Mapping cortical thickness in children with 22q11.2 deletions
Mapping cortical thickness in children with 22q11.2 deletions
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DOI：
10.1093/cercor/bhl097
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发表时间：
2007-08-01
期刊：
影响因子：
3.7
通讯作者：
Thompson, Paul M.
中科院分区：
文献类型：
--
作者：
Bearden, Carrie E.;van Erp, Theo G. M.;Thompson, Paul M.
22q11.2缺失综合征（velocardiofacial/DiGeorge综合征，22q11.2DS）涉及心脏和颅面异常，视觉空间认知明显缺陷，精神病发病率升高。虽然机制尚不清楚，但特征性脑改变可能易导致22 q11 DS中精神病和认知缺陷的发展。我们应用皮质模式匹配和新的方法来测量皮质厚度毫米结构磁共振图像的21名儿童证实22q11.2缺失和13人口统计学匹配的健康对照组。厚度映射在65 536同源点，基于从皮质灰白质界面到外部灰脑脊液边界的三维距离。在上级顶叶皮层和右侧顶枕皮层（视觉空间处理的关键区域）以及双侧额下回（眶部）的最下部（语言发育的关键区域）观察到区域特异性皮层变薄的模式。缺失片段中编码的30个基因中有几个在发育中的大脑中高度表达，并且已知会影响早期神经元迁移。这些脑图谱揭示了这些基因的单倍不足如何影响皮质发育，并提示了神经行为表型的潜在病理生理学。
The 22q11.2 deletion syndrome (velocardiofacial/DiGeorge syndrome, 22q11.2DS) involves cardiac and craniofacial anomalies, marked deficits in visuospatial cognition, and elevated rates of psychosis. Although the mechanism is unknown, characteristic brain alterations may predispose to development of psychosis and cognitive deficits in 22q11DS. We applied cortical pattern matching and new methods for measuring cortical thickness in millimeters to structural magnetic resonance images of 21 children with confirmed 22q11.2 deletions and 13 demographically matched healthy comparison subjects. Thickness was mapped at 65 536 homologous points, based on 3-dimensional distance from the cortical gray-white matter interface to the external gray-cerebrospinal fluid boundary. A pattern of regionally specific cortical thinning was observed in superior parietal cortices and right parietooccipital cortex, regions critical for visuospatial processing, and bilaterally in the most inferior portion of the inferior frontal gyrus (pars orbitalis), a key area for language development. Several of the 30 genes encoded in the deleted segment are highly expressed in the developing brain and known to affect early neuronal migration. These brain maps reveal how haplo-insufficiency for such genes can affect cortical development and suggest a possible underlying pathophysiology of the neurobehavioral phenotype.