We have verified the eligibility of the Idiopathic Hypersomnia Severity Scale (IHSS) as a basic clinical tool for determining the subjective severity of illness in patients with idiopathic hypersomnia (IH) in the Czech Republic. Total of 37 patients with a diagnosis of IH (9 men, 28 women, mean age 40.2 ± 12.8) completed the IHSS scale. At the same time, they were instructed to complete the Epworth Sleepiness Scale (ESS), the Fatigue Severity Scale (FSS), the Hospital Anxiety and Depression Scales (HADS-A and HADS-D), and a short version of the Quality of Life Questionnaire (SF-36). The control group consisted of 88 age- and sex-matched healthy volunteers. The IHSS scale showed good internal consistency of the questionnaire using Cronbach's α, which was 0.88. The KMO (Keiser-Meyer-Olkin index) was 0.72, confirming sufficient structural validity of the questionnaire. The correlation of the total IHSS score with the ESS (ρ = 0.59, p=0.0001) and FSS (ρ = 0.84, p<0.0001) as well as with the HADS-A scales (ρ = 0.64, p<0.0001), HADS-D (ρ = 0.79, p<0.0001) and SF-36 in both the mental (ρ = -0.85, p<0.0001) and physical health (ρ = -0.66, p<0.0001) components. The IHSS is a convenient and easy-to-apply clinical tool to assess subjective severity of illness, which describes well the symptoms of idiopathic hypersomnia and assesses their impact on health and daily activities.

• MeSH
• dospělí MeSH
• idiopatická hypersomnie * diagnóza   MeSH
• kvalita života MeSH
• lidé středního věku MeSH
• lidé MeSH
• průzkumy a dotazníky MeSH
• reprodukovatelnost výsledků MeSH
• stupeň závažnosti nemoci * MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• validační studie MeSH
• Geografické názvy
• Česká republika 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
• 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

The review deals with idiopathic hypersomnia, focusing mostly on the research findings about the presence, onset and severity of excessive daytime sleepiness and depressive symptoms in patients with idiopathic hypersomnia.

• MeSH
• deprese diagnóza   MeSH
• idiopatická hypersomnie * MeSH
• lidé MeSH
• poruchy nadměrné spavosti * diagnóza   etiologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Narkolepsie typ 1 (NT1), narkolepsie typ 2 (NT2) a idiopatická hypersomnie (IH) mají hlavní symptom centrální hypersomnii (CH). Etiopatofyziologie NT1 je spojena s deficitem hypokretinu autoimunitního původu. Etiopatofyziologie NT2 a IH je neznámá. Jsou pochybnosti o nezávislosti NT2 a IH a o jejich dlouhodobém průběhu. Střevní microbiota má vliv na mozkové funkce a chování buď přímo přes tvorbu mediátorů nebo nepřímo prostřednictvím autoprotilátek proti vybraným neuronům. Lze proto vyslovit hypotézu, že microbiota hraje roli v etiopatofyziologii nemocí s CH a může modifikovat aktuální intenzitu samotné hypersomnie. Nemocní s CH a zdravé kontroly budou klinicky vyšetřeni (včetně dlouhodobého vývoje NT2 a IH). Jejich stolice bude geneticky analyzována s cílem definovat mikrobiom střevní mikrobioty. Bude pátráno po autoprotilátkách. Výsledky budou vzájemně korelovány. Tento výzkum má osvětlit patofyziologii nemocí s CH a také má pomoci v doporučeních nemocným a může otevřít nové směry léčby.; Narcolepsy type 1 (NT1), narcolepsy type 2 (NT2) and idiopathic hypersomnia (IH) have as a main symptom central hypersomnia (CH). The etiopathophysiology of NT1 is related to the hypocretin deficiency of autoimmune origin. The etiopathophysiology of NT2 and IH is unknown. There are doubts on the independence of NT2 and IH and their long-term course. The gut microbiota has an impact on brain functions and behavior either directly by mediators’ production or indirectly via autoantibodies against selected neurons. This evokes the hypothesis that microbiota has a role in etiopathophysiology of diseases with CH and may modify actual intensity of hypersomnia itself. Patients with CH and healthy controls will be clinically examined (including the long-term evolution of NT2 and IH). Their stools will be genetically analyzed in attempt to define the microbiome of the gut microbiota. The autoantibodies will be searched in their blood. The results will be mutually correlated. This research may elucidate the pathophysiology of CH disorders as well as may help to counselling the patients and fina

• Klíčová slova
• autoimmunity, mikrobiom, microbiome, autoprotilátky, autoantibodies, idiopatická hypersomnie, Idiopathic hypersomnia, autoimunita, elderly, extrakce DNA, vysoce výkonné sekvenování (HTS), funkce střevní bariéry, DNA extraction, high throughput sequencing (HTS), stáří, mikrobiota, microbiota, Narkolepsie typ 1 - narkolepsie s kataplexií, narkolepsie typ 2 - narkolepsie bez kataplexie, centrální hypersomnie, vývoj nemoci, Narcolepsy type 1 - narcolepsy with cataplexy, narcolepsy type 2 - narcolepsy without cataplexy, central hypersomnia, intesintal barrier function, disease evolution,

• NLK Publikační typ
• závěrečné zprávy o řešení grantu AZV MZ ČR