed the absence of clear sleep episodes but the presence of periods during which the patient had poor contact with the environment, stereotyped afinalistic movements of the upper limbs and hands, irregular or periodic breathing (with central apnea episodes), heart rate arrhythmia, and rapid eye movements. Cerebral MRI showed only diffuse mild enlargement of the cortical sulci and the molecular genetics analysis of the PRNP was normal. Our clinical and neurophysiological study seems to indicate that a particular condition of severe sleep disruption, similar to some extent to that reported in the fatal familial insomnia and in the Morvan fibrillary chorea, which has been indicated as Agrypnia Excitata in recent literature, might be associated with the Mulvihill-Smith syndrome. The inclusion of a detailed study on the sleep characteristics of eventual additional patients will certainly help our understanding of this rare condition. [ABSTRACT FROM AUTHOR]

Objective: The reciprocal relation between breathing, heart and motor system abnormalities during sleep was studied in multiple system atrophy (MSA) by means of video-polysomnographic recordings (VPSG).Patients and Methods: Nineteen consecutive MSA patients underwent VPSG with scoring for sleep, respiratory abnormalities, heart (HR) and breathing (BR) rates, and abnormal motor activities. A comparative analysis was performed versus 10 patients with obstructive sleep apnoea syndrome (OSAS).Results: All MSA patients displayed snoring, 42% stridor, and 37% OSAS. Mean sleep SaO2 was 92.7%, and lowest SaO2 86%. Patients with stridor had a significant increase in BR from Wake to NREM and REM sleep, and higher HR during sleep. Respiratory muscles and tibialis anterior EMG tonic activity was frequently found, more often in patients with stridor. All patients had REM sleep behaviour disorders (RBD) and 88% periodic limb movements during sleep (PLMS). No OSAS patient had RBD or respiratory muscles and tibialis anterior tonic activity.Conclusions: MSA patients, especially those with associated stridor, commonly display impaired breathing and abnormal control of respiratory and limb muscles during sleep. Breathing and motor abnormalities are often concomitant in the same patient, indicating a diffuse impairment of sleep homeostatic integration that should be included within the diagnostic features of MSA. [Copyright &y& Elsevier]

Abstract: Objective: We describe six patients affected by frequent episodes from sleep associated with compulsive smoking and/or eating. Patients woke up with a desire to smoke and/or eat because of an “inner” drive. Method: Video-polysomnography (VPSG) was performed in three patients. Results: VPSG documented a normal sleep structure with an increased arousal index. Conclusion: Compulsive eating during sleep has been classified as sleep-related eating syndrome or Nocturnal eating syndrome, but its association with compulsive smoking has not been previously reported. [Copyright &y& Elsevier]