Schaer Marie, Eliez Stephan
Service-Médico-Pédagogique, Department of Psychiatry, University of Geneva, Geneva, Switzerland.
Child Adolesc Psychiatr Clin N Am. 2007 Jul;16(3):557-79. doi: 10.1016/j.chc.2007.02.002.
For almost two decades, a considerable amount of work has been devoted to the accurate delineation of normal and abnormal brain development using cerebral MRI. In the broad field of neuroimaging research, specific genetic conditions associated with impaired cognitive performances or with psychiatric symptoms have received increased attention because of their potential for revealing insight on the biologic correlates of behavior. First delineated by volumetric measurements of cerebral lobes or regions of interest, new image processing techniques are currently defining cerebral phenotypes associated with neurogenetic disorders with increasing precision. In this article the authors review the contribution of structural brain imaging in advancing our understanding of the pathogenic processes underlying altered brain development in Down, fragile X, and velocardiofacial (22q11DS) syndromes.
在近二十年的时间里，人们投入了大量工作，利用脑部磁共振成像（MRI）来准确描绘正常和异常的脑发育情况。在神经影像学研究的广阔领域中，与认知能力受损或精神症状相关的特定遗传疾病受到了越来越多的关注，因为它们有可能揭示行为的生物学关联。最初是通过对脑叶或感兴趣区域进行体积测量来描绘的，目前新的图像处理技术正在越来越精确地定义与神经遗传疾病相关的脑表型。在本文中，作者回顾了结构性脑成像在促进我们理解唐氏综合征、脆性X综合征和腭心面综合征（22q11DS）中脑发育改变的致病过程方面所做的贡献。
