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Narcolepsy is a primary disorder of the central nervous system resulting from genetic, environmental, and immunological interactions defined as excessive daytime sleepiness plus cataplexy, hallucinations, sleep paralysis, and sleep fragmentation. The pathophysiology is not entirely known, but the interaction among genetic predisposition, environmental exposition, and immune component with consequent hypocretin-1 deficiency is the model to explain narcolepsy type I. The mechanism of narcolepsy type II is less understood. There is a delay of over ten years for the diagnosis of narcolepsy around the world. Patients with narcolepsy have many comorbidities with a negative impact on quality of life. The treatment of narcolepsy must contain an educational approach for the family, coworkers, and patients. Scheduled naps and sleep hygiene are essential to minimize the dose of medications. Much progress has been seen in the pharmacological treatment of narcolepsy with new stimulants, different presentations of oxybate, and recent studies with orexin agonists. Narcolepsy is a rare disease that needs to be more understood and highlighted to avoid delayed diagnosis and severe disabilities in patients.

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Resumo A narcolepsia, distúrbio neurológico crônico caracterizado pela sonolência diurna excessiva, pode ser associada à cataplexia, fragmentação do sono, alucinações relacionadas ao sono e paralisia do sono. Frequentemente, é confundida com outros transtornos, como Transtorno do Déficit de Atenção com Hiperatividade (TDAH), epilepsia e até esquizofrenia, assim, por vezes, é diagnosticada inadequadamente. Objetiva-se relatar o diagnóstico diferencial bem-sucedido da narcolepsia na infância e suas dificuldades, realizado por uma equipe multidisciplinar, enfocando a atuação da psicologia do sono em avaliação e intervenção. Um menino de 10 anos foi recebido no Ambulatório de Narcolepsia e Apneia do Sono Infantil (AMBNAP), alocado no Hospital Universitário Onofre Lopes da Universidade Federal do Rio Grande do Norte (UFRN) com queixas de sonolência diurna excessiva, sono fragmentado e episódios de perda de tônus muscular. Foi submetido a entrevistas psiquiátrica e psicológica pormenorizadas, a exames, aplicação de escalas específicas para rastreio e diagnóstico de transtornos de sono e diário de sono, solicitação de recursos de mídia e de relatório escolar e avaliação neurológica. A partir da investigação multidisciplinar, o diagnóstico foi de Narcolepsia e Síndrome da Apneia Obstrutiva do Sono (SAOS). O paciente foi submetido a técnicas da Terapia Cognitivo-Comportamental (TCC) e segue em acompanhamento, apresentando resultados satisfatórios. Este estudo evidencia que uma equipe multidisciplinar especializada na área de sono atuando em conjunto com a Psicologia do Sono oportuniza o diagnóstico e intervenções precoces eficazes para o tratamento do distúrbio do sono na infância.

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Narcolepsy is an infrequent neurological disorder, included in the catalog of rare diseases. Despite the existence of precise diagnostic criteria, this entity remains underdiagnosed. It is characterized by excessive daytime sleepiness associated with cataplexy; in some cases, hypnagogic or hypnopompic hallucinations, auditory hallucinations, and/or delusional ideation may appear. The occurrence of psychotic symptoms makes differential diagnosis extremely difficult (narcolepsy, schizophrenia, or both). Furthermore, therapeutic management may be complex, since the treatment of one of the disorders may worsen the other. Here we describe the case of a patient with this rare comorbidity, which illustrates the major difficulties associated to both differential diagnosis and therapeutic management once a definitive diagnosis has been reached. [ABSTRACT FROM AUTHOR]

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Copyright of Médicas UIS is the property of Universidad Industrial de Santander and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

A narcolepsia é uma doença subestimada, e o tempo para o seu diagnóstico é de cerca de 10 anos. O objetivo do presente trabalho é trazer, para os médicos – particularmente os psiquiatras – e para todos os profissionais da área da saúde, a necessária conscientização acerca da importância de se levar em conta a narcolepsia em seus pacientes na prática clínica diária. O impacto negativo da narcolepsia na qualidade de vida é significativo e comparável àquele da epilepsia ou da esquizofrenia. O diagnóstico se caracteriza pela presença de cinco sintomas cardiais: sonolência excessiva diurna; cataplexia; paralisia do sono; alucinações; e fragmentação do sono noturno. O teste de latências múltiplas do sono, após uma polissonografia basal, se presta para confirmar o diagnóstico. A associação com transtornos depressivos, bipolares e ansiosos é muito prevalente em pacientes com narcolepsia. O tratamento desses pacientes se dá com estimulantes e doses baixas de antidepressivos. Interessantemente, a retirada abrupta de antidepressivos pode gerar uma síndrome transitória assemelhada à cataplexia. Outro achado comum em pacientes com narcolepsia é o transtorno comportamental do sono REM após o uso de antidepressivos. O emprego de psicoestimulantes, usados na narcolepsia para controle da sonolência excessiva diurna, pode acompanhar-se de uma psicose paranoide, assemelhada à esquizofrenia. O diagnóstico, o tratamento e o manejo da narcolepsia associada com comorbidades representam um desafio a ser valorizado.

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Las imágenes médicas han representado un importante avance en el estudio de las enfermedades del sistema nervio cerebral. Sin embargo existe un importante grupo de enfermedades que se caracterizan por la ausencia o una muy leve alteración de la estructura cerebral que son muy difíciles de detectar utilizando imágenes convencionales, como las enfermedades psiquiátricas, algunos tipos de epilepsia y las alteraciones del sueño. Las alteraciones de la estructura se pueden estudiar más detalladamente utilizando imágenes de resonancia magnética volumétricas que permiten la cuantificación del volumen de las distintas estructuras cerebrales. Es posible estudiar el cerebro desde el punto de vista metabólico mediante espectroscopia, que cuantifica diversos metabolitos cerebrales normales y anormales. Las técnicas de resonancia magnética funcional corresponden a pruebas similares a los test clínicos pero realizados al interior del resonador que permiten una evaluación de las áreas funcionales cerebrales. El PET-CT que utiliza principalmente glucosa radiactiva (18 FDG) para visualizar el metabolismo cerebral. Este artículo revisa los principales hallazgos demostrados mediante imágenes estructurales y funcionales en los pacientes con Síndrome de Apnea Obstructiva del Sueño (SAOS), Narcolepsia e Insomnio idiopático.

OBJECTIVE: This pioneering study aimed to evaluate executive attention and working memory in Brazilian narcoleptic outpatients. METHODS: Narcoleptic group: 19 treated narcoleptic outpatients (13 F; 6 M) (mean age=37.58; SD = 8.93); control group: 19 subjects (15 F; 4 M) (mean age=34.42; SD=12.31). INSTRUMENTS: Epworth Sleepiness Scale - Brazilian Portuguese Version (ESS-BR), Victoria Stroop Test (VST), Trail Making Test (TMT) and Letter-Number Sequencing (LNS) of WAIS-III. RESULTS: Significant difference at Excessive Daytime Sleepiness (EDS) (p

This study was thought to characterized clinical and laboratory findings of a narcoleptic patients in an out patients unit at São Paulo, Brazil. METHOD: 28 patients underwent polysomnographic recordings (PSG) and Multiple Sleep Latency Test (MSLT) were analyzed according to standard criteria. The analysis of HLADQB1*0602 allele was performed by PCR. The Hypocretin-1 in cerebral spinal fluid (CSF) was measured using radioimmunoassay. Patients were divided in two groups according Hypocretin-1 level: Normal (N) - Hypocretin-1 higher than 110pg/ml and Lower (L) Hypocretin-1 lower than 110 pg/ml. RESULTS: Only 4 patients of the N group had cataplexy when compared with 14 members of the L group (p=0.0002). DISCUSSION: This results were comparable with other authors, confirming the utility of using specific biomarkers (HLA-DQB1*0602 allele and Hypocretin-1 CSF level) in narcolepsy with cataplexy. However, the HLADQB1*0602 allele and Hypocretin-1 level are insufficient to diagnose of narcolepsy without cataplexy.Este estudo foi idealizado para avaliar as características clinicas e laboratoriais de uma população de narcolépticos atendidos num centro de referência na cidade de São Paulo (Brasil). MÉTODO: 28 pacientes realizaram polissonografia e teste de múltiplas latências do sono segundo critérios internacionais. O alelo HLADQB1*0602 foi identificado por PCR. A Hipocretina-1 no líquido cefalorradiano (LCR) foi mensurada por radioimunoensaio. Os pacientes foram divididos em 2 grupos conforme o nível de Hipocretina-1. Normal (N) - Hypocretin-1 >110pg/ml e baixa (B) - Hypocretina-1

Este artigo relata as conclusões da reunião de consenso com médicos especialistas sobre diagnóstico de narcolepsia baseada na revisão dos artigos sobre narcolepsia listados no Medline entre 1980 e 2010. A narcolepsia é uma doença crônica de início entre a primeira e segunda décadas de vida do indivíduo. Os sintomas essenciais são cataplexia e sonolência excessiva. A cataplexia é definida como episódios súbitos, recorrentes e reversíveis de fraqueza da musculatura esquelética desencadeados por situações de conteúdo emocional. Os sintomas acessórios são alucinações hipnagógicas, paralisia do sono e sono fragmentado. Critérios de diagnóstico clínico de acordo com a Classificação Internacional dos Transtornos do Sono são de sonolência excessiva e cataplexia. Recomenda-se a realização de polissonografia seguida do teste de latência múltipla do sono em um laboratório de sono para confirmação e diagnóstico de comorbidades. Quando não houver cataplexia, deve haver duas ou mais sonecas com sono REM no teste de latência múltipla do sono. Tipagem HLA-DQB1*0602 positiva com níveis de hipocretina-1 abaixo de 110pg/mL devem estar presentes para o diagnóstico de narcolepsia sem cataplexia e sem sonecas com sono REM.This manuscript contains the conclusion of the consensus meeting on the diagnosis of narcolepsy based on the review of Medline publications between 1980-2010. Narcolepsy is a chronic disorder with age at onset between the first and second decade of life. Essential narcolepsy symptoms are cataplexy and excessive sleepiness. Cataplexy is defined as sudden, recurrent and reversible attacks of muscle weakness triggered by emotions. Accessory narcolepsy symptoms are hypnagogic hallucinations, sleep paralysis and nocturnal fragmented sleep. The clinical diagnosis according to the International Classification of Sleep Disorders is the presence of excessive sleepiness and cataplexy. A full in-lab polysomnography followed by a multiple sleep latency test is recommended for the confirmation of the diagnosis and co-morbidities. The presence of two sleep-onset REM period naps in the multiple sleep latency test is diagnostic for cataplexy-free narcolepsy. A positive HLA-DQB1*0602 with lower than 110pg/mL level of hypocretin-1 in the cerebrospinal fluid is required for the final diagnosis of cataplexy- and sleep-onset REM period -free narcolepsy.

Este artigo relata as conclusões da reunião de consenso da Associação Brasileira de Sono com médicos especialistas brasileiros sobre o tratamento da narcolepsia, baseado na revisão dos artigos sobre narcolepsia publicados entre 1980 e 2010. Os objetivos do consenso são valorizar o uso de agentes avaliados em estudos randomizados placebo-controlados, emitir recomendações de consenso para o uso de outras medicações e informar pontos importantes a respeito da segurança e efeitos adversos das medicações. O tratamento da narcolepsia é baseado em diversas classes de agentes, estimulantes para sonolência excessiva, agentes antidepressivos para cataplexia e hipnóticos para sono noturno fragmentado. Medidas comportamentais são igualmente importantes e recomendadas universalmente. Todos os ensaios clínicos terapêuticos foram classificados de acordo com o nível de qualidade da evidência. Recomendações terapêuticas individualizadas para cada tipo de sintoma e recomendações gerais foram formuladas pelos autores. Modafinila é indicada como a primeira escolha para o tratamento da sonolência diurna. Agentes de segunda escolha para o tratamento da sonolência excessiva são metilfenidato de liberação lenta seguido pelo mazindol. Reboxetina, clomipramina, venlafaxina, desvenlafaxina e os inibidores seletivos de recaptação de serotonina em doses altas são a primeira escolha para o tratamento da cataplexia. Hipnóticos são utilizados para o tratamento do sono noturno fragmentado. Antidepressivos e hipnóticos são igualmente utilizados para o tratamento das alucinações hipnagógicas e paralisia do sono.This manuscript contains the conclusion of the consensus meeting of the Brazilian Sleep Association with Brazilian sleep specialists on the treatment of narcolepsy based on the review of medical literature from 1980 to 2010. The manuscript objectives were to reinforce the use of agents evaluated in randomized placebo-controlled trials and to issue consensus opinions on the use of other available medications as well as to inform about safety and adverse effects of these medications. Management of narcolepsy relies on several classes of drugs, namely, stimulants for excessive sleepiness, antidepressants for cataplexy and hypnotics for disturbed nocturnal sleep. Behavioral measures are likewise valuable and universally recommended. All therapeutic trials were analyzed according to their class of evidence. Recommendations concerning the treatment of each single symptom of narcolepsy as well as general recommendations were made. Modafinil is the first-line pharmacological treatment of excessive sleepiness. Second-line choices for the treatment of excessive sleepiness are slow-release metylphenidate followed by mazindol. The first-line treatments of cataplexy are the antidepressants, reboxetine, clomipramine, venlafaxine, desvenlafaxine or high doses of selective serotonin reuptake inibitors antidepressants. As for disturbed nocturnal sleep the best option is still hypnotics. Antidepressants and hypnotics are used to treat hypnagogic hallucinations and sleep paralysis.

Las orexinas o hipocretinas son neuropéptidos recientemente descritos (1998), encontrados en mayor densidad en neuronas de las regiones lateral, posterior y perifornical del hipotálamo, las cuales se han visto implicadas en procesos de modulación de la ingesta alimenticia y del ciclo sueño-vigilia. El sistema orexinérgico tiene amplias proyecciones a todo lo largo y ancho del SNC especialmente a centros monoaminérgicos, tales como el locus coeruleus, núcleo tuberomamilar, núcleos del rafé y el área tegmental ventral. Inicialmente se pensó en un papel fundamental de las orexinas en la regulación de la función alimenticia, sin embargo estudios recientes han implicado a estos neuropéptidos en la regulación del ciclo sueño-vigilia. Estos hallazgos permiten conocer mejor una región como el hipotálamo, al igual que brinda un mejor entendimiento de la patogenia y fisiopatología relacionadas con los trastornos de la alimentación y el sueño. Este artículo pretende presentar una revisión lo más completa posible de lo que se conoce hasta ahora de estos neuromoduladores y su papel en relación con los trastornos del sueño, especialmente su implicación en la narcolepsia.

OBJECTIVE: Narcolepsy (with and without cataplexy) and idiopathic hypersomnia, are disorders with common features but with different HLA-DQB1*0602 allele prevalence. The present study describes the prevalence of HLA-DQB1*0602 allele in narcoleptics with and without cataplexy and in patients with idiopathic hypersomnia. METHOD: Subjects comprised 68 patients who were diagnosed for narcolepsy or idiopathic hypersomnia and 23 healthy controls according to the International Classification of Sleep Disorders-2. Subjects comprised 43 patients with narcolepsy and cataplexy, 11 patients with narcolepsy but without cataplexy, 14 patients with idiopathic hypersomnia and 23 healthy controls. Genotyping of HLA-DQB1*0602 allele was performed for all subjects. RESULTS: The prevalence of the HLA-DQB1*0602 allele was increased in idiopathic hypersomnia and in narcoleptic patients with and without cataplexy when compared to healthy subjects (p = 0.04; p = 0.03 and p < 0.0001, respectively). CONCLUSIONS: This finding is in accordance with those of previous studies. The gold standard exam of narcolepsy with cataplexy is Hypocretin-1 dosage, but in patients without cataplexy and idiopathic hypersomnia, there are no specific diagnostic lab findings. The presence of the HLA-DQB1* 0602 allele may be important for the differential diagnosis of situations that resemble those sleep disorders such as secondary changes in sleep structure due to drugs' consumption.OBJETIVO: Narcolepsia (com e sem cataplexia) e hipersonolência idiopática são transtornos com características clínicas comuns, mas com prevalências do alelo HLA-DQB1*0602 diferentes. Este estudo descreve a prevalência do alelo HLA-DQB1*0602 em pacientes narcolépticos com e sem cataplexia e em pacientes com hipersonolência idiopática. MÉTODO: A amostra consistiu de 68 pacientes com diagnóstico de narcolepsia ou hipersonolência idiopática e 23 controles saudáveis segundo o International Classification of Sleep Disorders-2. A amostra foi composta de 43 pacientes com narcolepsia e cataplexia, 11 pacientes com narcolepsia e sem cataplexia, 14 pacientes com hipersonolência idiopática e 23 controles saudáveis. A análise da presença do alelo HLA-DQ*0602 foi realizada em todos os sujeitos. RESULTADOS: A prevalência do alelo HLA-DQB1*0602 foi maior nos grupos de pacientes com hipersonolência idiopática e em pacientes narcolépticos com e sem cataplexia quando comparada com a dos sujeitos saudáveis (p = 0,04; p = 0,03 e p < 0,0001, respectivamente). CONCLUSÕES: Os resultados são compatíveis com o de estudos anteriores. O exame padrão-ouro para a confirmação da narcolepsia em pacientes com cataplexia é a dosagem de hipocretina, mas em pacientes sem cataplexia e hipersonolência idiopática não há testes laboratoriais específicos para o diagnóstico. A presença do alelo HLA-DQB1*0602 pode ser importante no diagnóstico diferencial de situações semelhantes a esses distúrbios do sono, como alterações secundárias na estrutura do sono causadas por consumo de drogas.

OBJECTIVE: To evaluate the perception of Quality of Life (QL) in Brazilian patients with narcolepsy. METHOD: 40 adult patients aged between 20 and 72 years (mean=41.55; SD=14.50); (28 F; 12M), with the diagnosis of chronic narcolepsy were followed up at the outpatient clinic (Patient Group). The Control Group was composed of 40 adults. The instrument utilized was the World Health Organization Quality of Life (WHOQOL-BREF). RESULTS: The two groups were homogeneous and no difference was found with regards to age, sex, and demographic characteristics. The perception of QL in physical, psychological and social domains showed lower scores in those patients with narcolepsy than in the control group (pOBJETIVO: Avaliar a percepção de qualidade de vida (QV) em pacientes com narcolepsia. MÉTODO: 40 pacientes com idades de 20 a 72 anos (média 41,55; desvio padrão=14,50); (28 F; 12 M), com diagnóstico de narcolepsia, crônica, seguidos em ambulatório (Grupo Paciente). O Grupo Controle foi composto de 40 adultos. O instrumento utilizado foi o Instrumento de Qualidade de Vida da Organização Mundial de Saúde (WHOQOL-BREF). RESULTADOS: Os dois grupos foram homogêneos e não foram encontradas diferenças de idade, sexo e características demográficas. A percepção da QV nos domínios físico, psicológico e social mostrou escores menores nos pacientes com narcolepsia do que no Grupo Controle (p

Narcolepsy is characterized by excessive daytime sleep and cataplexy. Little is known about the possible difference in pathophysiology between patients with or without cataplexy. OBJECTIVE: To quantify T CD4, T CD8 and B lymphocytes in subgroups of patients with narcolepsy and the presence or absence of the HLA-DQB1*0602 allele between groups. METHOD: Our study was prospective and controlled (transversal) with 22 narcoleptic patients and 23 health control subjects. Patients underwent an all-night polysomnographic recording (PSG) and a multiple sleep latency Test (MSLT). The histocompatibility antigen allele (HLA-DQB1*0602), T CD4, CD8 and B lymphocytes were quantified in control subjects and in narcoleptics. RESULTS: The HLA-DQB1*0602 allele was identified in 10 (62.5%) of our 16 cataplexic subjects and in 2 (33.3%) of the 6 patients without cataplexy (p=0.24). In control subjects, HLA-DQB1*0602 allele was identified in 5 (20%). A significant decrease in T CD4 and B lymphocytes was found in narcoleptic patients with recurrent cataplexy when compared with our patients without cataplexy. CONCLUSION: Autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis were associated with a decrease in sub-group of T CD4 and B lymphocytes. A drop in B lymphocytes count in reumathoid arthritis might, it is posited, be correlated to the presence of HLA-DRB1 allele along with an overall worsened outcome of the affliction. The theory of an increase in consumption of B lymphocytes over the maturation phase has likewise been put forward. Our study reinforces the view that narcolepsy should be considered from an immunological perspective.A narcolepsia é caracterizada por sonolência excessiva diurna e cataplexia. Pouco se sabe sobre as diferenças fisiopatológicas entre pacientes com e sem cataplexia. OBJETIVO: Quantificar os linfócitos T CD4, T CD8 e B e a presença do alelo HLA-DQB1*0602 nos subgrupos de pacientes com narcolepsia. MÉTODO: O estudo foi prospectivo e controlado (transversal) com 22 pacientes portadores de narcolepsia e 23 sujeitos controle. Os pacientes realizaram polissonografia (PSG) de noite inteira e teste de múltiplas latências do sono (TMLS). O alelo do antígeno de histocompatibilidade (HLA-DQB1*0602) e os linfócitos T CD4, T CD8 e B foram quantificados nos pacientes e sujeitos controle. RESULTADOS: O alelo HLA-DQB1*0602 foi encontrado em 10 (62,5%) dos 16 pacientes com cataplexia e em 2 (33,3%) dos 6 pacientes sem cataplexia (p=0,24). Nos sujeitos controle, o alelo HLA-DQB1*0602 foi encontrado em 5 sujeitos (20%). Um aumento significativo de linfócitos T CD4 e uma diminuição de linfócitos B foi observado no grupo de pacientes com cataplexia freqüente quando comparado ao grupo de pacientes sem cataplexia. CONCLUSÃO: Doenças auto-imunes como lupus eritematoso sistêmico e artrite reumatóide têm sido associadas com diminuição de linfócitos T CD4 e B. Na artrite reumatóide, diminuição de linfócitos B e presença do alelo HLA-DRB1 tem sido associada a pior evolução. Para essa doença, a teoria de um maior consumo de linfócitos B em suas fases de maturação tem sido aventada. Os achados do nosso estudo reforçam a teoria imunológica da narcolepsia.

OBJECTIVE: To compare MSLT parameters in two groups of patients with daytime sleepiness, correlated to the occurrence and onset of dreams. METHOD: Patients were submitted to the MSLT between January/1999 and June/2002. Sleep onset latency, REM sleep latency and total sleep time were determined. The occurrence of dreams was inquired following each MSLT series. Patients were classified as narcoleptic (N) or non-narcoleptic (NN). RESULTS: Thirty patients were studied, 12 were classified as narcoleptics (N group; 40%), while the remaining 18 as non-narcoleptic (NN group; 60%). Thirty MSLT were performed, resulting in 146 series. Sleep was detected in 126 series (86%) and dreams in 56 series (44.44%). Mean sleep time in the N group was 16.0±6.3 min, while 10.5±7.5 min in the NN group (pOBJETIVO: Comparar variáveis do TLMS em dois grupos de pacientes hipersones e correlacionar presença e momento de ocorrência de sonhos. MÉTODO: Os pacientes foram submetidos a TLMS entre janeiro de 1999 e junho de 2002. Analisou-se a média das latências de sono, latências de sono REM e tempo total de sono. A presença de sonhos foi inquirida após cada série. Classificou-se os pacientes em narcolépticos (N) e não-narcolépticos (NN). RESULTADOS: Do total de 30 pacientes, 12 foram classificados no grupo N (40%) e 18 no NN (60%). Dos 30 TLMS foram obtidas 146 séries. Houve sono em126 (86%) e sonho em 56 (44,44%). O tempo médio de sono no grupo N foi 16,0±6,3min e no NN 10,5±7,5min (p

A sonolência é uma função biológica, definida como uma probabilidade aumentada para dormir. Já a sonolência excessiva (SE), ou hipersonia, refere-se a uma propensão aumentada ao sono com uma compulsão subjetiva para dormir, tirar cochilos involuntários e ataques de sono, quando o sono é inapropriado. As principais causas de sonolência excessiva são a privação crônica de sono (sono insuficiente), a Síndrome da Apnéia e Hipopnéia Obstrutiva do Sono (SAHOS), a narcolepsia, a Síndrome das Pernas Inquietas/Movimentos Periódicos de Membros (SPI/MPM), Distúrbios do Ritmo Circadiano, uso de drogas e medicações e a hipersonia idiopática. As principais conseqüências são prejuízo no desempenho nos estudos, no trabalho, nas relações familiares e sociais, alterações neuropsicológicas e cognitivas e risco aumentado de acidentes. O tratamento da sonolência excessiva deve estar voltado para as causas específicas. Na privação voluntária do sono, aumentar o tempo de sono e higiene do sono, o uso do CPAP (Continuous Positive Airway Pressure) na Síndrome da Apnéia e Hipopnéia Obstrutiva do Sono, exercícios e agentes dopaminérgicos na Síndrome das Pernas Inquietas/Movimentos Periódicos de Membros, fototerapia e melatonina nos Distúrbios do Ritmo Circadiano, retiradas de drogas que causam sonolência excessiva e uso de estimulantes da vigília.Sleepiness is a physiological function, and can be defined as increased propension to fall asleep. However, excessive sleepiness (ES) or hypersomnia refer to an abnormal increase in the probability to fall asleep, to take involuntary naps, or to have sleep atacks, when sleep is not desired. The main causes of excessive sleepiness is chronic sleep deprivation, sleep apnea syndrome, narcolepsy, movement disorders during sleep, circadian sleep disorders, use of drugs and medications, or idiopathic hypersomnia. Social, familial, work, and cognitive impairment are among the consequences of hypersomnia. Moreover, it has also been reported increased risk of accidents. The treatment of excessive sleepiness includes treating the primary cause, whenever identified. Sleep hygiene for sleep deprivation, positive pressure (CPAP) for sleep apnea, dopaminergic agents and exercises for sleep-related movement disorders, phototherapy and/or melatonin for circadian disorders, and use of stimulants are the treatment modalities of first choice.

Narcolepsy main symptoms include excessive daytime sleepiness and cataplexy. Its chronic course is accompanied by psychosocial impairment added to the difficulties and side effects of stimulants and tricyclics long term use. Depressive complaints are occasionally reported. The aim of this paper was to evaluate objectively the possibility of depression in a sample of 12 narcoleptics (7F;5 M), with mean age of 53 years (12 years SD), using the Beck Depression Inventory (BDI) and the Hamilton Rating Scale for Depression (HAM-D). The results showed absence of depressive disorder in 75.0% of the cases according to BDI (or 58.3% according to HAM-D). The remaining patients had mild depression (only one patient presented major depression). The findings showed no correlation between narcolepsy and major depression.Narcolepsia é um distúrbio do sono caracterizado por sonolência diurna excessiva e ataques de cataplexia. Sendo crônico, traz uma série de dificuldades psicossociais às quais se aliam aquelas geradas pelos efeitos colaterais dos estimulantes e tricíclicos utilizados. Queixas depressivas são encontradas ocasionalmente. Esta pesquisa buscou verificar objetivamente a ocorrência de depressão em narcolépticos. Foi avaliado um grupo de 12 pacientes narcolépticos (7F; 5M) com média de idade de 53 anos (DP 12) usando-se como instrumentos o Inventário de Beck para Depressão (BDI) e a Escala Hamilton de Depressão (HAM-D). Os resultados demonstraram ausência de distúrbio depressivo em 75.0% dos pacientes avaliados pelo BDI e em 58.3% pela HAM-D. Os demais escores evidenciaram depressão leve ou disforia; depressão maior foi encontrada em apenas um caso. Tais achados não sugerem correlação entre narcolepsia e depressão.

OBJETIVO: O objetivo deste artigo é revisar a literatura sobre a genética dos distúrbios do sono na infância e adolescência. FONTES DOS DADOS: As palavras-chave "sono" e "genética" foram usadas para pesquisar por artigos publicados nos últimos cinco anos no banco de dados MEDLINE. A seguir, seus resumos foram analisados. A pesquisa também incluiu artigos clássicos, com a primeira descrição dos genes. SÍNTESE DOS DADOS: A recorrência familiar de muitos distúrbios do sono é um achado freqüente, mas loci genéticos foram descobertos para poucos deles. Descrevemos aqui distúrbios do sono transmitidos por herança genética e também aqueles que apresentam altos índices de recorrência familiar, apesar de nenhum gene específico haver sido encontrado. CONCLUSÕES: Apesar da maioria dos distúrbios do sono ainda não terem uma base molecular identificada, técnicas modernas são cada vez mais utilizadas para determinar a contribuição dos genes ao sono e aos seus distúrbios associados. A importância clínica destas descobertas pode estar relacionada com a melhoria de métodos diagnósticos, mas também como alvo para o desenvolvimento de medicações específicas.OBJECTIVE: To review the literature regarding the genetics of sleep disorders in childhood and adolescence. SOURCES: Articles published in the past 5 years were searched on MEDLINE using the keywords sleep and genetics. Abstracts were then analyzed. Classical articles with the first description of genes were also included. SUMMARY OF THE FINDINGS: We often find familial recurrence in many sleep disorders. However, gene loci were discovered for only a few of them. We describe sleep disorders transmitted by genetic heritance and also those in that, although a gene was not found, familial recurrence is high. CONCLUSION: Although most of the sleep disorders do not have by now an identified molecular basis, modern techniques are being increasingly applied to determine the contribution of genes to sleep and its associated disorders. The clinical importance of these discoveries may relate not only to improving diagnostic methods but also as a target for drug development.

Copyright of Scientia Medica is the property of EDIPUCRS - Editora Universitaria da PUCRS and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Médica Clínica Las Condes is the property of Editorial Sanchez y Barcelo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

This manuscript contains the conclusion of the consensus meeting on the diagnosis of narcolepsy based on the review of Medline publications between 1980-2010. Narcolepsy is a chronic disorder with age at onset between the first and second decade of limb. Essential narcolepsy symptoms are cataplexy and excessive sleepiness. Cataplexy is defined as sudden, recurrent and reversible attacks of muscle weakness triggered by emotions. Accessory narcolepsy symptoms are hypnagogic hallucinations, sleep paralysis and nocturnal fragmented sleep. The clinical diagnosis according to the International Classification of Sleep Disorders is the presence of excessive sleepiness and cataplexy. A full in-lab polysomnography followed by a multiple sleep latency test is recommended for the confirmation of the diagnosis and co-morbidities. The presence of two sleep-onset REM period naps in the multiple sleep latency test is diagnostic for cataplexy-free narcolepsy. A positive HLA-DQB1*0602 with lower than 110pg/mL level of hypocretin-1 in the cerebrospinal fluid is required for the final diagnosis of cataplexy- and sleep-onset REM period -free narcolepsy. [ABSTRACT FROM AUTHOR]

This manuscript contains the conclusion of the consensus meeting of the Brazilian Sleep Association with Brazilian sleep specialists on the treatment of narcolepsy based on the review of medical literature from 1980 to 2010. The manuscript objectives were to reinforce the use of agents evaluated in randomized placebo-controlled trials and to issue consensus opinions on the use of other available medications as well as to inform about safety and adverse effects of these medications. Management of narcolepsy relies on several classes of drugs, namely, stimulants for excessive sleepiness, antidepressants for cataplexy and hypnotics for disturbed nocturnal sleep. Behavioral measures are likewise valuable and universally recommended. All therapeutic trials were analyzed according to their class of evidence. Recommendations concerning the treatment of each single symptom of narcolepsy as well as general recommendations were made. Modafinil is the first-line pharmacological treatment of excessive sleepiness. Second-line choices for the treatment of excessive sleepiness are slow-release metylphenidate followed by mazindol. The first-line treatments of cataplexy are the antidepressants, reboxetine, clomipramine, venlafaxine, desvenlafaxine or high doses of selective serotonin reuptake inibitors antidepressants. As for disturbed nocturnal sleep the best option is still hypnotics. Antidepressants and hypnotics are used to treat hypnagogic hallucinations and sleep paralysis. [ABSTRACT FROM AUTHOR]

Objective: Narcolepsy (with and without cataplexy) and idiopathic hypersomnia, are disorders with common features but with different HLA-DQB1*0602 allele prevalence. The present study describes the prevalence of HLA-DQB1*0602 allele in narcoleptics with and without cataplexy and in patients with idiopathic hypersomnia. Method: Subjects comprised 68 patients who were diagnosed for narcolepsy or idiopathic hypersomnia and 23 healthy controls according to the International Classification of Sleep Disorders-2. Subjects comprised 43 patients with narcolepsy and cataplexy, 11 patients with narcolepsy but without cataplexy, 14 patients with idiopathic hypersomnia and 23 healthy controls. Genotyping of HLA-DQB1*0602 allele was performed for all subjects. Results: The prevalence of the HLA-DQB1*0602 allele was increased in idiopathic hyparsomnia and in narcoleptic patients with and without cataplexy when compared to healthy subjects (p = 0.04; p = 0.03 and p < 0.0001, respectively). Conclusions: This finding is in accordance with those of previous studies. The gold standard exam of narcolepsy with cataplexy is Hypecretin-1 dosage, but in patients without cataplexy and idiopathic hypersomnia, there are no specific diagnostic lab findings. The presence of the HLA-DQB1* 0602 allele may be important for the differential diagnosis of situations that resemble those sleep disorders such as secondary changes in sleep structure due to drugs' consumption. [ABSTRACT FROM AUTHOR]

Purpose: This study reports the psychological assessment of 12 children referred to a narcolepsy clinic, using quantitative methods to describe intellectual and psychosocial functioning in childhood narcolepsy. Methods: The participants were six males and six females aged between 7-16 years (median age 10 years). The protocol included a clinical interview; the Wechsler Intelligence Scale for Children-III-UK; and the Parent version of the Achenbach Child Behaviour Checklist (CBCL). Results: Eleven children obtained an IQ in the average range (mean and median = 100). However, a significant difference was found between verbal and performance scales in 42% of children, compared to WISC-III normative prevalence rates of 24%. CBCL results revealed that 10/12 children scored in the clinically significant range on the Total Score Index, with 9/12 obtaining scores in the significant range on the Internalizing Index. The majority of children presented with difficulties in discussing and describing distressing physical and psychological symptoms with parents and others. Conclusions: These findings suggest that the psychosocial impact of narcolepsy extends beyond the effects of excessive sleepiness and that symptoms such as hallucinations can lead to significant psychological morbidity. [ABSTRACT FROM AUTHOR]

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

This review describes the complex and often reciprocal relationship between sleep problems, neurological disorders and/or intellectual disability in children. The causes of Intellectual disability (ID) discussed in this review include those conditions present from or around the time of birth, although it also considers traumatic brain injuries occurring later in development. This review discusses the patterns of sleep difficulty associated with specific disorders and summarizes the assessment and interventions, both behavioural and pharmacological, applicable to children. Many neurological disorders such as epilepsy, narcolepsy and neurorespiratory disorders vary considerably in terms of the degree of co-morbid problems and can present with a spectrum of effects on underlying cognitive or behavioural substrates including sleep function. These conditions are discussed as they provide useful insights into how disordered sleep can impact on cognitive development and behaviour. The review draws both on the literature in these areas and the extensive clinical experience of the authors. [ABSTRACT FROM AUTHOR]