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Rapid eye movement sleep behavior disorder (RBD) is highly comorbid with Parkinson’s disease (PD). Emerging evidence suggests that dopamine-replacement therapies (DRTs) for PD may modify the course of RBD, yet the nature of the association between DRTs and RBD remains unclear. To begin addressing this issue, we conducted a preliminary retrospective study to document whether DRTs are associated with the occurrence of RBD symptoms in PD patients. The study included 250 PD patients who were screened for probable RBD via the RBD Screening Questionnaire (RBDSQ). For each patient, disease severity data were collected, in addition to their therapy and the associated levodopa equivalent daily dose (LEDD). The association between DRTs and RBDSQ scores was analyzed using logistic regression and correlation models. RBD scores were found to be associated with the LEDD of levodopa alone, but not of dopaminergic agonists (mainly D2/D3 receptor agonists) or their combination with levodopa. This association was not accounted for patient age or Hoehn and Yahr (H&Y) severity scores. Our study detected a significant association between doses of levodopa and RBD symptoms in PD patients. Future longitudinal studies are needed to establish what causal nexus may link these variables.

Study Objectives: Disorder of arousal (DOA) and sleep-related hypermotor epilepsy (SHE) are complex, often bizarre, involuntary sleep behaviors, whose differential diagnosis may be challenging because they share some clinical features, such as sleep fragmentation. Mounting evidence highlights the critical role of sleep in cognitive functions. Controversial findings are raised about the cognitive profile in SHE; however, no studies have investigated the cognitive profile in DOA. This study aimed to assess whether sleep instability affects cognitive functions in patients with SHE or DOA. Methods: This study analyzed 11 patients with DOA, 11 patients with SHE, and 22 healthy controls (HC). They underwent full-night video polysomnography (vPSG) and comprehensive neuropsychological and behavioral evaluation. Differences in the variables of interest among the SHE group, DOA group, and their respective control groups were evaluated. The auto-contractive map (auto-CM) system was used to evaluate the strength of association across the collected data. Results: The SHE group had reduced sleep efficiency and increased wake after sleep onset (WASO); both the SHE and DOA groups showed increased % of N2 and REM sleep compared to the HC group. Neuropsychological and behavioral evaluations showed a different cognitive profile in the SHE group with respect to the HC group. The auto-CM showed that Pittsburgh Sleep Quality Index (PSQI), Beck depression inventory (BDI), MWCST_PE, Epworth sleepiness scale (ESS), WASO, N1, and % REM were strictly correlated with SHE, whereas the SE and arousal index (AI) were strictly related to DOA. Conclusions: Patients with SHE and DOA present different cognitive and psychiatric profiles, with subtle and selective cognitive impairments only in those with SHE, supporting the discriminative power of cognitive and psychiatric assessment in these two conditions.

Background Shift rotation schemes can influence workers’ tolerance of night-shift work and its impact on health. Aims This study was aimed to assess the influence of shift work rotation schemes on sleepiness and sleep quality. Methods We conducted a cross-sectional study of 145 male workers, 77 from a ceramic tile factory on a fixed, forward-rotating shift work scheme, and 68 from a dockyard company, working on-call night shifts. Participants self-administered the Epworth Sleepiness Scale (ESS) and the Pittsburgh Sleep Quality Index (PSQI) questionnaires and provided data on demographic and lifestyle variables. We set two logistic regression models to predict the risk of daytime sleepiness and poor sleep quality as a function of night-shift work and on-call night shifts, adjusting for personal and lifestyle covariates. Results Marital status, body mass index, smoking and alcohol intake did not affect ESS and PSQI scores, nor did they differ between the two cohorts. Night-shift workers from both cohorts were more likely to have a PSQI score ≥6, suggestive of poor sleep quality, with no variation between the two cohorts. ESS scores suggestive of daytime sleepiness were strongly associated with on-call night shifts among dockyard workers for (odds ratio = 13.4; 95% confidence interval 2.9–63.9), in respect the regular, forward-rotating night-shift work among ceramic tile factory workers. Discussion Daytime sleepiness occurred more frequently among dockyard workers working on-call night shifts. Poor sleep quality occurred more frequently among night-shift workers, but it did not differ between the two companies.

Traumatic brain injury (TBI) is an important cause of death and disability at all ages in the world. Complete functional recovery is not always complete, and, often, persistent symptoms may last for a long time. Sleep disorders and sleep-wake alterations are among the most common complications both in the acute and chronic phases after the trauma, and they may have a negative impact on daily activities and on quality of life of these patients. Sleep and sleep-wake cycle are not always carefully assessed in patients after TBI, they are overlooked, and often patients have a persistent excessive daytime sleepiness, even for years after the TBI, without receiving a proper diagnosis and treatment. Moreover, scientific evidence has been provided for the role of sleep in neuroprotection and recovery after brain injury; hence, promoting an optimal sleep function and early diagnosing and treating sleep disorders may be helpful for rehabilitation and functional recovery of patients after TBI.

Sleep-related movements comprise a broad spectrum of simple and usually stereotyped movements that are sometimes associated with sleep disturbance (insomnia, sleep fragmentation, and non-restorative sleep). They may represent a physiological variant or a sleep disorder, depending on their intensity, frequency, and associated sleep disruption degree. Sleep-related movements involve usually the lower limbs; they can be idiopathic or associated with other sleep disorders, neurological disease, and medical condition or occur as a consequence of drug use. Several pathophysiological hypotheses have been proposed, but for the majority of these disorders, the neurobiological mechanism is far from being completely understood. Further studies are needed to elucidate the pathophysiology of sleep-related movements in order to better appreciate their clinical significance. This chapter describes the neurobiology of sleep-related movements, namely, periodic limb movements, alternating leg muscle activation, hypnagogic foot tremor, high-frequency myoclonus, excessive fragmentary myoclonus, propriospinal myoclonus at sleep onset, neck myoclonus during sleep, sleep bruxism, sleep-related rhythmic movement disorder, sleep-related leg cramps, and sleep starts. We also present a mechanistic model of the potential role of the spinal central pattern generator for locomotion in generating the leg movements.

REM sleep without atonia (RSWA) is the polysomnographic (PSG) hallmark of rapid eye movement (REM) sleep behavior disorder (RBD), a feature essential for the diagnosis of this condition. Several additional neurophysiological aspects of this complex disorder have also recently been investigated in depth, which constitute the focus of this narrative review, together with RSWA. First, we describe the complex neural network underlying REM sleep and its muscle atonia, focusing on the disordered mechanisms leading to RSWA. RSWA is then described in terms of its polysomnographic features, and the methods (visual and automatic) currently available for its scoring and quantification are exposed and discussed. Subsequently, more recent and advanced neurophysiological features of RBD are described, such as electroencephalography during wakefulness and sleep, transcranial magnetic stimulation, and vestibular evoked myogenic potentials. The role of the assessment of neurophysiological features in the study of RBD is then carefully discussed, highlighting their usefulness and sensitivity in detecting neurodegeneration in the early or prodromal stages of RBD, as well as their relationship with other proposed biomarkers for the diagnosis, prognosis, and monitoring of this condition. Finally, a future research agenda is proposed to help clarify the many still unclear aspects of RBD.

Study ObjectivesThe neurophysiological hallmark of REM sleep behavior disorder (RBD) is loss of atonia during REM sleep. Indeed, signs and symptoms of neurodegeneration can occur after years, even decades, from its beginning. This study aimed to measure neurophysiological alterations of the brainstem that potentially correlate with the severity of atonia loss, and determining whether a prodromal neurodegenerative disorder underlines this condition when it occurs as an isolated condition (iRBD).MethodsSubjects with iRBD and matched healthy controls were recruited. The study included the recording of one-night polysomnography, vestibular-evoked myogenic potentials (VEMPs), and a [123I]-FP-CIT dopamine transporter (DAT) scan. The quantification of REM sleep without atonia (RSWA) was made according to two previously published manual methods and one automated method.ResultsThe rate of alteration of VEMPs and VEMP score were significantly higher in iRBD patients than controls. Moreover, VEMP score was negatively correlated with the automated REM atonia index; a marginal statistical significance was also reached for the positive correlation with the visual tonic electromyographic parameter, while the other correlations, including that with DAT-scan score were not statistically significant.ConclusionsBrainstem neurophysiology in iRBD can be assessed by VEMPs and their alterations may possibly indicate an early expression of the neurodegenerative process underlying this disorder at the brainstem level, which awaits future longitudinal confirmation. The correlation between RSWA and VEMP alteration might also represent a prodromal aspect anticipating the possible evolution from iRBD to neurodegeneration, whereas DAT-scan abnormalities might represent a later step in this evolution.

Study Objectives Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease due to loss of motor neurons. However, the autonomic nervous system (ANS) can also be involved. The aim of this research was to assess the sleep macro- and microstructure, the cardiac ANS during sleep, and the relationships between sleep, autonomic features, and clinical parameters in a cohort of ALS patients. Methods Forty-two consecutive ALS patients underwent clinical evaluation and full-night video-polysomnography. Only 31 patients met inclusion criteria (absence of comorbidities, intake of cardioactive drugs, or recording artifacts) and were selected for assessment of sleep parameters, including cyclic alternating pattern (CAP) and heart rate variability (HRV). Subjective sleep quality and daytime vigilance were also assessed using specific questionnaires. Results Although sleep was subjectively perceived as satisfactory, compared with age- and sex-matched healthy controls, ALS patients showed significant sleep alteration: decreased total sleep time and sleep efficiency, increased nocturnal awakenings, inverted stage 1 (N1)/stage 3 (N3) ratio, reduced REM sleep, and decreased CAP rate, the latter supported by lower amounts of A phases with an inverted A1/A3 ratio. Moreover, a significant reduction in HRV parameters was observed during all sleep stages, indicative of impaired autonomic oscillations. Conclusion Our results indicate that sleep is significantly disrupted in ALS patients despite its subjective perception. Moreover, electroencephalogram activity and autonomic functions are less reactive, as shown by a decreased CAP rate and a reduction in HRV features, reflecting an unbalanced autonomic modulation.

Objective The aim of this study was to quantitatively analyze, with the most recent and advanced tools, the presence of periodic leg movements during sleep (PLMS) and/or rapid eye movement (REM) sleep without atonia (RSWA), in a group of patients with amyotrophic lateral sclerosis (ALS), and to assess their eventual correlation with the clinical severity of the disease. Methods Twenty-nine ALS patients were enrolled (mean age 63.6 years) along with 28 age-matched "normal" controls (mean age 63.8 years). Functional impairment due to ALS was evaluated using the ALS-Functional Rating Scale-Revised (ALS-FRS) and the ALS severity scale (ALSSS). Full video polysomnographic night recordings were obtained, and PLMS were analyzed by considering their number/hour of sleep and periodicity index, the distribution of intermovement intervals, and the distribution during the night. The characteristics of the chin electromyogram (EMG) amplitude during REM sleep were analyzed by means of the automatic atonia index and the number of chin EMG activations (movements). Results The ALS patients showed longer sleep latency than the controls, together with an increase in number of stage shifts, increased sleep stage 1, and decreased sleep stage 2. None of the leg PLMS parameters were different between the ALS patients and controls. The REM atonia index was significantly decreased in the ALS patients, and the number of chin movements/hour tended to increase. Both REM atonia index and number of chin movements/hour correlated significantly with the ALS-FRS; REM atonia was higher and chin movements were less in ALS patients with more preserved function (higher scores on the ALS-FRS). Conclusion Abnormal REM sleep atonia seemed to be a genuine effect of ALS pathology per se and correlated with the clinical severity of the disease. It is unclear if this might constitute the basis of a possible risk for the development of REM sleep behavior disorder or represent a form of isolated RSWA in ALS.

This paper aims to explore the relationship between impulse-control disorders (ICDs) and sleep problems in patients with Parkinson’s disease (PD) among scientific literature. Previously published results are controversial and sometimes inconclusive. ICDs and sleep disruption represent important non-motor features of Parkinson’s disease, responsible for reducing quality of life and increasing burden of disease. The relationship between sleep problems and ICDs is complex and bidirectional. Indeed, sleep disturbances and fragmentation may play a crucial role in increasing susceptibility to impulsive behavior and may represent a risk factor for developing ICDs in PD patients. Moreover, REM sleep behavior disorder (RBD) and restless legs syndrome (RLS) have been indicated as independent risk factors for ICDs in PD patients. On the other hand, also ICDs may lead to sleep restriction and fragmentation, suggesting a bidirectional relationship. The association between sleep problems and ICDs in PD is far from being completely understood. Further studies are needed to confirm the nature of this relationship and its pathophysiology.

The inability to tonically inhibit muscle tone during REM sleep results in REM sleep without atonia (RWA, RSWA) that represents the polysomnographic (PSG) hallmark of REM sleep behavior disorder (RBD). Different visual/manual RWA scoring methods have been developed to establish cutoff values for normal atonia during REM sleep with the aim to exactly quantify REM sleep atonia. The first method for quantifying RWA was developed by Lapierre and Montplaisir (which will be called here the Montreal method) in 1992. Subsequently, other research groups introduced their scoring methods such as the SINBAR method (2008) proposed by the Barcelona and Innsbruck groups and the McCarter-St. Louis method (2014) that was adapted from previous methods. Furthermore, in order to obtain a more rapid and reproducible scoring method, in 2008, a computer-based quantitative automatic scoring algorithm, also known as REM sleep atonia index (RAI), was proposed. (Also, other automated algorithms have been proposed.) According to the current ICSD-3 criteria, for the diagnosis of RBD, PSG demonstration of RWA is required. Nevertheless, RWA and RBD can occur independently from each other, and there is a “gray zone” into which both RBD patients and normal controls can fall. Because of its potential prognostic value, an important but still unresolved issue is whether subjects without RBD but with RWA are at risk of developing RBD, and/or future parkinsonism, or not. In conclusion, the role of RWA in the diagnosis of RBD is certainly central, but not absolute in regard to cutoff values, and an appropriate clinical judgment should guide the diagnostic process of RBD, as encouraged in the ICSD-3.

Restless legs syndrome, also known as Willis-Ekbom disease (RLS/WED), is a frequent condition, though its pathophysiology is not completely understood. The diagnosis of RLS/WED relies on clinical criteria, and the only instrumental tool, the suggested immobilization test, may lead to equivocal results. Recently, neurophysiological parameters related to F-wave duration have been proposed as a diagnostic aid. The aim of this study is to assess and compare the diagnostic values of these parameters in diagnosis of RLS/WED.Fifteen women affected by primary RLS/WED and 17 age- and sex- matched healthy subjects. A complete electroneurographic evaluation, including nerve conduction studies (NCS), cutaneous silent period (CSP), and F-wave parameters, namely amplitude, F-wave duration (FWD), and the ratio between FWD and duration of the corresponding compound muscle action potential (FWD/CMAPD).No subject showed alterations of the NCS. However, FWD and FWD/CMAPD of both upper and lower limbs were significantly longer in patients than controls. Tibial FWD/CMAPD best discriminated RLS/WED patients from controls. A cutoff of 2.06 yielded a sensitivity of 69.2%, a specificity of 94.1%, a positive predictive power of 90%, and a negative predictive power of 80% (area under the curve = 0.817; 95% confidence interval = 0.674-0.959). The combination of ulnar or tibial FWD/CMAPD increases the sensitivity (85.7%) while slightly decreasing the specificity (87.5%, positive predictive value: 85.7%, negative predictive value: 87.5%).Lower limb FWD/CMAPD ratio may represent a supportive diagnostic tool, especially in cases of evening lower leg discomfort of unclear interpretation.

Objective To assess sleep characteristics and the occurrence of abnormal muscle activity during sleep, such as REM sleep without atonia (RSWA), REM sleep behavior disorder (RBD), and periodic leg movements during sleep (PLMS), in patients with amyotrophic lateral sclerosis (ALS). Methods A total of 41 patients with ALS and 26 healthy subjects were submitted to clinical interview and overnight video-polysomnography. Results A total of 22 patients with ALS (53.6%) reported poor sleep quality. Polysomnographic studies showed that patients with ALS had reduced total sleep time, increased wakefulness after sleep onset, shortened REM and slow-wave sleep, and decreased sleep efficiency, compared to controls. Polysomnographic abnormalities were not different in patients reporting good or poor sleep and were not correlated to clinical and demographic variables. The PLMS index was significantly higher in patients with ALS than in healthy subjects, and 22 patients (53.6%) showed a PLMS index > 15/h, vs 4 (15.4%) controls (P < 0.001). Finally, two patients with ALS (4.9%) had RBD, and two more patients presented RSWA (4.9%), whereas no controls showed abnormalities of REM sleep. Conclusion Patients with ALS frequently present abnormalities of sleep that can be documented both at the clinical interview and at the polysomnographic evaluation, including insomnia, fragmented sleep, and increased PLMS. Moreover, abnormalities of REM sleep can be found in some of these patients.

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Jeune syndrome (JS, also described as asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress. Significant life-threatening cervical spine abnormalities can be typical.Here we describe the case of a male infant of Sardinian origin, who developed respiratory distress and feeding difficulties from the first months, correlated with muscle\skeletal dysmorphism prevalent on chest. Nocturnal respiratory sleep alterations were reported from parents.After clinical, genetics, radiographic and cervical MRI investigations, ATD diagnosis with C1 stenosis. A full-night video-polysomnographic study was performed in order to evaluate the sleep apnea condition. The study showed a condition of tachipnea\tachicardia, with several short respiratory events during sleep, both obstructive and central type with apneahypopnea index (AHI) 17/ h, mean duration 3.7 sec with longest 20 sec.It can be hypothesized that the combination of altered respiratory and cardiac frequency is related to central type of sleep respiratory disorders consequent to C1 compression, while the obstructive minor component is related to thoracic restrictive disorders. Full night lab-polygraphy is recommended in dysmorphic skeletal disorders like JS.

Introduction Restless legs syndrome (RLS) is a frequent pathology, yet underrated and underestimated, affecting inasmuch as 5–10% of the population as a whole. However the pathophysiology has not been completely understood. The dopaminergic system has certainly a primary role, and some studies have highlighted a condition of spinal hyper-excitability. The aim of our study is to explore this hypothesis throughout the electrophysiological evaluation of the spinal and peripheral nervous system in primitives RLS patients. Materials and methods Among the patients affected by primitive RLS admitted to our Sleep Centerlab, we selected 15 women, and compared them with 17 control subjects of the same sex and age. All subjects had undergone ENG evaluation to exclude any secondary causes of lower limb paresthesia and to evaluate spinal excitability. According to a previous study, we considered two parameters which can be easily extracted from the routine tests normally carried out in the neurophysiopathology labs, the duration of F waves (FWD) of the Internal Popliteal (IPN) and ulnar nerves, and the relationship between FWD and the duration of the corresponding CMAP (CMAPD). Results None of the subjects (RLS and controls) included in our study presented alterations in the nerve conduction velocity. Compared to the control group, significantly higher values were found in the RLS patients for the FWD/CMAPD ratio average (p 0.001 test Mann–Whitney) and for the FWD average for both nerves ulnar (p 0.05 unpaired t-test) and IPN (p 0.01 unpaired t-test). Conclusion The results of our study confirm the absence of peripheral involvement in primitive RLS, while they indicate a spinal motorneuronal hyper-excitability, which seems widespread, as both IPN and ulnar nerve stimulation indicators are altered. Such condition could be due mainly to an alteration of the modulation in the interneuronal system. Presently, RLS diagnosis is based exclusively on clinical criteria. The FWD/CMAPD ratio can help to shed light on the pathogenesis of RLS, and can be used as an instrumental diagnostic indicator, easily obtainable and useful especially in cases of lower leg discomfort at night of unclear interpretation. Acknowledgements The authors would like to thank Prof. F. Marrosu and Dr. M. Fraschini, University of Cagliari, Italy, and Prof. L. Parrino, University of Parma, Italy, for their important contribution.

Introduction In the last few years, it has been increasingly recognized that patients with amyotrophic lateral sclerosis (ALS) frequently suffer of sleep-related complaints, including insomnia, restless legs syndrome, and daytime sleepiness, although, in the past, many of the nocturnal symptoms have been mainly ascribed to chronic respiratory insufficiency and hypoventilation. In addition, excluding few single cases reported, polysomnographic studies did not look for abnormal motor activity during sleep that could be indicative of Rapid Eye Movements (REM) sleep behavior disorder (RBD) and REM sleep without atonia (RSWA), which are highly prevalent in other neurodegenerative disorders with brainstem involvement. Finally, data on the presence of periodic leg movements in sleep (PLMS) in patients with ALS are sparse. We sought to assess sleep characteristics and the occurrence of abnormal muscle activity during sleep, such as RSWA, RBD, and PLMS in patients with ALS. Materials and methods Forty-one patients with ALS and 26 healthy subjects were submitted to clinical interview and overnight video-polysomnography. Results Twenty-two patients with ALS (53.6%) reported poor sleep quality. Polysomnographic studies showed that patients with ALS had reduced total time of sleep, increased wakefulness after sleep onset, shortened REM and slow wave sleep, and decreased sleep efficiency compared to control subjects. Polysomnographic abnormalities were not different in patients reporting good or poor sleep, and were not correlated to clinical and demographic variables. PLMS index was significantly higher in patients with ALS than in healthy subjects, and 22 patients (53.6%) showed a PLMS index > 15, vs 4 (15.4%) control subjects (p 0.001). Finally, two patients with ALS (4.9%) had RBD, and two more patients presented RSWA (4.9%), whereas no control subjects showed abnormalities of REM sleep. Conclusion Patients with ALS frequently present abnormalities of sleep that can be documented both at the clinical interview and at the polysomnographic evaluation, including insomnia, fragmented sleep, and increased PLMS. Moreover, abnormalities of REM sleep can sometimes be found in these patients. Acknowledgements The authors would like to thank Dr. A. Mattaliano, Ospedale Civico ARNAS of Palermo, Dr. V. La Bella, University of Palermo-Italy, and Dr. G. Borghero, University of Cagliari-Italy, for their important contribution.