ANGELMAN SYNDROME NATURAL HISTORY STUDY

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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.