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

摘要 脊柱裂（SB）是最常见的永久性残疾出生缺陷，影响超过166，000 美国人胎儿期神经管不完全闭合导致多器官功能障碍 包括神经系统、肌肉骨骼系统、泌尿系统和胃肠道系统在内的系统。受影响的个人 可能有一系列负面的健康结果，如神经认知发育，移动性， 肾功能、尿和粪便排泄、皮肤完整性、生殖和总体生活质量。国家 脊柱裂患者登记（NSBPR）由疾病控制中心（CDC）开发，以提供1） 更清楚地了解美国SB患者的健康状况，2）更好地描述 美国人与SB，3）评估护理正在提供的SB诊所无论是个人和集体周围 4）回答假设驱动的问题，以评估临床干预对健康的影响 SB患者的生活质量，5）确定未来合作研究的机会，以及6） 制定SB患者的国家护理标准。 杜克大学的研究小组NSBPR已经招募并收集了460多人的纵向数据 为实现这些目标而奋斗。杜克临床科学家一直是细化和数据分析的领导者， NSBPR，产生了许多出版物和演示文稿。这项研究产生了重大的 这些见解为SB患者带来了更好的健康结果。杜克的持续参与 SB诊所和他们的临床科学家在NSBPR是需要帮助实现值得称赞的和可获得的 这是CDC在未来五年提出的目标。具体来说，杜克临床科学家的目标是 包括：1）继续收集当前入组患者的纵向数据，2）继续招募 新患者进入登记研究，3）继续完善尿液和粪便排泄物的定义，4） 对个体患者进行纵向分析，以更好地评价治疗方式的疗效 包括肠道管理和膀胱颈外科手术，5）评估 随着时间的推移，患者的肾功能，和6）帮助开发和执行一个较小的遗传合作研究， SB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.