Rare Disease Sleep Pilot Research Plan

A.引言： 近年来，睡眠对健康的重要性开始显现。睡眠障碍的范围在 儿童是广泛的，尽管睡眠与正常发育和慢性病的相关性不是很好 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 描述了睡眠对大脑功能和大脑发育的重要性。始终如一， 睡眠障碍(睡眠呼吸暂停、失眠、梦游、夜惊、昏昏欲睡、周期性肢体 运动(PLM)和磨牙症)对儿童的生活质量和他们的 家人。患有神经系统疾病的人尤其危险，因为睡眠中断会导致 白天行为恶化，导致认知能力下降2。重要的是要了解 神经系统疾病儿童睡眠障碍的性质，因为这可能有重要的意义 对于生活质量和智力功能的损害程度。睡眠与睡眠之间的任何理解 问题和行为障碍将有助于这种理解。 据估计，正常人群中的睡眠问题在不同地区的患病率在18-37%之间 研究3‘4.基于问卷和访谈的智障受试者研究表明 大约15%-50%的成年人和30%-67%的儿童有睡眠问题。 Angelman综合征(AS)、Rett综合征(RTT)和Prader-Willi综合征(PWS)的睡眠异常。

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).