SPINA BIFIDA: COGNITIVE AND NEUROBIOLOGICAL VARIABILITY

摘要脊柱裂脑膜脊髓膨出是严重致残的出生缺陷。 在北美，但我们对导致 神经行为结果是支离破碎的。该计划项目旨在使 这些碎片是连贯的。该计划项目的总体目标是 确定可变性的来源--遗传、环境和中枢神经系统-- 解释脊椎病儿童神经行为结果的变化 脑脊膜膨出和脑积水(SBH)。要做到这一点 目的：我们建议对583名脊柱裂儿童和159名儿童进行评估。 在五个项目和两个主要数据收集的三个核心中进行控制 网站：德克萨斯大学休斯顿分校医学院和 患病儿童，多伦多。项目1(遗传学；诺斯鲁普，P.I.)评估 与脊柱裂及相关神经管相关的遗传因素 西班牙裔和高加索人群中的缺陷。大约100名候选人 将对基因进行测试，并启动全基因组搜索 允许测试330个可能的标记中的150个。项目2(早期 学习；兰德里，P.I.)是一项对患有SBH的婴儿的纵向研究 7-36个月龄。这项研究解决了核心之间的关系 神经生物学缺陷与产生早期学习的环境 患有SBH的儿童的缺陷。项目3(小脑；丹尼斯，P.I.) 评估小脑/中脑畸形在产生 与SBH相关的运动、空间和注意力缺陷。项目4 (胼胝体；汉奈，P.I.)检查了穹窿体部异常 SBH的特征与大脑半球间的传播和 半球专业化。项目5(话语和学术技能； 巴恩斯，P.I.评估了造成语篇、阅读障碍的因素 患有SBH儿童的理解力和数学能力。这5个项目是 由行政服务核心(A；Fletcher，P.I.)支持，主题 招聘和评价核心(B；Fletcher，P.I.)和数据库， 计算机和统计核心(C；Francis，P.I.)核心B提供 对每个人进行全面的医学、神经成像和心理测量评估 孩子。Core C提供数据库、特定于项目的数据分析和 整体数据分析。总而言之，这个全面的计划项目 应该促进对脊柱的综合、多学科的理解 先天性裂，一种常见的、严重的残疾。

Spina bifida meningomyelocele is the major severely disabling birth defect in North America, but our knowledge of the factors responsible for neurobehavioral outcome is fragmentary. The program project aims to make these fragments coherent. The overall objective of this program project is to identify sources of variability-genetic, environmental, and CNS-that explain variations in the neurobehavioral outcomes of children with spina bifida meningomyelocele and hydrocephalus (SBH). To accomplish this objective, we propose to evaluate 583 children with spina bifida and 159 controls in five projects and three cores at two primary data collection sites: the University of Texas-Houston Medical School and the Hospital for Sick Children, Toronto. Project 1 (Genetics; Northrup, P.I.) evaluates genetic factors associated with spina bifida and related neural tube defects in Hispanic and Caucasian cohorts. Approximately 100 candidate genes will be tested and a genome-wide search will be initiated that permits testing of 150 of 330 possible markers. Projects 2 (Early Learning; Landry, P.I.) is a longitudinal study of infants with SBH from 7-36 months of age. This study addresses the relationship of core neurobiological deficits and the environment in producing early learning deficits in children with SBH. Project 3 (Cerebellum; Dennis, P.I.) evaluates the role of cerebellum/midbrain dysmorphology in producing the motor, spatial, and attentional deficits associated with SBH. Project 4 (Corpus Callosum; Hannay, P.I.) examines the corpus callosum anomalies characteristic of SBH in relationship to interhemispheric transmission and hemispheric specialization. Project 5 (Discourse and Academic Skills; Barnes, P.I. evaluates factors producing deficits in discourse, reading comprehension, and math in children with SBH. These 5 projects are supported by an Administrative Services Core (A; Fletcher, P.I.), Subject Recruitment and Evaluation Core (B; Fletcher, P.I.), and Database, Computer, and Statistics Core (C; Francis, P.I.) Core B provides for comprehensive medical, neuroimaging and psychometric evaluations of each child. Core C provides databases, project-specific data analyses, and overall data analyses. Altogether, this comprehensive program project should facilitate an integrated, multi-disciplinary understanding of spina bifida, a common and significantly handicapping disability.