Improving Musculoskeletal Outcomes for Individuals with Osteogenesis Imperfecta

改善成骨不全患者的肌肉骨骼结果

• 批准号: 7916258
• 负责人: Laura Tosi
• 金额: $ 2.5万
• 依托单位: OSTEOGENESIS IMPERFECTA FOUNDATION, INC.
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-03-15 至 2011-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7916258
• 关键词: Adolescent; Adult; Affect; Aging; Caring; Cause of Death; Chest; Childhood; Clinical; Collagen; Consensus; Data; Decision Making; Degenerative polyarthritis; Disease; Educational workshop; Effectiveness; Endocrine; Ensure; Exercise; Foundations; Fracture; Fracture Healing; Functional disorder; Future; Gene Mutation; Genetic; Goals; Guidelines; Illinois; Independent Living; Individual; Intervention; Knowledge; Laboratories; Life; Measurement; Measures; Medical; Modality; Modeling; Muscular Atrophy; Musculoskeletal; Occupational Therapy; Operative Surgical Procedures; Orthopedics; Osteogenesis Imperfecta; Osteoporosis; Outcome; Outcome Measure; Participant; Perinatal; Pharmacotherapy; Physical Medicine; Physical therapy; Population; Prevention; Property; Publishing; Pulmonary Valve Insufficiency; Quality of life; Recommendation; Rehabilitation therapy; Research; Research Personnel; Role; Scientist; Severities; Specialist; Techniques; Technology; Testing; Therapeutic; Therapeutic Intervention; Treatment outcome; United States; Work; bone; bone quality; design; disability; improved; meetings; multidisciplinary; novel diagnostics; prevent; scoliosis; success; symposium; therapeutic evaluation

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.

描述（由申请人提供）：成骨不全 (OI) 是一种先天性疾病，影响全球约 1/10,000 人。美国大约有 30,000 人，包括越来越多的成年人，患有这种疾病。成骨不全症的特点是骨骼脆弱，容易骨折。严重程度从相对轻微的病症到不同程度的残疾，包括身材极度矮小。最严重的形式导致围产期因胸部骨骼明显发育不良和骨折而导致肺功能不全而死亡。患有成骨不全的成年人数量不断增加，要求我们超越对儿科肌肉骨骼干预措施和技术的探索，并开始评估这些干预措施在帮助成年人最大限度地独立生活和功能方面的长期影响。成功需要遗传、内分泌、骨科、物理医学、物理治疗和职业治疗专家的协调努力，这种努力必须集中于改进治疗和手术干预的评估，特别强调描绘运动的作用和预防肌肉萎缩_ 以便提高护理标准。只有这样的方法才能有助于实现成骨不全治疗的主要目标：最大限度地减少骨折，同时最大限度地提高功能和生活质量。 2010 年 4 月的科学会议“改善成骨不全症患者的肌肉骨骼结果”将于伊利诺伊州罗斯蒙特举行，这将是由成骨不全基金会协调举办的第九次此类会议。会议将包括一个为期 1 1/2 天的研讨会，多学科团队将在基金会早期工作的基础上建立优质医疗护理指南。参与者将开始探讨患有成骨不全症的青少年和成人所面临的问题，并开始就记录治疗结果的基本措施达成共识。研讨会会议记录将汇编成一份摘要文件，并在线发布，以确保尽可能多的受众。