THE NATURAL HISTORY OF OSTEOPENIA IN GIRLS WITH RETT SYNDROME

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。骨质减少及其伴随的骨折风险使患有Rett综合征（RTT）的女孩和妇女的临床过程复杂化。RTT患者骨质减少的患病率和病因尚不清楚。本研究的目的是描述相对于规范数据的RTT女孩和妇女骨质减少的自然历史，并确定在这些个体中，骨脱矿与饮食、炎症、内分泌或身体因素之间是否存在关联。我们将使用双能x线吸收仪测量60名RTT女孩和妇女的BMC。骨折发生率将被记录在案，并对患者的活动状态进行评分。将获得人体测量、饮食回忆、血液和尿液采样以及手部x线片，以确定BMC与区域肌肉量、膳食营养摄入、骨骼形成和降解标志物、与钙和维生素D代谢相关的激素因素以及炎症标志物之间的关系。本研究的结果将提供关于RTT女孩和妇女骨质减少患病率及其相关危险因素的基准信息。最终，从这项研究中获得的信息应导致制定治疗和预防战略，促进所有受生殖器移植影响的女孩和妇女的健康和福祉。

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. Osteopenia and its attendant fracture risk complicate the clinical course of girls and women with Rett syndrome (RTT). The prevalence and etiology of osteopenia in RTT is unknown. The purpose of this study is to characterize the natural history of osteopenia in girls and women with RTT relative to normative data and to determine if associations between bone demineralization and dietary, inflammatory, endocrine, or physical factors are present in these individuals. We will measure BMC using duel energy x-ray absorptiometry in 60 RTT girls and women. Bone fracture prevalence will be documented and ambulatory status will be scored. Anthropometric measurements, dietary recall, blood and urine sampling, and hand radiographs will be obtained to determine relations between BMC and regional muscle mass, dietary nutrient intakes, markers of bone formation and degradation, hormonal factors related to calcium and vitamin D metabolism, and markers of inflammation. The results of this study will provide benchmark information about the prevalence of osteopenia and its associated risk factors in RTT girls and women. Ultimately, the information obtained from this research should lead to the development of therapeutic and preventative strategies that promote the health and well-being of all girls and women affect with RTT.