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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.

The Coronavirus Disease 2019 (COVID-19) pandemic required a thorough re-organization of every sector of the healthcare system. Sleep laboratories need to renew protocols in order to guarantee the safety of patients and healthcare staff while providing exams. Polysomnography (PSG) examinations are essential for the diagnosis and treatment management of several sleep disorders, which may constitute a public or personal safety issue such as obstructive sleep apnea syndrome. Here we provide some practical advice on how to perform sleep studies after the COVID-19 outbreak based on our experience, the review of the existing literature and current national and international recommendations by Health Authorities. We believe that with appropriate precautions it is possible to guarantee a safe restart of PSG and other sleep studies.

Objective: Sleep-related hypermotor epilepsy (SHE) is a focal epilepsy characterized by seizures occurring mostly during sleep, ranging from brief seizures with paroxysmal arousals (SPAs) to hyperkinetic seizures and ambulatory behaviors. SPAs are brief and stereotypic seizures representing the beginning of a major seizure. Distinguishing SPAs from disorders of arousal (DOAs) and their briefest episodes called simple arousal movements (SAMs) is difficult. We performed a characterization of SPAs and SAMs to identify video-polysomnographic (VPSG) features that can contribute to the diagnosis of SHE or DOA. Methods: Fifteen SHE, 30 DOA adult patients, and 15 healthy subjects underwent full-night VPSG. Two neurologist experts in sleep disorders and epilepsy classified all the sleep-related movements and episodes recorded. For each SPAs and SAMs, sleep stage at onset, duration, limb involvement, progression, and semiology have been identified. Results: A total of 121 SPAs were recorded, emerging mostly during stage 1-2 non–rapid eye movement (NREM) sleep (median duration: 5seconds). At the beginning, the SPAs motor pattern was hyperkinetic in 78 cases (64%), involving more than three non-contiguous or all body parts. The standard was a constant progression of movements during SPAs without any motor arrests. In DOA patients a total of 140 SAMs were recorded (median duration: 12seconds) mostly emerging during stage 3 NREM sleep. In SAMs, we did not observe any tonic/dystonic or hypermotor patterns or stereotypy; motor arrest was present over the course of about half of the episodes. In comparison with both DOA and healthy subjects, SHE patients showed a higher number of sleep-related movements per night and a reduction of sleep efficiency. Significance: SPAs and SAMs present different semiological and clinical features. Their recognition could be useful to drive the diagnosis when major episodes are not recorded during VPSG in patients with a clear clinical history of SHE or DOA.

This case-control study aimed to identify and validate behavioral markers supporting the diagnosis of disorders of arousal (DOA) with video polysomnography.All behaviors associated with 1,335 episodes of N3 interruptions were compared in 52 adult patients with DOA versus 52 participants without DOA (healthy control patients and patients with insomnia, hypersomnia, or sleep apnea syndrome).Patients with DOA had more frequent (5.1 ± 2.4 versus 3.4 ± 1.9 interruptions/N3 time) and longer (35.8 ± 33 versus 23.1 ± 21.4 sec) arousals and awakenings from N3 than control patients. In the DOA group, the onset of behaviors was more abrupt, and behaviors including eye opening (69% versus 16%), head raising (41% versus 9%), visually exploring the environment (27% versus 1%), expression of fear/surprise (21% versus zero), speaking (18% versus 0.3%), trunk raising (13% versus 0.3%), and interacting with the environment (13% versus 0.5%), were (unlike quiet, comfort behaviors) more frequent than in control patients. A cutoff of two or more N3 interruptions containing eye opening yielded a sensitivity of 94.2% and a specificity of 76.9% for a DOA diagnosis. This accuracy was confirmed in a second set of data (second night of monitoring). Behaviors including an expression of fear/surprise (67.3%), sitting (32.7%), screaming, and standing up were specific to patients with DOA.A simple, behavioral video marker of behavioral reactions during N3 interruption (ie, opening the eyes at least two times in the same night) was sensitive, specific, and reproducible for discriminating patients with DOA from sleep laboratory control patients.This study is a surrogate study of NCT02648568 and NCT03074578 on ClinicalTrials.gov.

Objective The main objective of this study was to study rapid eye movement (REM) sleep behavior disorder (RBD) and other sleep disorders in dementia with Lewy bodies (DLB). Methods Consecutive patients with DLB and mild dementia severity were recruited irrespective of sleep complaints. Patients underwent clinical interview, assessment of sleep scales, and video-polysomnography (V-PSG). RBD was diagnosed with V-PSG based on electromyographic and audiovisual analysis. Results Thirty-five patients (65.7% men; mean age 77.7 ± 6.1 years) were evaluated. Poor sleep quality (54.3%), hypersomnia (37.1%), snoring (60%), and abnormal nocturnal behaviors (77.1%) were reported. Sleep–wake architecture abnormalities occurred in 75% patients and consisted of occipital slowing on awake electroencephalography (EEG; 34.4%), the absence of sleep spindles and K complexes (12.9%), slow frequency sleep spindles (12.9%), delta activity in REM sleep (19.2%), and REM sleep without atonia (44%). Three patients showed hallucinatory-like behaviors and 10 patients showed abnormal behaviors during arousals mimicking RBD. RBD was diagnosed in 50% of those patients in whom sufficient REM sleep was attained. Of these, 72.7% were not aware of displaying dream-enacting behaviors and in 63.7% RBD preceded the onset of cognitive impairment. For RBD diagnosis, the sensitivity of Mayo Sleep Questionnaire was 50%, specificity was 66.7%, positive predictive value was 83.3%, and negative predictive value was 28%. False-positive RBD cases according to clinical history had hallucinatory-like behaviors, severe obstructive sleep apnea, and prominent periodic limb movements in sleep. Occipital EEG frequency while awake and rate of electromyographic activity in REM sleep were negatively correlated, suggesting a common subcortical origin. Conclusion In DLB, RBD and sleep–wake disorders are common, heterogeneous, and complex, challenging their identification without performing V-PSG.

Background: The brain stem is found to be impaired in multiple system atrophy-cerebellar types (MSA-C). Rapid eye movement (REM) sleep behavior disorder (RBD) is reported as a marker of progressive brain stem dysfunction. Few systematic studies about the sleep disturbances in MSA-C patients combined with or without RBD were reported. This study aimed to explore the polysomnographic (PSG) features of sleep disturbances between MSA-C patients with and without RBD. Methods: Totally, 46 MSA-C patients (23 with RBD, and 23 without RBD) were enrolled in this study. All patients underwent a structured interview for their demographic data, history of sleep pattern, and movement disorders; and then, overnight video-PSG was performed in each patient. All the records were evaluated by specialists at the Sleep Medicine Clinic for RBD and the Movement Disorder Clinic for MSA-C. The Student's t -test, Mann-Whitney U -test for continuous variables, and the Chi-square test for categorical variables were used in this study. Results: MSA-C patients with RBD had younger visiting age (52.6 ± 7.4 vs. 56.7 ± 6.0 years, P = 0.046) and shorter duration of the disease (12.0 [12.0, 24.0] vs. 24.0 [14.0, 36.0] months, P = 0.009) than MSA-C patients without RBD. MSA-C with RBD had shorter REM sleep latency (111.7 ± 48.2 vs. 157.0 ± 68.8 min, P = 0.042), higher percentage of REM sleep (14.9% ±4.0% vs. 10.0% ± 3.2%, P = 0.019), and lower Stage I (9.5% ±7.2% vs. 15.9% ±8.0%, P = 0.027) than MSA-C without RBD. Moreover, MSA-C patients with RBD had more decreased sleep efficiency (52.4% ±12.6% vs. 65.8% ±15.9%, P = 0.029) than that without RBD. Conclusions: In addition to the RBD, MSA-C patients with RBD had other more severe sleep disturbances than those without RBD. The sleep disorders of MSA patients might be associated with the progress of the disease.

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.

Nocturnal frontal lobe epilepsy (NFLE) is a focal epilepsy with seizures arising mainly during sleep and characterized by complex, often bizarre, motor behavior or sustained dystonic posturing. First described in 1981, it was initially considered a motor disorder of sleep and was named nocturnal paroxysmal dystonia (NPD). The unusual seizure semiology, onset during sleep, and often uninformative scalp EEG and brain MRI make it difficult to distinguish NPD attacks from other non-epileptic nocturnal paroxysmal events, namely parasomnias. The long-debated epileptic origin of the condition was finally demonstrated in 1990 and the term NFLE introduced. Even though many aspects of parasomnias and NFLE have been clarified in the last two decades, the differential diagnosis remains a challenge for clinicians. To address controversial issues and define the diagnostic criteria for NFLE, a Consensus Conference was held in Bologna, Italy in 2014. Major points of agreement emerged on: (i) the relationship of the seizures with sleep and not with the circadian pattern of seizure occurrence; (ii) the possible extrafrontal origin of hypermotor seizures, without substantial differences in seizure semiology. In the wake of the Consensus, the syndrome was renamed Sleep-Related Hypermotor Epilepsy (SHE).

Recent advances in electrophysiological [e.g., surface high-density electroencephalographic (hd-EEG) and intracranial recordings], video-polysomnography (video-PSG), transcranial stimulation and neuroimaging techniques allow more in-depth and more accurate investigation of the neural correlates of dreaming in healthy individuals and in patients with brain-damage, neurodegenerative diseases, sleep disorders or parasomnias. Convergent evidence provided by studies using these techniques in healthy subjects has led to a reformulation of several unresolved issues of dream generation and recall [such as the inter- and intra-individual differences in dream recall and the predictivity of specific EEG rhythms, such as theta in rapid eye movement (REM) sleep, for dream recall] within more comprehensive models of human consciousness and its variations across sleep/wake states than the traditional models, which were largely based on the neurophysiology of REM sleep in animals. These studies are casting new light on the neural bases (in particular, the activity of dorsal medial prefrontal cortex regions and hippocampus and amygdala areas) of the inter- and intra-individual differences in dream recall, the temporal location of specific contents or properties (e.g., lucidity) of dream experience and the processing of memories accessed during sleep and incorporated into dream content. Hd-EEG techniques, used on their own or in combination with neuroimaging, appear able to provide further important insights into how the brain generates not only dreaming during sleep but also some dreamlike experiences in waking.

Background REM-sleep behavior disorder (RBD) therapy is based on small to medium-sized case series, as no large controlled clinical trials have been performed. The most used and widely recognized effective drugs are clonazepam and melatonin, with anecdotal reports on the potential benefit of other drug classes. Methods We report on two patients suffering from idiopathic RBD presenting with almost nightly complex and violent episodes, refractory to conventional drugs. Both patients, after informed consent, were treated off-label with sodium oxybate in add-on therapy. We followed up the patients in order to assess treatment efficacy by means of clinical interview, visual analog scales (VAS) for frequency and severity, Clinical Global Impression (CGI) improvement scale and efficacy index, video-polysomnography and at-home actigraphy. Results Sodium oxybate intake was well tolerated and effective in reducing the number and intensity of RBD episodes; patients reported no new traumatic episodes. Results were confirmed by bed-partner reports, VAS, CGI improvement scale and efficacy index, and at-home actigraphic monitoring, the latter showing a trend of improvement in nocturnal sleep quality and reduction in motor activity, compared to the baseline. Nevertheless, video-polysomnography did not show a clear beneficial effect on sleep-related electromyographic parameters. Conclusions Our cases suggest that sodium oxybate can be an effective add-on option for the treatment of idiopathic RBD refractory to conventional therapies. The lack of improvement of polysomnographic parameters suggests caution in considering only polysomnographic data as endpoints in the assessment of the efficacy of therapies for RBD, and that long-term home-based assessment seems a promising tool.

To outline specific sleep disturbances in different clinical subsets of Attention Deficit/Hyperactivity Disorder (ADHD) and to confirm, by means of nocturnal video-polysomnography (video-PSG), a variety of sleep disorders in ADHD besides the classically described periodic leg movement disorder (PLMD), restless legs syndrome (RLS) and sleep related breathing disorder (SRBD).Fifty-five ADHD children (47 M, 8F; mean age=8.9 y) were included: 16 had Inattentive and 39 Hyperactive/Impulsive or Combined ADHD subtype. Behavior assessment by Conners and SNAP-IV Scales, a structured sleep interview and a nocturnal video-PSG were administered.Most children/parents reported disturbed, fragmentary sleep at night; complaints were motor restlessness (50%), sleep walking (47.6%), night terrors (38%), confusional arousals (28.5%), snoring (21.4%), and leg discomfort at night associated with RLS (11.9%). There is a significant difference (p value0.05 or0.001) in almost all the studied sleep variables between ADHD children and controls. International RLS Rating Scale scoring, Periodic Limb Movements during Sleep (PLMS) and Wake (PLMW) indexes, hyperactivity and opposition scores and ADHD subtype appear related. Different sleep disorders seem to address specific ADHD phenotypes and correlate with severity of symptoms as in sleep related movement disorders occurring in Hyperactive/Impulsive and Combined ADHD subtypes. Besides, an abnormality of the arousal process in slow wave sleep with consequent abnormal prevalence of disorders of arousal possibly enhanced by SRBD has also been detected in 52% of our sample.This study underlines the opportunity to propose and promote the inclusion of sleep studies, possibly by video-PSG, as part of the diagnostic screening for ADHD. This strategy could address the diagnosis and treatment of different specific ADHD phenotypic expressions that might be relevant to children's symptoms and contribute to ADHD severity.

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.

Clinical and polygraphic hallmarks of type 1 narcolepsy (NT1) are the occurrence of episodes of rapid eye movement (REM) sleep at the onset of nocturnal or daytime sleep (SOREMP) and dissociated wake–REM sleep manifestations (cataplexy, sleep paralysis, hallucinations) [1]. Some recent neurophysiological findings, demonstrating that SOREMP in NT1 lacks the typical sympathetic activation of REM sleep [2], support that SOREMP per se may also be an REM sleep–wakefulness dissociation in NT1. Moreover, several behavioral and cognitive phenomena may surface during SOREMPs: REM sleep behavior disorder (RBD), characterized by loss of REM sleep muscle atonia coupled with dream-enacting behaviors [3]; cataplexy (episodes of suddenmuscular weakness triggered by emotions) [4]; dream lucidity (maintenance of reality testing and volitional control of thinking while dreaming) [5,6]; hallucinatory phenomena such as flying sensation [7]; and out-of-body experiences (OBE; metamorphosis or exit of the self from the body) [8]. We report here an NT1 patient showing the co-occurrence of several dissociatedmental andmotor features of REM sleep during the same daytime SOREMPs. 2. Case description

Rapid eye movement (REM) sleep behavior disorder (RBD) can occur in the absence of any other obvious asso- ciated neurologic disorder or in association with a neurodegenerative disease, in which case it is considered as symptomatic RBD. RBD is frequently associated with Parkinson’s disease (PD), Lewy body dementia or multiple system atrophy (MSA), and in several cases may even antedate the occurrence of motor symptoms by decades. When no neurologic disorder is obvious, RBD can be considered as idiopathic (iRBD). Several studies have looked at neurophysiologic and neuropsychological functions in iRBD and have found evidence of CNS dysfunc- tion during both wakefulness and sleep in a variable proportion of these patients, challenging the concept of iRBD. Identifying subjects with a high risk of developing a neurodegenerative process may be crucial in order to develop early intervention strategies. Some prospective results in iRBD showed that potential markers of neuro- degeneration are the following: 1) marked EEG slowing on spectral analysis; 2) decreased striatal 123I-FPCIT; 3) impaired color vision.

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 SaO 2 was 92.7%, and lowest SaO 2 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.

Introduction Morvan chorea is an antibody-mediated limbic encephalopathy characterized by severe insomnia, mental confusion, hallucinations, enacted dreams, hyperhidrosis, and neuromyotonia. Case description In a 78 years old man presenting with progressive insomnia apathy and depression, a video-polysomnogram documented enacted dreams mimicking daily life activity (oneiric stupor). This finding led us to perform a search for serum antibodies to voltage-gated K+ channels, which was positive. A diagnosis of Morvan chorea was done. The patient underwent plasma exchange with complete resolution of the clinical picture. Conclusions Oneiric stupor may represent a useful precocious diagnostic marker in Morvan chorea.

1389-9457/$ see front matter 2012 Elsevier B.V. All rights reserved. doi:10.1016/j.sleep.2011.08.006 ⇑ Corresponding author. Address: Department of Neurology I.C., Oasi Institute, Via C. Ruggero 73, 94018 Troina, Italy. Tel.: +39 0935 936111; fax: +39 0935 936694. E-mail addresses: rferri@oasi.en.it, raffaele.ferri@ticali.it (R. Ferri). will be enriched by the contributions of our colleagues who wish to offer stimulating opportunities for discussion and new insights into the field of sleep.

Since the first descriptions of Nocturnal Frontal Lobe Epilepsy (NFLE) many theories have been proposed to explain its pathophysiological mechanisms. The aim of this paper is to formulate a tentative hypothesis designed to unify the clinical, anatomo-physiological, and genetic aspects underlying this condition. According to this hypothesis, NFLE is due to a disorder in the thalamocortical circuit involved in the arousal mechanism. Other cortical-networks involving the limbic system may explain, for instance, primitive behaviors. The role of the cholinergic system and related pathways in the pathogenesis of nocturnal seizures and parasomnias is also discussed.

Nocturnal frontal lobe epilepsy (NFLE) is characterized by seizures with complex, often bizarre, violent behaviour arising only or mainly during sleep. These unusual seizures and their occurrence during sleep are often accompanied by normal EEG tracings and neuroradiological findings, making it difficult to distinguish NFLE seizures from other non-epileptic nocturnal paroxysmal events, namely parasomnias. NFLE was described for the first time in 1981, but, as its epileptic origin was controversial, the condition was called nocturnal paroxysmal dystonia. Even though many aspects of parasomnias and NFLE have been clarified in the last two decades, the problem of differential diagnosis remains a challenge for clinicians. This paper discusses some controversial points still under debate. The difficulties in distinguishing nocturnal epileptic seizures from parasomnias reflect just one aspect of the intriguing issue of the pathophysiological relationships between all types of paroxysmal motor behaviours during sleep.

This section is a new feature of Sleep Medicine allowing readers to submit unique sleep related cases with video segments as a way to enhance educational value in a manner unattainable through paper format. Please see our web site’s (http://ees.elsevier.com/ sleep/) Guide for Authors for instructions. We hope this section will be enriched by the contributions of our colleagues who wish to offer stimulating opportunities for discussion and new insights into the field of sleep.

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.