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2.
Artigo em Russo | MEDLINE | ID: mdl-31626225

RESUMO

Based on own clinical experience in diagnostics and treatment of 4 patients, the authors describe main clinical presentations of narcolepsy. A case report of a 20-year female patient with psychogenic narcolepsy induced by a conflict in the family is described in details. According to polysomnography and Multiple Sleep Latency Test, a reduction in latency to sleep is 22 sec - 3 min 30 sec and the time of occurrence of REM sleep is 7 min 30 sec. The diagnosis is made on the basis of diagnostic criteria of narcolepsy. On average, it takes about 7-10 years to diagnose narcolepsy that reduces the quality of life of patients and leads to social and household maladaptation. Physicians should be wary of early identification of this disease for dynamic monitoring, the appointment of symptomatic therapy, prevention of anxiety and depression and the generation of behavior algorithm in the patient and his relatives in order to maximize social and household adaptation.


Assuntos
Narcolepsia , Polissonografia , Qualidade de Vida , Feminino , Humanos , Narcolepsia/diagnóstico , Narcolepsia/psicologia , Sono , Sono REM , Adulto Jovem
3.
Neurology ; 93(11): e1034-e1044, 2019 09 10.
Artigo em Inglês | MEDLINE | ID: mdl-31405906

RESUMO

OBJECTIVE: To validate polysomnographic markers (sleep latency and sleep-onset REM periods [SOREMPs] at the Multiple Sleep Latency Test [MSLT] and nocturnal polysomnography [PSG]) for pediatric narcolepsy type 1 (NT1) against CSF hypocretin-1 (hcrt-1) deficiency and presence of cataplexy, as no criteria are currently validated in children. METHODS: Clinical, neurophysiologic, and, when available, biological data (HLA-DQB1*06:02 positivity, CSF hcrt-1 levels) of 357 consecutive children below 18 years of age evaluated for suspected narcolepsy were collected. Best MSLT cutoffs were obtained by receiver operating characteristic (ROC) curve analysis by contrasting among patients with available CSF hcrt-1 assay (n = 228) with vs without CSF hcrt-1 deficiency, and further validated in patients without available CSF hcrt-1 against cataplexy (n = 129). RESULTS: Patients with CSF hcrt-1 deficiency were best recognized using a mean MSLT sleep latency ≤8.2 minutes (area under the ROC curve of 0.985), or by at least 2 SOREMPs at the MSLT (area under the ROC curve of 0.975), or the combined PSG + MSLT (area under the ROC curve of 0.977). Although specificity and sensitivity of reference MSLT sleep latency ≤8 minutes and ≥2 SOREMPs (nocturnal SOREMP included) was 100% and 94.87%, the combination of MSLT sleep latency and SOREMP counts did not improve diagnostic accuracy. Age or sex also did not significantly influence these results in our pediatric population. CONCLUSIONS: At least 2 SOREMPs or a mean sleep latency ≤8.2 minutes at the MSLT are valid and reliable markers for pediatric NT1 diagnosis, a result contrasting with adult NT1 criteria. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that for children with suspected narcolepsy, polysomnographic and MSLT markers accurately identify those with narcolepsy type 1.


Assuntos
Narcolepsia/diagnóstico , Narcolepsia/fisiopatologia , Polissonografia/normas , Latência do Sono/fisiologia , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Masculino
4.
Handb Clin Neurol ; 160: 393-403, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31277864

RESUMO

The measurement of daytime sleepiness is important in the evaluation of patients with excessive sleepiness. The multiple sleep latency test (MSLT) is an objective test that measures the tendency to fall asleep under controlled conditions. It is based on the notion that sleep latency reflects underlying physiological sleepiness. The MSLT consists of four to five naps given 2h apart during the day, following a standardized procedure. The mean sleep latency from all naps is used as the measure of sleepiness. The test has been shown to be valid and reliable and is part of the diagnostic criteria for narcolepsy and idiopathic hypersomnia. However, the MSLT is affected by numerous variables including insufficient sleep, drugs, activity, and arousal level. Adherence to the established protocol is necessary to limit the effect of these extraneous factors on the MSLT. While the test is a valuable and widely used diagnostic tool for narcolepsy and idiopathic hypersomnia, the use of MSLT in other sleep disorders is not well established.


Assuntos
Distúrbios do Sono por Sonolência Excessiva/diagnóstico , Distúrbios do Sono por Sonolência Excessiva/fisiopatologia , Polissonografia/métodos , Latência do Sono/fisiologia , Sonolência , Humanos , Narcolepsia/diagnóstico , Narcolepsia/fisiopatologia , Transtornos do Sono do Ritmo Circadiano/diagnóstico , Transtornos do Sono do Ritmo Circadiano/fisiopatologia
5.
Nat Rev Neurol ; 15(9): 519-539, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31324898

RESUMO

Narcolepsy is a rare brain disorder that reflects a selective loss or dysfunction of orexin (also known as hypocretin) neurons of the lateral hypothalamus. Narcolepsy type 1 (NT1) is characterized by excessive daytime sleepiness and cataplexy, accompanied by sleep-wake symptoms, such as hallucinations, sleep paralysis and disturbed sleep. Diagnosis is based on these clinical features and supported by biomarkers: evidence of rapid eye movement sleep periods soon after sleep onset; cerebrospinal fluid orexin deficiency; and positivity for HLA-DQB1*06:02. Symptomatic treatment with stimulant and anticataplectic drugs is usually efficacious. This Review focuses on our current understanding of how genetic, environmental and immune-related factors contribute to a prominent (but not isolated) orexin signalling deficiency in patients with NT1. Data supporting the view of NT1 as a hypothalamic disorder affecting not only sleep-wake but also motor, psychiatric, emotional, cognitive, metabolic and autonomic functions are presented, along with uncertainties concerning the 'narcoleptic borderland', including narcolepsy type 2 (NT2). The limitations of current diagnostic criteria for narcolepsy are discussed, and a possible new classification system incorporating the borderland conditions is presented. Finally, advances and obstacles in the symptomatic and causal treatment of narcolepsy are reviewed.


Assuntos
Encéfalo/fisiopatologia , Narcolepsia , Orexinas/fisiologia , Humanos , Hipotálamo/fisiopatologia , Narcolepsia/diagnóstico , Narcolepsia/etiologia , Narcolepsia/fisiopatologia , Narcolepsia/terapia
6.
J Neurol ; 266(9): 2137-2143, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31127382

RESUMO

Previous studies reported high sensitivity and specificity of the Swiss Narcolepsy Scale (SNS) for the diagnosis of narcolepsy type 1. We used data from the Bern Sleep-Wake Database to investigate the discriminating capacity of both the SNS and the Epworth Sleepiness Scale (ESS) to identify narcolepsy type 1 and type 2 in patients with central disorders of hypersomnolence (CDH) or sleepy patients with obstructive sleep apnea (OSA). In addition, we aimed to develop a simplified version of the SNS. We created the two-item short-form SNS (sSNS), based on the discriminative capability of the models including all possible combinations of the five questions of the SNS. Using the previously published co-efficiencies, we confirmed the high capacity of the SNS in identifying narcolepsy type 1. The updated SNS (based on new co-efficiencies and cutoff) and the sSNS showed high capacity and were both superior to ESS in identifying narcolepsy type 1. The sSNS correlated significantly with the SNS (r = - 0.897, p < 0.001). No scale showed sufficient discrimination for narcolepsy type 2. This is the largest cohort study that confirms the discriminating power of SNS for narcolepsy type 1 in patients with hypersomnolence and the first study to assess its discriminative power for narcolepsy type 2. The easy-to-use and easy-to-calculate short-form scale has a high discriminating power for narcolepsy type 1 and may be used as screening tool, especially among general practitioners, to identify patients and accelerate their referral to a center of expertise.


Assuntos
Bases de Dados Factuais/normas , Distúrbios do Sono por Sonolência Excessiva/diagnóstico , Narcolepsia/diagnóstico , Sono/fisiologia , Inquéritos e Questionários/normas , Vigília/fisiologia , Adulto , Estudos de Coortes , Diagnóstico Diferencial , Distúrbios do Sono por Sonolência Excessiva/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Narcolepsia/epidemiologia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Suíça , Adulto Jovem
7.
J Neurol ; 266(7): 1809-1815, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31004212

RESUMO

The last two decades have seen an explosion in our understanding of the clinical nature of narcolepsy and its pathogenesis, fuelling new approaches to potentially effective treatments. It is now recognised that the full narcoleptic syndrome has significant adverse effects on sleep regulation across the full 24-h period and is often associated with clinical features outside the sleep-wake domain. The discovery that most narcoleptic subjects specifically lack a hypothalamic neuropeptide (hypocretin, also called orexin) was a truly original and landmark observation in 1999, greatly furthering our understanding both of the syndrome itself and sleep biology in general. An autoimmune pathophysiology has long been suggested by the tight association with specific histocompatibility antigens and very recently partly confirmed by detailed analysis of T-cell immunological function in affected subjects. Drug treatments remain symptomatic but may soon become more focussed by restoring central hypocretin signalling with replacement therapy. Potentially disease-modifying, immunological approaches have yet to be studied systematically, although the interval between disease onset and development of the full clinical syndrome may be longer than previously appreciated, affording a realistic window of opportunity for limiting neuronal damage in this disabling condition.


Assuntos
Encéfalo/imunologia , Narcolepsia/imunologia , Rede Nervosa/imunologia , Orexinas/imunologia , Encéfalo/metabolismo , Emoções/fisiologia , Humanos , Narcolepsia/diagnóstico , Narcolepsia/metabolismo , Rede Nervosa/metabolismo , Orexinas/metabolismo
8.
Neurology ; 92(15): e1754-e1762, 2019 04 09.
Artigo em Inglês | MEDLINE | ID: mdl-30867266

RESUMO

OBJECTIVE: To validate the Idiopathic Hypersomnia Severity Scale (IIHSS), a self-report measure of hypersomnolence symptoms, consequences, and responsiveness to treatment. METHODS: The 14-item IHSS (developed and validated by sleep experts with patients' feedback) was filled in by 218 participants (2.3% missing data). Among the 210 participants who fully completed the IHSS, there were 57 untreated and 43 treated patients with idiopathic hypersomnia (IH) aged 16 years or older, 37 untreated patients with narcolepsy type 1 (NT1), and 73 controls without sleepiness. IHSS psychometric properties, discriminant diagnostic validity, and score changes with treatment were assessed. RESULTS: The IHSS showed good internal consistency and content validity. Factor analysis indicated a 2-component solution with good reliability expressed by satisfactory Cronbach α values. IHSS scores were reproducible without changes in the test-retest evaluation (13 treated and 14 untreated patients). Convergent validity analysis showed that IHSS score was correlated with daytime sleepiness, depressive symptoms, and quality of life in patients with IH. The IHSS score was lower in treated than untreated patients (5-8 unit difference, without ceiling effect). The cutoff value for discriminating between untreated and treated patients was 26/50 (sensitivity 55.8%, specificity 78.9%). IHSS scores were higher in drug-free IH patients than NT1 and controls. The best cutoff value to differentiate between untreated IH patients and controls was 22 (sensitivity 91.1%, specificity 94.5%), and 29 with NT1. CONCLUSIONS: The IHSS is a reliable and valid clinical tool for the quantification of IH symptoms and consequences that might be useful for patient identification, follow-up, and management.


Assuntos
/terapia , Adolescente , Adulto , Feminino , Humanos , /psicologia , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Narcolepsia/diagnóstico , Narcolepsia/psicologia , Narcolepsia/terapia , Psicometria , Qualidade de Vida , Valores de Referência , Reprodutibilidade dos Testes , Autorrelato , Resultado do Tratamento , Adulto Jovem
9.
Anesth Analg ; 129(1): 204-211, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30882519

RESUMO

There is increasing awareness that sleep disorders may be associated with increased perioperative risk. The Society of Anesthesia and Sleep Medicine created the Narcolepsy Perioperative Task Force: (1) to investigate the current state of knowledge of the perioperative risk for patients with narcolepsy, (2) to determine the viability of developing perioperative guidelines for the management of patients with narcolepsy, and (3) to delineate future research goals and clinically relevant outcomes. The Narcolepsy Perioperative Task Force established that there is evidence for increased perioperative risk in patients with narcolepsy; however, this evidence is sparse and based on case reviews, case series, and retrospective reviews. Mechanistically, there are a number of potential mechanisms by which patients with narcolepsy could be at increased risk for perioperative complications. These include aggravation of the disease itself, dysautonomia, narcolepsy-related medications, anesthesia interactions, and withdrawal of narcolepsy-related medications. At this time, there is inadequate research to develop an expert consensus or guidelines for the perioperative management of patients with narcolepsy. The paucity of available literature highlights the critical need to determine if patients with narcolepsy are at an increased perioperative risk and to establish appropriate research protocols and clearly delineated patient-centered outcomes. There is a real need for collaborative research among sleep medicine specialists, surgeons, anesthesiologists, and perioperative providers. This future research will become the foundation for the development of guidelines, or at a minimum, a better understanding how to optimize the perioperative care of patients with narcolepsy.


Assuntos
Anestesiologia/normas , Pesquisa Biomédica/normas , Narcolepsia/complicações , Assistência Perioperatória/normas , Lacunas da Prática Profissional/normas , Sono , Estimulantes do Sistema Nervoso Central/administração & dosagem , Estimulantes do Sistema Nervoso Central/efeitos adversos , Esquema de Medicação , Humanos , Comunicação Interdisciplinar , Narcolepsia/diagnóstico , Narcolepsia/tratamento farmacológico , Narcolepsia/fisiopatologia , Equipe de Assistência ao Paciente , Assistência Perioperatória/efeitos adversos , Medição de Risco , Fatores de Risco , Sono/efeitos dos fármacos
12.
Sleep ; 42(3)2019 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-30476331

RESUMO

STUDY OBJECTIVES: To validate Ullanlinna Narcolepsy Scale (UNS) as a screening tool for narcolepsy in a clinical population and to compare it with Swiss Narcolepsy Scale (SNS) and Epworth Sleepiness Scale (ESS). METHODS: UNS questionnaires of 267 participants visiting Helsinki Sleep Clinic were analyzed. The diagnoses of the participants were narcolepsy type 1 (NT1, n = 89), narcolepsy type 2 (NT2, n = 10), other hypersomnias (n = 24), sleep apnea (n = 37), restless legs syndrome or periodic limb movement disorder (n = 56), and other sleep-related disorders (n = 51). In addition, ESS and SNS scores in a subset of sample (total N = 167) were analyzed and compared to UNS. RESULTS: Mean UNS score in NT1 was 22.0 (95% confidence interval [CI] = 20.4 to 23.6, range 9-43), which was significantly higher than in other disorders, including NT2 (mean 13.7, 95% CI = 10.3 to 17.1, range 7-21, p = .0013). Sensitivity and specificity of UNS in separating NT1 from other disorders were 83.5% and 84.1%, respectively. Positive and negative predictive values were 82.5% and 85.1%, respectively. Sensitivities of SNS and ESS in NT1 were 77.2% and 88.6%, and specificities 88.6% and 45.5%, respectively. There were no differences in receiver operating characteristic curves between UNS and SNS. UNS had moderate negative correlation with hypocretin-1 levels (rs = -.564, p < .001), and mean sleep latency in multiple sleep latency test (rs= -.608, p < .001). CONCLUSIONS: UNS has high specificity and sensitivity for NT1 in a sleep clinic setting. UNS scores below 9 strongly suggest against the diagnosis of narcolepsy.


Assuntos
Programas de Triagem Diagnóstica , Distúrbios do Sono por Sonolência Excessiva/diagnóstico , Narcolepsia/diagnóstico , Síndrome da Mioclonia Noturna/diagnóstico , Inquéritos e Questionários , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Orexinas/sangue , Polissonografia , Curva ROC , Sensibilidade e Especificidade , Sono/fisiologia , Latência do Sono/fisiologia , Adulto Jovem
13.
Neurol Sci ; 40(3): 447-456, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30539345

RESUMO

OBJECTIVE: Narcolepsy is a lifelong disease, manifesting with excessive daytime sleepiness and cataplexy, arising between childhood and young adulthood. The diagnosis is typically made after a long delay that burdens the disease severity. The aim of the project, promoted by the "Associazione Italiana Narcolettici e Ipersonni" is to develop Red Flags to detect symptoms for early referral, targeting non-sleep medicine specialists, general practitioners, and pediatricians. MATERIALS AND METHODS: A multidisciplinary panel, including patients, public institutions, and representatives of national scientific societies of specialties possibly involved in the diagnostic process of suspected narcolepsy, was convened. The project was accomplished in three phases. Phase 1: Sleep experts shaped clinical pictures of narcolepsy in pediatric and adult patients. On the basis of these pictures, Red Flags were drafted. Phase 2: Representatives of the scientific societies and patients filled in a form to identify barriers to the diagnosis of narcolepsy. Phase 3: The panel produced suggestions for the implementation of Red Flags. RESULTS: Red Flags were produced representing three clinical pictures of narcolepsy in pediatric patients ((1) usual sleep symptoms, (2) unusual sleep symptoms, (3) endocrinological signs) and two in adult patients ((1) usual sleep symptoms, (2) unusual sleep symptoms). Inadequate knowledge of symptoms at onset by medical doctors turned out to be the main reported barrier to diagnosis. CONCLUSIONS: This report will hopefully enhance knowledge and awareness of narcolepsy among non-specialists in sleep medicine in order to reduce the diagnostic delay that burdens patients in Italy. Similar initiatives could be promoted across Europe.


Assuntos
Comunicação Interdisciplinar , Narcolepsia/diagnóstico , Narcolepsia/epidemiologia , Encaminhamento e Consulta/normas , Adulto , Fatores Etários , Criança , Diagnóstico Tardio/estatística & dados numéricos , Diagnóstico Diferencial , Humanos , Itália , Narcolepsia/fisiopatologia , Médicos
14.
Am J Med ; 132(3): 292-299, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30292731

RESUMO

Sleep disorders are frequent and can have serious consequences on patients' health and quality of life. While some sleep disorders are more challenging to treat, most can be easily managed with adequate interventions. We review the main diagnostic features of 6 major sleep disorders (insomnia, circadian rhythm disorders, sleep-disordered breathing, hypersomnia/narcolepsy, parasomnias, and restless legs syndrome/periodic limb movement disorder) to aid medical practitioners in screening and treating sleep disorders as part of clinical practice.


Assuntos
Transtornos do Sono-Vigília/diagnóstico , Transtornos do Sono-Vigília/terapia , Depressores do Sistema Nervoso Central/uso terapêutico , Estimulantes do Sistema Nervoso Central/uso terapêutico , Transtornos Cronobiológicos/diagnóstico , Transtornos Cronobiológicos/terapia , Terapia Cognitivo-Comportamental , Pressão Positiva Contínua nas Vias Aéreas , Distúrbios do Sono por Sonolência Excessiva/diagnóstico , Distúrbios do Sono por Sonolência Excessiva/terapia , Humanos , Programas de Rastreamento , Melatonina/uso terapêutico , Narcolepsia/diagnóstico , Narcolepsia/terapia , Síndrome da Mioclonia Noturna/diagnóstico , Síndrome da Mioclonia Noturna/terapia , Parassonias/diagnóstico , Parassonias/terapia , Fototerapia , Polissonografia , Síndrome das Pernas Inquietas/diagnóstico , Síndrome das Pernas Inquietas/terapia , Medicamentos Indutores do Sono/uso terapêutico , Síndromes da Apneia do Sono/diagnóstico , Síndromes da Apneia do Sono/terapia , Distúrbios do Início e da Manutenção do Sono/diagnóstico , Distúrbios do Início e da Manutenção do Sono/terapia , Latência do Sono
15.
Sleep Breath ; 23(1): 303-309, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30187366

RESUMO

BACKGROUND: Narcolepsy is an uncommon neurological disorder characterised by irresistible spells of sleep associated with abnormal rapid eye movement (REM) sleep. The association between narcolepsy and human leukocyte antigen HLA- DQB1*06:02 has been established elsewhere but remains to be investigated among Saudi Arabian patients with narcolepsy. METHODS: A total of 29 Saudi patients with type I or type 2 narcolepsy comprising of 23 (79%) males and 6 (21%) females with a mean age of 17.2 ± 9.6 years were included in this study. Type 1 or type 2 narcolepsy was diagnosed by full polysomnography followed by a multiple sleep latency test in accordance with International Classifications of Sleep Disorders-3 criteria. HLA typing for DQB1 alleles was performed by polymerase chain reaction and hybridization with sequence-specific oligonucleotide probes. Differences in clinical and sleep parameters were compared by univariable analyses. HLA-DQB1*06:02 frequency was systematically compared with the published literature. RESULTS: Type 1 narcolepsy was diagnosed in 19/29 (65.5%) patients, whereas 10/29 (34.5%) patients had type 2 narcolepsy. DQB1*06:02 was present in 25/29 (86.2%) patients; 15/19 (78.9%) narcolepsy type 1 patients and 10/10 (100%) narcolepsy type 2 patients harboured the DQB1*06:02 allele. REM latency was significantly lower in DQB1*06:02-positive patients compared to DQB1*06:02-negative patients (17.6 ± 32.3 min vs. 106.0 ± 86.0 min; p = 0.025). Epworth Sleepiness Scale scores were significantly higher among type 1 than type 2 narcolepsy patients (19.7 ± 3.2 vs 15.3 ± 3.6; p = 0.02). CONCLUSIONS: DQB1*06:02 allele frequencies among Saudi patients with narcolepsy were consistent with previously published data.


Assuntos
Árabes/genética , Frequência do Gene/genética , Cadeias beta de HLA-DQ/genética , Narcolepsia/genética , Polissonografia , Adolescente , Adulto , Feminino , Predisposição Genética para Doença/genética , Humanos , Masculino , Narcolepsia/diagnóstico , Arábia Saudita , Adulto Jovem
16.
Clin Neurophysiol ; 130(3): 412-418, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30573423

RESUMO

OBJECTIVE: To compare cardiac sympathetic adrenergic nerve activity in patients with narcolepsy type 1 (NT1) and controls using 123I-MIBG myocardial scintigraphy, and to determine the clinical and neurophysiological variables associated with 123I-MIBG scintigraphy results in NT1. METHODS: Fifty-six NT1 patients and 91 controls without neurological diseases underwent a cardiac scintigraphy. MIBG uptake was quantified by delayed heart/mediastinum (H/M) ratio. Clinical, neurophysiological and biological determinants of a low H/M were assessed in NT1. RESULTS: MIBG uptake did not differ between NT1 and controls in crude and adjusted associations. Five patients had low MIBG uptake (<1.42, first decile of controls), often with advanced age, cardiovascular (CV) diseases, stimulants intake, and REM sleep behavior disorder. Patients with H/M <1.62 (lowest tertile) were older, with higher BMI, microarousal index and CV comorbidities. A three-fold increase of phasic/tonic REM sleep motor activities was found in those patients, confirmed in a subanalysis of 40 drug-free patients. No association was found with CSF hypocretin levels. CONCLUSION: A direct measure of the heart adrenergic nerve activity revealed no sympathetic denervation in NT1. SIGNIFICANCE: Our results indicate normal cardiac sympathetic innervation in NT1. However, few patients with low MIBG uptake also presented CV comorbidities and REM sleep motor deregulation, potentially at high CV risk, requiring a careful follow-up.


Assuntos
Neurônios Adrenérgicos/fisiologia , Coração/inervação , Narcolepsia/fisiopatologia , Sistema Nervoso Simpático/fisiopatologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Coração/diagnóstico por imagem , Coração/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Narcolepsia/diagnóstico , Polissonografia , Cintilografia , Índice de Gravidade de Doença , Adulto Jovem
17.
Behav Brain Funct ; 14(1): 19, 2018 Dec 26.
Artigo em Inglês | MEDLINE | ID: mdl-30587203

RESUMO

Narcolepsy is a chronic sleep disorder characterized by excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis. This disease affects significantly the overall patient functioning, interfering with social, work, and affective life. Some symptoms of narcolepsy depend on emotional stimuli; for instance, cataplectic attacks can be triggered by emotional inputs such as laughing, joking, a pleasant surprise, and also anger. Neurophysiological and neurochemical findings suggest the involvement of emotional brain circuits in the physiopathology of cataplexy, which seems to depending on the dysfunctional interplay between the hypothalamus and the amygdala associated with an alteration of hypocretin levels. Furthermore, behavioral studies suggest an impairment of emotions processing in narcolepsy-cataplexy (NC), like a probable coping strategy to avoid or reduce the frequency of cataplexy attacks. Consistently, NC patients seem to use coping strategies even during their sleep, avoiding unpleasant mental sleep activity through lucid dreaming. Interestingly, NC patients, even during sleep, have a different emotional experience than healthy subjects, with more vivid, bizarre, and frightening dreams. Notwithstanding this evidence, the relationship between emotion and narcolepsy is poorly investigated. This review aims to provide a synthesis of behavioral, neurophysiological, and neurochemical evidence to discuss the complex relationship between NC and emotional experience and to direct future research.


Assuntos
Emoções/fisiologia , Narcolepsia/fisiopatologia , Narcolepsia/psicologia , Cataplexia/diagnóstico , Cataplexia/fisiopatologia , Cataplexia/psicologia , Humanos , Narcolepsia/diagnóstico , Polissonografia/tendências , Sono REM/fisiologia
18.
Nat Commun ; 9(1): 5229, 2018 12 06.
Artigo em Inglês | MEDLINE | ID: mdl-30523329

RESUMO

Analysis of sleep for the diagnosis of sleep disorders such as Type-1 Narcolepsy (T1N) currently requires visual inspection of polysomnography records by trained scoring technicians. Here, we used neural networks in approximately 3,000 normal and abnormal sleep recordings to automate sleep stage scoring, producing a hypnodensity graph-a probability distribution conveying more information than classical hypnograms. Accuracy of sleep stage scoring was validated in 70 subjects assessed by six scorers. The best model performed better than any individual scorer (87% versus consensus). It also reliably scores sleep down to 5 s instead of 30 s scoring epochs. A T1N marker based on unusual sleep stage overlaps achieved a specificity of 96% and a sensitivity of 91%, validated in independent datasets. Addition of HLA-DQB1*06:02 typing increased specificity to 99%. Our method can reduce time spent in sleep clinics and automates T1N diagnosis. It also opens the possibility of diagnosing T1N using home sleep studies.


Assuntos
Algoritmos , Narcolepsia/fisiopatologia , Fases do Sono/fisiologia , Adolescente , Adulto , Idoso , Estudos de Coortes , Feminino , Cadeias beta de HLA-DQ/análise , Humanos , Masculino , Pessoa de Meia-Idade , Narcolepsia/diagnóstico , Narcolepsia/imunologia , Polissonografia , Sensibilidade e Especificidade , Fases do Sono/imunologia , Adulto Jovem
19.
Cleve Clin J Med ; 85(12): 959-969, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30526757

RESUMO

Narcolepsy is a chronic disorder of hypersomnia that can have a significant impact on quality of life and livelihood. However, with appropriate treatment, its symptoms are manageable, and a satisfying personal, social, and professional life can still be enjoyed. Greater awareness of the disorder promotes accurate and efficient diagnosis. With ongoing research into its underlying biology, better treatments for narcolepsy will inevitably become available.


Assuntos
Gerenciamento Clínico , Narcolepsia/diagnóstico , Narcolepsia/terapia , Humanos
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