Evaluation of Treatments and Services to People with Duchenne Muscular Dystrophy

描述（由申请人提供）：项目总结综合来看，杜氏肌营养不良症（DMD）和较温和的等位基因变异型贝克尔肌营养不良症（BMD）是最常见的隐性形式的肌营养不良症。DMD的出生患病率估计为1/3，500（2.9/10，000）男性出生，BMD为1/18，518（0.5/10，000）男性出生。DBMD是影响多个系统的进行性疾病，包括肌肉、骨骼、呼吸和心血管。此外，社会，认知和心理发展可能受到疾病的负面影响。因此，一个全面的，多学科的方法来照顾个人与DMD是最佳的。为了促进这种护理，已经制定了针对DMD患者的治疗和服务建议，包括美国神经病学学会和儿童神经病学学会关于皮质类固醇治疗的建议，美国胸科学会关于呼吸护理的建议，美国儿科学会关于心脏监测建议的建议，以及最近的建议，2010年护理注意事项由DMD护理专家小组制定，并由美国疾病控制和预防中心（CDC）协调。在过去十年中，肌营养不良监测跟踪和研究网络（MD STARnet）对DBMD进行了积极的、基于人群的监测，以描述流行病学特征，并在亚利桑那州、科罗拉多州、爱荷华州和纽约西部的四个地点对患有DBMD的儿童进行长期随访和跟踪。对于目前的项目，我们建议利用和更新MD STARnet收集的数据，以系统地评估向DMD患者提供的治疗和服务之间的一致性，并将接受的治疗与2010年DMD护理注意事项中记录的建议进行比较。这将确定建议的护理标准与实际接受的护理之间的差距。此外，我们将调查MD STARnet确定的医疗保健提供者，以确定提供治疗和服务所涉及的障碍和挑战。MD STARnet的四个站点所覆盖的地理区域反映了美国DMD患者的社会人口特征。虽然国际上正在努力检查DMD患者接受推荐的护理（例如，加拿大儿科神经肌肉组织），但美国尚未进行类似的努力。我们提出的项目将允许一个比较评估的实施DMD护理的考虑因素，在人口为基础的样本与DMD的个人在美国。该项目有可能通过评估护理考虑因素的吸收和确定可能阻止向DMD患者提供推荐的医疗保健的障碍，产生重大的公共卫生影响。研究结果的传播将告知致力于DMD的医疗保健提供者实际和推荐护理之间的潜在差异，并提供减少这些差异的潜在解决方案。

DESCRIPTION (provided by applicant): Project Summary Taken together, Duchenne muscular dystrophy (DMD) and the milder allelic variant Becker muscular dystrophy (BMD) are the most common recessive form of muscular dystrophy. The birth prevalence of DMD has been estimated at 1 in 3,500 (2.9 per 10,000) male births and BMD at 1 in 18,518 (0.5 per 10,000) male births. DBMD are progressive diseases that affect multiple systems including muscular, skeletal, respiratory, and cardiovascular. In addition, social, cognitive and psychological development can be negatively affected by the disease. As a result, a comprehensive, multidisciplinary approach to the care of individuals with DMD is optimal. In order to promote such care, recommendations for treatments and services for individuals with DMD have been developed and include those by the American Academy of Neurology and Child Neurology Society on corticosteroid treatment, American Thoracic Society on respiratory care, American Academy of Pediatrics on cardiac surveillance recommendations and, more recently, the 2010 Care Considerations on whole care developed by panels of experts in the care of DMD and coordinated by the US Centers for Disease Control and Prevention (CDC). Over the past decade, the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) has conducted active, population-based surveillance of DBMD to characterize the epidemiology and develop long-term follow-up and tracking of children with DBMD across four sites in Arizona, Colorado, Iowa, and western New York. For the current project, we propose to utilize and update data collected by the MD STARnet to systematically evaluate agreement between treatments and services provided to individuals who have DMD and compare treatment received to the recommendations documented in the 2010 DMD Care Considerations. This will identify gaps between recommended standards of care and actual care received. Additionally, we will survey health care providers identified by the MD STARnet to identify barriers and challenges involved in the delivery of treatments and services. The geographical area covered by the four sites of the MD STARnet mirrors the socio-demographic characteristics of people with DMD in the United States. Although international efforts to examine the uptake of recommended care in DMD are underway (e.g., TREAT-NMD, Canadian Pediatric Neuromuscular group), similar efforts have not been undertaken in the United States. Our proposed project will allow a comparative evaluation of the implementation of the DMD Care Considerations in a population-based sample of individuals with DMD within the US. This project has the potential of having a major public health impact by evaluating the uptake of care considerations and identifying barriers that may prevent the delivery of recommended health care to individuals with DMD. The dissemination of the findings will inform health care providers dedicated to DMD of the potential disparities between actual and recommended care and provide potential solutions for reducing these discrepancies.