Spina Bifida: Cognitive and Neurobiological Variability

脊柱裂：认知和神经生物学变异

• 批准号: 7931319
• 负责人: JACK M FLETCHER
• 金额: $ 12万
• 依托单位: UNIVERSITY OF HOUSTON
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-30 至 2011-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7931319
• 关键词: Spina; Bifida; Cognitive; Neurobiological; Variability

DESCRIPTION (provided by applicant): The objective of this program project is to identify genetic, CNS, and environmental sources of variability that explain the variations in neurobehavioral outcomes associated with spina bifida meningomyelocele (SB), the most common severely disabling birth defect in North America. In the previous five years, the investigative team identified several potential candidate genes that were associated with clinical markers (e.g., lesion level) and ethnicity. These clinical markers accounted for genetic and neurological variability and were linked to outcomes. They identified processes that cross domains of cognitive and motor function (e.g., timing) and related them to brain dysmorphology. In this continuation application, the investigators propose to evaluate 450 children and adults with SB, 20 with aqueductal stenosis, and 277 controls in four projects and three cores at two primary data collection sites: the University of Texas-Houston, and The Hospital for Sick Children, Toronto. Project I (Genetics; Northrup, PI) evaluates genetic factors associated with SB and related neural tube defects in a sample of over 2,000 Hispanic and Caucasian participants. Different statistical models will be used to test candidate genes for genetic linkage/associations and to evaluate environmental factors related to the heritability of SB. Project II (Early Learning; Landry, PI) continues a longitudinal study of 85 infants with SB and 73 controls identified at birth, following them to 7.5, 8.5, and 9.5 years of age. This study addresses the early development of core neurocognitive deficits in SB in relation to environmental factors (SES, parenting) that produce school age outcomes. Project III (Neurocognitive; Dennis, PI) evaluates core neurocognitive processes in relation to brain dysmorphology in children and adults with SB, extending the study across the life span. Project IV (Magnetic Source Imaging; Papanicolaou, PI) utilizes magnetic source imaging to evaluate the reorganization of motor, somatosensory, language, and cognitive skills in children with SB and AS, representing one of the first functional neuroimaging studies of children with congenital brain injury. These four projects are supported by an Administrative Services Core (A; Fletcher, PI), Subject Recruitment and Evaluation Core (B; Fletcher, PI), and Database and Statistics Core (C; Francis, P.I.). This comprehensive program project will facilitate an integrated, multidisciplinary understanding of SB and provides a model for other neurodevelopmental disorders with genetic heterogeneity, brain dysmorphologies, and variable neurobehavioral outcomes.

描述（由申请人提供）：本项目的目的是确定遗传、中枢神经系统和环境变异的来源，以解释与脊柱裂脑膜脊膜膨出（SB）相关的神经行为结果的变化，这是北美最常见的严重致残性出生缺陷。在过去的五年中，研究小组确定了几个与临床标志物（如病变水平）和种族相关的潜在候选基因。这些临床标记说明了遗传和神经变异，并与结果相关。他们发现了跨认知和运动功能领域的过程（例如，计时），并将其与大脑畸形联系起来。在这一延续申请中，研究人员建议评估450名患有SB的儿童和成人，20名患有输水管狭窄的儿童和277名对照者，在四个项目和三个核心中，在两个主要数据收集点：德克萨斯大学休斯顿分校和多伦多病童医院。项目一（遗传学；Northrup， PI）评估了与SB和相关神经管缺陷相关的遗传因素，涉及2000多名西班牙裔和白人参与者。不同的统计模型将用于测试候选基因的遗传联系/关联，并评估与SB遗传相关的环境因素。项目II（早期学习；Landry， PI）继续对85名患有SB的婴儿和73名出生时确定的对照组进行纵向研究，跟踪他们到7.5岁，8.5岁和9.5岁。本研究探讨了SB核心神经认知缺陷的早期发展与产生学龄期结果的环境因素（社会经济地位、父母教养）的关系。项目III（神经认知；Dennis， PI）评估与SB儿童和成人脑畸形相关的核心神经认知过程，将研究扩展到整个生命周期。Project IV （Magnetic Source Imaging; Papanicolaou， PI）利用磁源成像来评估SB和AS儿童的运动、体感、语言和认知技能的重组，这是第一批针对先天性脑损伤儿童的功能性神经影像学研究之一。这四个项目由行政服务核心（A; Fletcher，私家侦探）、学科招聘和评估核心（B; Fletcher，私家侦探）和数据库和统计核心（C; Francis，私家侦探）支持。这一综合性项目将促进对SB的综合、多学科理解，并为其他具有遗传异质性、脑畸形和可变神经行为结果的神经发育障碍提供模型。

项目成果

Perception of strong-meter and weak-meter rhythms in children with spina bifida meningomyelocele.

• DOI: 10.1017/s1355617709090845
• 发表时间: 2009-07
• 期刊: Journal of the International Neuropsychological Society : JINS
• 作者: Hopyan T;Schellenberg EG;Dennis M
• 通讯作者: Dennis M

Margaret Kennard (1899-1975): not a 'principle' of brain plasticity but a founding mother of developmental neuropsychology.

• DOI: 10.1016/j.cortex.2009.10.008
• 发表时间: 2010-09
• 期刊: CORTEX
• 影响因子: 3.6
• 作者: Dennis, Maureen

Motor contingency learning and infants with Spina Bifida.

• DOI: 10.1017/s1355617712001233
• 发表时间: 2013-02
• 期刊: JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY
• 影响因子: 2.6
• 作者: Taylor, Heather B.;Barnes, Marcia A.;Landry, Susan H.;Swank, Paul;Fletcher, Jack M.;Huang, Furong
• 通讯作者: Huang, Furong

Auditory interhemispheric transfer in relation to patterns of partial agenesis and hypoplasia of the corpus callosum in spina bifida meningomyelocele.

听觉半球间传递与脊柱裂脑膜脊髓膨出胼胝体部分发育不全和发育不全的模式有关。

• DOI: 10.1017/s1355617708080958
• 发表时间: 2008
• 期刊: Journal of the International Neuropsychological Society : JINS
• 作者: Hannay,HJulia;Walker,Amy;Dennis,Maureen;Kramer,Larry;Blaser,Susan;Fletcher,JackM
• 通讯作者: Fletcher,JackM

New survivors for the new millennium: cognitive risk and reserve in adults with childhood brain insults.

新千年的新幸存者：童年脑损伤成年人的认知风险和储备。

• DOI: 10.1006/brcg.1999.1174
• 发表时间: 2000
• 期刊: Brain and cognition.
• 作者: Dennis,M;Spiegler,BJ;Hetherington,R
• 通讯作者: Hetherington,R