Improving Musculoskeletal Outcomes for Individuals with Osteogenesis Imperfecta

描述(由申请人提供)：成骨不全(OI)是一种先天性疾病，全世界约有1/10,000人受到影响。在美国，大约有3万人患有这种疾病，其中包括越来越多的成年人。OI的特点是脆弱的骨骼，很容易骨折。严重程度从相对轻微的情况到不同程度残疾的形式，包括极矮的身材。最严重的形式在围产期因明显发育不足和胸骨骨折而死于肺功能不全。越来越多的成人OI要求我们超越儿科肌肉骨骼干预和技术的探索，开始评估这些干预措施在帮助成年人最大化独立生活和功能方面的长期影响。成功需要遗传、内分泌、整形外科、物理医学、物理治疗和职业治疗专家的协调努力--这一努力必须侧重于改进对治疗和外科干预措施的评估，特别强调界定运动的作用和预防肌肉萎缩-以便制定更好的护理标准。只有这样的方法才有助于实现OI治疗的主要目标：尽量减少骨折，同时最大限度地提高功能和生活质量。2010年4月，将在伊利诺伊州罗斯蒙特举行的科学会议--改善OI患者的肌肉骨骼结果--将是由成骨不完美基金会协调的第九次此类会议。会议将包括一个为期一天半的研讨会，在研讨会上，一个多学科小组将在基金会早期工作的基础上建立优质医疗指导方针。与会者将开始探讨患有OI的青少年和成人面临的问题，并开始就记录治疗结果的基本措施达成共识。讲习班会议记录将汇编成一份摘要文件，并将在网上公布，以确保尽可能多的受众。

DESCRIPTION (provided by applicant): Osteogenesis imperfecta (OI) is a congenital condition that affects about 1/10,000 individuals worldwide. Approximately 30,000 individuals in the United States, including a growing number of adults, are afflicted with the disorder. The hallmark of OI is fragile bones that easily fracture. Severity ranges from a relatively mild form of the condition to forms with varying degrees of disability, including extreme short stature. The most severe forms cause death in the perinatal period from pulmonary insufficiency as a result of marked underdevelopment and fracture of bones of the chest. The growing number of adults with OI demands that we expand beyond the exploration of pediatric musculoskeletal interventions and techniques and begin to evaluate the long-term impact of these interventions in helping adults maximize independent living and function. Success requires a coordinated effort from genetic, endocrine, orthopedic, physical medicine, physical therapy, and occupational therapy specialists _ an effort that must focus on improving evaluation of therapeutic and surgical interventions, with particular emphasis on delineating the role of exercise and preventing muscle atrophy _ so that improved standards of care can be developed. Only such an approach will help meet the primary goal in the treatment for OI: to minimize fracture while maximizing function and quality of life. The April 2010 scientific conference, Improving Musculoskeletal Outcomes for Individuals with OI, which will be held in Rosemont, Illinois, will be the ninth such meeting coordinated by the Osteogenesis Imperfecta Foundation. The conference will consist of a 1 1/2 day workshop in which a multidisciplinary team builds on the Foundation's earlier work to establish guidelines for quality medical care. Participants will begin to explore the issues faced by adolescents and adults with OI and start to build a consensus on essential measures for documenting treatment outcomes. Workshop proceedings will be compiled in a summary document which will be published on-line to ensure that it reaches the largest possible audience.