SPINA BIFIDA: COGNITIVE AND NEUROBIOLOGICAL VARIABILITY

脊髓脊膜膨出是主要的严重致残性出生缺陷 在北美，但我们对造成这种情况的因素的了解 神经行为结果是不完整的。该项目旨在使 这些碎片是连贯的。该项目的总体目标是 以确定变异的来源-遗传，环境和CNS- 解释脊柱儿童神经行为结果的变化 脑脊髓膜膨出和脑积水（SBH）。为了实现这一 目的对583例脊柱裂患儿和159例 五个项目和三个核心的控制，两个主要数据收集 地点：德克萨斯大学休斯顿医学院和医院， 生病的孩子，多伦多。项目1（遗传学; Northrup，P.I.）评估 与脊柱裂及相关神经管相关的遗传因素 西班牙裔和白人队列中的缺陷。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种可能标记中的150种。项目2（早期 Learning; Landry，P.I.）是一项对婴儿SBH的纵向研究， 7-36月龄。本研究探讨了核心 神经生物学缺陷和产生早期学习的环境 SBH儿童的缺陷。项目3（小脑; Dennis，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 （Corpus Callosum; Hannay，P.I.）检查胼胝体异常 SBH与半球间传输的关系特征， 半球特化项目5（话语和学术技能; 私家侦探巴恩斯评估在语篇、阅读和听力方面产生缺陷的因素 理解力和数学能力。这5个项目是 由行政服务核心（A;弗莱彻，P.I.）支持，主题 招募和评价核心（B;弗莱彻，P.I.），数据库， 计算机和统计核心（C;弗朗西斯，P.I.）核心B规定： 全面的医疗，神经成像和心理测量评估，每个 孩子Core C提供数据库、特定项目的数据分析， 整体数据分析。总的来说，这个综合项目 应有助于对脊柱进行综合性、多学科的了解 裂，一种常见的严重残疾。

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.