Rare Disease Sleep Pilot Research Plan

罕见疾病睡眠试点研究计划

• 批准号: 8381943
• 负责人: DANIEL G. GLAZE
• 金额: $ 17.32万
• 依托单位: UNIVERSITY OF ALABAMA AT BIRMINGHAM
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-08-01 至 2014-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8381943
• 关键词: Adult; Adverse effects; Age; Angelman Syndrome; Behavior; Behavioral; Brain; Bruxism; Child; Chronic Disease; Cognitive; Confusional Arousals; Data; Development; Disease; Family; Genotype; Health; Impairment; Individual; Interview; Lead; Learning; Life Cycle Stages; Memory; Mentally Disabled Persons; Nature; Neuronal Plasticity; Night Terrors; Pilot Projects; Population; Prader-Willi Syndrome; Prevalence; Quality of life; Questionnaires; Rare Diseases; Research; Rett Syndrome; Risk; Role; Severities; Sleep; Sleep Apnea Syndromes; Sleep Disorders; Sleep disturbances; Sleeplessness; Somnambulism; Treatment outcome; base; improved; limb movement; nervous system disorder; neurogenesis; novel diagnostics; sleep abnormalities

A. Introduction: The importance of sleep to proper health has emerged in recent years. The range of sleep disorders in children is broad, although the relevance of sleep to normal development and chronic illness is not well understood. Recently, critical roles for sleep in learning, memory, neurogenesis, and neural plasticity have been described, underlying the importance of sleep to brain function and brain development1. Consistently, sleep disturbances (sleep apnea, insomnia, sleepwalking, night terrors, confusional arousals, periodic limb movements (PLMS), and bruxism) have significant adverse effects on the quality of life of children and their families. Individuals with neurological disease are at particular risk because sleep disruptions lead to exacerbation of daytime behaviors and result in poor cognitive performance2. It is important to understand the nature of sleep impairments in children with neurological disorders, since this may have important implications for the degree of impairment of quality of life and intellectual functioning. Any understanding between sleep problems and behavioral disturbances would aid such understanding. The prevalence of sleep problems in the normal population is estimated to be between 18-37% in different studies3'4. Questionnaire and interview based studies among mentally retarded subjects show that approximately 15-50% of adults and 30-67% of children have sleep problems5'6 There are very little data on sleep abnormalities in Angelman syndrome (AS), Rett syndrome (RTT), and Prader-Willi syndrome (PWS).

一、简介： 近年来，睡眠对健康的重要性日益凸显。睡眠障碍的范围 儿童广泛，尽管睡眠与正常发育和慢性疾病的相关性并不好 明白了。最近，睡眠在学习、记忆、神经发生和神经可塑性中的关键作用已被证实 已经描述了睡眠对大脑功能和大脑发育的重要性1。一贯地， 睡眠障碍（睡眠呼吸暂停、失眠、梦游、夜惊、意识模糊性唤醒、周期性肢体 运动（PLMS）和磨牙症）对儿童及其生活质量有显着的不利影响 家庭。患有神经系统疾病的人面临特别的风险，因为睡眠中断会导致 白天行为加剧并导致认知表现不佳2。重要的是要了解 患有神经系统疾病的儿童睡眠障碍的性质，因为这可能具有重要意义 生活质量和智力功能受损的程度。睡眠之间有什么理解 问题和行为障碍将有助于这种理解。 在不同地区，正常人群中睡眠问题的患病率估计在 18-37% 之间。 研究3'4。对智障受试者进行的问卷调查和访谈研究表明 大约 15-50% 的成人和 30-67% 的儿童有睡眠问题5'6 关于这一点的数据非常少 Angelman 综合征 (AS)、Rett 综合征 (RTT) 和 Prader-Willi 综合征 (PWS) 中的睡眠异常。