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Keywords = central disorders of hypersomnolence

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23 pages, 741 KiB  
Review
Pediatric Narcolepsy Type 1: A State-of-the-Art Review
by Valentina Baldini, Francesco Biscarini, Giorgia Varallo, Fabio Pizza and Giuseppe Plazzi
Clin. Transl. Neurosci. 2024, 8(3), 25; https://doi.org/10.3390/ctn8030025 - 30 Jun 2024
Cited by 1 | Viewed by 3909
Abstract
Narcolepsy is a chronic central disorder of hypersomnolence most frequently arising during childhood/adolescence. This review article examined the literature concerning the etiology, prevalence, clinical course, and treatment of children with type 1 narcolepsy (NT1). Core symptoms of pediatric NT1 include excessive daytime sleepiness [...] Read more.
Narcolepsy is a chronic central disorder of hypersomnolence most frequently arising during childhood/adolescence. This review article examined the literature concerning the etiology, prevalence, clinical course, and treatment of children with type 1 narcolepsy (NT1). Core symptoms of pediatric NT1 include excessive daytime sleepiness (EDS) and cataplexy, together with disrupted night sleep, sleep paralysis, and hypnagogic and hypnopompic hallucinations that can also occur. This disease frequently presents several comorbidities, such as obesity and precocious puberty, conditions ranging from psychological distress to psychiatric disorders, and cognitive aspects that further worsen the clinical picture. NT1 impairs the quality of life of children, thus calling for an early diagnosis and adequate treatment. To date, pharmacological treatments have been registered for childhood NT1 and can improve symptoms. Non-pharmacological approaches are also essential to improve patients’ well-being, ranging from behavioral treatments (e.g., planned napping) to psychosocial interventions (e.g., school programs). Multidisciplinary treatment management and early diagnosis are key factors in order to allow for adequate quality of life and development in children with NT1. Full article
(This article belongs to the Section Neuroscience/translational neurology)
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11 pages, 1717 KiB  
Article
SPHYNCS: The Use of the Swiss Narcolepsy Scale in a New Cohort of Patients with Narcolepsy and Its Borderland and Review of the Literature
by Kseniia Zub, Jan D. Warncke, Julia van der Meer, Elena S. Wenz, Livia G. Fregolente, Panagiotis Bargiotas, Gülçin Benbir Şenel, Christian Sturzenegger, Gert Jan Lammers, Ulf Kallweit, Markus H. Schmidt, Ramin Khatami, Zhongxing Zhang, Sigrid von Manitius, Silvia Miano, Jens G. Acker, Matthias Strub and Claudio L. A. Bassetti
Clin. Transl. Neurosci. 2024, 8(1), 2; https://doi.org/10.3390/ctn8010002 - 20 Dec 2023
Cited by 1 | Viewed by 2435
Abstract
Introduction and aims: Narcolepsy type 1 (NT1) is a central disorder of hypersomnolence (CDH) characterized by excessive daytime sleepiness and cataplexy. The Swiss Narcolepsy Scale (SNS), which includes the updated and short (sSNS) versions, has recently been introduced as a reliable diagnostic tool [...] Read more.
Introduction and aims: Narcolepsy type 1 (NT1) is a central disorder of hypersomnolence (CDH) characterized by excessive daytime sleepiness and cataplexy. The Swiss Narcolepsy Scale (SNS), which includes the updated and short (sSNS) versions, has recently been introduced as a reliable diagnostic tool for identifying NT1. This study aims to assess the validity of the SNS scales in a new cohort of patients with CDH, while also introducing the French and Italian versions of the SNS and providing a summary of the existing literature on SNS. Materials and methods: The current study is based on the international Swiss Primary Hypersomnolence and Narcolepsy Cohort Study (iSPHYNCS) which aims to identify new biomarkers for CDH. Diagnostic accuracy of the SNS was assessed by calculating sensitivity, specificity, positive predictive value, and negative predictive value. Results: In our population, 108 participants with suspected CDH (including 28 NT1 patients) and 14 healthy controls completed the scale. Original SNS, updated SNS and sSNS scores showed a high sensitivity (86%, 89% and 79%, respectively) and high specificity (96%, 90% and 95%, respectively) for diagnosing NT1 compared to other CDH. The French version was completed by 5 participants, and the Italian version by 8 participants. Regarding previous studies, the SNS has now been assessed in six different populations, involving a total of 1247 subjects (including 326 with narcolepsy with cataplexy/NT1), suggesting high sensitivity (85–100%) and specificity (86–100%) of the SNS for the diagnosis of NT1. Conclusion: The SNS is a simple screening tool validated in seven languages (German, English, French, Italian, Dutch, Turkish and Japanese), demonstrating high sensitivity and specificity for the diagnosis of NT1. Full article
(This article belongs to the Special Issue Sleep–Wake Medicine)
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13 pages, 321 KiB  
Review
Pharmacological Treatments of Sleep–Wake Disorders: Update 2023
by Marcel S. Kallweit, Nayeli P. Kallweit and Ulf Kallweit
Clin. Transl. Neurosci. 2023, 7(4), 42; https://doi.org/10.3390/ctn7040042 - 29 Nov 2023
Cited by 3 | Viewed by 7053
Abstract
Biological, environmental, behavioral, and social factors can influence sleep and lead to sleep disorders or diseases. Sleep disorders are common, numerous, and heterogeneous in terms of their etiology, pathogenesis, and symptomatology. The management of sleep–wake circadian disorders (SWCDs) includes education on sleep hygiene, [...] Read more.
Biological, environmental, behavioral, and social factors can influence sleep and lead to sleep disorders or diseases. Sleep disorders are common, numerous, and heterogeneous in terms of their etiology, pathogenesis, and symptomatology. The management of sleep–wake circadian disorders (SWCDs) includes education on sleep hygiene, behavioral strategies, psychotherapy (cognitive behavioral therapy (CBT), particularly), instrument-based treatments (i.e., positive airway pressure therapy, hypoglossal nerve stimulation), and pharmacotherapy. Depending on the disease, therapy varies and is executed sequentially or can be a combination of several forms of therapy. Drugs used for SWCDs include traditional sleep- or wake-promoting agents and chronotherapeutic agents. Recently, novel medications, which more precisely act on specific neurochemical systems (i.e., the orexin system) important for sleep and waking, are also increasingly being used. In this review, the pharmacotherapy of common sleep disorders (insomnia, sleep-related breathing disorder, central disorders of hypersomnolence, circadian rhythm sleep–wake disorders, parasomnias, and sleep-related movement disorders) embedded in the overall therapeutic concept of each disorder is presented. There is also an outlook on possible future pharmacotherapies. Full article
(This article belongs to the Special Issue Sleep–Wake Medicine)
6 pages, 981 KiB  
Communication
The Swiss Narcolepsy Network (SNaNe)
by Claudio L. A. Bassetti, Ramin Khatami, Silvia Miano, Elena Wenz and Esther Werth
Clin. Transl. Neurosci. 2023, 7(4), 31; https://doi.org/10.3390/ctn7040031 - 13 Oct 2023
Cited by 1 | Viewed by 4135
Abstract
The Swiss Narcolepsy Network (SNaNe) was founded in 2017 as a non-profit organization with the vision of improving the care of patients with narcolepsy, central disorders of hypersomnolence (CDH), and rare sleep disorders. The SNaNe aims at maximizing the speed of diagnosis, minimizing [...] Read more.
The Swiss Narcolepsy Network (SNaNe) was founded in 2017 as a non-profit organization with the vision of improving the care of patients with narcolepsy, central disorders of hypersomnolence (CDH), and rare sleep disorders. The SNaNe aims at maximizing the speed of diagnosis, minimizing difficulties stemming from the rare nature of these conditions, and providing patients with optimum health care throughout the course of their disease. In addition, the SNaNe promotes education, awareness, and research on CDH and rare sleep disorders. The article reports the current structure, organization, and the following main activities of the SNaNe: (1) the discussion of complex patient cases; (2) the organization of the Swiss Narcolepsy Days; (3) the coordination of multicenter research projects (e.g., SPHYNCS and iSPHYNCS studies); (4) the establishment of an anonymous Swiss registry for CDH patients (SNaNe Data Registry); (5) the collaboration with the national patients’ organization (SNAG); and (6) the collaboration with other national and international scientific, professional, and patients’ (eNAP) organizations. Full article
(This article belongs to the Special Issue Sleep–Wake Medicine)
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11 pages, 668 KiB  
Article
Muscle Pain Sensitivity and Prevalence of Temporomandibular Disorders in Patients with Narcolepsy with Cataplexy: A Controlled Cohort Study
by Maria Lavinia Bartolucci, Serena Incerti Parenti, Fabio Pizza, Alessandro Maglioni, Stefano Vandi, Francesco Bortolotti, Giuseppe Plazzi and Giulio Alessandri-Bonetti
Appl. Sci. 2023, 13(12), 6917; https://doi.org/10.3390/app13126917 - 7 Jun 2023
Viewed by 1869
Abstract
Disturbed nocturnal sleep contributes to the central sensitization of pain, thus predisposing to orofacial pain. Central disorders of hypersomnolence are characterized by excessive daytime sleepiness (EDS) not linked to impairment of nocturnal sleep or misaligned circadian rhythms. The main disorder of this group [...] Read more.
Disturbed nocturnal sleep contributes to the central sensitization of pain, thus predisposing to orofacial pain. Central disorders of hypersomnolence are characterized by excessive daytime sleepiness (EDS) not linked to impairment of nocturnal sleep or misaligned circadian rhythms. The main disorder of this group is narcolepsy type 1 (NT1), which seems to be related to alterations in pain perception mediation, supposedly caused by low orexin levels. The aim of this study was to evaluate the pain sensitivity and the prevalence of temporomandibular disorders (TMDs) in patients with NT1. After a 3-day hospital evaluation with laboratory polysomnography, 39 consecutive adult patients diagnosed with NT1 and 39 matched heathy controls were evaluated by means of Axis I and Axis II of the Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) protocol. Furthermore, pain sensitivity was investigated by measuring the pressure pain thresholds (PPTs) on the head–neck muscles by means of a Fischer algometer. No significant differences were found between the PPTs of the two groups for all the muscles evaluated, nor in the prevalence of TMD diagnoses, but the NT1 group reported significantly higher values in the Patient Health Questionnaire (PHQ-9), corresponding to a depressive state. The present study presents an important investigation into NT1 patients, showing no alterations in pain perception and no differences in the prevalence of TMD diagnosis compared to the controls. Full article
(This article belongs to the Special Issue Orofacial Pain: Diagnosis and Treatment)
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11 pages, 1014 KiB  
Article
The Effect of Sleep Disorder Diagnosis on Mortality in End-Stage Renal Disease Patients
by Andrew Mixson, Jennifer L. Waller, Wendy B. Bollag, Varsha Taskar, Stephanie L. Baer, Sandeep Padala and William J. Healy
Appl. Sci. 2023, 13(9), 5354; https://doi.org/10.3390/app13095354 - 25 Apr 2023
Cited by 6 | Viewed by 1825
Abstract
Increased risk of all-cause mortality not accounted for by traditional cardiovascular risk factors has been linked to chronic kidney disease. This study tested the hypothesis that mortality may be greater in patients with end-stage renal disease (ESRD) and a sleep disorder diagnosis. The [...] Read more.
Increased risk of all-cause mortality not accounted for by traditional cardiovascular risk factors has been linked to chronic kidney disease. This study tested the hypothesis that mortality may be greater in patients with end-stage renal disease (ESRD) and a sleep disorder diagnosis. The United States Renal Data System database was queried to determine the effect of sleep disorder diagnoses on mortality in ESRD patients enrolled between 2004 and 2015. Sleep disorders were identified using International Classification of Diseases-9 and -10 codes. Mortality risk associated with sleep disorders was examined using Cox proportional hazards (CPH) modeling. In the final CPH model, sleep disorder diagnoses were associated with decreased risk of mortality, with hazard ratios (and 95% confidence intervals) for insomnia, hypersomnolence, restless leg syndrome, and obstructive/central sleep apnea of 0.76 (0.75–0.76), 0.81 (0.78–0.84), 0.79 (0.77–0.80), and 0.82 (0.81–0.82), respectively. Black or other race and Hispanic ethnicity, and to a small extent, female sex and increasing Charlson comorbidity index, were also associated with decreased risk, whereas increasing age, hemodialysis (versus peritoneal dialysis) and catheter or graft access type were associated with increased risk. This study suggests that the diagnosis of a sleep disorder may be associated with improved survival in ESRD patients. Full article
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9 pages, 261 KiB  
Article
Psychotic Episode and Schizophrenia in Slovakian Narcolepsy Database
by Eva Feketeová, Jozef Dragašek, Katarína Klobučníková, Peter Ďurdík, Simona Čarnakovič, Miriam Slavkovská and Martina Chylová
Brain Sci. 2023, 13(1), 43; https://doi.org/10.3390/brainsci13010043 - 24 Dec 2022
Cited by 5 | Viewed by 2121
Abstract
Narcolepsy type 1 (NT1), a central disorder of hypersomnolence, is associated with mood, anxiety or hyperactivity mental disorders. Association with psychotic episode or schizophrenia is rare and could be the source of diagnostic and therapeutic difficulties. Their frequency in the national narcolepsy database [...] Read more.
Narcolepsy type 1 (NT1), a central disorder of hypersomnolence, is associated with mood, anxiety or hyperactivity mental disorders. Association with psychotic episode or schizophrenia is rare and could be the source of diagnostic and therapeutic difficulties. Their frequency in the national narcolepsy database has not been systematically studied. The aim of the presented study was to calculate the frequency of NT1 patients diagnosed with psychosis and/or schizophrenia, to identify clinical characteristics of these cases, and to look for narcoleptic and psychotic symptoms during re-evaluation years later. We identified three (4%) cases diagnosed with a psychotic episode in the course of NT1. They were diagnosed with NT1 by age ≤18 years. In the re-evaluation (mean follow-up 9.8 years), we identified one case with a dual diagnosis of NT1 and schizophrenia; two cases were diagnosed with a solitary psychotic episode in the course of NT1. NT1 patients diagnosed in the age ≤18 years are at higher risk of psychotic episode, and this may be related to higher vulnerability during the ongoing neurodevelopmental period. Comorbid schizophrenia with NT1 in the Slovakian Narcolepsy Database was within the prevalence expected in the general population. The solitary psychotic episode in the course of NT1 did not reduce the possibility of subsequent symptomatic treatment afterwards. Full article
(This article belongs to the Special Issue Women in Brain Science: Achievements, Challenges and Perspectives)
12 pages, 887 KiB  
Article
Central Disorders of Hypersomnolence: Association with Fatigue, Depression and Sleep Inertia Prevailing in Women
by Sona Nevsimalova, Jelena Skibova, Karolina Galuskova, Iva Prihodova, Simona Dostalova, Eszter Maurovich-Horvat and Karel Šonka
Brain Sci. 2022, 12(11), 1491; https://doi.org/10.3390/brainsci12111491 - 3 Nov 2022
Cited by 15 | Viewed by 3948
Abstract
Fatigue, depression, and sleep inertia are frequently underdiagnosed manifestations in narcolepsy and idiopathic hypersomnia. Our cross-sectional study design included diagnostic interview accompanied by assessment instruments and aimed to explore how these factors influence disease severity as well as to elucidate any sex predisposition. [...] Read more.
Fatigue, depression, and sleep inertia are frequently underdiagnosed manifestations in narcolepsy and idiopathic hypersomnia. Our cross-sectional study design included diagnostic interview accompanied by assessment instruments and aimed to explore how these factors influence disease severity as well as to elucidate any sex predisposition. One hundred and forty-eight subjects (female 63%) were divided into narcolepsy type 1 (NT1; n = 87, female = 61%), narcolepsy type 2 (NT2; n = 22, female = 59%), and idiopathic hypersomnia (IH; n = 39, female = 69%). All subjects completed a set of questionnaires: Epworth Sleepiness Scale (ESS), Hospital Anxiety and Depression Scales (HADS), Fatigue Severity Scale (FSS), and Sleep Inertia Questionnaire (SIQ). In narcoleptic subjects, questionnaire data were correlated with the Narcolepsy Severity Scale (NSS), and in subjects with idiopathic hypersomnia, with the Idiopathic Hypersomnia Severity Scale (IHSS). The highest correlation in narcoleptic subjects was found between NSS and ESS (r = 0.658; p < 0.0001), as well as FSS (r = 0.506; p < 0.0001), while in subjects with idiopathic hypersomnia, the most prominent positive correlations were found between IHSS and SIQ (r = 0.894; p < 0.0001), FSS (r = 0.812; p < 0.0001), HADS depression scale (r = 0.649; p = 0.0005), and HADS anxiety scale (r = 0.528; p < 0.0001). ESS showed an analogic correlation with disease severity (r = 0.606; p < 0.0001). HADS anxiety and depression scores were higher in females (p < 0.05 and p < 0.01), with similar results for FSS and SIQ scales (p < 0.05 for both), and a trend toward higher ESS values in females (p = 0.057). Our study illustrates that more attention should be focused on pathophysiological mechanisms and associations of fatigue, depression, as well as sleep inertia in these diseases; they influence the course of both illnesses, particularly in women. Full article
(This article belongs to the Special Issue Women in Brain Science: Achievements, Challenges and Perspectives)
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11 pages, 561 KiB  
Review
Sleep Disorders in Adults with Prader–Willi Syndrome: Review of the Literature and Clinical Recommendations Based on the Experience of the French Reference Centre
by Pauline Dodet, Federica Sanapo, Smaranda Leu-Semenescu, Muriel Coupaye, Alice Bellicha, Isabelle Arnulf, Christine Poitou and Stefania Redolfi
J. Clin. Med. 2022, 11(7), 1986; https://doi.org/10.3390/jcm11071986 - 2 Apr 2022
Cited by 4 | Viewed by 2881
Abstract
Prader–Willi syndrome (PWS) is a rare, genetic, multisymptomatic, neurodevelopmental disease commonly associated with sleep alterations, including sleep-disordered breathing and central disorders of hypersomnolence. Excessive daytime sleepiness represents the main manifestation that should be addressed by eliciting the detrimental effects on quality of life [...] Read more.
Prader–Willi syndrome (PWS) is a rare, genetic, multisymptomatic, neurodevelopmental disease commonly associated with sleep alterations, including sleep-disordered breathing and central disorders of hypersomnolence. Excessive daytime sleepiness represents the main manifestation that should be addressed by eliciting the detrimental effects on quality of life and neurocognitive function from the patients’ caregivers. Patients with PWS have impaired ventilatory control and altered pulmonary mechanics caused by hypotonia, respiratory muscle weakness, scoliosis and obesity. Consequently, respiratory abnormalities are frequent and, in most cases, severe, particularly during sleep. Adults with PWS frequently suffer from sleep apnoea syndrome, sleep hypoxemia and sleep hypoventilation. When excessive daytime sleepiness persists after adequate control of sleep-disordered breathing, a sleep study on ventilatory treatment, followed by an objective measurement of excessive daytime sleepiness, is recommended. These tests frequently identify central disorders of hypersomnolence, including narcolepsy, central hypersomnia or a borderline hypersomnolent phenotype. The use of wake-enhancing drugs (modafinil, pitolisant) is discussed in multidisciplinary expert centres for these kinds of cases to ensure the right balance between the benefits on quality of life and the risk of psychological and cardiovascular side effects. Full article
(This article belongs to the Special Issue Endocrinology and Metabolic Diseases: Prader-Willi Syndrome)
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