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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]

Introduction: Narcolepsy type 1 is a sleep disorder and the most common cause of hypersonia of central origin. It is characterized by sleep attacks, cataplexy, sleep-related hallucinations, sleep paralysis and sleep fragmentation in a pleomorphic presentation. The Narcolepsy Severity Scale (NSS), questionnaire which assesses the frequency and impact of the main symptoms of narcolepsy was developed in order to determine its clinical severity, needing translation, cultural adaptation and validation in many languages. The objective is to validate the Brazilian Portuguese version of the NSS.Methods: The Brazilian version of the NSS was translated to Brazilian Portuguese and applied to patients with a diagnosis of narcolepsy type 1 at the Daytime Excessive Sleepiness Service, at Psychobiology Department of the Universidade Federal de São Paulo (UNIFESP) between February 2018 and July 2019.Results: A total of 52 patients completed the questionnaire. Cultural adaptations were made to better comprehension of patients. The Brazilian version of the NSS showed high internal consistency, demonstrated by the Cronbach's alpha coefficient of 0.82. It showed good reproducibility capacity, verified through the test-retest, whose intraclass correlation was 0.98. The average severity of Brazilian patients was 33.94 (±11.24), higher than the values found in other population, which also underwent validation of this scale. There was a correlation between sleep latency in diagnostic polysomnography and the NSS.Conclusions: The Brazilian Portuguese version of NSS showed to be valid and reproducible tool for assessing the severity of patients with type 1 narcolepsy and have potential impact on clinical practice. [ABSTRACT FROM AUTHOR]