Lenroot R K, Blumenthal J D, Wallace G L, Clasen L S, Lee N R, Giedd J N
School of Psychiatry, University of New South Wales, Sydney, NSW, Australia; Neuroscience Research Australia, Sydney, NSW, Australia.
Genes Brain Behav. 2014 Nov;13(8):841-9. doi: 10.1111/gbb.12180. Epub 2014 Oct 27.
Trisomy X, the presence of an extra X chromosome in females (47,XXX), is a relatively common but under-recognized chromosomal disorder associated with characteristic cognitive and behavioral features of varying severity. The objective of this study was to determine whether there were neuroanatomical differences in girls with Trisomy X that could relate to cognitive and behavioral differences characteristic of the disorder during childhood and adolescence. MRI scans were obtained on 35 girls with Trisomy X (mean age 11.4, SD 5.5) and 70 age- and sex-matched healthy controls. Cognitive and behavioral testing was also performed. Trisomy X girls underwent a semi-structured psychiatric interview. Regional brain volumes and cortical thickness were compared between the two groups. Total brain volume was significantly decreased in subjects with Trisomy X, as were all regional volumes with the exception of parietal gray matter. Differences in cortical thickness had a mixed pattern. The subjects with Trisomy X had thicker cortex in bilateral medial prefrontal cortex and right medial temporal lobe, but decreased cortical thickness in both lateral temporal lobes. The most common psychiatric disorders present in this sample of Trisomy X girls included anxiety disorders (40%), attention-deficit disorder (17%) and depressive disorders (11%). The most strongly affected brain regions are consistent with phenotypic characteristics such as language delay, poor executive function and heightened anxiety previously described in population-based studies of Trisomy X and also found in our sample.
X三体综合征是指女性体内多一条X染色体（47,XXX），这是一种相对常见但未得到充分认识的染色体疾病，与严重程度各异的典型认知和行为特征相关。本研究的目的是确定患有X三体综合征的女孩在神经解剖学上是否存在差异，这些差异可能与该疾病在儿童期和青少年期的认知和行为差异有关。对35名患有X三体综合征的女孩（平均年龄11.4岁，标准差5.5岁）和70名年龄及性别匹配的健康对照者进行了磁共振成像（MRI）扫描。还进行了认知和行为测试。患有X三体综合征的女孩接受了半结构化精神科访谈。比较了两组之间的脑区体积和皮质厚度。患有X三体综合征的受试者全脑体积显著减小，除顶叶灰质外的所有脑区体积也均减小。皮质厚度的差异呈现出混合模式。患有X三体综合征的受试者双侧内侧前额叶皮质和右侧内侧颞叶的皮质较厚，但双侧外侧颞叶的皮质厚度减小。在患有X三体综合征的女孩样本中，最常见的精神障碍包括焦虑症（40%）、注意力缺陷障碍（17%）和抑郁症（11%）。受影响最严重的脑区与基于人群的X三体综合征研究中先前描述的、在我们的样本中也发现的语言发育迟缓、执行功能差和焦虑加剧等表型特征一致。
