THE NATURAL HISTORY OF OSTEOPENIA IN GIRLS WITH RETT SYNDROME

RETT 综合征女孩骨质减少的自然史

• 批准号: 7605849
• 负责人: KATHLEEN J MOTIL
• 金额: $ 0.41万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-02-15 至 2007-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7605849
• 关键词: Age; Alkaline Phosphatase; Anticonvulsants; Bone Mineral Contents; Calcium; Childhood; Clinical; Computer Retrieval of Information on Scientific Projects Database; Creatinine; Data; Dietary Calcium; Documentation; Endocrine; Fracture; Funding; Gender; Grant; Individual; Injection of therapeutic agent; Institution; Intake; Leptin; Measures; Muscle; Mutation; Natural History; Oral Contraceptives; Osteocalcin; Output; Pharmaceutical Preparations; Phosphorus; Purpose; Race; Rate; Recording of previous events; Relative (related person); Research; Research Personnel; Resources; Rett Syndrome; Score; Serum; Skinfold Thickness; Source; Standards of Weights and Measures; Techniques; Thigh structure; United States National Institutes of Health; Upper arm; Ursidae Family; Vitamin D; Vitamin D2; Woman; abstracting; base; bone; demineralization; girls; urinary

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. ABSTRACT HYPOTHESIS The purpose of this study is to characterize the natural history of osteopenia in girls and women with Rett Syndrome (RS) relative to normative data and to determine if associations between bone demineralization and dietary, endocrine, or physical factors are present in these individuals. We hypothesize that: 1) the early profound losses of bone mineral content in RS girls persist into adulthood, 2) the reduction in BMC is associated with decreased ambulatory ability and increased fracture rate in RS girls and women, and 3) their reduced bone mineral content bears little relationship with dietary or endocrine factors. SPECIFIC AIMS The specific aims of this study include: 1) To determine if regional and total body bone mineral content (BMC), measured in terms of absolute values and z-scores, by dual-energy x-ray absorptiometry (DXA) is significantly lower throughout childhood and adulthood in RS girls and women than in healthy individuals, the latter based on age-, gender-, and race-specific normative data; 2) To determine if the deficits in BMC, measured as z-scores, of RS girls and women are associated positively with: a) a clinical history of bone fractures, based on previous history/x-ray documentation, b) diminished ambulatory ability, based on their ambulation score; and c) the presence of specific MECP2 mutations 3) To determine if the deficits in BMC, measured as z-scores, are associated positively with the following dietary or endocrine factors: + Reduced dietary calcium (Ca) and vitamin D intakes, measured by dietary recall + The use of anticonvulsants, determined by clinical history and confirmed by serum drug levels + The use of birth control pills/injections, as determined by clinical history + Reduced regional muscle (arm, thigh, calf) mass derived from body circumference and skinfold measurements using standard anthropometric techniques + Decreased serum Ca, phosphorus (P), ionized Ca, bone-specific alkaline phosphatase, [25-OH]vitamin D, [1,25-(OH)2]vitamin D, osteocalcin, leptin; or increased intact PTH, D-teleopeptide, urinary Ca/creatinine output

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目及 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 抽象的 假设 本研究的目的是相对于规范数据来描述患有 Rett 综合征 (RS) 的女孩和妇女骨质减少的自然史，并确定这些个体中是否存在骨脱矿与饮食、内分泌或身体因素之间的关联。 我们假设：1）RS 女孩的骨矿物质含量的早期严重损失持续到成年，2）BMC 的减少与 RS 女孩和妇女的行走能力下降和骨折率增加有关，3）她们的骨矿物质减少含量与饮食或内分泌因素关系不大。 具体目标 本研究的具体目标包括： 1) 确定 RS 女孩和妇女在整个儿童期和成年期通过双能 X 射线吸收测定法 (DXA) 以绝对值和 z 分数测量的局部和全身骨矿物质含量 (BMC) 是否明显较低与健康个体相比，后者基于年龄、性别和种族特定的规范数据； 2) 确定 RS 女孩和妇女的 BMC 缺陷（以 z 分数衡量）是否与以下因素呈正相关：a) 基于既往病史/X 射线记录的骨折临床病史，b) 行走能力下降，基于他们的行走得分； c) 特定 MECP2 突变的存在 3) 确定以 z 分数衡量的 BMC 缺陷是否与以下饮食或内分泌因素呈正相关： + 通过膳食回忆测量，膳食钙 (Ca) 和维生素 D 摄入量减少 + 抗惊厥药物的使用，由临床病史确定并通过血清药物水平确认 + 根据临床病史确定使用避孕药/注射剂 + 使用标准人体测量技术测量身体周长和皮褶，减少区域肌肉（手臂、大腿、小腿）质量 + 血清钙、磷 (P)、离子钙、骨特异性碱性磷酸酶、[25-OH]维生素 D、[1,25-(OH)2]维生素 D、骨钙素、瘦素降低；或增加完整 PTH、D-端肽、尿 Ca/肌酐输出量