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.
- Klíčová slova
- comorbidity, depression, diagnosing, follow-up, hypersomnolence, idiopathic hypersomnia,
- 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
- práce podpořená grantem MeSH
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
- práce podpořená grantem MeSH
STUDY OBJECTIVES: In some patients, it is difficult to correctly nosologically classify daytime sleepiness. Clinical manifestations may be nonspecific; on the basis of objective measures it is possible to determine the current severity of sleepiness, but they do not always allow accurate diagnosis. It is especially difficult to distinguish between idiopathic hypersomnia (IH) and hypersomnia associated with a psychiatric disorder (PSY). METHODS: To find significant differences between the IH and PSY groups, we included 67 patients (IH, n = 15; PSY, n = 52) in the study, focusing on differences in self-reported symptoms, evaluating current depressive symptoms using the Beck Depression Inventory-II score and personality traits measured by the Temperament and Character Inventory. All of the patients underwent polysomnography, the Multiple Sleep Latency Test, and ad libitum sleep monitoring. RESULTS: The patients with IH showed greater difficulty than those in the PSY group with waking up in the morning (P < .001) and complained of memory (P = .04) and attention deficit (P = .006). They also showed higher total sleep time (P < .001) and sleep efficiency (P = .007) and a shorter mean sleep latency on the Multiple Sleep Latency Test (P < .001). Nevertheless, the IH and PSY groups did not differ in Beck Depression Inventory scores or personality characteristics. CONCLUSIONS: IH is a syndrome in which depression/external life stressors and personality characteristics also play a role. Patients with IH may benefit from the cooperation of sleep specialists with psychotherapists/psychiatrists. CITATION: Bušková J, Novák T, Miletínová E, et al. Self-reported symptoms and objective measures in idiopathic hypersomnia and hypersomnia associated with psychiatric disorders: a prospective cross-sectional study. J Clin Sleep Med. 2022;18(3):713-720.
- Klíčová slova
- depressivity *, hypersomnia associated with psychiatric disorder *, idiopathic hypersomnia *, personality traits *,
- MeSH
- duševní poruchy * komplikace MeSH
- idiopatická hypersomnie * komplikace diagnóza psychologie MeSH
- lidé MeSH
- narkolepsie * komplikace MeSH
- poruchy nadměrné spavosti * komplikace diagnóza MeSH
- prospektivní studie MeSH
- průřezové studie MeSH
- zpráva o sobě MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem 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.
- Klíčová slova
- Depressive symptoms, Excessive daytime sleepiness, Hypersomnia associated with a psychiatric disorder, Idiopathic hypersomnia, Mood disorder,
- 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
INTRODUCTION: Idiopathic hypersomnia (IH) is a rare orphan disease characterized by excessive daytime sleepiness, frequently accompanied by prolonged nocturnal sleep and difficulties awakening, termed sleep inertia or sleep drunkenness. Severe sleepiness usually causes a greater handicap than manifestations of narcolepsy. METHODS: Forty-three IH patients (17 male, mean age 42.8 ± SD 12.2 years, range 20-67), diagnosed in the past 20 years according to ICSD-2 or ICSD-3 criteria were invited for clinical examination to evaluate the course, manifestations and severity of the disease, as well as clinical comorbidities. The patients completed a set of questionnaires scoring sleepiness, sleep inertia, fatigue, depression, anxiety, circadian preference, and quality of life. RESULTS: IH patients were divided according to the duration of nocturnal sleep at the time of their diagnosis into two cohorts: (1) with normal sleep duration (n = 25, 58.1%) and (2) with long sleep duration (n = 18, 41.9%). The mean duration of ad libitum sleep per 22 h in the second cohort was 732.0 ± 115.4 min (range 603-1100), and women markedly prevailed (n = 14, 77.8%). Age at disease onset was younger in the group with long sleep duration (21.2 ± 11.4 years versus 28.1 ± 13.6 years, p = 0.028), their MSLT latency was longer (7.2 ± 3.7 min versus 5.1 ± 1.7 min, p = 0.005), a history of sleep inertia prevailed (p = 0.005), and daily naps were mostly non-refreshing (p = 0.014). Additionally, questionnaires in the group with long sleep duration showed more severe sleep inertia (p = 0.007), fatigue (p = 0.004), and a tendency towards evening chronotype (p = 0.001). CONCLUSIONS: IH patients with long sleep duration differ clinically as well as by objective measures at the time of diagnosis and in long-term follow up from IH patients without long 24-h sleep time. In our opinion they represent an independent clinical entity to be considered in the revised ICSD-3 criteria.
- Klíčová slova
- Clinical differences, ICDS-3 revision, Idiopathic hypersomnia, Objective measure distinctions, Sleep duration, Sleep inertia,
- MeSH
- dospělí MeSH
- idiopatická hypersomnie * diagnóza MeSH
- kvalita života MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- narkolepsie * MeSH
- polysomnografie MeSH
- poruchy nadměrné spavosti * diagnóza epidemiologie etiologie MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
The aim of this European initiative is to facilitate a structured discussion to improve the next edition of the International Classification of Sleep Disorders (ICSD), particularly the chapter on central disorders of hypersomnolence. The ultimate goal for a sleep disorders classification is to be based on the underlying neurobiological causes of the disorders with clear implication for treatment or, ideally, prevention and or healing. The current ICSD classification, published in 2014, inevitably has important shortcomings, largely reflecting the lack of knowledge about the precise neurobiological mechanisms underlying the majority of sleep disorders we currently delineate. Despite a clear rationale for the present structure, there remain important limitations that make it difficult to apply in routine clinical practice. Moreover, there are indications that the current structure may even prevent us from gaining relevant new knowledge to better understand certain sleep disorders and their neurobiological causes. We suggest the creation of a new consistent, complaint driven, hierarchical classification for central disorders of hypersomnolence; containing levels of certainty, and giving diagnostic tests, particularly the MSLT, a weighting based on its specificity and sensitivity in the diagnostic context. We propose and define three diagnostic categories (with levels of certainty): 1/"Narcolepsy" 2/"Idiopathic hypersomnia", 3/"Idiopathic excessive sleepiness" (with subtypes).
- Klíčová slova
- Cataplexy, Classification, Diagnosis, Excessive daytime sleepiness, Fatigue, Hypersomnia, Hypersomnolence, MSLT, Narcolepsy, Sleep, Sleep inertia,
- MeSH
- diagnóza * MeSH
- lidé MeSH
- poruchy nadměrné spavosti * klasifikace diagnóza MeSH
- poruchy spánku a bdění klasifikace diagnóza patofyziologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Geografické názvy
- Evropa MeSH
BACKGROUND: Childhood narcolepsy is associated with various emotional, behavioural and cognitive dysfunctions as well as with psychiatric and neurodevelopmental disorders: anxiety, depression, attention deficit hyperactivity disorder and psychosis. A relationship between these conditions is unclear - comorbidity or similar pathophysiological mechanisms can be suggested. OBJECTIVE: We reported four children with narcolepsy type 1 (NT1) and autism spectrum disorder (ASD) - Asperger syndrome (AS). RESULTS AND CONCLUSION: To the best of our knowledge co-occurrence of NT1 and AS has not been described in the literature as noted in this report.
- Klíčová slova
- Asperger syndrome, Autism spectrum disorders, Comorbidity, Hypocretin, Narcolepsy type 1,
- MeSH
- antidepresiva terapeutické užití MeSH
- Aspergerův syndrom diagnóza MeSH
- deprese diagnóza farmakoterapie MeSH
- dítě MeSH
- hyperkinetická porucha diagnóza MeSH
- komorbidita * MeSH
- lidé MeSH
- methylfenidát aplikace a dávkování MeSH
- narkolepsie komplikace MeSH
- poruchy nadměrné spavosti diagnóza farmakoterapie MeSH
- stadia spánku fyziologie MeSH
- tikové poruchy diagnóza MeSH
- úzkostné poruchy diagnóza farmakoterapie MeSH
- věk při počátku nemoci * MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- antidepresiva MeSH
- methylfenidát MeSH
BACKGROUND: The successive editions of the International Classification of Sleep Disorders (ICSD) reflect the evolution of the concepts of various sleep disorders. This is particularly the case for central disorders of hypersomnolence, with continuous changes in terminology and divisions of narcolepsy, idiopathic hypersomnia, and recurrent hypersomnia. According to the ICSD 2nd Edition (ICSD-2), narcolepsy with cataplexy (NwithC), narcolepsy without cataplexy (Nw/oC), idiopathic hypersomnia with long sleep time (IHwithLST), and idiopathic hypersomnia without long sleep time (IHw/oLST) are four, well-defined hypersomnias of central origin. However, in the absence of biological markers, doubts have been raised as to the relevance of a division of idiopathic hypersomnia into two forms, and it is not yet clear whether Nw/oC and IHw/oLST are two distinct entities. With this in mind, it was decided to empirically review the ICSD-2 classification by using a hierarchical cluster analysis to see whether this division has some relevance, even though the terms "with long sleep time" and "without long sleep time" are inappropriate. RESULTS: The cluster analysis differentiated three main clusters: Cluster 1, "combined monosymptomatic hypersomnia/narcolepsy type 2" (people initially diagnosed with IHw/oLST and Nw/oC); Cluster 2 "polysymptomatic hypersomnia" (people initially diagnosed with IHwithLST); and Cluster 3, narcolepsy type 1 (people initially diagnosed with NwithC). CONCLUSIONS: Cluster analysis confirmed that narcolepsy type 1 and polysymptomatic hypersomnia are independent sleep disorders. People who were initially diagnosed with Nw/oC and IHw/oLST formed a single cluster, referred to as "combined monosymptomatic hypersomnia/narcolepsy type 2."
- Klíčová slova
- Cluster analysis, Factor analysis, Idiopathic hypersomnia, Narcolepsy type 1, Narcolepsy type 2,
- MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- narkolepsie klasifikace diagnóza MeSH
- polysomnografie MeSH
- poruchy nadměrné spavosti klasifikace diagnóza MeSH
- shluková analýza MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Narcolepsy is a chronic disease commonly diagnosed in middle adulthood. However, the first symptoms often appear in childhood and/or adolescence. Pediatric cases of narcolepsy are among the most often underrecognised and underdiagnosed diseases. This fact raises questions about the reasons for such diagnostic delay from the clinical point of view, and what kind of help can be expected from auxiliary diagnostic examinations. The aim of the review is to stress some specific features of the clinical picture in children, to discuss the role of auxiliary examinations at the onset of the disease including sleep studies, tests for human leukocyte antigens (HLAs), and cerebrospinal fluid hypocretin (Hcrt) measurement, and to draw attention to the most common cases of pediatric misdiagnosis. Frequent cataplectic attacks at an early age should lead to detailed clinical, neuroimaging and genetic examinations to rule out a secondary etiology. Beside the typical symptoms (excessive daytime sleepiness, cataplexy, sleep paralysis, hypnagogic/hypnopompic hallucinations), some additional features including obesity and nocturnal bulimia can appear. Also poor school performance and emotional disorder are common complaints. Treatment should start as early as possible to avoid the development of problems with progress at school, and close cooperation between school and family should be maintained.
- MeSH
- diferenciální diagnóza MeSH
- dítě MeSH
- katalepsie komplikace diagnóza etiologie terapie MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- narkolepsie komplikace diagnóza etiologie terapie MeSH
- polysomnografie MeSH
- poruchy nadměrné spavosti diagnóza etiologie terapie MeSH
- předškolní dítě MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
The aim of this study is to evaluate the results of laser-assisted uvuloplasty (LAUP) in terms of effect on snoring and side effects. The case report study is based on the analysis of questionnaires with a visual analog scale (VAS) describing the severity of snoring before and 6-26 months after operation and questions regarding postoperative course. The group of patients consisted of 73 patients with primary rhonchopathy. The average preoperative VAS score was 8.36; it decreased to an average of 3.98 postoperatively (p = 0.001). No improvement was reported by 12% of patients, improvement of 4 and more of the VAS scale was reported by 67% of patients. The majority (58%) of patients reported postoperative pain for up to 10 days. Bothersome sensations persisted in 15% of patients. No predictive factors for the success of treatment were found. LAUP diminished snoring in 88% of patients. A major drawback was the postoperative pain. Further studies looking for predictive factors are needed.
- MeSH
- chrápání epidemiologie chirurgie MeSH
- dospělí MeSH
- index tělesné hmotnosti MeSH
- laserová terapie metody MeSH
- lidé středního věku MeSH
- lidé MeSH
- obstrukční spánková apnoe epidemiologie MeSH
- pooperační bolest epidemiologie MeSH
- pooperační komplikace * MeSH
- poruchy nadměrné spavosti diagnóza epidemiologie MeSH
- průzkumy a dotazníky MeSH
- senioři MeSH
- uvula palatina chirurgie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH