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).

A.简介： 近年来，睡眠对适当健康的重要性已经出现。睡眠障碍范围 儿童很广泛，尽管睡眠与正常发育和慢性病的相关性不好 理解。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具有 被描述为睡眠对脑功能和大脑发育的重要性1。一贯 睡眠障碍（睡眠呼吸暂停，失眠，梦游，夜间恐怖，混乱唤醒，周期性肢体 运动（PLM）和磨牙症）对儿童及其生活质量产生重大不利影响 家庭。患有神经系统疾病的人特别有风险，因为睡眠中断导致 日常行为加剧，并导致认知表现不佳2。了解 神经系统疾病儿童睡眠障碍的性质，因为这可能具有重要的影响 为了损害生活质量和智力功能。睡眠之间的任何理解 问题和行为干扰将有助于这种理解。 正常人群中睡眠问题的患病率估计在不同的不同 研究3'4。问卷调查和基于访谈的研究对智障主题的研究表明 大约15-50％的成年人和30-67％的儿童患有睡眠问题5'6几乎没有数据 Angelman综合征（AS），RETT综合征（RTT）和Prader-Willi综合征（PWS）的睡眠异常。