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
- dospělí MeSH
- idiopatická hypersomnie * diagnóza epidemiologie farmakoterapie MeSH
- komorbidita MeSH
- lidé středního věku MeSH
- lidé MeSH
- narkolepsie * diagnóza epidemiologie MeSH
- poruchy nadměrné spavosti * diagnóza epidemiologie komplikace MeSH
- pozornost MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- MeSH
- lidé MeSH
- methylfenidát farmakologie škodlivé účinky terapeutické užití MeSH
- mladiství MeSH
- narkolepsie * diagnóza farmakoterapie MeSH
- polysomnografie metody MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- MeSH
- dítě MeSH
- dospělí MeSH
- idiopatická hypersomnie diagnóza farmakoterapie MeSH
- kataplexie diagnóza farmakoterapie MeSH
- lidé MeSH
- narkolepsie diagnóza farmakoterapie MeSH
- polysomnografie metody MeSH
- poruchy nadměrné spavosti * diagnóza etiologie klasifikace MeSH
- spánková latence fyziologie MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- MeSH
- lidé MeSH
- narkolepsie diagnóza farmakoterapie patofyziologie MeSH
- parasomnie diagnóza terapie MeSH
- poruchy cirkadiánního rytmu (spánek) diagnóza MeSH
- poruchy iniciace a udržování spánku diagnóza farmakoterapie MeSH
- poruchy spánku a bdění * farmakoterapie patologie terapie MeSH
- syndrom neklidných nohou diagnóza farmakoterapie MeSH
- syndromy spánkové apnoe diagnóza terapie MeSH
- Check Tag
- lidé MeSH
Denná spavosť (DS) predstavuje pre postihnutého jedinca závažné riziko v podobe sťaženého pracovného uplatnenia a zníženej kvality života a v závislosti od jej príčiny aj metabolické a kardiovaskulárne následky. Práca analyzuje charakter ospalosti v závislosti od jej príčiny, diagnostické postupy a terapeutické možnosti. Na príklade piatich kazuistík poukazuje na rozdiely v klinickej manifestácii spavosti pri narkolepsii 1. typu, Kleinovom-Levinovom syndróme, epilepsii, sclerosis multiplex a osmotickom demyelinizačnom syndróme, dokladuje uplatnenie diagnostických a terapeutických možností v praxi.
Daytime sleepiness (DS) poses a serious risk to the affected individual in the form of difficult employment and reduced quality of life and, depending on its cause, also metabolic and cardiovascular consequences. The work analyzes the nature of sleepiness depending on its cause, diagnostic procedures and therapeutic options. On the example of five case reports points out the differences in clinical manifestation of sleepiness in narcolepsy type 1, Klein-Levin syndrome, epilepsy, multiple sclerosis and osmotic demyelinating syndrome, it demonstrates the application of diagnostic and therapeutic options in clinical practice.
BACKGROUND AND OBJECTIVES: Recent studies fueled doubts as to whether all currently defined central disorders of hypersomnolence are stable entities, especially narcolepsy type 2 and idiopathic hypersomnia. New reliable biomarkers are needed, and the question arises of whether current diagnostic criteria of hypersomnolence disorders should be reassessed. The main aim of this data-driven observational study was to see whether data-driven algorithms would segregate narcolepsy type 1 and identify more reliable subgrouping of individuals without cataplexy with new clinical biomarkers. METHODS: We used agglomerative hierarchical clustering, an unsupervised machine learning algorithm, to identify distinct hypersomnolence clusters in the large-scale European Narcolepsy Network database. We included 97 variables, covering all aspects of central hypersomnolence disorders such as symptoms, demographics, objective and subjective sleep measures, and laboratory biomarkers. We specifically focused on subgrouping of patients without cataplexy. The number of clusters was chosen to be the minimal number for which patients without cataplexy were put in distinct groups. RESULTS: We included 1,078 unmedicated adolescents and adults. Seven clusters were identified, of which 4 clusters included predominantly individuals with cataplexy. The 2 most distinct clusters consisted of 158 and 157 patients, were dominated by those without cataplexy, and among other variables, significantly differed in presence of sleep drunkenness, subjective difficulty awakening, and weekend-week sleep length difference. Patients formally diagnosed as having narcolepsy type 2 and idiopathic hypersomnia were evenly mixed in these 2 clusters. DISCUSSION: Using a data-driven approach in the largest study on central disorders of hypersomnolence to date, our study identified distinct patient subgroups within the central disorders of hypersomnolence population. Our results contest inclusion of sleep-onset REM periods in diagnostic criteria for people without cataplexy and provide promising new variables for reliable diagnostic categories that better resemble different patient phenotypes. Cluster-guided classification will result in a more solid hypersomnolence classification system that is less vulnerable to instability of single features.
- MeSH
- idiopatická hypersomnie * diagnóza MeSH
- kataplexie * diagnóza MeSH
- lidé MeSH
- mladiství MeSH
- narkolepsie * diagnóza farmakoterapie MeSH
- poruchy nadměrné spavosti * diagnóza epidemiologie MeSH
- shluková analýza MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- Publikační typ
- časopisecké články MeSH
- pozorovací studie MeSH
Ve druhé části článku o spánkové medicíně v pediatrii jsou popsány nejčastější parasomnie, poruchy dýchání ve spánku a narkolepsie. Parasomnie (náměsíčnost, noční děsy, noční enuréza) mají tendenci s věkem ustoupit nebo zcela vymizet. Zatímco enuréza představuje převážně sociální problém, náměsíčnost je spojena s rizikem zranění. Obstrukční spánková apnoe je porucha dýchání ve spánku, která má maximum výskytu v předškolním věku. Kromě negativního dopadu na kognitivní funkce a chování dítěte ovlivňuje také kardiovaskulární systém a metabolické parametry. Významný rizikový faktor představuje obezita. Narkolepsie je vzácné chronické onemocnění, které se projevuje nadměrnou denní spavostí. Příznaky mohou být nenápadné - školní selhávání, nepozornost, změny chování. Diagnostiku poruch dýchání ve spánku a narkolepsie umožňuje noční polysomnografie.
The second part of the manuscript on pediatric sleep medicine deals with the most frequent parasomnias, sleep disordered breathing and narcolepsy. Parasomnias (somnambulism, sleep terrors, sleep enuresis) have tendency to disappear with age. While nocturnal enuresis represents mostly social problem, somnambulism is connected with increased risk of injury. Obstructive sleep apnea is a type of sleep disordered breathing prevailing in preschool age. Apart from negative influence on cognitive functions and behavior it has an impact on cardiovascular system and metabolic parameters. A significant risk factor for obstructive sleep apnea is obesity. Narcolepsy is a rare chronic disorder with symptoms of excessive daytime sleepiness. Signs of narcolepsy can be inconspicious - school failure, poor concentration, behavioral changes. Diagnosis of sleep disordered breathing and narcolepsy is based on nocturnal polysomnography.
- MeSH
- dítě MeSH
- enuréza diagnóza terapie MeSH
- lidé MeSH
- narkolepsie diagnóza terapie MeSH
- noční děsy MeSH
- parasomnie * diagnóza terapie MeSH
- polysomnografie MeSH
- poruchy spánku a bdění * diagnóza terapie MeSH
- somnambulismus MeSH
- syndromy spánkové apnoe diagnóza terapie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- přehledy MeSH
BACKGROUND AND AIM: 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 in adults-scheduled naps, modafinil, pitolisant, sodium oxybate (SXB), solriamfetol (all strong), methylphenidate, amphetamine derivates (both weak); (ii) cataplexy in adults-SXB, venlafaxine, clomipramine (all strong) and pitolisant (weak); (iii) excessive daytime sleepiness in children-scheduled naps, SXB (both strong), modafinil, methylphenidate, pitolisant, amphetamine derivates (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.
- MeSH
- dítě MeSH
- dospělí MeSH
- kataplexie * MeSH
- lidé MeSH
- modafinil terapeutické užití MeSH
- narkolepsie * diagnóza farmakoterapie MeSH
- oxybát sodný * terapeutické užití MeSH
- spánek MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- systematický přehled MeSH
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.
- MeSH
- dítě MeSH
- dospělí MeSH
- kataplexie * MeSH
- lidé MeSH
- modafinil terapeutické užití MeSH
- narkolepsie * diagnóza farmakoterapie MeSH
- oxybát sodný * terapeutické užití MeSH
- spánek MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- systematický přehled MeSH
BACKGROUND: There are limited data available on regional differences in the diagnosis and management of narcolepsy. In order to better understand worldwide trends in clinical assessment and management of narcolepsy, a survey of health-care providers was conducted by the World Sleep Society Narcolepsy task force. METHODS: A total of 146 surveys that included items on the diagnosis and management of narcolepsy were completed by practitioners representing 37 countries. RESULTS: Most of the participants were from Europe, North America, Oceania, Asia and Latin America. A consistent approach to applying the diagnostic criteria of Narcolepsy was documented with the exception of measurement of CSF hypocretin-1, which has limited availability. While the majority of practitioners (58%) reported not using the test, 1% indicated always evaluating CSF hypocretin-1 levels. There was much variability in the availability of currently recommended medications such as sodium oxybate and pitolisant; modafinil and antidepressants were the most commonly used medications. Amphetamines were unavailable in some countries. CONCLUSION: The results of the study highlight clinical and therapeutic realities confronted by worldwide physicians in the management of narcolepsy. While the diagnostic criteria of narcolepsy rely in part on the quantification of CSF hypocretin-1, few physicians reported having incorporated this test into their routine assessment of the condition. Regional differences in the management of narcolepsy appeared to be related to geographic availability and expense of the therapeutic agents.
- MeSH
- lidé MeSH
- narkolepsie * diagnóza farmakoterapie MeSH
- orexiny MeSH
- péče o pacienta MeSH
- polysomnografie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Asie MeSH
- Evropa MeSH
- Severní Amerika MeSH
