Recent Updates on Narcolepsy and Hypersomnia / 신경정신의학

Narcolepsy is a chronic neurological sleep disorder caused by hypocretin neuron loss, resulting in excessive daytime sleepiness, disturbed nocturnal sleep, and intrusions of aspects of rapid eye movement sleep in wakefulness, such as cataplexy, sleep paralysis, and hypnopompic/hypnagogic hallucinations. Narcolepsy disrupts the maintenance and orderly occurrence of the wake and sleep stages. Cataplexy is a highly specific symptom of narcolepsy, but many other symptoms can be observed in a variety of sleep disorders. The diagnosis of narcolepsy type 1 requires a history of excessive daytime sleepiness and one of the following : 1) a low cerebrospinal fluid hypocretin-1 level or 2) cataplexy and a positive multiple sleep latency test result. The diagnosis of narcolepsy type 2 requires a history of excessive daytime sleepiness and a positive mean sleep-latency test result. The mean sleep-latency test must be preceded by nighttime polysomnography to exclude other sleep disorders and to document adequate sleep. The mean sleep-latency test result can be falsely positive in other sleep disorders, such as shift work, sleep apnea, or sleep deprivation, and it is influenced by age, sex, and puberty. Modafinil and armodafinil can reduce the excessive daytime sleepiness without many of the side effects associated with older stimulants. Although there is no cure for narcolepsy, the treatments are often effective and include both behavioral and pharmacologic approaches.

Research progress on the relationship between obstructive sleep apnea and arousals / 中国基层医药

Obstructive sleep apnea(OSA) refers to apnea and hypopnea caused by repeated obstruction of upper respiratory tract collapse during sleep, accompanied by snoring and irregular snoring, daytime sleepiness and repeated arousal.Studies have shown that arousal is associated with daytime sleepiness and other symptoms and some complications in OSA patients.Based on literature review, this paper reviews the current research on OSA and arousal.

Research progress on the relationship between obstructive sleep apnea and arousals / 中国基层医药

Obstructive sleep apnea ( OSA) refers to apnea and hypopnea caused by repeated obstruction of upper respiratory tract collapse during sleep ,accompanied by snoring and irregular snoring ,daytime sleepiness and repeated arousal.Studies have shown that arousal is associated with daytime sleepiness and other symptoms and some complications in OSA patients.Based on literature review,this paper reviews the current research on OSA and arousal.

Effect of Endonasal Dilator on Nasal Airflow and Sleep Test Index on Sleep Apnea Patients

BACKGROUND AND OBJECTIVES: We aimed to evaluate effects of endonasal dilators (END) on sleep quality in patients with obstructive sleep apnea (OSA) by improving nasal airflow. MATERIALS AND METHODS: In 13 patients with OSA, changes of total nasal volume (TNV) and minimal cross-sectional area (MCA) before and after END use were evaluated. The change in peak nasal inspiratory flow (PNIF) was also measured. Subjects completed Epworth Sleepiness Scale questionnaire before and 2 weeks after END use. Finally, changes in apnea-hypopnea index (AHI), respiratory distress index (RDI), oxygen desaturation index (ODI), sleep time, sleep position and loudness of snoring (in decibels) were obtained by repetitive portable polysomnography. RESULTS: After END use, TNV (11.4±3.1 cm3 to 19.4±5.7 cm3) and MCA (0.7±0.2 cm2 to 0.9±0.1 cm2) increased significantly (p=0.001). PNIF also increased significantly after END (147.3±39.5 to 194.6±57.6 liter/min, p=0.001). Among 11 patients undergoing 2-week follow-up, 7 reported improvement in daytime sleepiness. Although AHI, RDI and ODI showed no statistically significant change before and after END (p>0.05), the proportion of subjects sleeping in the supine position increased from 38.0 to 44.5%. CONCLUSION: END may be an effective adjunctive tool for patients with OSA with the potential to improve nasal airflow and daytime sleepiness.

Episodios Ictales: Descripción de un Caso Clínico / Ictal events: a case report

Caso clínico de una paciente de once años que debuta con episodios de pérdida de tono y luego hipersomnolencia. Consulta en reiteradas ocasiones con el diagnóstico de epilepsia, con estudios electroencefalográficos y resonancia magnética cerebral, normales. Tratada durante un año con ac. valproico. Posteriormente se indica realización de Polisomnograma y Test de latencias múltiples de Sueño, confirmándose diagnóstico de narcolepsia y un trastorno del ánimo. Se inicia tratamiento con psicoestimulantes y antidepresivos. Evoluciona, con una mejoría de su cataplejía, hipersomnia y aspecto anímico. Se analiza caso, como diagnóstico diferencial de niños con episodios de pérdida de tono muscular e hipersomnolencia diurna, con conservación de conciencia y además se discute el manejo y las comorbilidades asociadas.Palabras claves: Episodios ictales, hipersomnolencia, narcolepsia, cataplejía, síncope

Summary: Case report of an eleven year old patient who debuts with hypersomnolence and episodes of muscle tone loss. She repeatedly receives a diagnosis of epilepsy, with normal EEG studies and brain MRI. She received a 12 month course of valproic acid treatment. A polysomnogram and multiple sleep latency test were subsequently performed, confirming a diagnosis of narcolepsy and a mood disorder. She begins treatment with antidepressants and psychostimulants. At follow up, she shows an improvement of her cataplexy, hypersomnia and mood disorder.We analyze this case to consider this pathology in the differential diagnosis of children with daytime hypersomnolence and episodes of muscle tone loss, with conserved awareness, as well as to discuss management and associated comorbidities. Key words: Ictal hypersomnolence, narcolepsy, cataplexy, syncopal episodes.

Habitual Sleep Duration, Unmet Sleep Need, and Excessive Daytime Sleepiness in Korean Adults

BACKGROUND AND PURPOSE: Sleep need differs between individuals, and so the same duration of sleep will lead to sleep insufficiency in some individuals but not others. The aim of this study was to determine the separate and combined associations of both sleep duration and unmet sleep need with excessive daytime sleepiness (EDS) in Korean adults. METHODS: The participants comprised 2,769 Korean adults aged 19 years or older. They completed questionnaires about their sleep habits over the previous month. The question regarding sleep need was "How much sleep do you need to be at your best during the day?" Unmet sleep need was calculated as sleep need minus habitual sleep duration. Participants with a score of >10 on the Epworth Sleepiness Scale were considered to have EDS. RESULTS: The overall prevalence of EDS was 11.9%. Approximately one-third of the participants (31.9%) reported not getting at least 7 hours of sleep. An unmet sleep need of >0 hours was present in 30.2% of the participants. An adjusted multivariate logistic regression analysis revealed a significant excess risk of EDS in the groups with unmet sleep needs of ≥2 hours [odds ratio (OR), 1.80; 95% confidence interval (CI), 1.27-2.54] and 0.01-2 hours (OR, 1.42; 95% CI, 1.02-1.98). However, habitual sleep duration was not significantly related to EDS. CONCLUSIONS: EDS was found to be associated with unmet sleep need but not with habitual sleep duration when both factors were examined together. We suggest that individual unmet sleep need is more important than habitual sleep duration in terms of the relation to EDS.

Prevalence of the HLA-DQB1*0602 allele in narcolepsy and idiopathic hypersomnia patients seen at a sleep disorders outpatient unit in São Paulo / Prevalência do alelo HLA-DQB1*0602 em pacientes com narcolepsia e hipersonolência idiopática atendidos em ambulatório de sonolência em São Paulo

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.

Sleep disturbances and prevalence of depression in systemic lupus erythematosus patients receiving intravenous cyclophosphamide

Background: Pulse i.v. cyclophosphamide is a therapeutic option in severe forms of systemic lupus erythematosus (SLE). However, the overall toxicity and risk profile are yet to be adequately defined. Objetive: To evaluate the occurrence of sleep disturbances in SLE patients subjected to i.v. cyclophosphamide. Methods: We studied thirty consecutive SLE patients (27 female) age range 14 to 53 years (mean 30.5 ± 10 years) that received i.v. cyclophosphamide (mg) (mean 948.27 ± 221.39). Depressive symptoms, quality of sleep, and the presence of excessive daytime sleepiness were evaluated. Disease severity was assessed by the SLEDAI. Quality of sleep was assessed by the Pittsburgh Sleep Quality Index (PSQI) and excessive daytime sleepiness (EDS) by the Epworth Sleepiness Scale (ESS). Depressive symptoms were evaluated using the 21-item Beck Depression Inventory (BDI). Results: SLEDAI values ranged from 2 to 46 (mean 17 ± 11.4). The most common comorbidities were systemic arterial hypertension (30 percent), anemia (23.3 percent), osteoporosis (23.3 percent), and cardiomyopathy (6.6 percent). Seizures occurred in one patient (3.3 percent). Poor quality of sleep (PSQI 8805; 6) and EDS (ESS >10) were found in 66.7 percent and 30 percent of the patients, respectively. Depressive symptoms (BDI >19) were present in 40 percent of the patients and were associated with poor sleep quality (P = 0.03). Conclusions: Our findings show an increased prevalence of poor sleep quality and depressive symptoms in SLE patients receiving pulse i.v. cyclophosphamide. These findings were similar to other previously reported series of SLE patients regardless of the therapies used.

INTRODUÇÃO: O uso de ciclofosfamida endovenosa é uma opção terapêutica nas formas graves de lúpus eritematoso sistêmico (LES). No entanto, a toxicidade e o perfil de risco ainda não estão adequadamente definidos. OBJETIVO: Avaliar sobre a ocorrência de alterações do sono em pacientes portadores de LES submetidos à terapia com ciclofosfamida endovenosa. MÉTODOS: Nós estudamos 30 casos consecutivos (27 do sexo feminino) com idade entre 14 e 53 anos (30,5 ± 10), em pulsoterapia com ciclofosfamida (mg) (média 948,27 ± 221,39). Os pacientes foram avaliados quanto à presença de sintomas depressivos, qualidade do sono e sonolência excessiva diurna (SED). A qualidade do sono foi estudada pelo índice de qualidade do sono de Pittsburgh (IQSP), a SED pela escala de sonolência de Epworth e os sintomas depressivos pelo Inventário de Depressão de Beck (21 itens). A gravidade da doença foi avaliada por intermédio do SLEDAI. RESULTADOS: O SLEDAI oscilou entre 2 e 46 (17 ± 11,4). Hipertensão (30 por cento), anemia (23,3 por cento), osteoporose (23,3 por cento) e miocardiopatia (6,6 por cento) foram as comorbidades mais observadas. Um paciente tinha história de convulsões (3,3 por cento). Má qualidade do sono (PSQI maior ou igual 8805; 6) foi encontrada em 66,7 por cento e SED (ESS > 10), em 30 por cento dos pacientes. Sintomas de depressão (BDI > 19) estavam presentes em 40 por cento dos casos. Os sintomas depressivos associaram-se à presença de má qualidade do sono (p = 0,03). CONCLUSÕES: Nosso estudo mostra que alterações do sono e sintomas depressivos são comuns em pacientes portadores de LES em pulsoterapia com ciclofosfamida. Esses achados são similares a outros estudos previamente relatados e são independentes do tipo de tratamento utilizado.

Síndrome de Kleine-Levin: caso clínico e dificuldades de diagnóstico / Kleine-Levin syndrome: clinical case and diagnosis difficulties

Os autores descrevem a síndrome de Kleine-Levin e referem as dificuldades de seu diagnóstico. Apresentam um caso clínico de um rapaz de 16 anos de idade, que tiveram a ocasião de diagnosticar e de acompanhar e que, embora manifestando a trilogia clássica (hipersônia, hiperfagia e hipersexualidade), é ilustrativo dessas dificuldades sob várias formas clínicas. Discutem as causas e as conseqüências colocadas pelas dificuldades de diagnóstico, prestando uma atenção especial aos aspectos de diagnóstico diferencial.

The authors describe the Kline-Levin Syndrome (KLS) and point out the difficulties regarding its diagnosis. A clinical case of a 16-year-old boy diagnosed and followed by the authors is presented. Although having the classic trilogy (hypersomnolence; hyperphagia; hypersexuality), this is an illustrative case of such difficulties under several distinct clinical forms. Causes and consequences raised by diagnostic difficulties are discussed, with special attention to aspects concerning differential diagnosis.

A Case of Unilateral Hypothalamic Infarction with Polyphagia and Hypersomnolence

Brain infarction restricted to the unilateral hypothalamus is known to be very rare because of the abundant blood supply from the circle of Willis. We report a case of right hypothalamic infarction. A 63-year-old woman developed hyperphagia, hypersomnolence and hemihyperhidrosis limited to the left half of the face. Brain MRI revealed a high signal intensity at the right anteromedial hypothalamus.