Narcolepsy is a sleep disorder, which is characterized by excessive daytime sleepiness (EDS) that is typically associated with cataplexy, sleep fragmentation and other REM sleep-related phenomenon such as sleep paralysis and hypnagogic hallucination. Narcoleptic symptoms can be developed from various medical or neurological disorders. A 17-year-old male patient admitted for the evaluation of EDS which started three-month ago. He slept more than 18 hours a day with cataplexy and hypnagogic hallucination. He was obese with body mass index (BMI) of 30.4 kg/m2. After admission he was newly diagnosed to the thyrotoxicosis. T3 391.2 ng/dL (60-181), free T4 4.38 ng/dL (0.89-1.76), TSH <0.01 microIU/mL (0.35-5.5) were measured. His pulse rate ranged 70-90 beats per minute and blood pressure ranged 150/100-120/70 mmHg. Polysomnography revealed many fragmentations in sleep with many positional changes (81 times/h). Sleep onset latency was 33.5 min, sleep efficiency was 47.9%, and REM latency from sleep onset was delayed to 153.6 min. REM sleep percent was increased to 27.1%. Periodic limb movement index was 13.4/h. In the multiple sleep latency test (MSLT), average sleep latency was 0.4 min and there were noted 3 SOREMPs (Sleep Onset REM sleep period) on 5 trials. We couldn't discriminate the obvious sleep-wake pattern in the actigraph and his HLA DQB1 *0602 type was negative. His thyroid function improved following treatment with methimazole and propranolol. Vital sign maintained within normal range. Cataplexy was controlled with venlafaxine 75 mg. Subjective night sleep continuity and PLMS were improved with clonazepam 0.5 mg, but the EDS were partially improved with modafinil 200-400 mg. Thyrotoxicosis might give confounding role when we were evaluating the EDS, though sleep fragmentation was one of the major symptoms of narcolepsy, but enormous amount of it made us think of the influence of thyroid hormone. The loss of sleep-wake cycle, limited improvement of EDS to the stimulant treatment, and the cataplexy not supported by HLA DQB1 *0602 should be answered further. We still should rule out idiopathic hypersomnia and measuring CSF hypocretin level would be helpful.
Adolescent ; Benzhydryl Compounds ; Blood Pressure ; Body Mass Index ; Cataplexy ; Clonazepam ; Cyclohexanols ; Extremities ; Hallucinations ; Heart Rate ; HLA-DQ beta-Chains ; Humans ; Hypersomnolence, Idiopathic ; Intracellular Signaling Peptides and Proteins ; Male ; Methimazole ; Narcolepsy ; Nervous System Diseases ; Neuropeptides ; Polysomnography ; Propranolol ; Reference Values ; Sleep Deprivation ; Sleep Paralysis ; Sleep, REM ; Thyroid Gland ; Thyrotoxicosis ; Vital Signs ; Orexins ; Venlafaxine Hydrochloride

OBJECTIVE: Diurnal preference is an attribute reflecting whether people are alert and preferring to be active either early or late in the day. It also referred to as chronotype or morningness-eveningness trait. The PER3 genes have been known to influence diurnal preference. In this study, we have investigated the associations between the PER3 gene polymorphisms and diurnal preference in a healthy young population, controlling for the social and environmental confounding factors. METHODS: The participants in this experiment included 299 unrelated medical college students (M=191, F=108), with a mean age of 22.9 years. Diurnal preference was measured by a single administration of the 13-item Composite Scale for Morningness (CSM). Genotyping of the PER3 VNTR (rs57875989) was performed using polymerase chain reaction. A two-tailed alpha of 0.05 was chosen. RESULTS: The mean+/-SD score on the CSM scale for all subjects was 31.90+/-6.39. There was no significant difference in total CSM score between gender groups, although females showed a trend towards higher morningness score. Although PER3 5R/5R showed the tendency towards high CSM scores, there were no significant differences on CSM scores among genotypes and allele status of PER3 VNTR (rs57875989). CONCLUSIONS: We could not confirm that the PER3 VNTR is associated with diurnal preference in a Korean healthy young population. The future studies need to investigate the association between diurnal preference and other polymorphisms of PER3 gene in larger sample of Korean young healthy population.
Alleles ; Female ; Genotype ; Humans ; Polymerase Chain Reaction

OBJECTIVES: The purposes of this study were to estimate the effect of mandibular advancement device (MAD) and to evaluate the influence of the advancement amount of mandible in the application of MAD for obstructive sleep apnea (OSA) patients. METHODS: From the patients who were diagnosed as OSA by polysomnographic study at Seoul National University Bundang Hospital from January 2007 to February 2009, the patients who chose MAD as treatment option were included in this study. All the patients' data including clinical records and polysomnographic studies (both pre- and post-treatment) were reviewed and analyzed. RESULTS: Successful results were obtained in 65 patients of 86 patients (75.6%). In the follow-up period, mild discomfort of anterior teeth or temporomandibular joint (TMJ) were described in 28 patients, especially in the cases the amount of mandibular advancement were more than 7.0 mm. There was no direct relationship between the amount of mandibular advancement and clinical outcome. CONCLUSION: MAD was effective treatment option for the OSA patients regardless of severity. For the prevention of potential dental complications, the amount of mandibular advancement should be considered at the time of MAD treatment.
Adenine Nucleotides ; Follow-Up Studies ; Humans ; Mandible ; Mandibular Advancement ; Mycophenolic Acid ; Sleep Apnea, Obstructive ; Temporomandibular Joint ; Tooth

OBJECTIVES: REM sleep behavior disorder (RBD) has received little attention in epidemiologic studies. This study aimed to determine the prevalence of probable REM sleep behavior disorder (pRBD) in the elderly population and its clinical features. METHODS: A random sample of 1,588 was selected from a roster of 14,050 elderly population living in Osan city. The subjects were asked to fill out the REM sleep behavior disorder screening questionnaire (RBDSQ). Subjects whose score were 5 or higher on RBDSQ underwent a diagnostic phase of person-to-person assessment by experts in RBD. RESULTS: Among 1,588 subjects, 886 elderly subjects participated in the screening phase and 123 subjects were assessed in the diagnostic phase. Eleven subjects were diagnosed as having pRBD, so prevalence was 1.5% (95% CI=0.70-2.30%). The frequency of depression and cognitive decline was significantly increased in patients with pRBD compared to subjects without pRBD, and there was no difference in sleep disturbances between two groups. CONCLUSIONS: Probable REM sleep behavior disorder is not rare in the elderly but frequently under-recognized. More attention should be paid to evaluation and treatment of RBD.
Aged ; Depression ; Epidemiologic Studies ; Humans ; Mass Screening ; Prevalence ; Surveys and Questionnaires ; REM Sleep Behavior Disorder ; Sleep, REM

Childhood narcolepsy is one of the underdiagnosed diseases even the first symptoms often appear in childhood. Making diagnosis through history taking is not always easy because the symptoms of childhood narcolepsy are different from those of adulthood. Diagnostic laboratory tests such as sleep studies, tests for human leukocyte antigens, cerebrospinal fluid hypocretin measurement should be considered when the child has excessive daytime sleepiness without cataplexy. Treatment approach should be start as early as possible to avoid secondary academic, emotional difficulties. Both pharmacological and non-pharmacological management, and close cooperation between parents and school teachers should be maintained. In the near future, childhood narcolepsy can be a key to understand the pathogenesis of narcolepsy.
Cataplexy ; Child ; HLA Antigens ; Humans ; Intracellular Signaling Peptides and Proteins ; Narcolepsy ; Neuropeptides ; Parents ; Orexins

There has been a growing interest in sleep problems associated with attention deficit hyperactivity disorder (ADHD). In this paper, we reviewed the current literature on the underlying sleep problems associated with ADHD. Sleep problems are very common in children with ADHD. Patients with ADHD may have sleep difficulties including difficulty falling asleep, frequent night awakening, increased tiredness upon waking. Children with ADHD are associated to restless legs syndrome, periodic limb movement and sleep-disordered breathing. Screening for other psychiatric comorbidities and the side effects of medications, such as psychostimulants, is also necessary when considering sleep problems in ADHD. Sleep problems can cause a negative impact on the quality of life and emotional well-being both of children with ADHD and their parents. Many evidences suggest that assessment of sleep difficulties should be included in evaluating the patient of ADHD.
Attention Deficit Disorder with Hyperactivity ; Child ; Comorbidity ; Extremities ; Humans ; Mass Screening ; Parents ; Quality of Life ; Restless Legs Syndrome ; Sleep Apnea Syndromes

Sleep-related eating disorder (SRED) is a newly recognized parasomnia that describes a clinical condition of compulsive eating under an altered level of consciousness during sleep. Recently, it is increasingly recognized in clinical practice. The exact etiology of SRED is unclear, but it is assumed that SRED might share features of both sleepwalking and eating disorder. There have been also accumulating reports of SRED related to the administration of various psychotropic drugs, such as zolpidem, triazolam, olanzapine, and combinations of psychotropics. Especially, zolpidem in patients with underlying sleep disorders that cause frequent arousals, may cause or augment sleep related eating behavior. A thorough sleep history is essential to recognition and diagnosis of SRED. The timing, frequency, and description of food ingested during eating episodes should be elicited, and a history of concurrent psychiatric, medical, sleep disorders must also be sought and evaluated. Interestingly, dopaminergic agents as monotherapy were effective in some trials. Success with combinations of dopaminergic and opioid drugs, with the addition of sedatives, has also been reported in some case reports.
Arousal ; Benzodiazepines ; Consciousness Disorders ; Dopamine Agents ; Eating ; Feeding and Eating Disorders ; Feeding Behavior ; Humans ; Hypnotics and Sedatives ; Parasomnias ; Psychotropic Drugs ; Pyridines ; Sleep Wake Disorders ; Somnambulism ; Triazolam

Obesity hypoventilation syndrome (OHS) is characterized by severe obesity, excessive daytime sleepiness, hypoxemia and hypercapnea. Because OHS mimics pulmonary hypertension or cor pulmonale, clinicians should recognize and treat this syndrome appropriately. A 58-year-old female visited the emergency room because of dyspnea. She was obese and had kyphoscoliosis. The patient also experienced snoring, recurrent choking during sleep and daytime hypersomnolence which worsened after gaining weight in the recent year. The arterial blood gas analysis showed she experienced hypoxemia and hypercapnea not only during nighttime but also daytime. We suspected OHS and the patient underwent polysomnography to confirm whether obstructive sleep apnea was present. During the polysomnography test, sleep obstructive apnea was observed and apnea-hypopnea index was 9.2/hr. The patient was treated with bilevel positive airway pressure therapy (BiPAP). After BiPAP for 4 days, hypoxemia and hypercapnia were resolved and she is currently well without BiPAP. We report a case successfully treated with clinical improvement by presuming OHS early in a patient who had typical OHS symptoms, even while having other conditions which could cause hypoventilation.
Airway Obstruction ; Anoxia ; Apnea ; Blood Gas Analysis ; Disorders of Excessive Somnolence ; Dyspnea ; Emergency Service, Hospital ; Female ; Humans ; Hypercapnia ; Hypertension, Pulmonary ; Hypoventilation ; Middle Aged ; Obesity Hypoventilation Syndrome* ; Obesity, Morbid ; Polysomnography ; Pulmonary Heart Disease ; Sleep Apnea, Obstructive ; Snoring

OBJECTIVES: The pathophysiology of restless legs syndrome (RLS) has not been fully elucidated. Oxidative stress might play a role in the development of RLS and other antipsychotic-induced side effects such as tardive dyskinesia. In the present study, we investigated whether the glutathione S-transferase (GST) gene polymorphisms are associated with antipsychotic-induced RLS in schizophrenia. METHODS: We assessed antipsychotic-induced RLS symptoms in 190 Korean schizophrenic patients using the diagnostic criteria of the International Restless Legs Syndrome Study Group. The GST-M1, GST-T1 and GST-P1 loci were analyzed using PCR-based methods. RESULTS: We divided the subjects into 2 groups: those with RLS symptoms (n = 96) and those without RLS symptoms (n = 94). There were no significant differences in the distributions of the GST-M1 genotypes (chi2 = 3.56, p = 0.059), GST-T1 (chi2 = 0.51, p = 0.476) and GST-P1 (chi2 = 0.57, p = 0.821) between the 2 groups. Comparison of the RLS score among genotypes of the GST-M1 (t = -1.54, p = 0.125), GST-T1 (t = -0.02, p = 0.985) and GST-P1 (F = 0.58, p = 0.560) revealed no significant difference. CONCLUSION: These data suggest that GST gene polymorphisms do not confer increased susceptibility to RLS symptoms in schizophrenic patients. Future studies are necessary to evaluate the possible influences of other candidate genes involved in the reactive oxygen species system.
Antipsychotic Agents ; Genotype ; Glutathione Transferase* ; Humans ; Movement Disorders ; Oxidative Stress ; Reactive Oxygen Species ; Restless Legs Syndrome* ; Schizophrenia

OBJECTIVES: Restless legs syndrome (RLS) is a common sleep disorder in adults with diabetes. This study investigated the frequency of RLS and clinical correlations in children and adolescents with type 1 diabetes. METHODS: This study included 55 consecutive patients (21 males, age 12.6 +/- 3.4 years) with type I diabetes that were regularly treated at the Department of Pediatric Endocrinology. RLS was diagnosed by intensive interviews which also included the Epworth Sleepiness Scale (ESS) and International RLS Rating Scale (IRLSRS). Patients also received neurological examinations and laboratory tests for diabetes, iron metabolism and renal function. RESULTS: Thirteen patients (23.6%, 6 males) were compatible for the diagnostic criteria of RLS. None of the RLS patients showed abnormal findings in neurological evaluations and 7 patients had familial history of RLS. Demographic and laboratory findings were not different between the patients with or without RLS. The RLS group showed significantly increased ESS and IRLSRS scores. CONCLUSION: RLS was prevalent in children and adolescents with type I diabetes. The association between RLS and diabetes-related laboratory findings requires further investigation.
Adolescent* ; Adult ; Child* ; Endocrinology ; Humans ; Iron ; Male ; Metabolism ; Neurologic Examination ; Restless Legs Syndrome*