Diagnosis Of Narcolepsy Research Articles

Narcolepsy among first- and second-generation immigrants in Sweden: A study of the total population.

AimsTo study incident narcolepsy in first‐ and second‐generation immigrant groups using Swedish‐born individuals and native Swedes as referents.MethodsThe study population included all individuals registered and alive in Sweden at baseline. Narcolepsy was defined as having at least one registered diagnosis of narcolepsy in the Swedish National Patient Register. The incidence of narcolepsy in different immigrant groups was assessed by Cox regression, with hazard ratios (HRs) and 95% confidence intervals (CI). The models were stratified by sex and adjusted for age, geographical residence in Sweden, educational level, marital status, co‐morbidities, and neighbourhood socioeconomic status.ResultsIn the first‐generation study, 1225 narcolepsy cases were found; 465 males and 760 females, and in the second‐generation study, 1710 cases, 702 males and 1008 females. Fully adjusted HRs (95% CI) in the first‐generation study was for males 0.83 (0.61–1.13) and females 0.83 (0.64–1.07), and in the second‐generation study for males 0.76 (0.60–0.95) and females 0.91 (95% CI 0.76–1.09). Statistically significant excess risks of narcolepsy were found in first‐generation males from North America, and second‐generation males with parents from North America, and second‐generation females with parents from Latin America.ConclusionsThere were only significant differences in incident narcolepsy between native Swedes and second‐generation male immigrants. The observed differences can partly be explained by differences in Pandemrix® vaccinations and are probably not attributable to genetic differences between immigrants and natives.

Idling for Decades: A European Study on Risk Factors Associated with the Delay Before a Narcolepsy Diagnosis.

PurposeNarcolepsy type-1 (NT1) is a rare chronic neurological sleep disorder with excessive daytime sleepiness (EDS) as usual first and cataplexy as pathognomonic symptom. Shortening the NT1 diagnostic delay is the key to reduce disease burden and related low quality of life. Here we investigated the changes of diagnostic delay over the diagnostic years (1990–2018) and the factors associated with the delay in Europe.Patients and MethodsWe analyzed 580 NT1 patients (male: 325, female: 255) from 12 European countries using the European Narcolepsy Network database. We combined machine learning and linear mixed-effect regression to identify factors associated with the delay.ResultsThe mean age at EDS onset and diagnosis of our patients was 20.9±11.8 (mean ± standard deviation) and 30.5±14.9 years old, respectively. Their mean and median diagnostic delay was 9.7±11.5 and 5.3 (interquartile range: 1.7−13.2 years) years, respectively. We did not find significant differences in the diagnostic delay over years in either the whole dataset or in individual countries, although the delay showed significant differences in various countries. The number of patients with short (≤2-year) and long (≥13-year) diagnostic delay equally increased over decades, suggesting that subgroups of NT1 patients with variable disease progression may co-exist. Younger age at cataplexy onset, longer interval between EDS and cataplexy onsets, lower cataplexy frequency, shorter duration of irresistible daytime sleep, lower daytime REM sleep propensity, and being female are associated with longer diagnostic delay.ConclusionOur findings contrast the results of previous studies reporting shorter delay over time which is confounded by calendar year, because they characterized the changes in diagnostic delay over the symptom onset year. Our study indicates that new strategies such as increasing media attention/awareness and developing new biomarkers are needed to better detect EDS, cataplexy, and changes of nocturnal sleep in narcolepsy, in order to shorten the diagnostic interval.

Impact of L-carnitine in narcolepsy treatment: a systematic review on the effectiveness and safety.

IntroductionStudies have shown that narcolepsy patients may present with low serum acylcarnitine levels, demonstrating a dysfunctional beta fatty acid oxidation pathway in these patients.ObjectiveEvaluate the therapeutic efficacy of L-carnitine as a treatment for narcolepsy patients.MethodsThis study runned in form of systematic review. The terms used for the search: (“narcolepsy”[MeSH Terms] OR “narcolepsy”[All Fields]) AND (“carnitine”[MeSH Terms] OR “carnitine”[All Fields] OR “l carnitine”[All Fields]). Were included all surveys published until January 2021, with the diagnosis of narcolepsy, that performed drug treatment with I-carnitine. The clinical endpoints of interest were: excessive daytime sleepiness, dissociative REM sleep manifestations: cataplexy, sleep paralysis, hypnagogic hallucinations, and early REM sleep (REM sleep naps, SOREMP).ResultsL-carnitine was found to be well-tolerated and without side effects in all surveys, at dosages ranging from 500 to 510 mg/day. Newborns did not present complications during delivery.ConclusionThis study corroborates the efficacy and good tolerability of L-carnitine therapy as a treatment for patients with narcolepsy, including during pregnancy.

A case of residual sleepiness after treatment with oral appliance and a diagnosis of narcolepsy

A case of residual sleepiness after treatment with oral appliance and a diagnosis of narcolepsy

Neuroanatomical and Etiological Approaches to Secondary Narcolepsy

Narcolepsy is one among the disorders of central hypersomnolence characterized by excessive daytime sleepiness not related to disturbances in nocturnal sleep or misalignment in circadian rhythms. The cardinal symptom of this group of disorders is disabling daytime sleepiness, characterized by the repeated episodes of irresistible daytime sleepiness or lapses into sleep in monotonous situations, but also under unusual conditions such as eating. Narcolepsy is defined as type 1 and type 2 on the basis of the presence of cataplexy. The most pathognomonic feature of narcolepsy type 1 is cataplexy, which is characterized by sudden episodes of brief loss of muscle tone-sparing consciousness, usually triggered by strong emotions. Other nonspecific symptoms associated with rapid eye movement sleep dissociation include fragmentation of nocturnal sleep, hypnagogic or hypnopompic hallucinations, and sleep paralysis. The pathophysiology of narcolepsy type 1 is well established as the deficiency of hypocretin (orexin) signaling in the lateral hypothalamus. In narcolepsy type 2, on the other hand, hypocretin levels are not decreased, and it has been suggested that there is probably a partial deficiency in hypocretin signaling system to cause excessive daytime sleepiness but not severe enough to cause cataplexy. Instead of types 1 and 2, primary (idiopathic) narcolepsy, familial narcolepsy, secondary (symptomatic) narcolepsy, and narcolepsy plus (hereditary forms with additional neurological symptoms) forms were suggested to better classify the clinical entities. In this paper, the diagnosis of symptomatic or secondary narcolepsy is reviewed and classified based on the underlying pathophysiologic mechanisms.

Finnish children who experienced narcolepsy after receiving the Pandemrix vaccine during the 2009-2010 H1N1 pandemic demonstrated high level of psychosocial problems.

We assessed psychosocial burdens in children who developed narcolepsy after receiving the Pandemrix H1N1 vaccine during the 2009-2010 pandemic. Parental quality of life was also assessed. This multicentre study covered four of the five Finnish University Hospital Districts, which dealt with about 90% of the paediatric narcolepsy cases after the Pandemrix vaccination. The medical records of children diagnosed from 2010 to 2014 were reviewed. The questionnaires included the Youth Self-Report (YSR), Children's Depression Inventory (CDI), the Child Behaviour Checklist (CBCL) and questions on parental resources, stress and quality of life. We obtained the medical records of 94 children who were aged 5-17years at the time of their narcolepsy diagnosis and questionnaire data for 73 of those children. Most children had strong narcolepsy symptoms, and 25% had CDI scores that suggested depression. In addition, 41% had total CBCL problem scores above the clinically significant limit and 48% were anxious, withdrawn and had somatic complaints. Sleep latency was weakly associated with the CBCL total problem score. Half of the children needed psychiatric interventions and parental stress was common. Depression and behavioural problems were common in children with narcolepsy after the Pandemrix vaccination and their parents frequently reported feeling stressed.

Current Understanding of Narcolepsy1 and its Comorbidities: What Clinicians Need to Know.

Narcolepsy is a chronic neurologic disorder associated with the dysregulation of the sleep–wake cycle that often leads to a decreased quality of life and results in a considerable health burden. There is often a delay to diagnosis of narcolepsy, mainly due to the lack of recognition of this disorder. One of the main factors hindering the diagnosis of narcolepsy is the association of comorbidities, which include other sleep disorders, psychiatric disorders, cardiovascular disorders, and metabolic disorders. The signs and symptoms of these comorbidities often overlap with those of narcolepsy, and some of the medications used for their treatment may obscure the symptoms of narcolepsy, leading to a delay in diagnosis. This review is targeted to clinicians unaccustomed to working with sleep disorders and aims to increase recognition and improve the management of narcolepsy.

Narcolepsy treatment in Sweden: An observational study.

To describe the pharmacological treatments (2005-2017) and the healthcare utilization (1997-2016) for patients with narcolepsy in Sweden in order to create a framework for future organizational and economic analyses. Patients of all ages with a diagnosis of narcolepsy registered in the National Patient Registry in specialist care in Sweden were included and information on treatments for narcolepsy was retrieved from The Swedish Prescribed Drug Register. We collected 2508 patients with narcolepsy, 43,3% men and 56,7% women and 47,9% were prescribed modafenil, 33,8% metylphenidate and 26,2% amphetamine. In total, 3817 treatments were initiated. Patients treated with amphetamine had a higher mean age. More women than men used modafinil, methylphenidate, amphetamine and antidepressants. The narcolepsy population had more outpatient than inpatient healthcare. Patients treated with sodium oxybate had more outpatient visits than other narcolepsy patients, before and during treatment (p=.00). This study gives valuable information on pharmaceutical treatments and healthcare utilization for patients with narcolepsy and can be used to estimate the healthcare cost in the future. Patients with sodium oxybate treatment had more outpatient visits than other patients before and during treatment which may be due to the need to monitor potentially severe side-effects or may indicate that patients with sodium oxybate treatment have a severe disease. The number of included patients was less than expected; however, this may depend on patients escaping our collection of data, which does not contain information from primary care.

Epidemiology, Diagnostics, and Treatment of Narcolepsy in Germany: The DORMIO Study

Objectives: This study aimed to investigate the prevalence, incidence, and real-world diagnostic and treatment patterns, healthcare resource utilization (HCRU), and associated costs of narcolepsy in Germany. Methods: This study was based on German claims data (2013–2018). Any patient with at least two outpatient specialist diagnoses and/or one inpatient diagnosis of narcolepsy was eligible for inclusion. Three cohorts were specified: 1) narcolepsy-prevalent patients alive on July 1, 2017; 2) narcolepsy-incident patients; and 3) newly treated patients. Descriptive analyses of the outcome measures were conducted. Results: We identified 133 prevalent narcolepsy patients (mean age: 46.2 years, 36.3% female), 71 incident patients, and 41 treatment starters. The prevalence of narcolepsy was 3.1–9.1 per 100,000 persons within the German population; the cumulative incidence between July 1, 2017, and June 30, 2018, was 0.83/100,000 persons. Among the incident patients, 62.0% underwent at least one predefined diagnostic procedure. Modafinil was the most prescribed medication for the treatment starters (46.3%) and prevalent patients (24.1%), but 59.4% of the prevalent patients did not receive any narcolepsy-specific pharmacological treatment. Prevalent patients with narcolepsy consulted physicians significantly more often than a healthy matched control group and experienced more all-cause hospitalizations. The mean total direct healthcare costs were higher for narcolepsy patients by €2,429 per patient-year. Conclusions: Not all narcolepsy patients undergo appropriate diagnostic procedures or narcolepsy-specific medications, as indicated by the treatment guidelines. More emphasis on the optimization of the management of this disease is needed, given its high prevalence and associated economic burden.

Recognizing the Symptom Spectrum of Narcolepsy to Improve Timely Diagnosis: A Narrative Review.

Narcolepsy is a chronic sleep disorder with a strong negative impact on quality of life, especially when untreated. Diagnostic delay is a persistent problem, with obvious detrimental effects on patients. A diagnosis of narcolepsy may be delayed because of its broad symptom presentation which is much more encompassing than the classical “tetrad” of sleepiness, cataplexy, hallucinations, and sleep paralysis. Furthermore, symptoms can vary over time. Presentation of symptoms can also be markedly different between children and adults. Finally, common sleep-related comorbidities increase the risk of narcolepsy being masked by overlapping symptoms or treatment. In this review, we provide a detailed description of the broad and dynamic symptom spectrum of narcolepsy, with specific attention to the different manifestations in both adults and children. The overarching goal is to help not only sleep specialists, but general practitioners, pediatricians, and other caregivers with early recognition and prompt diagnosis of this severe but treatable disorder.

The Nexus Narcolepsy Registry: methodology, study population characteristics, and patterns and predictors of narcolepsy diagnosis

Objective/backgroundThe real-world experience of people with narcolepsy is not well understood. Patients/methodsThe Nexus Narcolepsy Registry (NCT02769780) is a longitudinal, web-based patient registry of self-reported data from adults with physician-diagnosed narcolepsy. Surveys were electronically distributed every 6 months; the current analysis reports registry population demographics, narcolepsy diagnosis journey, and predictors of diagnostic delays. ResultsThe registry population included in this analysis (N = 1024) was predominantly female (85%) and White (92%), with a mean age of 37.7 years. Most participants had education/training beyond high school (93%). Mean (median) reported ages at narcolepsy symptom onset, first consultation for symptoms, and narcolepsy diagnosis were 18.1 (16), 26.4 (24), and 30.1 (28) years, respectively. A majority (59%) of participants reported ≥1 misdiagnosis, and 29% reported consulting ≥5 physicians before narcolepsy diagnosis. More than half (56%) of participants’ first consultations for narcolepsy symptoms were with a general practitioner, whereas the diagnosing clinician was usually a sleep specialist (64%) or neurologist (27%). Pediatric symptom onset was associated with a longer mean interval to first consultation than adult symptom onset (10.7 and 4.6 years, respectively; P < 0.001) and a longer mean interval between first consultation and diagnosis (4.5 and 2.2 years, respectively; P < 0.001). Overall, mean (95% CI) time from symptom onset to diagnosis was 11.8 (11.1–12.5) years. ConclusionsThe Nexus Narcolepsy Registry data indicate that onset of narcolepsy symptoms frequently occurs in childhood or adolescence. In many individuals, the diagnostic process is long and involves multiple physicians and frequent misdiagnosis.

Narcolepsy: A clinical review.

Narcolepsy continues to be a significantly underdiagnosed/misdiagnosed condition worldwide. According to the National Institutes of Health (NIH), an estimated 135,000 to 200,000 patients in the United States are living with narcolepsy. However, due to the number of patients who either do not seek medical advice for their symptoms or receive an incorrect initial diagnosis at onset, this number may be higher. This article reviews the different subtypes of narcolepsy along with the pathophysiology, screening guidelines, clinical features, diagnosis, and management of the disorder. Educational awareness from a healthcare and patient standpoint can enhance early detection and accurate diagnosis of narcolepsy and improve patient quality of life.

831 Diagnostic and Treatment Challenges in a Child with Type 1 Narcolepsy

Abstract Introduction The diagnosis and management of Narcolepsy can be challenging in young children. We present a case of abrupt onset severe type 1 narcolepsy complicated by tactile hallucinations with stimulant medication therapy. Report of case(s) A previously healthy 7-year-old African American female presented to us at the beginning of the current pandemic with one week of excessive daytime sleepiness (EDS) with associated enuresis, hyperphagia and two episodes of cataplexy. She also presented with hypnagogic hallucinations and dream enactment behaviors. She was extremely sleepy with a score of 24/24 on the Epworth Sleepiness Scale. Her neurological exam was negative except for facial twitching appearing to be cataplectic facies. Extensive work up including urine toxicology, serology and cerebrospinal fluid (CSF) tests were undertaken to rule out infectious and demyelinating conditions; the results of these tests were negative. Brain magnetic resonance imaging as well as electroencephalogram testing were unremarkable. Overnight polysomnography demonstrated short sleep latency and rapid eye movement (REM) sleep without atonia and a multiple sleep latency test showed a mean sleep latency of less than 2 minutes and 4/4 sleep onset REM periods, highly suggestive of narcolepsy. Her HLA DQB1*0602 haplotype was positive but CSF Hypocretin testing was not done. She was given a diagnosis of Narcolepsy type I and started treatment on low dose Methylphenidate and Venlafaxine to address her EDS and cataplexy, respectively. Her EDS was gradually controlled with a higher dose of Methylphenidate but she developed severe tactile hallucinations. She complained of feeling bugs crawling under her skin and could not keep her clothes on due to constant discomfort. The tactile hallucinations improved with discontinuation of methylphenidate but reappeared with introduction of a different class of stimulants. Modafinil was ineffective in controlling her EDS symptoms. Her EDS, cataplexy and enuresis were better controlled after starting her on Sodium Oxybate. She continues to suffer from moderate to severe EDS with optimally dosed Sodium Oxybate with suboptimal response to various typical and atypical stimulants. Conclusion This case illustrates the difficulties in diagnosing and treating pediatric narcolepsy patients and a unique challenge of tactile hallucinations with stimulant medications. Support (if any):

503 Cardio-Vascular Burden of Narcolepsy Disease (CV-BOND): a Real-World Evidence Study

Abstract Introduction Narcolepsy is a rare, lifelong disorder that requires long-term treatment and is associated with multiple comorbidities, including cardiovascular conditions. Many available treatments have cardiovascular-related warnings and precautions in their labels. The objective of this study was to estimate the incidence of cardiovascular comorbidities in adult patients with a narcolepsy diagnosis in the US. Methods Claims from IBM® MarketScan®, an administrative claims database, between January 2014 and June 2019 were analyzed. Eligible patients were ≥18 years and had continuous medical and prescription coverage (gaps &amp;lt;30 days allowed). The narcolepsy cohort was defined by ≥2 outpatient claims containing a diagnosis of narcolepsy type 1 or type 2 on separate days and no more than 6 months apart, with ≥1 non-diagnostic office-visit. Non-narcolepsy patients were matched 3:1 to narcolepsy patients by calendar date of cohort entry, age, gender, US geographic region, and insurance type. Each incidence calculation required a 6 month wash-out period prior to cohort entry. Differences between cohorts were evaluated using a Cox proportional hazard model adjusted for age, gender, region, insurance type, and relevant morbidities/comorbidities and medications in the baseline period. Results Of 54,239,110 adults in the database, 12,816 and 38,441 were included in the narcolepsy and matched non-narcolepsy cohort. Approximately 67% were female patients and mean age was approximately 38 years in both cohorts. Incidence rates (per 1,000 person-years) for newly recorded cardiovascular comorbidities or events in narcolepsy/non-narcolepsy were: CVD without hypertension (13.29/7.99), MACE+ (11.75/6.86), heart failure (5.72/3.41), stroke (4.28/2.17), ischemic stroke (3.69/1.91), edema (9.84/4.22), and a composite of stroke, atrial fibrillation, and edema (17.73/8.88). Conclusion Physicians should consider the increased cardiovascular risk when considering risk modification strategies and treatment options for narcolepsy patients. Further research is needed to understand treatment-specific risks. Support (if any) Jazz Pharmaceuticals

506 Samelisant: Baseline Characteristics from a Phase 2 Study Evaluating Efficacy and Safety in Patients with Narcolepsy

Abstract Introduction histamine H3 receptor (H3R) antagonists/ inverse agonists increase histaminergic neurotransmission and offer a therapeutic option for the treatment of narcolepsy. Samelisant (SUVN-G3031) is a potent and selective H3R inverse agonist exhibited selectivity over 70 other targets. Samelisant showed wake-promoting and anticataplectic effects in orexin knockout mice suggesting its potential therapeutic utility in the treatment of EDS and cataplexy associated with narcolepsy. Safety and tolerability studies in animals and healthy humans suggested a favorable risk/benefit profile. Methods The current study is a 2 week treatment, multicenter, double-blind, placebo controlled, parallel-group study in patients with Narcolepsy with or without Cataplexy. Eligibility criteria include age between 18 to 50 years old, an ESS score of ≥ 12; and mean MWT time of &amp;lt; 12 minutes and a confirm diagnosis of narcolepsy as per ICSD-3. Further, the randomization will be stratified according to type of narcolepsy (Type-1 or Type-2). Each subject will receive either placebo or study drug once daily for 2 weeks in a fixed ratio of 1:1:1. The primary efficacy endpoint is change in maintenance of wakefulness test (MWT) score from baseline to week 2. Key secondary endpoints include change from baseline to week 2 in ESS and an improvement in CGI-S scores. Safety will be monitored by medical monitor and by an independent data safety monitoring committee. Baseline clinical and demographic data for the currently enrolled study is summarized descriptively. Since the study is blinded, a breakdown of baseline characteristics by treatment group will not be available until after completion. Results As of data cutoff date of Dec 20, 2020, a total of 54 subjects were completed in the study. The median age of subjects was 30 years (range: 18 - 50 years) with mean BMI of 28.6 (range: 18.3 - 43.1 kg/m2). Overall, 74% of subjects were female and 83% were Caucasian. Mean (SD) baseline values of MWT and ESS are 5.65 (3.5) and 16.7 (2.5), respectively. Conclusion Baseline characteristics are consistent with the general narcolepsy population. The study is currently enrolling the subjects with Narcolepsy with or without Cataplexy, and the Data readout is expected in the second half of 2021. Support (if any):

826 Central Sleep Apnea associated with Sodium Oxybate– A Case Series

Abstract Introduction Sodium oxybate (SO) is indicated to treat cataplexy and excessive daytime sleepiness (EDS) in patients with narcolepsy. Only a handful of cases have been reported of new-onset Central Sleep Apnea (CSA) in the setting of SO use. We present 3 patients who developed CSA in the setting of use of SO. Report of case(s) Patient 1: A 25-y/o man presented with hypersomnolence. His diagnostic polysomnogram (PSG) showed moderate Obstructive Sleep Apnea (OSA), and he was placed on Continuous Positive Airway Pressure (CPAP) therapy. Due to persistent hypersomnia in the setting of effectively treated OSA, he had a Multiple Sleep Latency Test (MSLT), which revealed pathological sleepiness with a mean latency of 3.8 minutes with a sleep-onset REM on the overnight polysomnogram. SO was started for clinical diagnosis of Narcolepsy after he failed other stimulant medications. Hypersomnolence improved though data from his PAP device, home sleep studies, re-titration studies performed when he was on SO demonstrated CSA following 1st or 2nd dose of SO. Patient 2: A 17-y/o man was diagnosed to have Narcolepsy with Cataplexy, based on PSG followed by MSLT. 20 years later, he was diagnosed with OSA based on a PSG and was treated with CPAP. A few years later, he was started on SO for fragmented sleep and EDS. A home sleep study performed when he was on SO, revealed CSA. Later, an in-lab titration study showed CSA with Cheyne-Stokes respiration (CSR), treated with Adaptive Servo-Ventilation (ASV) therapy. Patient 3: A 15-y/o man initially presented after several cataplectic episodes and was diagnosed with Narcolepsy with Cataplexy. His initial PSG showed no evidence of sleep-disordered breathing. A few years later, for persistent cataplectic events, he was started on SO with improvement in the episodes’ frequency. Several years later, a baseline PSG demonstrated OSA and CSA, with frequent CSA events soon after taking SO. The CPAP titration study, performed following the PSG, also revealed frequent CSA following the second dose of SO. Conclusion Close monitoring is warranted with SO use, given some narcolepsy patients’ predisposition to develop CSA. Follow-up studies are needed to address the pathogenesis and management strategies. Support (if any) None

498 It Makes Relationships Harder: The Role of Narcolepsy in Social and Romantic Relationships in Young Adults

Abstract Introduction Narcolepsy typically begins during adolescence/young adulthood – a crucial period for developing relationships. As symptoms would be expected to impact social interactions, we studied how narcolepsy impacts social, romantic, and sexual relationships in young adults. Methods Young adults (18–39 years; N=262) with a self-confirmed narcolepsy diagnosis were recruited through national narcolepsy patient organizations. Participants completed an online survey, including open-ended questions, to evaluate their social, romantic, and sexual relationships and communication with medical providers. Results Participants (mean=28.5 years old; SD=5.6) were primarily female (87%), White/Caucasian (92%), employed (75%), and had Narcolepsy Type I (56%). All participants indicated that narcolepsy made social life or entering relationships somewhat or a lot more difficult. Rates of cohabitation and marriage were comparable to nationally representative samples. On the Couples Satisfaction Index, most participants reported feeling satisfied with their romantic relationships (mean=15.8; SD=4.3). On the Multidimensional Scale of Perceived Social Support, participants reported receiving greater support from their significant others (mean=4.5; SD=1.4) compared to both family (mean=3.7; SD=1.5; p&amp;lt;.05) and friends (mean=3.9; SD=1.4; p&amp;lt;.05). There was no difference between family and friends (p&amp;gt;.05). Eighty-percent of participants indicated that narcolepsy impacted their sex life, including experiencing cataplexy or falling asleep during sex. Few participants indicated that their providers asked about their social (31%) and sex life (10%). In contrast, 73% of participants wanted providers to ask about social life and 45% wanted providers to ask about sex life. Conclusion Narcolepsy substantially impacts social functioning in young adults. They often prioritize the development of a single, meaningful romantic relationship as their disorder makes sustaining more social relationships challenging (“I do not go out and socialize at all, but spend all my time at home nurturing my romantic relationship because it’s the most important to me”). At a time of sexual development, there are considerable implications of narcolepsy symptoms on their sexual experiences. Though many participants were interested in discussing their social, romantic, and sexual relationships with medical providers, only a small proportion of providers inquire. Effective treatment of narcolepsy in young adults should include support for the impact of the disorder on relationship health. Support (if any) Jazz Pharmaceuticals.

Morbidity, Mortality, and Conversion to Neurodegenerative Diseases in Patients with REM Sleep Behavior Disorder and REM Sleep without Atonia

Introduction: The underlying pathophysiology of idiopathic REM sleep behavior disorder (iRBD) is not fully understood, although the condition is currently recognized as an early-stage alpha-synuclein disorder. We evaluated the morbidity, mortality, and rate of conversion to a neurodegenerative disorder in a national group of patients. Methods: All patients in Denmark with a diagnosis of RBD between 2006 and 2013 were identified from the Danish National Patient Registry (NPR) records. We excluded patients who had received a diagnosis of narcolepsy or any of the following neurodegenerative diseases before their diagnosis of RBD: Parkinson’s disease, multiple system atrophy, progressive supranuclear paralysis, Alzheimer’s, and Lewy body dementia. We used randomly chosen controls matched for age, gender, and municipality. Results: In total, 246 iRBD patients and 982 matched controls were analyzed. The mortality rate was the same in both groups. The morbidity rate was significantly higher in the years before and after an RBD diagnosis, due to a wide variety of disorders in the following major disease groups: mental/behavioral disorders; endocrine/metabolic diseases; diseases of the eye; diseases of the nervous, digestive, musculoskeletal, circulatory, and respiratory systems; abnormal findings not classified elsewhere; external causes; and factors influencing health status. The conversion rate from RBD to a neurodegenerative disease was 13% over the 8 years after a diagnosis of RBD. Conclusions: A diagnosis of RBD is associated with increased morbidity several years before and after a diagnosis is made. Patients have a higher risk of converting to a neurodegenerative disorder than matched controls. Mortality rates are unchanged.

2018 worldwide survey of health-care providers caring for patients with narcolepsy: WSS narcolepsy task force

BackgroundThere 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. MethodsA total of 146 surveys that included items on the diagnosis and management of narcolepsy were completed by practitioners representing 37 countries. ResultsMost 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. ConclusionThe 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.

Diagnosing narcolepsy in the active duty military population.

Narcolepsy type I and type II are central hypersomnias characterized by excessive daytime sleepiness and nocturnal sleep disruptions. These rare disorders make the diagnosis complex, as multiple sleep disorders are known to cause false-positive results on testing. There is a high incidence of sleep disorders in the military, and the diagnosis of narcolepsy can have serious career implications. This study looked to assess for the presence of confounding disorders in patients previously diagnosed with narcolepsy. We conducted a retrospective analysis of patients aged 18-65 previously diagnosed with narcolepsy at an outside facility, referred for repeat evaluation at the Wilford Hall Sleep Disorders Center. Previous test results from the time of original diagnosis were reviewed if available and compared with repeat evaluation which included actigraphy, in-laboratory polysomnography, and multiple sleep latency testing. Of the 23 patients, 2 (9%) retained a diagnosis of narcolepsy after repeat testing. Ten patients (43%) had insufficient sleep syndrome, five (22%) had significant circadian rhythm sleep-wake disorders, and nine (39%) patients were diagnosed with mild obstructive sleep apnea (OSA). Four of the nine patients with OSA (44%) had supine predominant OSA. Diagnostic testing for narcolepsy may be influenced by the presence of comorbid sleep disorders including sleep-disordered breathing, insufficient sleep duration, and circadian misalignment which are common in active military personnel. This study emphasizes the importance of excluding these comorbid diagnoses in this population.