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Y Dauvilliers - One of the best experts on this subject based on the ideXlab platform.
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Measurement of symptoms in Idiopathic Hypersomnia: The Idiopathic Hypersomnia Severity Scale
Neurology, 2019Co-Authors: Y Dauvilliers, Elisa Evangelista, Lucie Barateau, Régis Lopez, Sofiene Chenini, C. Delbos, Séverine Béziat, Isabelle JaussentAbstract:Objective To validate the Idiopathic Hypersomnia Severity Scale (IIHSS), a self-report measure of hypersomnolence symptoms, consequences, and responsiveness to treatment. Methods The 14-item IHSS (developed and validated by sleep experts with patients9 feedback) was filled in by 218 participants (2.3% missing data). Among the 210 participants who fully completed the IHSS, there were 57 untreated and 43 treated patients with Idiopathic Hypersomnia (IH) aged 16 years or older, 37 untreated patients with narcolepsy type 1 (NT1), and 73 controls without sleepiness. IHSS psychometric properties, discriminant diagnostic validity, and score changes with treatment were assessed. Results The IHSS showed good internal consistency and content validity. Factor analysis indicated a 2-component solution with good reliability expressed by satisfactory Cronbach α values. IHSS scores were reproducible without changes in the test–retest evaluation (13 treated and 14 untreated patients). Convergent validity analysis showed that IHSS score was correlated with daytime sleepiness, depressive symptoms, and quality of life in patients with IH. The IHSS score was lower in treated than untreated patients (5–8 unit difference, without ceiling effect). The cutoff value for discriminating between untreated and treated patients was 26/50 (sensitivity 55.8%, specificity 78.9%). IHSS scores were higher in drug-free IH patients than NT1 and controls. The best cutoff value to differentiate between untreated IH patients and controls was 22 (sensitivity 91.1%, specificity 94.5%), and 29 with NT1. Conclusions The IHSS is a reliable and valid clinical tool for the quantification of IH symptoms and consequences that might be useful for patient identification, follow-up, and management.
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Update on treatment for Idiopathic Hypersomnia
Expert opinion on investigational drugs, 2018Co-Authors: Elisa Evangelista, Régis Lopez, Y DauvilliersAbstract:Idiopathic Hypersomnia (IH) is a poorly characterized orphan central disorder of hypersomnolence responsible for excessive daytime sleepiness (EDS), prolonged nighttime sleep and sleep inertia that often require long-term symptomatic stimulant medication. To date, no drug has currently the authorization for the treatment of IH patients worldwide. Areas covered: The authors reviewed data on pharmacological treatment of IH obtained from published literature (Medline/PubMed/Web of Science) and Clinicaltrial.gov database from 1997 to 2017. Most of data on treatment of IH derived from observational studies and case series with only three well-designed clinical trials available. Expert opinion: In two recent randomized, double-blind, placebo-controlled trials, modafinil improves EDS in IH. Most of other wakefulness-promoting agents labeled for narcolepsy have similar efficacy in cases series of IH patients. Pitolisant and sodium oxybate show promising results in two retrospective studies. The efficacy of γ-aminobutyric acid-A receptor antagonists on objective EDS needs to be clarified. All these medications are used off-label for the management of EDS in IH. Specific clinical instruments and objective tests are required in IH to better evaluate the severity of EDS and responsiveness to medications, but also prolonged sleep and sleep inertia, to optimize the whole management of IH patients.
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Alternative diagnostic criteria for Idiopathic Hypersomnia: A 32-hour protocol
Annals of Neurology, 2018Co-Authors: Elisa Evangelista, Lucie Barateau, Régis Lopez, Sofiene Chenini, Isabelle Jaussent, Adriana Bosco, Y DauvilliersAbstract:OBJECTIVE: To assess the diagnostic value of extended sleep duration on a controlled 32-hour bed rest protocol in Idiopathic Hypersomnia (IH). METHODS: One hundred sixteen patients with high suspicion of IH (37 clear-cut IH according to multiple sleep latency test criteria and 79 probable IH), 32 with hypersomnolence associated with a comorbid disorder (non-IH), and 21 controls underwent polysomnography, modified sleep latency tests, and a 32-hour bed rest protocol. Receiver operating characteristic curves were used to find optimal total sleep time (TST) cutoff values on various periods that discriminate patients from controls. RESULTS: TST was longer in patients with clear-cut IH than other groups (probable IH, non-IH, and controls) and in patients with probable IH than non-IH and controls. The TST cutoff best discriminating clear-cut IH and controls was 19 hours for the 32-hour recording (sensitivity = 91.9%, specificity = 85.7%) and 12 hours (100%, 85.7%) for the first 24 hours. The 19-hour cutoff displayed a specificity and sensitivity of 91.9% and 81.2% between IH and non-IH patients. Patients with IH above the 19-hour cutoff were overweight, had more sleep inertia, and had higher TST on all periods compared to patients below 19 hours, whereas no differences were found for the 12-hour cutoff. An inverse correlation was found between the mean sleep latency and TST during 32-hour recording in IH patients. INTERPRETATION: In standardized and controlled stringent conditions, the optimal cutoff best discriminating patients from controls was 19 hours over 32 hours, allowing a clear-cut phenotypical characterization of major interest for research purposes. Sleepier patients on the multiple sleep latency test were also the more severe in terms of extended sleep. Ann Neurol 2018;83:235-247.
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18f fludeoxyglucose positron emission tomography evidence for cerebral hypermetabolism in the awake state in narcolepsy and Idiopathic Hypersomnia
Frontiers in Neurology, 2017Co-Authors: Y Dauvilliers, Elisa Evangelista, Lucie Barateau, Delphine De Verbizier, Philippe PeigneuxAbstract:Background: Changes in structural and functional central nervous system have been reported in narcolepsy, with large discrepancies between studies. No study has investigated yet spontaneous brain activity at wake in Idiopathic Hypersomnia. We compared relative changes in regional brain metabolism in two central Hypersomnia conditions with different clinical features, namely narcolepsy type 1 and Idiopathic Hypersomnia, and in healthy controls. Methods: Sixteen patients (12 males, median age 30 years [17–78]) with narcolepsy type 1, nine patients (2 males, median age 27 years [20–60]) with Idiopathic Hypersomnia and 19 healthy controls (16 males, median age 36 years [17–78]) were included. 18F-fludeoxyglucose positron emission tomography (PET) was performed in all drug-free subjects under similar conditions and instructions to stay in a wake resting state. Results: We found increased metabolism in the anterior and middle cingulate and the insula in the two pathological conditions as compared to healthy controls. The reverse contrast failed to evidence hypometabolism in patients vs. controls. Comparisons between patient groups were non significant. At sub-statistical threshold, we found higher right superior occipital gyrus glucose metabolism in narcolepsy and higher middle orbital cortex and supplementary motor area metabolism in Idiopathic Hypersomnia, findings that require further confirmation. Conclusions: There is significant hypermetabolism in narcolepsy and Idiopathic Hypersomnia in the wake resting state in a set of brain regions constitutive of the salience cortical network that may reflect a compensatory neurocircuitry activity secondary to sleepiness. Metabolic differences between the two disorders within the executive-control network may be a signature of abnormally functioning neural system leading to persistent drowsiness typical of Idiopathic Hypersomnia.
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French consensus. Idiopathic Hypersomnia: Investigations and follow-up
Revue Neurologique, 2017Co-Authors: S. Leu-semenescu, M.-a. Quera-salva, Y DauvilliersAbstract:Idiopathic Hypersomnia is a rare, central Hypersomnia, recently identified and to date of unknown physiopathology. It is characterised by a more or less permanent, excessive daytime sleepiness, associated with long and unrefreshing naps. Night-time sleep is of good quality, excessive in quantity, associated with sleep inertia in the subtype previously described as "with long sleep time". Diagnosis of Idiopathic Hypersomnia is complex due to the absence of a quantifiable biomarker, the heterogeneous symptoms, which overlap with the clinical picture of type 2 narcolepsy, and its variable evolution over time. Detailed evaluation enables other frequent causes of somnolence, such as depression or sleep deprivation, to be eliminated. Polysomnography and multiple sleep latency tests (MSLT) are essential to rule out other sleep pathologies and to objectify excessive daytime sleepiness. Sometimes the MSLT do not show excessive sleepiness, hence a continued sleep recording of at least 24hours is necessary to show prolonged sleep (>11h/24h). In this article, we propose recommendations for the work-up to be carried out during diagnosis and follow-up for patients suffering from Idiopathic Hypersomnia.
Lynn Marie Trotti - One of the best experts on this subject based on the ideXlab platform.
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Idiopathic Hypersomnia and Other Hypersomnia Syndromes
Neurotherapeutics, 2020Co-Authors: Lynn Marie Trotti, Isabelle ArnulfAbstract:There are numerous disorders of known or presumed neurologic origin that result in excessive daytime sleepiness, collectively known as the central disorders of hypersomnolence. These include narcolepsy types 1 and 2, Idiopathic Hypersomnia, Kleine–Levin syndrome, and Hypersomnia due to or associated with medical disease, neurologic disease, psychiatric disease, medications or substances, and insufficient sleep durations. This chapter focuses on the treatment of nonnarcoleptic Hypersomnia syndromes, from those that are commonly encountered in neurologic practice, such as Hypersomnia due to Parkinson’s disease, to those that are exceedingly rare but present with dramatic manifestations, such as Kleine–Levin syndrome. The level of evidence for the treatment of sleepiness in these disorders is generally lower than in the well-characterized syndrome of narcolepsy, but available clinical and randomized, controlled trial data can provide guidance for the management of each of these disorders. Treatments vary by diagnosis but may include modafinil/armodafinil, traditional psychostimulants, solriamfetol, pitolisant, clarithromycin, flumazenil, sodium oxybate, melatonin, methylprednisolone, and lithium.
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Disease symptomatology and response to treatment in people with Idiopathic Hypersomnia: initial data from the Hypersomnia Foundation registry.
Sleep medicine, 2020Co-Authors: Lynn Marie Trotti, Jason C. Ong, David T. Plante, Catherine Friederich Murray, Rebecca King, Donald L. BliwiseAbstract:Abstract Objective/background: Knowledge of Idiopathic Hypersomnia symptomatology derives from clinical case series. Web-based registries provide complementary information by allowing larger sample sizes, with greater geographic and social diversity. Patients/Methods Data were obtained from the Hypersomnia Foundation’s online registry. Common clinical features of Idiopathic Hypersomnia and other central disorders of hypersomnolence were queried, for the last thirty days and when symptoms were most severe. Symptoms were compared between Idiopathic Hypersomnia participants with and without long sleep durations and between participants with Idiopathic Hypersomnia and those with either form of narcolepsy. Frequency of medication use and residual symptoms on medication were evaluated. Results Five-hundred sixty-three registry respondents were included, with Idiopathic Hypersomnia (n = 468), narcolepsy type 2, (n = 44), and narcolepsy type 1 (n = 51). “Brain fog,” poor memory, and sleep drunkenness were all present in most Idiopathic Hypersomnia respondents, with brain fog and sleep drunkenness more commonly endorsed by those with long sleep durations. Eighty-two percent of participants with Idiopathic Hypersomnia were currently treated with medication, most commonly traditional psychostimulants such as amphetamine salts. Among treated patients, symptoms improved while on medication, but substantial residual Hypersomnia symptoms remained. Participants with narcolepsy type 1 were more likely than those with Idiopathic Hypersomnia to endorse intentional and unintentional daytime naps and automatic behaviors. Conclusions Symptoms of Idiopathic Hypersomnia extend well beyond excessive daytime sleepiness, and these symptoms frequently persist despite treatment. These findings highlight the importance of online registries in identifying gaps in the use and effectiveness of current treatments.
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0769 FDG-PET Imaging In Narcolepsy Type 1, Idiopathic Hypersomnia, And Non-Sleepy Controls
Sleep, 2020Co-Authors: Lynn Marie Trotti, Carolyn C. Meltzer, David B. Rye, Jonathon A. NyeAbstract:Abstract Introduction Functional imaging of narcolepsy type 1 (NT1) has shown disparate results, with evidence for both regional hyper- and hypo-metabolism. A FDG-PET study of Idiopathic Hypersomnia (IH) demonstrated regional hypermetabolism within the salience network. Methods Patients with NT1 (n=14) or IH (n=16) were recruited, with age-matched, non-sleepy controls (HC, n=8). Patients discontinued treatment for ≥5 half-lives. Participants underwent injection of 18F-fludeoxyglucose (FDG) in a dimly-lit room and were asked to remain awake, seated quietly. Simultaneous 6-channel EEG, EOG, and EMG were collected. Participants were alerted by a loud noise if sleep onset was observed. Thirty minutes after injection, patients underwent 36-minute PET scan. Images were spatially normalized to MPRAGE images and analyzed for group differences using SPM8. Results Groups were similar in age (NT1: 30.0 (+/-SD 8.3), IH: 36.3 (+/-12.4), HC: 33.2 (+/-16.2), p=0.29) and gender (%women, NT1: 71%, IH: 87.5%, HC: 62.5%, p=0.37). Patients were sleepier than controls by Epworth (NT1: 18.2 (+/-3.5), IH: 15.8 (+/-3.2), HC: 5.0 (+/-2.7), p<0.0001) and MSLT mean latency (NT1: 2.0 (+/-1.4), IH: 5.1 (+/-1.7), HC: 14.6 (+/-2.6), p<0.0001). Despite attempts to remain awake, NT1 patients had difficulty maintaining wakefulness during uptake, obtaining 6.2 (+/-5.9) minutes sleep versus <1 minute for the other groups. Compared to controls, NT1 patients demonstrated increased activation in bilateral precentral gyri, left postcentral gyrus, left middle frontal gyrus, right insula, right inferior and superior temporal gyri, right fusiform gyrus, and bilateral inferior frontal gyri. Compared to controls, IH patients demonstrated increased activation in bilateral precuneus, bilateral inferior and middle frontal gyri, left middle and superior temporal gyri, left inferior parietal lobule, and left anterior cingulate. Conclusion Different patterns of metabolic activity are seen in two Hypersomnia disorders, implying disease-specific activity rather than non-specific sleepiness. Inadvertent sleep during uptake is more common in NT1. Support K23 NS083748
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Frequency and severity of autonomic symptoms in Idiopathic Hypersomnia
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine, 2020Co-Authors: Mitchell G. Miglis, Logan Schneider, Paul Kim, Joseph Cheung, Lynn Marie TrottiAbstract:Study Objectives:We aimed to quantify the symptoms of autonomic nervous system dysfunction in a large online cohort of patients with Idiopathic Hypersomnia, and to determine how the severity of the...
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Is Idiopathic Hypersomnia a Circadian Rhythm Disorder?
Current Sleep Medicine Reports, 2019Co-Authors: David Landzberg, Lynn Marie TrottiAbstract:Purpose of Review The pathophysiology of Idiopathic Hypersomnia remains unclear, but some of its clinical features suggest the possibility of circadian dysfunction. This review will provide an overview of recent studies of circadian biology that have begun to elucidate the potential role of circadian rhythm dysfunction in Idiopathic Hypersomnia. Recent Findings Clinically, people with Idiopathic Hypersomnia tend to have both a late chronotype and prominent sleep inertia or sleep drunkenness. Melatonin and cortisol profiles in people with IH confirm this tendency toward phase delay. More recently, it has been suggested that the night phase as defined by melatonin profile or period length as defined by BMA1 in dermal fibroblasts may also be prolonged in people with IH. Additionally, amplitude of melatonin rhythm and circadian gene expression, particularly BMAL1, PER1, and PER2, may be impaired in this disease. Summary Clinical features, melatonin profiles, and circadian gene expression all suggest that abnormalities of the circadian system may be a contributor to the pathogenesis of IH.
Isabelle Arnulf - One of the best experts on this subject based on the ideXlab platform.
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Idiopathic Hypersomnia and Other Hypersomnia Syndromes
Neurotherapeutics, 2020Co-Authors: Lynn Marie Trotti, Isabelle ArnulfAbstract:There are numerous disorders of known or presumed neurologic origin that result in excessive daytime sleepiness, collectively known as the central disorders of hypersomnolence. These include narcolepsy types 1 and 2, Idiopathic Hypersomnia, Kleine–Levin syndrome, and Hypersomnia due to or associated with medical disease, neurologic disease, psychiatric disease, medications or substances, and insufficient sleep durations. This chapter focuses on the treatment of nonnarcoleptic Hypersomnia syndromes, from those that are commonly encountered in neurologic practice, such as Hypersomnia due to Parkinson’s disease, to those that are exceedingly rare but present with dramatic manifestations, such as Kleine–Levin syndrome. The level of evidence for the treatment of sleepiness in these disorders is generally lower than in the well-characterized syndrome of narcolepsy, but available clinical and randomized, controlled trial data can provide guidance for the management of each of these disorders. Treatments vary by diagnosis but may include modafinil/armodafinil, traditional psychostimulants, solriamfetol, pitolisant, clarithromycin, flumazenil, sodium oxybate, melatonin, methylprednisolone, and lithium.
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Precision Medicine for Idiopathic Hypersomnia.
Sleep medicine clinics, 2019Co-Authors: Isabelle Arnulf, Smaranda Leu-semenescu, Pauline DodetAbstract:Idiopathic Hypersomnia (IH) is characterized by excessive daytime sleepiness despite normal or prolonged sleep. IH is distinguished from narcolepsy by the female predominance, severe morning inertia, continuous drowsiness (rather than sleep attacks), unrefreshing naps, absence of cataplexy, sleep onset in REM periods, and hypocretin deficiency. In IH, the multiple sleep latency test demonstrates low sensitivity, specificity, and reproducibility, compared with prolonged sleep monitoring. In some IH cases, an endogenous hypnotic peptide stimulating GABA receptors during wakefulness is suspected, which are improved by anti-GABA drugs. The benefits of modafinil, sodium oxybate, mazindol, and pitolisant were found in mostly retrospective studies.
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Benefits and risk of sodium oxybate in Idiopathic Hypersomnia versus narcolepsy type 1: a chart review.
Sleep medicine, 2015Co-Authors: Smaranda Leu-semenescu, Pauline Louis, Isabelle ArnulfAbstract:Abstract Background Few stimulants have been evaluated for the treatment of Idiopathic Hypersomnia (IH). Sodium oxybate (indicated in narcolepsy type 1, NT1) has not been tested in IH patients. Objective The aim of this study is to retrospectively evaluate the benefit/risk ratio of sodium oxybate in IH versus NT1 using a chart review. Methods We reviewed the files of 46 patients with IH (35.7 ± 12.6 years old, 78% women) and 47 patients with NT1 (44.1 ± 18 years old, 47% women) and evaluated the benefits of sodium oxybate using the Epworth sleepiness scale (ESS) and a four-point scale assessing the global benefit, sleep inertia, sleepiness, sleep duration, and sleep onset latency. The spontaneously reported side effects were collected. Results Sodium oxybate was prescribed at a lower dose in IH than in NT1 (4.3 ± 2.2 vs. 6.6 ± 2.8 g/night, p 0.0001) patients after having tried more (3.2 ± 1.4 vs. 2.2 ± 1, p 0.0001) stimulants, but it produced a similar ESS change (−3.5 ± 4.5 vs. −3.2 ± 4.2 points) in the IH and NT1 groups. Severe morning inertia was improved in 24/34 (71%) patients with IH. During the follow-up period (15.8 months in IH vs. 35 months in NT1 groups), 53% IH and 68% NT1 patients dropped out. The side effects were as frequent in the IH group as in the NT1 group (67% vs. 52%), but nausea (40% vs. 13%) and dizziness (34.3% vs. 4.3%) were more frequent in the IH group. Conclusion The benefit/risk ratio of sodium oxybate in IH- was similar to NT1-associated sleepiness, with additional benefits on severe morning inertia, despite using smaller doses in more refractory patients.
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benefit and risk of modafinil in Idiopathic Hypersomnia vs narcolepsy with cataplexy
Sleep Medicine, 2011Co-Authors: Y Dauvilliers, Sophie Lavault, Xavier Drouot, Smaranda Leusemenescu, Jeanlouis Golmard, Michel Lecendreux, Patricia Franco, Isabelle ArnulfAbstract:Abstract Background The benefit/risk ratio of modafinil was recently re-evaluated by the European Medicines Agency and was shown to be negative for Idiopathic Hypersomnia (IH) because of insufficient data. Objective To evaluate the benefit/risk ratio of modafinil in Idiopathic Hypersomnia (with and without long sleep time) vs. narcolepsy/cataplexy. Subjects and methods The benefit (Epworth sleepiness score, ESS; visual analog scale, patient and clinician opinions) and risks (habituation, adverse effects) of modafinil were studied in a consecutive clinical cohort of 104 IH patients (59 with long sleep time) and 126 patients with narcolepsy/cataplexy. Results Modafinil was the first line treatment in 96–99% of patients. It produced a similar ESS change in IH patients and in narcolepsy patients (−2.6±5.1 vs. −3±5.1) and a similar benefit as estimated by the patients (6.9±2.7 vs. 6.5±2.5 on a visual analog scale) and clinicians. The ESS change was lower in IH patients with long sleep time than in those without. Sudden loss of efficacy and habituation were rare in both groups. Patients with IH reported similar but more frequent adverse effects with modafinil than narcolepsy patients: nervousness (14%), palpitations (13%), and headache (11%). Conclusion Modafinil has an excellent benefit/risk ratio in Idiopathic Hypersomnia, with or without long sleep time, similar to its effect on narcolepsy/cataplexy.
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Subjective symptoms in Idiopathic Hypersomnia: beyond excessive sleepiness
Journal of sleep research, 2010Co-Authors: Cyrille Vernet, Smaranda Leu-semenescu, Marie-annick Buzare, Isabelle ArnulfAbstract:Summary Patients with Idiopathic Hypersomnia never feel fully alert despite a normal or long sleep night. The spectrum of the symptoms is insufficiently studied. We interviewed 62 consecutive patients with Idiopathic Hypersomnia (with a mean sleep latency lower than 8 min or a sleep time longer than 11 h) and 50 healthy controls using a questionnaire on sleep, awakening, sleepiness, alertness and cognitive, psychological and functional problems during daily life conditions. Patients slept 3 h more on weekends, holidays and in the sleep unit than on working days. In the morning, the patients needed somebody to wake them, or to be stressed, while routine, light, alarm clocks and motivation were inefficient. Three-quarters of the patients did not feel refreshed after short naps. During the daytime, their alertness was modulated by the same external conditions as controls, but they felt more sedated in darkness, in a quiet environment, when listening to music or conversation. Being hyperactive helped them more than controls to resist sleepiness. They were more frequently evening-type and more alert in the evening than in the morning. The patients were able to focus only for 1 h (versus 4 h in the controls). They complained of attention and memory deficit. Half of them had problems regulating their body temperature and were near-sighted. Mental fatigability, dependence on other people for awakening them, and a reduced benefit from usually alerting conditions (except being hyperactive or stressed) seem to be more specific of the daily problems of patients with Idiopathic Hypersomnia than daytime sleepiness.
M Billiard - One of the best experts on this subject based on the ideXlab platform.
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S103 Polysomnographic features of narcolepsy types 1 and 2, and of Idiopathic Hypersomnia: Strengths and limitations
Clinical Neurophysiology, 2017Co-Authors: M BilliardAbstract:Objectives Current diagnostic criteria of narcolepsy types 1 (NT1), type 2 (NT2) and Idiopathic Hypersomnia (IH), including clinical, electrophysiological and biologic criteria are listed in the International classification of sleep disorders, 3rd edition (ICSD-3). Electrophysiological criteria have been recently weakened with the demonstration that the multiple sleep latency test (MSLT) has poor test/retest reliability. Thus the search for additional electrophysiological criteria for these central disorders of hypersomnolence. Methods To review recent electrophysiological strategies. aiming at reinforcing current electrophysiological criteria of NT1, NT2 and IH, namely analysis of sleep stage sequence organization and complexity, sleep stage sequence analysis of sleep onser REM periods, daytime continuous polysomnography and analysis of sleep onset criteria at the MSLT. Results Patients with NT1 differed significantly from the two other patient groups. The latter, in turn, were not different between each other. Discussion These results show the limits of polysomnography and MSLT in accurate phenotyping of NT2 and IH, hence calling for further clinical and biologic markers of these sleep disorders. Conclusion Recent additional electrophysiological strategies reinforce the identity of NT1, not these of either NT2 or IH. Significance In spite of sustained efforts, NT2 and IH lack sufficient electrophysiological diagnostic criteria. Further research is urgently needed.
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Idiopathic Hypersomnia, Kleine–Levin syndrome, and symptomatic Hypersomnias
Oxford Medicine Online, 2017Co-Authors: M Billiard, Y DauvilliersAbstract:Besides obstructive sleep apnea syndrome and narcolepsy, there are a number of other causes of excessive daytime sleepiness, listed in the International Classification of Sleep Disorders, third edition, as central disorders of hypersomnolence. They include primary sleep disorders such as Idiopathic Hypersomnia, Kleine-Levin syndrome and a number of Hypersomnias due to a medical disorder, a medication, or a substance, associated with a psychiatric disorder, or due to insufficient sleep. Idiopathic Hypersomnia and Kleine–Levin syndrome have attracted much interest in recent years, and an overview of recent progresses is presented in this chapter. The symptomatic Hypersomnias are less well known to sleep physicians and often neglected by specialists, either internists or psychiatrists, although they may seriously impact the quality of life of patients
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Idiopathic Hypersomnia.
Sleep medicine reviews, 2015Co-Authors: M Billiard, Karel SonkaAbstract:Idiopathic Hypersomnia continues to evolve from the concept of "sleep drunkenness" introduced by Bedrich Roth in Prague in 1956 and the description of Idiopathic Hypersomnia with two forms, polysymptomatic and monosymptomatic, by the same Bedrich Roth in 1976. The diagnostic criteria of Idiopathic Hypersomnia have varied with the successive revisions of the International classifications of sleep disorders, including the recent 3rd edition. No epidemiological studies have been conducted so far. Disease onset occurs most often during adolescence or young adulthood. A familial background is often present but rigorous studies are still lacking. The key manifestation is hypersomnolence. It is often accompanied by sleep of long duration and debilitating sleep inertia. Polysomnography (PSG) followed by a multiple sleep latency test (MSLT) is mandatory, as well as a 24 h PSG or a 2-wk actigraphy in association with a sleep log to ensure a total 24-h sleep time longer than or equal to 66O minutes, when the mean sleep latency on the MSLT is longer than 8 min. Yet, MSLT is neither sensitive nor specific and the polysomnographic diagnostic criteria require continuous readjustment and biologic markers are still lacking. Idiopathic Hypersomnia is most often a chronic condition though spontaneous remission may occur. The condition is disabling, sometimes even more so than narcolepsy type 1 or 2. Based on neurochemical, genetic and immunological analyses as well as on exploration of the homeostatic and circadian processes of sleep, various pathophysiological hypotheses have been proposed. Differential diagnosis involves a number of diseases and it is not yet clear whether Idiopathic Hypersomnia and narcolepsy type 2 are not the same condition. Until now, the treatment of Idiopathic Hypersomnia has mirrored that of the sleepiness of narcolepsy type 1 or 2. The first randomized, double-blind, placebo-controlled trials of modafinil have just been published, as well as a double-blind, placebo-controlled trial of clarithromycine, a negative allosteric modulator of the γ-aminobutyric acid-A receptor.
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Narcolepsy with and without cataplexy, Idiopathic Hypersomnia with and without long sleep time: a cluster analysis
Sleep medicine, 2014Co-Authors: Karel Sonka, Marek Susta, M BilliardAbstract:Abstract Background: The successive editions of the International Classification of Sleep Disorders (ICSD) reflect the evolution of the concepts of various sleep disorders. This is particularly the case for central disorders of hypersomnolence, with continuous changes in terminology and divisions of narcolepsy, Idiopathic Hypersomnia, and recurrent Hypersomnia. According to the ICSD 2nd Edition (ICSD-2), narcolepsy with cataplexy (NwithC), narcolepsy without cataplexy (Nw/oC), Idiopathic Hypersomnia with long sleep time (IHwithLST), and Idiopathic Hypersomnia without long sleep time (IHw/oLST) are four, well-defined Hypersomnias of central origin. However, in the absence of biological markers, doubts have been raised as to the relevance of a division of Idiopathic Hypersomnia into two forms, and it is not yet clear whether Nw/oC and IHw/oLST are two distinct entities. With this in mind, it was decided to empirically review the ICSD-2 classification by using a hierarchical cluster analysis to see whether this division has some relevance, even though the terms "with long sleep time" and "without long sleep time" are inappropriate. Results The cluster analysis differentiated three main clusters: Cluster 1, "combined monosymptomatic Hypersomnia/narcolepsy type 2" (people initially diagnosed with IHw/oLST and Nw/oC); Cluster 2 "polysymptomatic Hypersomnia" (people initially diagnosed with IHwithLST); and Cluster 3, narcolepsy type 1 (people initially diagnosed with NwithC). Conclusions Cluster analysis confirmed that narcolepsy type 1 and polysymptomatic Hypersomnia are independent sleep disorders. People who were initially diagnosed with Nw/oC and IHw/oLST formed a single cluster, referred to as "combined monosymptomatic Hypersomnia/narcolepsy type 2."
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Diagnosis of narcolepsy and Idiopathic Hypersomnia. An update based on the International Classification of Sleep Disorders, 2nd edition
Sleep medicine reviews, 2007Co-Authors: M BilliardAbstract:Defining the precise nosological limits of narcolepsy and Idiopathic Hypersomnia is an ongoing process dating back to the first description of the two conditions. The most recent step forward has been done within the preparation of the second edition of the "International classification of sleep disorders" published in June 2005. Appointed by Dr Emmanuel Mignot, the Task Force on "Hypersomnias of central origin, not due to a circadian rhythm sleep disorder, sleep related breathing disorder, or other causes of disturbed nocturnal sleep" thoroughly revisited the nosology of narcolepsy and of Idiopathic Hypersomnia. Narcolepsy is now distinguished into three different entities, narcolepsy with cataplexy, narcolepsy without cataplexy and narcolepsy due to medical condition, and Idiopathic Hypersomnia into two entities, Idiopathic Hypersomnia with long sleep time and Idiopathic Hypersomnia without long sleep time. Nevertheless there are still a number of pending issues. What are the limits of narcolepsy without cataplexy? Is there a continuum in the pathophysiology of narcolepsy with and without cataplexy? Should sporadic and familial forms of narcolepsy with cataplexy appear as subgroups in the classification? Are Idiopathic Hypersomnia with long sleep time and Idiopathic Hypersomnia without long sleep time, two forms of the same condition or two different conditions? Is there a pathophysiological relationship between narcolepsy without cataplexy and Idiopathic Hypersomnia without long sleep time?
Soufiane Boucetta - One of the best experts on this subject based on the ideXlab platform.
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Beyond sleepy: structural and functional changes of the default-mode network in Idiopathic Hypersomnia
Sleep, 2019Co-Authors: Florence B. Pomares, Jacques Montplaisir, Soufiane Boucetta, Francis Lachapelle, Jason Steffener, Jungho Cha, Hosung Kim, Thien Thanh Dang-vuAbstract:Idiopathic Hypersomnia (IH) is characterized by excessive daytime sleepiness but, in contrast to narcolepsy, does not involve cataplexy, sleep-onset REM periods, or any consistent hypocretin-1 deficiency. The pathophysiological mechanisms of IH remain unclear. Because of the involvement of the default-mode network (DMN) in alertness and sleep, our aim was to investigate the structural and functional modifications of the DMN in IH. We conducted multimodal magnetic resonance imaging (MRI) in 12 participants with IH and 15 good sleeper controls (mean age ± SD: 32 ± 9.6 years, range 22-53 years, nine males). Self-reported as well as objective measures of daytime sleepiness were collected. Gray matter volume and cortical thickness were analyzed to investigate brain structural differences between good sleepers and IH. Structural covariance and resting-state functional connectivity were analyzed to investigate changes in the DMN. Participants with IH had greater volume and cortical thickness in the precuneus, a posterior hub of the DMN. Cortical thickness in the left medial prefrontal cortex was positively correlated with thickness of the precuneus, and the strength of this correlation was greater in IH. In contrast, functional connectivity at rest was lower within the anterior DMN (medial prefrontal cortex) in IH, and correlated with self-reported daytime sleepiness. The present results show that IH is associated with structural and functional differences in the DMN, in proportion to the severity of daytime sleepiness, suggesting that a disruption of the DMN contributes to the clinical features of IH. Larger volume and thickness in this network might reflect compensatory changes to lower functional connectivity in IH.
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altered regional cerebral blood flow in Idiopathic Hypersomnia
Sleep, 2017Co-Authors: Soufiane Boucetta, Jacques Montplaisir, Antonio Zadra, Francis Lachapelle, Jeanpaul Soucy, Paul Gravel, Thien Thanh DangvuAbstract:Objectives Idiopathic Hypersomnia is characterized by excessive daytime sleepiness despite normal or long sleep time. Its pathophysiological mechanisms remain unclear. This pilot study aims at characterizing the neural correlates of Idiopathic Hypersomnia using single photon emission computed tomography. Methods Thirteen participants with Idiopathic Hypersomnia and sixteen healthy controls were scanned during resting wakefulness using a high-resolution single photon emission computed tomography scanner with 99mTc-ethyl cysteinate dimer to assess cerebral blood flow. The main analysis compared regional cerebral blood flow distribution between the two groups. Exploratory correlations between regional cerebral blood flow and clinical characteristics evaluated the functional correlates of those brain perfusion patterns. Significance was set at p <0.05 after correction for multiple comparisons. Results Idiopathic Hypersomnia participants showed regional cerebral blood flow decreases in medial prefrontal cortex, posterior cingulate cortex and putamen, as well as increases in amygdala and temporo-occipital cortices. Lower regional cerebral blood flow in the medial prefrontal cortex was associated with higher daytime sleepiness. Conclusions These preliminary findings suggest that Idiopathic Hypersomnia is characterized by functional alterations in brain areas involved in the modulation of vigilance states, which may contribute to the daytime symptoms of this condition. The distribution of regional cerebral blood flow changes was reminiscent of the patterns associated with normal non-rapid-eye-movement sleep, suggesting the possible presence of incomplete sleep-wake transitions. These abnormalities were strikingly distinct from those induced by acute sleep deprivation, suggesting that the patterns seen here might reflect a trait associated with Idiopathic Hypersomnia rather than a non-specific state of sleepiness.
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Altered Regional Cerebral Blood Flow in Idiopathic Hypersomnia.
Sleep, 2017Co-Authors: Soufiane Boucetta, Jacques Montplaisir, Antonio Zadra, Francis Lachapelle, Jeanpaul Soucy, Paul Gravel, Thien Thanh Dang-vuAbstract:Objectives Idiopathic Hypersomnia is characterized by excessive daytime sleepiness despite normal or long sleep time. Its pathophysiological mechanisms remain unclear. This pilot study aims at characterizing the neural correlates of Idiopathic Hypersomnia using single photon emission computed tomography. Methods Thirteen participants with Idiopathic Hypersomnia and sixteen healthy controls were scanned during resting wakefulness using a high-resolution single photon emission computed tomography scanner with 99mTc-ethyl cysteinate dimer to assess cerebral blood flow. The main analysis compared regional cerebral blood flow distribution between the two groups. Exploratory correlations between regional cerebral blood flow and clinical characteristics evaluated the functional correlates of those brain perfusion patterns. Significance was set at p
