Interview and treatment of idiopathic hypersomnia comorbidity tics disorder / 四川精神卫生

The purpose of this paper is to present the diagnosis and treatment of idiopathic hypersomnia comorbidity tics disorder. The client is 15 years old， female， a senior student， with frequent blinking and a crooked mouth since childhood， diagnosed with tics disorder. She previously had consistently good academic performance. Since the COVID-19 epidemic in 2020， the client has been sleeping more， averaging 12 hours per day， accompanied by increased daytime sleep with fatigue after waking up， and a significant decline in her studies. She was diagnosed with idiopathic hypersomnia comorbidity persistent （chronic） movement or tic disorder. It was suggested that she adopt a method of comprehensive biopsychosocial intervention. Biotherapy with methylphenidate can improve her arousal， enhance attention and improve drowsiness， meanwhile， changes to tic symptoms must be monitored. Cognitive behavioral therapy was used to help the client correct cognitive biases， reshape cognitive structure， and establish confidence in rehabilitation. Mindfulness therapy was adopted to help the client adjust her emotions. In terms of social resources， the client was encouraged to explore resources actively， seek social support， and build therapeutic alliances. Through coordinating multiple resources， the client reduced symptoms of sleepiness and enhanced her adaptability to continue with her studies.

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.

Caracterización clínico-espirométrica de pacientes asmáticos con síntomas nocturnos / Clinical-spirometric characterization of asthmatic patients with nocturnal symptoms

Introducción: Los síntomas nocturnos son frecuentes en asmáticos y pueden relacionarse con la gravedad, el grado de control del asma y la función pulmonar. Objetivos: Determinar las características demográficas, clínicas y espirométricas de pacientes asmáticos con síntomas nocturnos, que acuden a consulta externa de neumología. Métodos: Se realizó un estudio descriptivo transversal en 50 pacientes asmáticos con síntomas nocturnos, atendidos por consulta externa en el Hospital Neumológico Benéfico Jurídico, en el período comprendido de mayo de 2017 a mayo de 2018. Resultados: Predominó el sexo femenino (74,0 por ciento), la edad entre 40 y 59 años (52,0 por ciento), los antecedentes familiares de asma o alergia (60,0 por ciento) y múltiples comorbilidades asociadas (78,0 por ciento). La hipersomnia diurna estuvo presente en 80,0 por ciento de los casos, con una frecuencia significativamente elevada en pacientes con asma persistente moderada y severa, disminución de la reversibilidad aguda al broncodilatador, mal control de la enfermedad y limitación de la actividad física. Conclusiones: Los síntomas nocturnos en los pacientes asmáticos son frecuentes y se relacionan con la hipersomnia diurna, la gravedad del asma, el grado de control, la respuesta al broncodilatador y limitación de la actividad física(AU)

Introduction: Nighttime symptoms are frequent in asthmatics and can be related to severity, degree of asthma control and lung function. Objectives: To determine the demographic, clinical and spirometric characteristics of asthmatic patients with nocturnal symptoms, who go to an outpatient pulmonology clinic. Methods: A descriptive cross-sectional study was conducted in 50 asthmatic patients with nocturnal symptoms, they were assisted in the outpatient consultation at the Hospital Neumológico Benéfico Jurídico, from May 2017 to May 2018. Results: Female sex (74.0 percent), age ranging 40 and 59 years (52.0 percent), family history of asthma or allergy (60.0 percent) and multiple associated comorbidities (78.0 percent) predominated. Daytime hypersomnia was present in 80.0 percent of cases, with significantly elevated frequency in patients with moderate and severe persistent asthma, decreased acute reversibility to the bronchodilator, poor disease control, and limited physical activity. Conclusions: Nocturnal symptoms in asthmatic patients are frequent and are related to daytime hypersomnia, asthma severity, degree of control, response to the bronchodilator and limitation of physical activity(AU)

Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome

Background:Bainbridge-Ropers syndrome is a rare autosomal dominant genetic disorder.Case characteristics: A 26-day-old neonate presented with feeding difficulties, excessivesleeping, and hirsutism over forehead and lumbosacral skin. Outcome: Whole-exomesequencing identified a novel nonsensemutation. Message: We report a novel mutation ina Chinese neonate with Bainbridge-Ropers syndrome.

Narcolepsy Followed by Intractable Vomiting Caused by Recurrent Brain Involvement in Neuromyelitis Optica Spectrum Disorder

We report a 26 year-old female who initially presented with hypersomnia and visual disturbance with preceding upper respiratory infection. She was diagnosed as neuromyelitis optica spectrum disorder (NMOSD) with the presence of anti-AQP4 antibody. Eight months later, she experienced nausea and vomiting refractory to conventional therapies, which was proved correlated with a lesion of area postrema on brain magnetic resonance imaging. These might be significant clinical manifestations in NMOSD and may widen the clinical spectrum of the disease.

The effect of aircraft noise on sleep disturbance among the residents near a civilian airport: a cross-sectional study

BACKGROUND: Aircraft noise is a major environmental noise problem. This study was conducted in order to investigate the relationship between sleep disturbance and exposure to aircraft noise on the residents who are living near an airport. METHODS: There were 3308 residents (1403 in the high exposure group, 1428 in the low exposure group, and 477 in the non-exposure group) selected as the subjects for this study. The Insomnia severity Index (ISI) and Epworth Sleepiness Scale (ESS) questionnaires were used to evaluate sleep disturbance. RESULTS: The mean ISI and ESS scores were 6.9 ± 6.4 and 5.5 ± 3.7, respectively, and the average scores were significantly greater in the aircraft noise exposure group, as compared to the non-exposure group. The percentage of the abnormal subjects, which were classified according to the results of the ISI and ESS, was also significantly greater in the noise exposure group, as compared to the control group. The odd ratios for insomnia and daytime hypersomnia were approximately 3 times higher in the noise exposure group, as compared to the control group. CONCLUSIONS: The prevalence of insomnia and daytime hypersomnia was higher in the aircraft noise exposure group, as compared to the control group. Further study is deemed necessary in order to clarify the causal relationship.

Anti-Ma2-Associated Encephalitis Presenting as Hypersomnia

Anti-Ma2-associated encephalitis is one of the paraneoplastic neurological syndromes. It has been shown to be associated with various neoplasms, mainly testicular, lung, and breast cancers. Most patients with anti-Ma2-associated encephalitis present limbic-diencephalic-brainstem dysfunctions such as seizure, mood disorder, excessive daytime sleepiness, and ophthalmoparesis. Some patients develop symptoms indicating the multifocal involvement of the limbic system, diencephalon, or brainstem. However, there are few case studies of anti-Ma2-associated encephalitis presenting as isolated hypersomnia. We report a case of anti-Ma2-associated encephalitis presenting as hypersomnia.

Estudo comparativo sobre qualidade do sono entre universitários de uma instituição de ensino do sul catarinense / Comparative study about sleep quality in students of a South brazilian university

O sono tem função biológica fundamental na consolidação da memória, na termorregulação, na conservação e restauração da energia e, na restauração do metabolismo energético cerebral. Suas alterações interferem no funcionamento físico, ocupacional, cognitivo e social do indivíduo, comprometendo a qualidade de vida. Logo, este estudo objetivou estudar a qualidade do sono de 309 acadêmicos dos cursos de Medicina, Engenharia Civil e Direito, das primeiras, segundas, sétimas e oitavas fases, da Universidade do Sul de Santa Catarina, através do questionário de Pittsburgh-PSQI. Este estudo respeita a norma 466/2012 do Conselho Nacional de Saúde e, foi aprovado pelo CEP da Universidade. Dos estudantes entrevistados, 51,7% são do sexo feminino. As idades variaram de 18 a 56 anos, com média de 23 anos. 45% dos estudantes eram do curso de Medicina, 25,8% eram do curso de Engenharia Civil e 25,2% eram do curso de Direito. Por meio do questionário PSQI verificou-se que os estudantes demoravam, em média, 25 minutos para iniciar o sono. A duração média do sono na amostra foi de 6h50min. A associação entre qualidade do sono e os diferentes cursos se mostrou estatisticamente significante (p=0,009). Verificou-se que a Medicina apresentou 64,7% dos alunos com qualidade do sono ruim, no Direito, 60,3% e, no curso de Engenharia Civil 44,6% dos estudantes. Logo, concluiu-se que a qualidade do sono ruim foi mais prevalente entre os estudantes de Medicina, se comparada ao Direito e à Engenharia Civil e, a pior qualidade do sono foi encontrada nos estudantes da oitava fase.

Sleep has a fundamental biological role in memory consolidation, thermoregulation, conservation and restoration of energy. Your changes interfere with physical, occupational, cognitive and social functioning of the person, affecting the quality of life. Therefore, this study aimed to study the sleep quality of 309 academics of Medicine, Civil Engineering and Law, on the first, second, seventh and eighth semesters of the University (UNISUL), through the Pittsburgh-PSQI questionnaire. This study regards the norm 466/2012 of the National Health Council (CNS) and was approved by the Concil of Ethic Research of the University. Of the students surveyed, 51.7% are female. The ages ranged from 18 to 56 years, averaging 23 years. 45% of students were Medicine students, 25.8% were Civil Engineering students and 25.2% were Law students. The PSQI questionnaire found that students lingered on average 25 minutes to fall asleep. The average sleep duration in the sample was 6h50min. The association between quality of sleep and the different courses was statistically significant (p=0.009). It was found that Medicine has 64.7% of students with poor sleep quality, in Law 60.3% has poor quality of sleep and, in the Civil Engineering 44.6% of the students. Therefore, it was concluded that poor sleep quality was more prevalent among medical students, compared to Law and Civil Engineering and the worst sleep quality was found in the students of the eighth semester.

Kleine-Levin syndrome: a case report.

Kleine-Levin syndrome is characterized as a periodic hypersomnia crisis as well as dietary and variable significant psychiatric symptoms. This case report is of 15 year boy who presented with characterstic features of hypersomnia, hyperphagia, affective features like irritability and cognitive disturbances in an episodic manner with spontaneous remission. Due to the above clinical presentation we made the diagnosis of Kleine-Levin syndrome in this patient who was started on psychostimulant and responded well on these medications.

Positive Sleep State Misperception Mimicking Hypersomnia

A condition of underestimation of sleep is classified as paradoxical insomnia or sleep state misperception. However, overestimation of sleep, so called positive sleep state misperception has not been clearly described. Here we report a middle-aged woman with positive sleep state misperception who presented excessive sleepiness mimicking hypersomnia.

CDH13 and HCRTR2 May Be Associated with Hypersomnia Symptom of Bipolar Depression: A Genome-Wide Functional Enrichment Pathway Analysis

Although bipolar disorder is highly heritable, the identification of specific genetic variations is limited because of the complex traits underlying the disorder. We performed a genome-wide association study of bipolar disorder using a subphenotype that shows hypersomnia symptom during a major depressive episode. We investigated a total of 2,191 cases, 1,434 controls, and 703,012 single nucleotide polymorphisms (SNPs) in the merged samples obtained from the Translational Genomics Institute and the Genetic Association Information Network. The gene emerging as the most significant by statistical analysis was rs1553441 (odds ratio=0.4093; p=1.20x10-5; Permuted p=6.0x10-6). However, the 5x0-8 threshold for statistical significance required in a genome-wide association study was not achieved. The functional enrichment pathway analysis showed significant enrichments in the adhesion, development-related, synaptic transmission-related, and cell recognition-related pathways. For further evaluation, each gene of the enriched pathways was reviewed and matched with genes that were suggested to be associated with psychiatric disorders by previous genetic studies. We found that the cadherin 13 and hypocretin (orexin) receptor 2 genes may be involved in the hypersomnia symptom during a major depressive episode of bipolar disorder.

Hypersomnia and Bilateral Horner's as a Initial Presentation in Multiple Sclerosis.

Multiple Sclerosis is characterized by recurrent neurological deficiet attributable to white matter tracts, at least initially. Deep grey matter nuclei can be rarely involved in early disease as seen in MRI studies. Clinical manifestations attributable to involvement of these grey matter nuclei are extremely rare especially in early disease and is usually considered as a red flag for the diagnosis of multiple sclerosis. We report a case of a young girl presenting as a clinically isolated syndrome with bilateral Horner's and hypersomnia with MRI evidence of hypothalamic involvement.

Hypersomnia as Presenting Symptom in Wilson's Disease

Wilson's disease shows considerably various symptoms that sometimes timely diagnosis is delayed when patient shows vague clinical presentation. We present a female patient whose initial symptom was hypersomnia and severe fatigue. She was initially diagnosed as depression. Because initial hepatic function test was unremarkable, it was not easy to come to think about relationship between hepatic function and hypersomnia. Her final diagnosis was Wilson's disease. This case suggested that hypersomnia otherwise unexplained could be the presenting symptom of Wilson's disease.

Sonolência excessiva diurna: aspectos clínicos, diagnósticos e terapêuticos / Excessive daytime sleepiness: clinical, diagnostic and therapeutic aspects

A sonolência excessiva diurna (SED) é uma queixa prevalente e com grande impacto na qualidade de vida e na produtividade laborativa, além de trazer potenciais riscos de acidentes individuais e populacionais. Pacientes com doenças neurológicas, psiquiátricas, clínicas, além das próprias doenças do sono, com frequência se queixam de SED, cansaço e fadiga. O reconhecimento e o pronto tratamento desses sintomas e suas causas é importante. A abordagem pode ser farmacológica, não-farmacológica ou ambas. O acompanhamento deve ser criterioso e deve estimular a aderência, para que as melhorias na SED sejam de longo prazo.

Excessive daytime sleepiness (EDS) is a common and prevalent complaint with a great impact in quality of life and labor productivity, thus increasing potential life-threatening situations for the patient itself and the population. Patients with neurological, psychiatric, clinical disorders besides primary sleep disorders often complain of EDS, tiredness and fatigue. The recognition and prompt treatment of these symptoms and their causes are important. The approach can be pharmacological, non-pharmacological or both. Monitoring must be careful and should encourage adherence for improvements in EDS are long term.

Morningness-Eveningness Affects the Depressive Mood and Day Time Sleepiness of Obstructive Sleep Apnea Syndrome Patient / 수면정신생리

OBJECTIVES: Recent studies have reported a correlation between obstructive sleep apnea syndrome (OSA) and depression. In attempt to verify the suggestion that eveningness is related to depression, we examined the effect of morningness-eveningness on their depressive mood in patinets with OSA. METHODS: The examination was based on the medical records and polysomnography reports of 211 OSA patients. Information was gathered from the patients who filled out the Horne and Ostberg questionnaire (HOQ), profile of mood states-Korean version (K-POMS), and Epworth sleepiness scale (ESS). We compared mean values of K-POMS total, subscales of K-POMS, ESS, and OSA severity variables among the 3 morningness-eveningness groups (morningness, eveningness, and neither groups). Partial correlation analysis was performed between variables and ANCOVA was performed among the 3 groups after adjustment with age and weight. RESULTS: There were significant negative correlations between HOQ and the followings : K-POMS total, POMS-T (tension-anxiety), POMS-D (depression-dejection), POMS-A (anger-hostility), POMS-F (fatigue-inertia), POMS-C (confusion-bewilderment), spontaneous arousal index, average O2 saturation. There were significant positive correlations between HOQ and the followings : POMS-V (vigor-activity), apnea-hypopnea index, respiratory arousal index, snore time. There were significant negative correlations between POMS-D and the followings : HOQ, POMS-V, stage 1 sleep (%), AHI, TAI (total arousal index), oxygen desaturation index, respiratory arousal index, neck circumference, average O2 desaturation, snore time (%). There were significant positive correlations between POMS-D and K-POMS total, POMS-T, POMS-A, POMS-F, POMS-C, sleep latency, stage 2 sleep (%), heart rate, spontaneous arousal index. There were significant differences in K-POMS total, POMS-T, POMS-D, POMS-F, POMS-C, spontaneous arousal index among the three HOQ groups in ANCOVA. CONCLUSION: The depressive correlates of OSA patients might be affected, not by excessive daytime sleepiness or OSA severity indexes, but by eveningness circadian characteristics. It would be important to take into account the morningness-eveningness tendency when we manage the depressive mood of OSA patients.

Narcolepsy: Clinical Feature, Diagnosis and Treatment / 수면정신생리

Narcolepsy is a central neurologic system disease. It begins early in life with disabling symptoms including excessive daytime sleepiness, cataplexy, sleep paralysis, hypnagogic hallucination and nocturnal sleep fragmentation. Patient with typical symptoms of narcolepsy is diagnosed by objective data from nocturnal polysomnography and multiple sleep latency tests. Narcolepsy is controlled with various medications. Nowadays, modafinil with favorable side effects profiles compared with traditional stimulant is mainly used. Gamma hydroxyl butyrate is effective in cataplexy. Cataplexy is also controlled with antidepressant such as Venlafaxine, SSRI, and TCA. As the knowledge of pathophysiology of narcolepsy expands, new treatment including immunological method, application of hypocretin and histamine systems have been tried.

Trastornos del sueño asociados a la hipertensión arterial / Sleeping Disorders associated to High Blood Pressure

Se realizó un estudio transversal con el objetivo de establecer la relación existente entre los trastornos del sueño y la Hipertensión Arterial. La muestra estuvo formada por el total de pacientes hipertensos pertenecientes a tres consultorios médicos del Policlínico Universitario Turcios Lima en el municipio de Pinar del Río, en el periodo comprendido de enero 2006 a diciembre de 2006. Para dicho estudio se aplicó una encuesta donde se recogen datos relacionados con los trastornos del sueño más frecuentes que presentaban los pacientes. Se utilizó el método estadístico de la prueba de hipótesis de comparación de proporciones para los niveles de significación hasta 1%. Se obtuvo como resultado un elevado por ciento (81,07%) de pacientes con trastornos del sueño, el insomnio y el ronquido resultaron los trastornos más frecuentes, un tercio de los pacientes refirió síntomas subjetivos de apnea obstructiva del sueño y la mitad de los pacientes ingerían psicofármacos para dormir.

A cross-sectional study was aimed at establishing the relationship between the sleeping disorders and the high blood pressure. The sample was comprised of the total of hypertensive patients attending to three medical offices belonging to"Turcios Lima" Teaching Policlinic in Pinar del Rio municipality between January- December 2006. A survey was applied for compiling the data related to the most frequent sleeping disorders in patients .The statistical method of the hypothesis testing of comparison of proportions was used with significant levels up 1%.It was obtained a high percentage of patients with sleeping disorders (81, 07) being insomnia and snore the most frequent disorders presented, a third of patients had subjective symptoms of obstructive sleeping apnea and the half of patients used sleeping drugs.

Excessive Daytime Sleepiness among Depressed Patients

Background: Excessive daytime sleepiness (EDS) has been reported among depressed patients in many populations. Many depressed patients seek medical attention partly to deal with EDS; but this sleep disorder is often overlooked in clinical practice. Objectives: The objectives of this study were to determine the prevalence of EDS among depressed patients and determine its relationship with the severity of depression. Methods: Sixty-seven patients diagnosed with depressive episode took part in the study. The severity of depression was rated using the 17-item Hamilton Depression Rating Scale (HDRS). EDS was evaluated using the Epworth Sleepiness Scale (ESS). Results: The mean ESS score was 9.2 (SD=2.8). EDS; defined as an ESS score]10; was present in 44.8of the depressed patients. The mean score on the HDRS was 14.8 (SD=3.6); representing the mild-moderate depression range. ESS scores correlated highly and positively (r=0.69; p=0.000) with scores on the HDRS. Conclusion: In the light of the high prevalence of EDS among depressed patients and its undesirable consequences; it is suggested that daytime sleepiness be evaluated in depressed patients

Narcolepsia: reporte de evidencia y revisión bibliográfica / Narcolepsy: evidence report and bibliographic revision

El sueño es una función fisiológica cuyo mecanismo aún no está bien precisado; sin embargo, la distinción entre sueño normal o sueño lento, y sueño paradójico o sueño REM (Rapid Eye Movements), es un buen aporte a la clínica. La narcolepsia es un trastorno del sueño caracterizado por ataques de somnolencia diurna asociados a un trastorno del sueño REM donde sus componentes normales (sueños y pérdida de tono muscular) se disocian e invaden la vigilia del sujeto. Se narra el caso de un paciente con narcolepsia cuyo principal antecedente es el estar sometido a un estrés emocional intenso. Se realiza una revisión de la bibliografía publicada sobre esta patología, en la que se destaca las principales características para diagnosticar este trastorno del sueño.

Sleep is a physiological function. Its mechanism is not yet specified; nevertheless differences between normal or slow sleep and paradoxical or REM (Rapid Eye Movements) sleep is a good contribution to clinic. Narcolepsy is a sleep disorder with fits of drowsiness as its essential feature, associated to a disorder of REM sleep in which its normal features (dreams and loss of muscle tone) are dissociated and invade the wake phase of the individual. A case of a patient with narcolepsy is told whose main record is being under an intense emotional stress. Published bibliography about this disorder is checked stressing the main features to make the diagnosis of this sleep disorder.

A Case of Recurrent Hypersomnia

Recurrent hypersomnia is a disorder characterized by recurrent episodes of hypersomnia that typically occur weeks or months apart. We describe a 60-year-old woman with a four-year history of recurrent hypersomnia. Physical examinations, laboratory tests, and brain MRI showed no significant abnormality in the patient. Nocturnal polysomnographic study showed high sleep efficiency, absent sleep stage 3 and 4, and reduced sleep latency. The multiple sleep latency tests showed short sleep latency and five episodes of sleep-onset REM periods. This is the oldest known case of recurrent hypersomnia.