BRAIN STRUCTURE AND FUNCTION IN CHILDREN WITH NEUROFIBROMATOSIS TYPE I

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。1型神经纤维瘤病（NF-1）是影响神经系统的最常见遗传性疾病之一。具有NF-1的个体表现出色素异常以及良性和恶性肿瘤。虽然NF-1通常被认为是癌症综合征的遗传易感性，但这种疾病的一些最突出的特征并不直接归因于肿瘤形成。例如，高达40%的NF-1儿童发生认知功能障碍或学习障碍，是一般人群发生率的6至7倍。这些儿童不仅有认知困难，而且还患有行为障碍，很大一部分患有注意力缺陷/多动症。这些学习障碍和行为障碍的病因尚不清楚。 随着神经影像学的出现，在理解NF-1学习障碍的神经生物学方面有了一些研究进展。然而，这部分文献仍然非常少，只有少数研究使用了最先进的磁共振成像（MRI），许多研究使用了年龄和性别匹配不佳的小样本。使用最先进的图像处理工具，将收集NF-1学龄儿童的MRI扫描。然后将大脑结构的定量测量与健康对照组进行比较。此外，将使用神经心理学测试对两组进行认知和行为测量。最后，区域脑结构和脑功能之间的关系，来自MRI扫描的定量测量将与认知测试的表现相关。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Neurofibromatosis Type 1 (NF-1) is one of the most common genetic disorders affecting the nervous system. Individuals with NF-1 manifest pigmentary abnormalities as well as benign and malignant tumors. Although NF-1 commonly is regarded as an inherited predisposition to cancer syndrome, some of the most prominent features of this disorder are not attributable directly to tumor formation. As an example, cognitive dysfunction or learning disabilities occur in up to 40% of children with NF-1 - six to seven times the incidence seen in the general population. Not only do these children have cognitive difficulties, but they also suffer from behavioral disturbances and a large percentage have attention deficit/hyperactivity disorder. The etiology for these learning disabilities and behavioral disturbances is unclear. With the advent of neuroimaging, there has been some movement towards research in understanding the neurobiology of learning disabilities in NF-1. However, this body of literature is still very small with only a handful of studies using state of the art Magnetic Resonance Imaging (MRI), and many using small samples which were poorly matched for age and gender. Using state of the art image processing tools, MRI scans will be collected on school-aged children with NF-1. Quantitative measures of brain structure will then be compared to those of healthy controls. In addition, cognitive and behavioral measures will be obtained using neuropsychological tests on both groups. Finally, the relationship between regional brain structure and brain function, quantitative measures from the MRI scans will be correlated with performance on the cognitive tests.