LONGITUDINAL STUDY OF THE RELATIONSHIP BETWEEN IMPAIRMENT, ACTIVITY LIMITATION

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。 这项研究将建立最大规模的杜氏肌营养不良症个体综合纵向评估，并将是第一个使用世界卫生组织的S新框架的国际功能、健康和残疾分类。它还将纵向评估疾病在进展过程中对受影响的DMD患者及其家人的心理社会影响。这项研究将纵向考察损伤、继发性疾病、活动受限、参与和生活质量之间的关系。此外，这项研究还将评估DMD在一大群受试者中的心理社会影响。回归分析将确定损伤、活动、参与度和人口统计数据对生活质量的修正效果。一个广泛而广泛的数据库的成功开发将允许进行纵向前瞻性康复研究，并评估与神经肌肉疾病的生活质量结果有关的广泛干预措施。此外，该研究还将调查DMD患者的单核苷酸多态(SNPs)，以了解遗传变异如何潜在地影响DMD皮质类固醇治疗的疗效。此外，该项目将为未来专注于其他神经肌肉疾病康复研究的多中心努力提供一个模式。这项工作的结果将惠及患有DMD的男性及其家人，并可能影响未来的公共卫生政策，这将对他们的生活质量产生积极影响。 对DMD患者的长期评估将揭示与疾病进展有关的新的身体和心理社会特征，这将有助于诊断和治疗，并促进患者生活质量的改善。此外，分析DMD患者的遗传变异将为改进DMD治疗提供新的信息。 表型研究的目标1：通过多中心CINRG网络测量人体测量学、肌肉力量和肺功能，纵向评估DMD患者的身体功能和身体结构(损害)。目的2：通过CINRG纵向评估DMD受试者的活动限制，包括定时运动能力、护理负担和功能状态。目的3：纵向评估DMD受试者的继发性疾病。目的4：纵向评估DMD患者的参与度、生活满意度、服务利用和健康相关的生活质量。目的5：确定损害、活动(活动限制)、参与度和生活质量的适当结果测量，以确定泼尼松和其他治疗干预措施对这些因素的影响。目的：使用最健壮的损伤、活动、参与和生活质量结果测量，确定样本大小、力量和统计方法，以分析未来计划的随机对照康复干预对DMD的影响大小。 SNP基因分型研究的目的是确定疾病进展的多基因修饰物，以及对糖皮质激素(泼尼松和呋喃西林)治疗的反应。人类最常见的遗传变异类型是单核苷酸多态(SNP)，这是一种碱基位置，两个可选碱基在人群中以相当高的频率(&gt；1%)出现。SNPs是人类基因组90%的变异。在人类基因组的32亿个核苷酸中，每1000到2000个核苷酸中平均有1个SNPs，而编码区SNPs(CSNPs)平均每346个核苷酸中有1个。

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. This study will establish the largest comprehensive longitudinal assessment of individuals with Duchenne muscular dystrophy, and it will be the first that uses the World Health Organization''s new framework on the International Classification of Functioning, Health and Disability. It will also longitudinally assess the psychosocial impact of the disease as it progresses on the affected persons with DMD and their families. The study will longitudinally examine the relationship between impairment, secondary conditions, activity limitation, participation and quality of life. In addition the study will evaluate the psychosocial impact of DMD in a large cohort of subjects. Regression analyses will determine the modifying effects of impairment, activities, participation and demographic data on quality of life. Successful development of an extensive and broad database will allow the performance of longitudinal prospective rehabilitation research, and evaluation of broad interventions in relation to quality of life outcomes in neuromuscular disorders. Also, the study will investigate single nucleotide polymorphisms (SNPs) in DMD patients to see how genetic variability potentially influences the efficacy of corticosteroid treatment in DMD. In addition, this project will provide a model for future multicenter efforts focusing on rehabilitation research for other neuromuscular diseases. Outcomes of this work will reach males with DMD and their families and may impact future public health policies that will positively affect their quality of life. Long term assessment of patients with DMD will reveal new physical and psychosocial characteristics related to the progression of the disease that will aid in diagnosis and treatment and facilitate improvements in patient quality of life. Also, analysis of genetic variability among DMD patients will provide new information related to improving DMD therapy. Phenotyping Study Aims Aim 1: Longitudinally assess body function and body structure (impairment) through the measurement of anthropometrics, muscle strength and pulmonary function in subjects with DMD through the multicenter CINRG network. Aim 2: Longitudinally assess activity limitations in subjects with DMD through CINRG with timed motor performance, burden of care, and functional status. Aim 3: Longitudinally assess secondary conditions in subjects with DMD. Aim 4: Longitudinally assess participation, life satisfaction, service utilization and health-related quality of life in subjects with DMD. Aim 5: Determine appropriate outcome measurements for impairment, activities (activity limitations), participation and quality of life to determine the effect of prednisone and other therapeutic interventions on these factors. Aim 6: Using the most robust impairment, activity, participation and quality of life outcome measures, determine the sample size, power and statistical methods for the analysis of the effect size for future planned randomized-controlled rehabilitation interventions in DMD. SNP Genotyping Study Aims Our goal of this the proposed study is to define polygenic modifiers of disease progression, and also response to treatment with glucocorticoids (prednisone and deflazacort). The most common type of human genetic variation is the single-nucleotide polymorphism (SNP), a base position at which two alternative bases occur at an appreciable frequency (>1%) in the population. SNPs are 90% of variation in the human genome. SNPs occur on the average of 1 per 1000 to 2000 bp throughout the 3.2 billion bp of the human genome while coding region SNPs (cSNPs) occur on the average of 1 per 346 bp.