National Spina Bifida Patient Registry and Urologic Management of Young Children with Spina Bifida - Component B

摘要 脊柱裂是最常见的永久性残疾出生缺陷，影响超过166,000人 美国人。胎儿时期神经管的不完全闭合会导致多器官损伤 包括神经系统、肌肉骨骼系统、尿路系统和胃肠系统。受影响的个人 可能会导致一系列负面的健康后果，如神经认知发育、行动能力、 肾功能、大小便失禁、皮肤完整性、生殖和整体生活质量。《国家报》 脊柱裂患者登记表(NSBPR)由疾病控制中心(CDC)开发，提供1) 更清楚地了解全美SB患者的健康状况，2)更好地描述 患有SB的美国人，3)评估SB诊所的个人和集体提供的护理 美国，4)回答假设驱动的问题，以评估临床干预对健康的影响 和SB个人的生活质量，5)确定未来合作研究的机会，6) 制定关爱某人的国家标准。在参加的头七年里 NSBPR，杜克大学的研究团队已经登记并收集了超过460人的纵向数据 与某人一起朝着这些目标前进。杜克大学临床医生-科学家在精细化和数据分析方面一直处于领先地位 NSBPR，出版了许多出版物和演示文稿。这项研究已经产生了重要的 洞察力，为SB患者带来更好的健康结果。公爵的持续参与 SB临床和他们的临床医生-NSBPR中的科学家需要帮助实现值得称赞和可获得的 美国疾病控制与预防中心制定的未来五年目标。具体地说，杜克大学临床医生-科学家的目标 包括：1)继续收集目前登记的患者的纵向数据；2)继续招募 登记的新患者，3)继续完善排尿和排便控制的定义，4) 对个别患者的可控性进行纵向分析，以更好地评估治疗方式的疗效 包括肠道管理和膀胱颈外科手术，5)评估监测的变化 随着时间的推移，患者的肾功能，以及6)帮助开发和执行一项较小的遗传基因合作研究 某人的决定因素

ABSTRACT Spina bifida (SB) is the most common permanently disability birth defect and affects more than 166,000 Americans. Incomplete closure of the neural tube during fetal life results in impairments to multiple organ systems including the nervous, musculoskeletal, urinary, and gastrointestinal systems. Affected individuals can have a range of negative health outcomes such as alterations in neurocognitive development, mobility, renal function, urinary and fecal continence, skin integrity, reproduction, and overall quality of life. The National Spina Bifida Patient Registry (NSBPR) was developed by the Centers for Disease Control (CDC) to provide 1) a clearer current picture of the health of SB patients across the US, 2) better describe the demographics of Americans with SB, 3) assess the care being delivered at SB clinics both individually and collectively around the US, 4) answer hypothesis-driven questions to assess the impact of clinical interventions upon the health and quality of life of individuals with SB, 5) identify opportunities for future collaborative research, and 6) develop national standards of care for individuals with SB. In the first seven years of participation in the NSBPR, the research team at Duke has enrolled and collected longitudinal data on more than 460 individuals with SB towards these goals. Duke clinician-scientists have been leaders in refinement and data analysis for the NSBPR, resulting in numerous publications and presentations. This research has produced significant insights that result in better health outcomes for individuals with SB. The continued participation of the Duke SB clinic and their clinician-scientists in the NSBPR is needed to help achieve the laudable and obtainable goals set forth by the CDC over the next five years. Specifically, the aims of the Duke clinician-scientists include: 1) continued collection of longitudinal data on currently enrolled patients, 2) continued recruitment of new patients into the registry, 3) continued refinement of definitions of urinary and fecal continence, 4) longitudinal analysis of continence in individual patients to better evaluate efficacy of treatment modalities including bowel management and bladder neck surgical procedures, 5) assess variations in surveillance of renal function in patients over time, and 6) help develop and execute a smaller collaborative study of genetic determinants of SB.