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。 本研究的目的是了解Angelman综合征(AS)疾病进展的自然历史，包括临床特征、医疗并发症、生活质量和寿命。我们打算调查AS分子亚群中可能存在的任何表型-基因型相关性。 目前，对AS的唯一治疗方法是支持性的。然而，我们对AS认识的最新进展表明，有效治疗的潜力是一个现实的未来考虑。为了实施临床治疗试验，重要的是开发关于AS患者的纵向(自然病史)进展模式的准确信息。因此，这项研究的目的是收集大量AS患者的详细历史和体检数据。在这个过程中，将收集有关生存、生活质量以及共病的医疗和心理状况的信息。这些数据将对未来临床试验的适当进行至关重要。 分子诊断为AS的个体和临床诊断为AS的个体(那些符合临床标准的人，通过完整的分子测试未能发现突变)将在表型特征方面进行比较。

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. The purpose of this study is to understand the natural history of disease progression in Angelman syndrome (AS), including clinical features, medical complications, quality of life, and longevity. We intend to investigate any phenotype-genotype correlation that may exist in the molecular sub-groups of AS. At the present time, the only treatment for AS is supportive. However, recent advances in our understanding of AS suggest that the potential for effective therapies is a realistic future consideration. In order to implement clinical treatment trials, it is important to develop accurate information on the longitudinal (natural history) pattern of progression among individuals with AS. As such, the purpose of this study is to gather detailed historical and physical examination data on a large cohort of patients with AS. In the process, information on survival, quality of life, and co-morbid medical and psychological conditions will be gathered. These data will be essential for the proper conduct of future clinical trials. Individuals with a molecularly proven diagnosis of AS and those with a clinical diagnosis of AS (those meeting clinical criteria, with complete molecular testing that fails to identify a mutation) will be compared with regard to their phenotypic characteristics.