ANGELMAN SYNDROME NATURAL HISTORY STUDY

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 Angelman综合征(AS)是一种神经系统疾病，导致全球发育迟缓、极少或缺少语言、癫痫发作、步态不协调(共济失调)、睡眠障碍以及其他医疗和行为困难。AS是由于定位于染色体15q11-q13的编码E6-AP泛素蛋白连接酶(基因符号UBE3A)的母系传播基因缺失所致。尽管AS的某些方面已为医学界所熟知，但AS的自然历史尚未被系统地描述。由于AS是一种罕见的疾病，很少有医生在任何给定的中心跟踪超过少数患者。需要合作努力才能更好地了解这种罕见疾病的自然历史。只有有了这些知识，我们才能制定治疗干预措施，设计治疗方法，并提出未来的临床试验。这项研究是由罕见疾病临床研究网络和美国国立卫生研究院发起的一项倡议的一部分。 本研究旨在对安杰曼综合征(AS)的自然病史、发病率和死亡率进行纵向多学科调查。我们将收集一组AS个体的详细纵向数据，以更好地了解疾病的进展，并跟踪该患者队列的临床特征的自然历史，包括对生活质量和寿命的评估。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Angelman syndrom (AS) is a nuerological disorder that causes global developmental delay, minimal or absent speech, seizures, uncoordinated gait (ataxia), sleep disturbances, and other medical and behavioral difficulties. AS is caused by deficiency of the maternally-transmitted gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13. Although some aspects of AS are well known to the medical community, the natural history of AS has not been systematically described. Since AS is a rare disorder, few physicians follow more than a handful of patients at any given Center. A collaborative effort is needed to better understand the natural history of this rare condition. It is only with this knowledge that we will be able to formulate treatment interventions, devise therapies and propose future clinical trials. This study is part of an initiative under the auspices of the Rare Disease Clinical Research Netrowk and the NIH. This study is designed to conduct longitudinal multidisciplinary investigations on the natural history, morbidity and mortality of Angelman Syndrome (AS). We will collect detailed longitudinal data on a cohort of AS individuals to gain a better understanding of the disease progression, and follow the natural history of the clinical features of this patient cohort including assessment of quality of life and longevity.