ANGELMAN SYNDROME NATURAL HISTORY STUDY

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目及 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 Angelman综合征（AS）是一种神经学障碍，其导致全面发育迟缓、极少或无言语、癫痫发作、步态不协调（共济失调）、睡眠障碍以及其他医学和行为困难。 AS是由编码定位于染色体15 q11-q13的E6-AP泛素蛋白连接酶（基因符号UBE 3A）的母系遗传基因缺陷引起的。尽管医学界对AS的某些方面已经熟知，但AS的自然史尚未得到系统的描述。 由于AS是一种罕见的疾病，很少有医生在任何特定的中心跟踪超过少数患者。 需要共同努力，以更好地了解这种罕见疾病的自然史。 只有掌握了这些知识，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。 这项研究是罕见疾病临床研究Netrowk和NIH赞助下的一项计划的一部分。 本研究旨在对Angelman综合征（AS）的自然史、发病率和死亡率进行纵向多学科调查。 我们将收集AS患者队列的详细纵向数据，以更好地了解疾病进展，并跟踪该患者队列临床特征的自然史，包括生活质量和寿命评估。

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.