OBJECTIVE: We characterized functional impact of narcolepsy on patients using a general health status measure, the Sickness Impact Profile (SIP). It has 136 items grouped into 12 categories and 2 dimensions.
METHODS: We ascertained patients with physician-diagnosed narcolepsy in King County, Washington using multiple overlapping methods over four years starting July 2001. We recruited 226 patients (mean age 48 years, 65% female) who underwent in-person interviews and completed: Epworth Sleepiness Scale (ESS), Ullanlinna Narcolepsy Scale (UNS), and SIP. Linear regression was used to assess correlations between measures.
RESULTS: Mean percent of total dysfunction was higher for psychosocial dimension (13.2) and independent categories (13.4) than physical dimension (5.0). Mean percent of total dysfunction in descending order for categories was: Sleep and Rest (23.6), Alertness Behavior (22.6), and Recreation and Pastimes (20.6). Ten items were endorsed by at least a third of all patients but only two of them concerned sleep. Unexpectedly, among the top ten items were, "My sexual activity is decreased," and "I forget a lot, for example, things that happened recently, where I put things, appointments." Percent of overall dysfunction on SIP (mean 10.3) was significantly correlated with ESS (r=0.36, p< 0.001) and UNS (r=0.47, p< 0.001). In this population-based sample, mean percent of total dysfunction on SIP in patients with narcolepsy (10.3) was higher than previously reported in the general population (3.6) and similar to that in other chronic disabling conditions.
DISCUSSION: The SIP correlated with ESS and UNS, and captured unique aspects of the impact of narcolepsy on patients.
Keywords: Narcolepsy, Cataplexy, HLA-DQB1*0602, Epidemiologic studies, Health status indicators Sickness Impact Profile
OBJECTIVES: Excessive daytime sleepiness (EDS) and sudden sleep onset (SOS) episodes are frequent in Parkinson׳s disease (PD). The objectives are to identify clinical characteristics and factors associated with EDS and SOS episodes.
METHODS: Clinical demographic data were recorded (N=100, mean age=65.0±10.4). EDS was identified by the Epworth Sleepiness Scale (ESS>10) and SOS episodes were registered. Disease severity was evaluated by the Unified Parkinson׳s Disease Rating Scale (UPDRS, I, II, and III), sleep disturbances by the Parkinson׳s Disease Sleep Scale (PDSS<100), depressive symptoms by the Beck Depression Inventory (BDI>10) and rapid eye movement (REM) sleep behavior disorder (RBD) by the REM sleep behavior scale. Levodopa equivalent dose was measured.
RESULTS: PD patients with EDS (67%) were predominately male (73.1%) and had worse disease severity (UPDRS II and III p= 0.005); SOS episodes (39%) were associated with disease duration, diabetes, sleep disturbances (PDSS Scale), disease severity (UPDRS I, II, III) and RBD symptoms (p<0.05). Stepwise regression analysis showed that EDS was independently associated with motor-symptoms severity (UPDRS III scale, p=0.003). SOS episodes were independently associated with disease duration (p=0.006) and sleep disturbances (PDSS scale, p=0.03): patients had more uncomfortable immobility at night, tremor on waking and snoring or difficult breathing.
DISCUSSION: EDS and or SOS episodes are frequent and manifest a differential pattern in PD. SOS episodes are associated with longer disease duration, diabetes, sleep disturbances and RBD symptoms indicating that these "sleep attacks" are of multifactorial origin and probably influenced by brain structural abnormalities.
Keywords: Parkinson's disease, Sleepiness, Sudden sleep onset, Sleep attacks, Diabetes
In 1998, a group of phenotypically distinct neurons were discovered in the postero-lateral hypothalamus which contained the neuropeptides hypocretin 1 and hypocretin 2 (also called orexin A and orexin B), which are excitatory neuromodulators. Hypocretinergic neurons project throughout the central nervous system and have been involved in the generation and maintenance of wakefulness. The sleep disorder narcolepsy, characterized by hypersomnia and cataplexy, is produced by degeneration of these neurons.
The hypocretinergic neurons are active during wakefulness in conjunction with the presence of motor activity that occurs during survival-related behaviors. These neurons decrease their firing rate during non-REM sleep; however there is still controversy upon the activity and role of these neurons during REM sleep. Hence, in the present report we conducted a critical review of the literature of the hypocretinergic system during REM sleep, and hypothesize a possible role of this system in the generation of REM sleep.
Keywords: Hypothalamus, Peptides, Paradoxical sleep, Narcolepsy, Cataplexy, MCH
Sleep medicine in general and psychology in particular have recently developed cognitive behavioral treatment for narcolepsy (CBT-N). Despite a growing interest in this topic, most studies since 2007 have reviewed CBT applications for other sleep disorders. Currently, 6 reviews have been published on narcolepsy, with an expert consensus being reached that CBT represented an important adjunctive treatment for the disease. The current paper reviews the need for CBT applications for narcolepsy by generalizing the application of multicomponent treatments and performing studies that extrapolate the results obtained from multicenter studies. Nineteen studies were found in which the need-for-treatment guidelines identified the use of CBT for narcolepsy. Three additional studies were identified that evaluated the effectiveness of cognitive behavioral measures and multicomponent treatments for which treatment protocols have been proposed.
Keywords: Cognitive behavioral treatment, Narcolepsy, Behavior modification, Clinical formulation, Non-pharmacological treatment
Moebius syndrome (MS) is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis. This syndrome might be associated with diurnal excessive sleepiness and muscular hypotony, mimetizing in this manner, narcolepsy. The diagnostic criteria for narcolepsy depend on the presence of REM sleep during the day. As with patients with MS we do not have ocular movements due to the VI nerve paralysis, the absence of horizontal ocular movements might make it difficult to confirm narcolepsy in these patients. The common clinical characteristics of these patients are due to a possible impairment of the same structures that are affected in the central nervous system. However, the mechanism by which it occurs remains to be fully understood. Further electrophysiological researches are necessary to better clarify the association of these two diseases. The objective of this dissertation is to describe and discuss a case of Moebius syndrome with diurnal excessive sleepiness as a differential diagnosis for narcolepsy.
Keywords: Moebius syndrome, Diurnal excessive sleepiness, Narcolepsy
Narcolepsy is a disease in which there is diurnal excessive sleepiness with sleep attacks and a prevalence in the general population of 1/4000 individuals. Classically, it is characterized by cataplexy, sleep paralysis, hypnagogic hallucinations and fragmented sleep. The use of modafinil in the treatment of narcolepsy is the first option of treatment for diurnal excessive sleepiness.
Although considered a safe drug for use in patients with narcolepsy, being utilized for more than 20 years, modafinil possesses a series of side effects, some of them still not fully researched or described.
Side effects such as headache, nausea, anxiety, insomnia, lumbago, diarrhea, dyspepsia, rhinitis and vertigo are the most frequent. However, the clinical follow-up of patients under treatment with modafinil must be intensive and the side effects ought to be noted and evaluated. The under-response to treatment or the unexpected side effects must always be directed to differential diagnostics.
The objective of this article is to describe an unexpected side effect of the use of modafinil in a patient with incorrect diagnosis of narcolepsy.
Keywords: Narcolepsy, Modafinil, Cataplexy, Sleep Obstructive Apnea Syndrome, Side effect
This is a series of cases describing the use of citalopram for the treatment of cataplexy in patients with narcolepsy. Cataplexy is the most specific symptom of narcolepsy, being characterized by a sudden and temporary loss of muscle tonus, triggered by episodes of emotion during vigil.
Some antidepressants, besides gamma-hydroxybutyrate, are used for the control of cataplexy. As gamma-hydroxybutyrate is not available in Brazil, local treatment is usually done by the use of antidepressants.
Citalopram is a selective inhibitor of serotonin reuptake, with reasonable price and with fewer side effects when compared with other drugs of the same type. In this study, we report a series of cases with patients with narcolepsy and cataplexy, treated with citalopram for the control of cataplexy.
Keywords: Citalopram, Narcolepsy, Cataplexy, Treatment
Narcolepsy, a chronic disorder of the sleep-wake cycle of multifactorial etiology, is characterized by excessive daytime sleepiness, often associated with cataplexy, hypnagogic/hypnopompic hallucinations and sleep paralysis. Both early clinical suspicion and therapeutic approach are essential for promotion of cognitive development and social integration of these children. The authors present a descriptive retrospective study of a series of eight children in whom symptoms first started between 6.8 and 10.5 years of age. Diagnostic delay ranged from 4 months to 2 years. One child had H1N1 flu vaccination eight months before the clinical onset. The first multiple sleep latency test was positive in 6 of 8 cases. All cases were treated with methylphenidate, and venlafaxine was associated in 4 of them. In one case the initial therapy was exclusively behavioral. In all cases, symptomatic improvement, better school performance and social integration were achieved after therapeutic adjustment.
Keywords: Narcolepsy, Sleepiness, Children, Casuistic
Narcolepsy with cataplexy is a rare sleep disorder with a neurological basis which has been recently linked to H1N1 vaccination either in children or adults. Cases from Europe, United States and Brasil were registered. Authors describe a case report of a 15 years old boy who developed narcolepsy with cataplexy after H1N1 vaccination in Havana. As far as it is concerned this is the first case reported from Cuba.
Keywords: Narcolepsy, hypersomnolence, cataplexy, H1N1 vaccination
INTRODUCTION: This paper describes narcolepsy with cataplexy in two monozygotic twin sisters.
OBJECTIVE: To clinically illustrate the involvement of neurological, genetic and immunologic systems in narcolepsy.
MATERIAL AND METHODS: We performed a restropective study of these patients that were followed in the sleep medicine ambulatory clinic of the Faculdade de Medicina de Ribeirao Preto.
RESULTS: These sisters are two of the few cases in the literature concordant for narcolepsy with catalepsy and without a "positive HLA" for narcolepsy. They had a typical clinical course of narcolepsy with cataplexy and attended all the neurophysiological diagnostic criteria for narcolepsy.
CONCLUSION: In addition to known possible genetical similarity, this report stresses the role of environmental or unknown genetical factors acting on a specific neuro-imuno-genetical background and resulting in narcolepsy.
Narcolepsy is a chronic neurological disease characterized by diurnal excessive sleepiness and catapleaxy. It affects 1 in every 2000 to 4000 individuals with personal, social and familiar significant repercussions. The treatment of narcolepsy is mainly based on the use of stimulants for the control of the diurnal excessive sleepiness, in conjunction with behavioral measures and sleep hygiene. Among the stimulants, modafinil has presently been the drug of choice for the treatment of the diurnal excessive sleepiness in patients with narcolepsy. In the worldwide experience, its use is better tolerated and the majority of its side effects is considered light or moderate. However, the clinical use in Brazil was initiated at the end of 2008, with little experience on the narcolepsy population of this country. In this context, the objective of this study was the evaluation of the use of modafinil, verifying the indication of use, causes for discontinuation, daily dosage, efficiency of the treatment in a patient sample of narcoleptics consulted in a specialized center in Brazil. In this study, modafinil was effective for the control of the symptoms related do narcolepsy in 66% of the studied patients. The side effects such as headache, parestesias and diarrhea were the main reasons for the discontinuation of treatment with modafinil. It is important to clinically follow up the patients for a long period to evaluate symptomatology, control of use, tolerability and re-evaluation of the more effective therapeutic dosage able to control narcolepsy. Due to its high cost and clinical benefits, this drug should be on the government's list of free drugs for the treatment of these patients.
Keywords: Modafinil, Narcolepsy, Treatment, Diurnal excessive sleepiness
Studies have pointed out that approximately 50-60% of narcolepsy patients may demonstrate higher prevalence of periodical leg movements. However, we highlight that the prevalence studies and the effects of periodical leg movements in patients with narcolepsy are limited and with conflicting results. The objective of this study was that of describing and discussing the prevalence of periodical leg movements in patients with narcolepsy in the outpatient facility of diurnal excessive sleepiness of the Federal University of São Paulo, Brazil.
We revised 59 files of patients with the clinical and electrophysiological diagnosis of narcolepsy according to the American Academy of Sleep Medicine.
Of these 59 cases of patients with narcolepsy, 12 (20.3%) demonstrated periodical leg movements. Thirty five patients (59.3%) had history of cataplexy and 38 patients (64.4%) had the presence of the allele HLA-DQB1*0602. There was a higher prevalence of periodical leg movements in patients with cataplexy (p< 0.0001) and in patients with the presence of the allele HIA-DQB1*0602 (p< 0.0001).
Our study characterized the higher prevalence of periodical leg movement in patients with narcolepsy, mainly in patients with cataplexy and with the presence of the allele HLA-DQB1*0602.
Keywords: Periodical leg movements during sleep, Narcolepsy, HLA-DQB1*0602 and cataplexy