Long-term follow-up on the effects of sodium oxybate on daytime sleepiness and sleep architecture in patients with narcolepsy type 1. / Efecto a largo plazo del oxibato de sodio en la somnolencia diurna y en la estructura del sueño en pacientes con narcolepsia de tipo 1.

INTRODUCTION: Sodium oxybate (SXB) was administered for the first time in 1979 in 16 patients with narcolepsy with cataplexy (NT1) that improved up to 20 months. AIMS: To evaluate the effect of SXB on daytime sleepiness and sleep architecture by video-polysomnography in a sample of 23 NT1 adult patients (13 men, 10 females) treated up to three years. Additional goal was to study the presence of sleep comorbidities. PATIENTS AND METHODS: NT1 patients were diagnosed according to International Classification of Sleep Disorders, third edition. We conducted a longitudinal observational study and a video-polysomnography comparing the sleep parameters of patients treated with an initial nocturnal dose of 4.5 g of SXB after six months (FU-1), one year (FU-2) and three years (FU-3) of uninterrupted treatment. Video-polysomnography parameters were analyzed including apnea-hypopnea and periodic leg movements indexes. RESULTS: Patients were HLA-DQB1*06:02 positive except a familial case. Thirteen patients (56%) discontinued SXB treatment over the three-year of the study. The two-nightly doses has been one of the reason for discontinuing treatment as well as insufficient compliance, mild or severe side effects, comorbidities and pregnancy. We found significant differences at FU-2 in sleep structure with an increased in stage N2 (p < 0.03) and a higher periodic leg movements index (p < 0.01). At FU-3 we found significant differences in sleep structure with an increase in stage N1 (p = 0.03) and in comorbidities (periodic leg movements and apnea-hypopnea indexes). There was not significant change on daytime sleepiness during the study. CONCLUSIONS: SXB was administered in low-medium doses. Two-nightly doses and sleep fragmentation linked to sleep comorbidities at long-term lead to drug withdrawal.

TITLE: Efecto a largo plazo del oxibato de sodio en la somnolencia diurna y en la estructura del sueño en pacientes con narcolepsia de tipo 1.Introducción. El oxibato de sodio (SXB) se utilizó en 1979 en 16 enfermos con narcolepsia-cataplejía (NT1) que mejoraron tras 20 meses de tratamiento. Objetivos. Evaluar el efecto del SXB en la somnolencia diurna y en la estructura del sueño mediante videopolisomnografía en una muestra de 23 enfermos de NT1 (13 hombres y 10 mujeres) tratados durante tres años. Investigamos adicionalmente la presencia de comorbilidad. Pacientes y métodos. Diagnosticamos a los enfermos de acuerdo con la Clasificación Internacional de Trastornos del Sueño, tercera edición. Realizamos un estudio longitudinal, observacional y de videopolisomnografía, comparando los parámetros de sueño y los índices de apnea-hipopnea y de movimientos periódicos de las piernas de los enfermos, tratados con una dosis nocturna inicial de 4,5 g de SXB al cabo de seis meses (C-1), un año (C-2) y tres años (C-3) de tratamiento ininterrumpido. Resultados. Todos los enfermos eran HLA-DQB1*06:02 positivos, excepto un caso familiar. Trece enfermos (56%) interrumpieron el tratamiento debido a las dos tomas nocturnas, así como a la presencia de efectos secundarios, comorbilidad y embarazo. Encontramos diferencias significativas en C-2 en la estructura del sueño con aumento del estadio N2 (p < 0,03) y del índice de movimientos periódicos de las piernas (p < 0,01). En el control C-3 encontramos diferencias significativas en la estructura del sueño con aumento del estadio N1 (p = 0,03), y de los índices de movimientos periódicos de las piernas y de apnea-hipopnea. Conclusiones. El SXB se administró en dos dosis nocturnas, lo que, unido a la fragmentación del sueño y a la aparición de comorbilidades, condujo a la interrupción del tratamiento a largo plazo.

[Behavior disorders during REM sleep. Two clinical cases]. / Trastorno de conducta durante el sueño MOR. Dos casos clínicos.

INTRODUCTION: The behavior disorder occurring during REM (Rapid Eye Movement) sleep is a parasomnia characterized by absence of atonia typical of this phase of sleep, although the other characteristics are maintained, namely rapid eye movements and desynchronization of cortical electrical activity. Clinically it is accompanied by abrupt, often violent movements, which may involve a limb or the trunk in relation to dreams typical of this phase of sleep, and which may interrupt sleep. Many pathological processes have been described, including: the Shy-Dragger syndrome, Parkinson's disease, olivopontocerebellar atrophy, multisystemic atrophy, in relation to certain antidepressant drugs, and most frequently the idiopathic form. CLINICAL CASES: We present two cases, one diagnosed as olivopontocerebellar atrophy and another in which there were no pathological findings. Both were referred to our department for the study of possible sleep disorders. In both cases neurophysiological studies, basically polysomnography with monitorization of various muscle groups and video, led to the diagnosis. CONCLUSIONS: We discuss the diagnostic and physiological criteria, and physiopathological explanations of each case, with special reference to N-Methyl-D-Aspartate (NMDA) and non-N-Methyl-D-Aspartate (non-NMDA) receptors. Finally we consider the pharmacological treatment of this disorder.

[Sleep and respiratory disorders in myotonic dystrophy of Steinert]. / Sueño y alteraciones respiratorias en la distrofia miotónica de Steinert.

BACKGROUND: It has been hypothesized that hypersomnia and sleep related respiratory impairment are both central in origin in myotonic dystrophy. OBJECTIVE: To describe by means of video-polysomnographic recordings the central origin of the sleep respiratory disorders. PATIENTS AND METHODS: We studied 11 patients, 6 men and 5 women (mean age 42.7 years) with myotonic dystrophy. A moderate to severe ventilatory impairment of a primarily restrictive type was seen in all patients, three of them after the first episode of respiratory insufficiency. The patients were evaluated in order to determine their body mass index and presence of sleep-related complaints. Video-polysomnographic recordings (EEG, EOG, EKG, submental and tibialis anterior EMGs, respiration and Sa02) and pulmonary function tests were performed in each patient. Identical recordings were repeated in six cases, which were to undergo non-invasive bi-level ventilation (BiPAP) in order to adjust the inspiratory and expiratory pressures and the machine mode. RESULTS: We found slight hypopnea and apnea, predominantly of a central type, in stage 1 and REM sleep and alveolar hypoventilation in all patients. Sleep was disrupted and the efficiency index was very low. In three patients HLA typing showed a positive DQ6 haplotype. Six patients were treated with n-BiPAP. CONCLUSION: Nasal-BIPAP should be considered as an alternative in ventilatory support during sleep in these patients and video-polysomnography as a valid method of evaluating the ideal time to start treatment.