- MeSH
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Narcolepsy * drug therapy MeSH
- Central Nervous System Stimulants therapeutic use pharmacology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Adolescent MeSH
- Publication type
- Letter MeSH
Little attention has been paid to the long-term development of idiopathic hypersomnia symptoms and idiopathic hypersomnia comorbidities. The aim of this study was to describe the general health of patients with idiopathic hypersomnia years after the initial diagnosis, focusing on current subjective hypersomnolence and the presence of its other possible causes. Adult patients diagnosed with idiopathic hypersomnia ≥ 3 years ago at sleep centres in Prague and Kosice were invited to participate in this study. A total of 60 patients were examined (age 47.3 ± SD = 13.2 years, 66.7% women). In all participants, their hypersomnolence could not be explained by any other cause but idiopathic hypersomnia at the time of diagnosis. The mean duration of follow-up was 9.8 + 8.0 years. Fifty patients (83%) reported persisting hypersomnolence, but only 33 (55%) had no other disease that could also explain the patient's excessive daytime sleepiness and/or prolonged sleep. In two patients (3%), the diagnosis in the meantime had changed to narcolepsy type 2, and 15 patients (25%) had developed a disease or diseases potentially causing hypersomnolence since the initial diagnosis. Complete hypersomnolence resolution without stimulant treatment lasting longer than 6 months was reported by 10 patients (17%). To conclude, in a longer interval from the diagnosis of idiopathic hypersomnia, hypersomnolence may disappear or may theoretically be explained by another newly developed disease, or the diagnosis may be changed to narcolepsy type 2. Thus, after 9.8 years, only 55% of the examined patients with idiopathic hypersomnia had a typical clinical picture of idiopathic hypersomnia without doubts about the cause of the current hypersomnolence.
- MeSH
- Adult MeSH
- Idiopathic Hypersomnia * diagnosis epidemiology drug therapy MeSH
- Comorbidity MeSH
- Middle Aged MeSH
- Humans MeSH
- Narcolepsy * diagnosis epidemiology MeSH
- Disorders of Excessive Somnolence * diagnosis epidemiology complications MeSH
- Attention MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
STUDY OBJECTIVES: Microbial antigens can elicit an immune response leading to the production of autoantibodies cross-reacting with autoantigens. Still, their clinical significance in human sera in the context of brain diseases is unclear. Therefore, assessment of natural autoantibodies reacting with their neuropeptides may elucidate the autoimmune etiology of central hypersomnias. The study aims to determine whether serum autoantibody levels differ in patients with different types of central hypersomnias (narcolepsy type 1 and 2, NT1 and NT2; idiopathic hypersomnia, IH) and healthy controls and if the differences could suggest the participation of autoantibodies in disease pathogenesis. METHODS: Sera from 91 patients with NT1, 27 with NT2, 46 with IH, and 50 healthy controls were examined for autoantibodies against assorted neuropeptides. Participants were screened using questionnaires related to sleep disorders, quality of life, and mental health conditions. In addition, serum biochemical parameters and biomarkers of microbial penetration through the intestinal wall were determined. RESULTS: A higher prevalence of autoantibodies against neuropeptides was observed only for alpha-melanocytes-stimulating hormone (α-MSH) and neuropeptide glutamic acid-isoleucine (NEI), which differed slightly among diagnoses. Patients with both types of narcolepsy exhibited signs of microbial translocation through the gut barrier. According to the questionnaires, patients diagnosed with NT2 or IH had subjectively worse life quality than patients with NT1. Patients displayed significantly lower levels of bilirubin and creatinine and slightly higher alkaline phosphatase values than healthy controls. CONCLUSIONS: Overall, serum anti-neuronal antibodies prevalence is rare, suggesting that their participation in the pathophysiology of concerned sleep disorders is insignificant. Moreover, their levels vary slightly between diagnoses indicating no major diagnostic significance.
- MeSH
- Autoantibodies MeSH
- Quality of Life MeSH
- Humans MeSH
- Narcolepsy * epidemiology MeSH
- Neuropeptides * MeSH
- Disorders of Excessive Somnolence * epidemiology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
In recent years, there has been an increased interest in elucidating the influence of the gut microbiota on sleep physiology. The gut microbiota affects the central nervous system by modulating neuronal pathways through the neuroendocrine and immune system, the hypothalamus-pituitary-adrenal axis, and various metabolic pathways. The gut microbiota can also influence circadian rhythms. In this study, we observed the gut microbiota composition of patients suffering from narcolepsy type 1, narcolepsy type 2, and idiopathic hypersomnia. We did not observe any changes in the alpha diversity of the gut microbiota among patient groups and healthy controls. We observed changes in beta diversity in accordance with Jaccard dissimilarities between the control group and groups of patients suffering from narcolepsy type 1 and idiopathic hypersomnia. Our results indicate that both these patient groups differ from controls relative to the presence of rare bacterial taxa. However, after adjustment for various confounding factors such as BMI, age, and gender, there were no statistical differences among the groups. This indicates that the divergence in beta diversity in the narcolepsy type 1 and idiopathic hypersomnia groups did not arise due to sleep disturbances. This study implies that using metabolomics and proteomics approaches to study the role of microbiota in sleep disorders might prove beneficial.
- MeSH
- Idiopathic Hypersomnia * MeSH
- Humans MeSH
- Narcolepsy * MeSH
- Disorders of Excessive Somnolence * MeSH
- Sleep Wake Disorders * MeSH
- Sleep MeSH
- Gastrointestinal Microbiome * MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- MeSH
- Humans MeSH
- Methylphenidate pharmacology adverse effects therapeutic use MeSH
- Adolescent MeSH
- Narcolepsy * diagnosis drug therapy MeSH
- Polysomnography methods MeSH
- Treatment Outcome MeSH
- Check Tag
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
- MeSH
- Child MeSH
- Adult MeSH
- Idiopathic Hypersomnia diagnosis drug therapy MeSH
- Cataplexy diagnosis drug therapy MeSH
- Humans MeSH
- Narcolepsy diagnosis drug therapy MeSH
- Polysomnography methods MeSH
- Disorders of Excessive Somnolence * diagnosis etiology classification MeSH
- Sleep Latency physiology MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms and interactions with environmental triggers in a multi-ethnic sample of 6,073 cases and 84,856 controls. We fine-mapped GWAS signals within HLA (DQ0602, DQB1*03:01 and DPB1*04:02) and discovered seven novel associations (CD207, NAB1, IKZF4-ERBB3, CTSC, DENND1B, SIRPG, PRF1). Significant signals at TRA and DQB1*06:02 loci were found in 245 vaccination-related cases, who also shared polygenic risk. T cell receptor associations in NT1 modulated TRAJ*24, TRAJ*28 and TRBV*4-2 chain-usage. Partitioned heritability and immune cell enrichment analyses found genetic signals to be driven by dendritic and helper T cells. Lastly comorbidity analysis using data from FinnGen, suggests shared effects between NT1 and other autoimmune diseases. NT1 genetic variants shape autoimmunity and response to environmental triggers, including influenza A infection and immunization with Pandemrix®.
- MeSH
- Autoimmunity genetics MeSH
- Autoimmune Diseases * epidemiology genetics MeSH
- Influenza, Human * epidemiology genetics MeSH
- Humans MeSH
- Narcolepsy * chemically induced genetics MeSH
- Influenza Vaccines * adverse effects MeSH
- Influenza A Virus, H1N1 Subtype * genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Research Support, N.I.H., Extramural MeSH
Cíl: Studie si kladla za cíl ověřit vhodnost použití Škály tíže narkolepsie (Narcolepsy Severity Scale; NSS) jako základního klinického nástroje pro stanovení subjektivní tíže onemocnění u pacientů s narkolepsií typu 1 (NT1) v ČR. Soubor a metodika: Celkem 78 pacientů ze 2 spánkových center s diagnózou NT1 (29 mužů, 49 žen, průměrný věk 36,1 ± 11,7 let, rozmezí 18–71 let, z toho léčených n = 51) vyplnilo škálu NSS sestávající z 15 otázek zaměřených na výskyt, frekvenci a dopad na denní aktivity všech hlavních narkoleptických příznaků. Současně byli instruováni vyplnit Epworthskou škálu spavosti (Epworth Sleepiness Scale; ESS), Škálu tíže únavy (Fatigue Severity Scale; FSS), Škálu hodnocení úzkosti a deprese při hospitalizaci (Hospital Anxiety and Depression Rating Scale; HADS) a zkrácenou verzi Dotazníku kvality života (Quality of Life Questionnaire; SF-36). Výsledky: Škála NSS vykazuje dobrou vnitřní konzistenci dotazníku pomocí koeficientu Cronbachova a, která je pro celou kohortu pacientů s NT1 0,80, pro skupinu léčených pacientů 0,79 a pro skupinu neléčených pacientů 0,82. Keiser-Meyer-Olkinův index pro celou kohortu je 0,73, což potvrzuje dostatečnou strukturální validitu dotazníku. Nebyl zjištěn signifikantní rozdíl ve skóre NSS léčených a neléčených pacientů, nicméně byla potvrzena korelace celkového skóre NSS s ESS (ρ = 0,61; p < 0,0001) a FSS (ρ = 0,4438; p < 0,0001). Závěr: NSS představuje vhodný a snadno aplikovatelný klinický nástroj ke stanovení subjektivní tíže onemocnění, dobře vystihuje hlavní narkoleptické příznaky a hodnotí jejich vliv na denní aktivity.
Aim: The aim of the study was to verify the applicability of the Narcolepsy Severity Scale (NSS) as a basic clinical tool for determining the subjective severity of the disease in patients with narcolepsy type 1 (NT1) in the Czech Republic. Patients and methods: A total of 78 patients from 2 sleep centers with a diagnosis of NT1 (29 men, 49 women, mean age 36.1 ± 11.7 years, range 18–71 years, N = 51 were treated) completed the NSS scale consisting of 15 questions focusing on the occurrence, frequency, and impact on daily activities of all major narcoleptic symptoms. At the same time, they were instructed to complete the Epworth Sleepiness Scale (ESS), the Fatigue Severity Scale (FSS), the Hospital Anxiety and Depression Rating Scale (HADS) and a short version of the Quality of Life Questionnaire (SF-36). Results: The NSS scale shows good internal consistency of the questionnaire using Cronbach‘s a, which is 0.80 for the whole cohort of NT1 patients, 0.79 for the treated group and 0.82 for the untreated group. The Keiser-Meyer-Olkin index for the entire cohort is 0.73, confirming sufficient structural validity of the questionnaire. There was no significant difference in the NSS scores of treated and untreated patients; however, the correlation of the total NSS score with ESS (ρ = 0.61; P < 0.0001) and FSS (ρ = 0.4438; P < 0.0001) was confirmed. Conclusions: The NSS is a convenient and practical clinical tool for determining the subjective severity of the disease, well capturing the main narcoleptic symptoms and assessing their impact on daily activities.
- MeSH
- Humans MeSH
- Narcolepsy diagnosis drug therapy physiopathology MeSH
- Parasomnias diagnosis therapy MeSH
- Sleep Disorders, Circadian Rhythm diagnosis MeSH
- Sleep Initiation and Maintenance Disorders diagnosis drug therapy MeSH
- Sleep Wake Disorders * drug therapy pathology therapy MeSH
- Restless Legs Syndrome diagnosis drug therapy MeSH
- Sleep Apnea Syndromes diagnosis therapy MeSH
- Check Tag
- Humans MeSH
