THE NATURAL HISTORY OF OSTEOPENIA IN GIRLS WITH RETT SYNDROME

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。骨量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患者骨量减少的发生率和病因尚不清楚。这项研究的目的是根据标准数据描述患有RTT的女孩和妇女的骨量减少的自然病史，并确定这些个体中是否存在骨脱矿化与饮食、炎症、内分泌或身体因素之间的关联。我们将用双能X线骨密度仪测量60名RTT女孩和妇女的BMC。骨折患病率将被记录下来，并对步行状态进行评分。将获得人体测量、饮食回忆、血液和尿液采样以及手部X光照片，以确定BMC与局部肌肉质量、饮食营养摄入量、骨形成和降解标记物、与钙和维生素D代谢有关的激素因素以及炎症标记物的关系。这项研究的结果将提供有关RTT女孩和妇女骨量减少的流行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该有助于制定治疗和预防战略，以促进所有受RTT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.