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    Narcolepsy - clinical spectrum, aetiopathophysiology, diagnosis and treatment. Bassetti Claudio L A,Adamantidis Antoine,Burdakov Denis,Han Fang,Gay Steffen,Kallweit Ulf,Khatami Ramin,Koning Frits,Kornum Brigitte R,Lammers Gert Jan,Liblau Roland S,Luppi Pierre H,Mayer Geert,Pollmächer Thomas,Sakurai Takeshi,Sallusto Federica,Scammell Thomas E,Tafti Mehdi,Dauvilliers Yves Nature reviews. Neurology Narcolepsy is a rare brain disorder that reflects a selective loss or dysfunction of orexin (also known as hypocretin) neurons of the lateral hypothalamus. Narcolepsy type 1 (NT1) is characterized by excessive daytime sleepiness and cataplexy, accompanied by sleep-wake symptoms, such as hallucinations, sleep paralysis and disturbed sleep. Diagnosis is based on these clinical features and supported by biomarkers: evidence of rapid eye movement sleep periods soon after sleep onset; cerebrospinal fluid orexin deficiency; and positivity for HLA-DQB1*06:02. Symptomatic treatment with stimulant and anticataplectic drugs is usually efficacious. This Review focuses on our current understanding of how genetic, environmental and immune-related factors contribute to a prominent (but not isolated) orexin signalling deficiency in patients with NT1. Data supporting the view of NT1 as a hypothalamic disorder affecting not only sleep-wake but also motor, psychiatric, emotional, cognitive, metabolic and autonomic functions are presented, along with uncertainties concerning the 'narcoleptic borderland', including narcolepsy type 2 (NT2). The limitations of current diagnostic criteria for narcolepsy are discussed, and a possible new classification system incorporating the borderland conditions is presented. Finally, advances and obstacles in the symptomatic and causal treatment of narcolepsy are reviewed. 10.1038/s41582-019-0226-9
    The chain of cross-contamination: link-by-link. Schwartz Jeanne Dental assistant (Chicago, Ill. : 1994) Conscious efforts must be made to break the chain of cross-contamination--link-by-link. Pay attention to detail Avoid being careless Avoid touching objects while wearing soiled gloves Frequently wash hands (15-second hand washing) to remove pathogens--before and after gloving, and before handling food or drink Wear all PPE, and change accordingly.
    Narcolepsy. Kornum Birgitte R,Knudsen Stine,Ollila Hanna M,Pizza Fabio,Jennum Poul J,Dauvilliers Yves,Overeem Sebastiaan Nature reviews. Disease primers Narcolepsy is a chronic sleep disorder that has a typical onset in adolescence and is characterized by excessive daytime sleepiness, which can have severe consequences for the patient. Problems faced by patients with narcolepsy include social stigma associated with this disease, difficulties in obtaining an education and keeping a job, a reduced quality of life and socioeconomic consequences. Two subtypes of narcolepsy have been described (narcolepsy type 1 and narcolepsy type 2), both of which have similar clinical profiles, except for the presence of cataplexy, which occurs only in patients with narcolepsy type 1. The pathogenesis of narcolepsy type 1 is hypothesized to be the autoimmune destruction of the hypocretin-producing neurons in the hypothalamus; this hypothesis is supported by immune-related genetic and environmental factors associated with the disease. However, direct evidence in support of the autoimmune hypothesis is currently unavailable. Diagnosis of narcolepsy encompasses clinical, electrophysiological and biological evaluations, but simpler and faster procedures are needed. Several medications are available for the symptomatic treatment of narcolepsy, all of which have quite good efficacy and safety profiles. However, to date, no treatment hinders or slows disease development. Improved diagnostic tools and increased understanding of the pathogenesis of narcolepsy type 1 are needed and might lead to therapeutic or even preventative interventions. 10.1038/nrdp.2016.100
    Assessing sleepiness and cataplexy in children and adolescents with narcolepsy: a review of current patient-reported measures. Benmedjahed Khadra,Wang Y Grace,Lambert Jérémy,Evans Christopher,Hwang Steve,Black Jed,Johns Murray W Sleep medicine OBJECTIVE:The objective of this study was to review patient-reported outcome measures assessing excessive daytime sleepiness (EDS) or cataplexy in children or adolescents to determine their usefulness and limitations in pediatric narcolepsy assessment. METHODS:Searches were performed in Embase and Medline for pediatric measures of EDS and cataplexy that are either patient- or proxy-reported, and searches of http://www.clinicaltrials.gov/ were conducted for studies in narcolepsy that included at least one patient-reported measure. Further review was performed if sleepiness questionnaires (child or proxy-reported), sleep questionnaires that may contain sleepiness questions, proxy-reported child behavior questionnaires, or information on cataplexy measures were mentioned. RESULTS:All self-reported cataplexy questionnaires from among 27 citations were study-specific diaries and were not identifiable as a recognized validated questionnaire. For EDS, 118 of 401 abstracts were further reviewed and the names of 21 questionnaires identified, of which eight questionnaires did not return additional citations of their validation. The Epworth Sleepiness Scale (ESS) or a modified version was the most frequently used measure of EDS. Although all measures were associated with limitations for use in the pediatric population, the ESS has been successfully used in adolescents and was deemed readily amenable to further modification for children. CONCLUSIONS:There remains a dearth of validated measures for assessing EDS and cataplexy in children and adolescents with narcolepsy. The need for these measures may be filled by modification or adaptation of existing adult measures; a daily cataplexy diary and the ESS may be readily modified to make them child-friendly with regard to wording and settings, but should still undergo psychometric validation. 10.1016/j.sleep.2016.12.020
    Comparative polysomnography parameters between narcolepsy type 1/type 2 and idiopathic hypersomnia: A systematic review and meta-analysis. Sleep medicine reviews A meta-analysis exploring polysomnography (PSG) differences between narcolepsy type 1 (NT1)/type 2 (NT2) and idiopathic hypersomnia (IH), particularly one that stratifies the analysis by IH with and without long sleep time (LST), could provide information useful for appropriately re-classifying the central disorders of hypersomnolence. An electronic literature search was conducted in EMBASE, MEDLINE, All EBM databases, CINAHL, and PsycINFO inception to May 2021. Meta-analysis of 26 studies revealed that the effect sizes of differences in some PSG parameters between NT1 and IH were different from those between NT2 and IH. Specifically, there were significant increases in wake time after sleep onset (WASO), arousal index (AI), and N1 percentage, and significant decreases in sleep efficiency, sleep latency, and N2 percentage in NT1 compared with IH, but no differences for these sleep parameters between NT2 and IH. With the exception of rapid eye movement (REM) sleep percentage and REM latency, there were no significant differences in other PSG variables between NT2 and IH without LST. The findings suggest that, NT1, rather than NT2, showed shallower and more fragmented sleep compared with IH. Sleep macrostructure features are very similar between NT2 and IH without LST. 10.1016/j.smrv.2022.101610
    Patient-Reported Measures of Narcolepsy: The Need for Better Assessment. Kallweit Ulf,Schmidt Markus,Bassetti Claudio L Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine STUDY OBJECTIVES:Narcolepsy, a chronic disorder of the central nervous system, is clinically characterized by a symptom pentad that includes excessive daytime sleepiness, cataplexy, sleep paralysis, hypnopompic/hypnagogic hallucinations, and disrupted nighttime sleep. Ideally, screening and diagnosis instruments that assist physicians in evaluating a patient for type 1 or type 2 narcolepsy would be brief, easy for patients to understand and physicians to score, and would identify or rule out the need for electrophysiological testing. METHODS:A search of the literature was conducted to review patient-reported measures used for the assessment of narcolepsy, mainly in clinical trials, with the goal of summarizing existing scales and identifying areas that may require additional screening questions and clinical practice scales. RESULTS:Of the seven scales reviewed, the Epworth Sleepiness Scale continues to be an important outcome measure to screen adults for excessive daytime sleepiness, which may be associated with narcolepsy. Several narcolepsy-specific scales have demonstrated utility, such as the Ullanlinna Narcolepsy Scale, Swiss Narcolepsy Scale, and Narcolepsy Symptom Assessment Questionnaire, but further validation is required. CONCLUSIONS:Although the narcolepsy-specific scales currently in use may identify type 1 narcolepsy, there are no validated questionnaires to identify type 2 narcolepsy. Thus, there remains a need for short, easily understood, and well-validated instruments that can be readily used in clinical practice to distinguish narcolepsy subtypes, as well as other hypersomnias, and for assessing symptoms of these conditions during treatment. 10.5664/jcsm.6596
    Health-related quality of life in narcolepsy: A systematic review and meta-analysis. Tadrous Ragy,O'Rourke Deirdre,Mockler David,Broderick Julie Journal of sleep research To date, there has been no systematic analysis of the literature regarding health-related quality of life in narcolepsy. This systematic review aimed to examine the impact of narcolepsy on health-related quality of life, measured through standardised health-related quality of life questionnaires such as the Short Form 36 and Functional Outcome of Sleep Questionnaire. The following databases: Medline, Embase, Cinahl, and Web of Science were searched for studies that investigated health-related quality of life in adults with narcolepsy. Studies were reviewed independently by two reviewers, and a random-effects meta-analysis was performed. A total of 30 studies were eligible for inclusion in the review. Additionally, meta-analyses were conducted for the Short Form 36 and the EQ5D. The Short Form 36 meta-analysis identified that the pooled mean scores for the Physical Component Summary (45.91) were less affected than the Mental Component Summary (42.98). People with narcolepsy experience substantially lower health-related quality of life when compared with the general population norms of the USA, UK, France and Norway, as well as compared with people with chronic diseases such as multiple sclerosis, diabetes, hypertension and epilepsy. Further research is warranted to identify the longitudinal effects of narcolepsy on health-related quality of life, and to develop a narcolepsy-specific health-related quality of life tool. 10.1111/jsr.13383
    European guideline and expert statements on the management of narcolepsy in adults and children. Bassetti Claudio L A,Kallweit Ulf,Vignatelli Luca,Plazzi Giuseppe,Lecendreux Michel,Baldin Elisa,Dolenc-Groselj Leja,Jennum Poul,Khatami Ramin,Manconi Mauro,Mayer Geert,Partinen Markku,Pollmächer Thomas,Reading Paul,Santamaria Joan,Sonka Karel,Dauvilliers Yves,Lammers Gert J Journal of sleep research BACKGROUND AND PURPOSE:Narcolepsy is an uncommon hypothalamic disorder of presumed autoimmune origin that usually requires lifelong treatment. This paper aims to provide evidence-based guidelines for the management of narcolepsy in both adults and children. METHODS:The European Academy of Neurology (EAN), European Sleep Research Society (ESRS), and European Narcolepsy Network (EU-NN) nominated a task force of 18 narcolepsy specialists. According to the EAN recommendations, 10 relevant clinical questions were formulated in PICO format. Following a systematic review of the literature (performed in Fall 2018 and updated in July 2020) recommendations were developed according to the GRADE approach. RESULTS:A total of 10,247 references were evaluated, 308 studies were assessed and 155 finally included. The main recommendations can be summarized as follows: (i) excessive daytime sleepiness (EDS) in adults-scheduled naps, modafinil, pitolisant, sodium oxybate (SXB), solriamfetol (all strong); methylphenidate, amphetamine derivatives (both weak); (ii) cataplexy in adults-SXB, venlafaxine, clomipramine (all strong) and pitolisant (weak); (iii) EDS in children-scheduled naps, SXB (both strong), modafinil, methylphenidate, pitolisant, amphetamine derivatives (all weak); (iv) cataplexy in children-SXB (strong), antidepressants (weak). Treatment choices should be tailored to each patient's symptoms, comorbidities, tolerance and risk of potential drug interactions. CONCLUSION:The management of narcolepsy involves non-pharmacological and pharmacological approaches with an increasing number of symptomatic treatment options for adults and children that have been studied in some detail. 10.1111/jsr.13387
    Current Understanding of Narcolepsy 1 and its Comorbidities: What Clinicians Need to Know. Advances in therapy Narcolepsy is a chronic neurologic disorder associated with the dysregulation of the sleep-wake cycle that often leads to a decreased quality of life and results in a considerable health burden. There is often a delay to diagnosis of narcolepsy, mainly due to the lack of recognition of this disorder. One of the main factors hindering the diagnosis of narcolepsy is the association of comorbidities, which include other sleep disorders, psychiatric disorders, cardiovascular disorders, and metabolic disorders. The signs and symptoms of these comorbidities often overlap with those of narcolepsy, and some of the medications used for their treatment may obscure the symptoms of narcolepsy, leading to a delay in diagnosis. This review is targeted to clinicians unaccustomed to working with sleep disorders and aims to increase recognition and improve the management of narcolepsy. 10.1007/s12325-021-01992-4
    Narcolepsy. Journal of sleep research This article addresses the clinical presentation, diagnosis, pathophysiology and management of narcolepsy type 1 and 2, with a focus on recent findings. A low level of hypocretin-1/orexin-A in the cerebrospinal fluid is sufficient to diagnose narcolepsy type 1, being a highly specific and sensitive biomarker, and the irreversible loss of hypocretin neurons is responsible for the main symptoms of the disease: sleepiness, cataplexy, sleep-related hallucinations and paralysis, and disrupted nocturnal sleep. The process responsible for the destruction of hypocretin neurons is highly suspected to be autoimmune, or dysimmune. Over the last two decades, remarkable progress has been made for the understanding of these mechanisms that were made possible with the development of new techniques. Conversely, narcolepsy type 2 is a less well-defined disorder, with a variable phenotype and evolution, and few reliable biomarkers discovered so far. There is a dearth of knowledge about this disorder, and its aetiology remains unclear and needs to be further explored. Treatment of narcolepsy is still nowadays only symptomatic, targeting sleepiness, cataplexy and disrupted nocturnal sleep. However, new psychostimulants have been recently developed, and the upcoming arrival of non-peptide hypocretin receptor-2 agonists should be a revolution in the management of this rare sleep disease, and maybe also for disorders beyond narcolepsy. 10.1111/jsr.13631
    The neurobiological basis of narcolepsy. Mahoney Carrie E,Cogswell Andrew,Koralnik Igor J,Scammell Thomas E Nature reviews. Neuroscience Narcolepsy is the most common neurological cause of chronic sleepiness. The discovery about 20 years ago that narcolepsy is caused by selective loss of the neurons producing orexins (also known as hypocretins) sparked great advances in the field. Here, we review the current understanding of how orexin neurons regulate sleep-wake behaviour and the consequences of the loss of orexin neurons. We also summarize the developing evidence that narcolepsy is an autoimmune disorder that may be caused by a T cell-mediated attack on the orexin neurons and explain how these new perspectives can inform better therapeutic approaches. 10.1038/s41583-018-0097-x
    The clinical spectrum of childhood narcolepsy. Postiglione Emanuela,Antelmi Elena,Pizza Fabio,Lecendreux Michel,Dauvilliers Yves,Plazzi Giuseppe Sleep medicine reviews Narcolepsy type 1 is a life-long, severe, multifaceted disease often arising in childhood or adolescence. Beyond the classical symptoms (excessive daytime sleepiness, cataplexy, hallucinations, sleep paralysis and nocturnal fragmented sleep), metabolic, endocrinological, psychiatric and psychosocial aspects must be considered. Despite the increased awareness after H1N1 pandemic influenza and vaccination, narcolepsy is still misdiagnosed and unrecognized. The peculiar presentation of symptoms in narcoleptic children could in part explain the misdiagnoses. Excessive daytime sleepiness presenting as chronic drowsiness or irritability could be stigmatized as laziness or misinterpreted as behavior or inattention disorder. The persistent hypotonia and the complex hyperkinetic movements that characterize cataplexy close to the onset, could be misdiagnosed as a movement disorder or as other neurologic conditions. The consequent therapeutic delay could turn into dramatic consequences. The narcolepsy onset, indeed, is associated with abrupt weight gain and sometimes with precocious puberty that require a prompt recognition and treatment to avoid auxological and metabolic complications. Moreover, narcoleptic children could have behavioral and psychiatric disorders ranging from mood to psychotic ones that need ad hoc management. Accordingly, spreading the awareness outside the sleep specialist community is necessary in order to reduce the diagnostic delay and to obtain prompt and multidisciplinary management. 10.1016/j.smrv.2017.04.003
    Polysomnographic nighttime features of narcolepsy: A systematic review and meta-analysis. Zhang Ye,Ren Rong,Yang Linghui,Zhang Haipeng,Shi Yuan,Sanford Larry D,Tang Xiangdong Sleep medicine reviews Polysomnographic studies have been conducted to explore nighttime sleep features in narcolepsy, but their relationship to narcolepsy is still imperfectly understood. We conducted a systematic review of the literature exploring polysomnographic differences between narcolepsy patients and healthy controls (HCs) in EMBASE, MEDLINE, All EBM databases, CINAHL, and PsycINFO. 108 studies were identified for this review, 105 of which were used for meta-analysis. Meta-analyses revealed significant reductions in sleep latency, sleep efficiency, slow wave sleep percentage, rapid eye movement sleep (REM) latency, cyclic alternating pattern rate, and increases in total sleep time, wake time after sleep onset (WASO), awakening numbers (AWN) per hour, stage shift (SS) per hour, N1 percentage, apnea hypopnea index, and periodic limb movement index in narcolepsy patients compared with HCs. Furthermore, narcolepsy type 1 patients showed more disturbed nighttime sleep compared with narcolepsy type 2 patients. Children and adolescent narcolepsy patients show increased WASO, AWN, and SS compared with adult patients. Macro- and micro-structurally, our study suggests that narcolepsy patients have poor nighttime sleep. Sex, age, body mass index, disease duration, disease type, medication status, and adaptation night are demographic, clinical and methodological factors that contribute to heterogeneity between studies. 10.1016/j.smrv.2021.101488
    Disorders of Excessive Daytime Sleepiness Including Narcolepsy and Idiopathic Hypersomnia. Berkowski Joseph Andrew,Shelgikar Anita Valanju Sleep medicine clinics Central disorders of hypersomnolence are rare conditions with a poorly understood pathophysiology, making the identification and management challenging for sleep clinicians. Clinical history is essential for ruling out secondary causes of hypersomnolence and distinguishing among diagnoses. Current diagnostic criteria rely heavily on the polysomnogram and multiple sleep latency test. The current focus of treatment of hypersomnolence is on drugs that promote alertness. Additionally, in the case of narcolepsy type 1, medication management addresses control of cataplexy, the hallmark symptom of this disorder. Elucidation of pathophysiology of these disorders in the future will be essential to better categorization and management. 10.1016/j.jsmc.2016.04.005
    Update on narcolepsy. Reading P J Journal of neurology The last two decades have seen an explosion in our understanding of the clinical nature of narcolepsy and its pathogenesis, fuelling new approaches to potentially effective treatments. It is now recognised that the full narcoleptic syndrome has significant adverse effects on sleep regulation across the full 24-h period and is often associated with clinical features outside the sleep-wake domain. The discovery that most narcoleptic subjects specifically lack a hypothalamic neuropeptide (hypocretin, also called orexin) was a truly original and landmark observation in 1999, greatly furthering our understanding both of the syndrome itself and sleep biology in general. An autoimmune pathophysiology has long been suggested by the tight association with specific histocompatibility antigens and very recently partly confirmed by detailed analysis of T-cell immunological function in affected subjects. Drug treatments remain symptomatic but may soon become more focussed by restoring central hypocretin signalling with replacement therapy. Potentially disease-modifying, immunological approaches have yet to be studied systematically, although the interval between disease onset and development of the full clinical syndrome may be longer than previously appreciated, affording a realistic window of opportunity for limiting neuronal damage in this disabling condition. 10.1007/s00415-019-09310-3
    Paediatric narcolepsy: a review of diagnosis and management. Blackwell Jane Elizabeth,Kingshott Ruth N,Weighall Anna,Elphick Heather E,Nash Hannah Archives of disease in childhood Narcolepsy is a chronic disabling neurological sleep disorder that requires lifelong treatment. We have outlined the clinical features of narcolepsy, the assessment and diagnosis process and have summarised the existing treatment options for children and adolescents with narcolepsy. In the future, the approach to management of paediatric narcolepsy should ideally be in a multidisciplinary setting, involving specialists in sleep medicine, sleep physiology, neurologists and psychologists/psychiatrists. A multidisciplinary approach will help to manage the potential impact of narcolepsy on children and adolescents who are in a stage of their life that is critical to their physical, emotional and social development and their academic attainment. 10.1136/archdischild-2020-320671
    Narcolepsy: a model interaction between immune system, nervous system, and sleep-wake regulation. Seminars in immunopathology Narcolepsy is a rare chronic neurological disorder characterized by an irresistible excessive daytime sleepiness and cataplexy. The disease is considered to be the result of the selective disruption of neuronal cells in the lateral hypothalamus expressing the neuropeptide hypocretin, which controls the sleep-wake cycle. Diagnosis and management of narcolepsy represent still a substantial medical challenge due to the large heterogeneity in the clinical manifestation of the disease as well as to the lack of understanding of the underlying pathophysiological mechanisms. However, significant advances have been made in the last years, thus opening new perspective in the field. This review describes the current knowledge of clinical presentation and pathology of narcolepsy as well as the existing diagnostic criteria and therapeutic intervention for the disease management. Recent evidence on the potential immune-mediated mechanisms that may underpin the disease establishment and progression are also highlighted. 10.1007/s00281-022-00933-9