Domes Gregor, Croyé Marie-Anne, Freilinger Petra, Bohlscheid Andreas, Willinek Winfried A, Meyer Jobst
Department of Biological and Clinical Psychology, University of Trier, Johanniterufer 15, 54290, Trier, Germany.
Institute for Cognitive and Affective Neuroscience, University of Trier, Trier, Germany.
J Neurodev Disord. 2025 Apr 1;17(1):18. doi: 10.1186/s11689-025-09608-6.
Changes in the brain structure of women with Triple X syndrome (karyotype 47,XXX) have been described in a few studies to date, including reduced total brain volume and regional reductions in gray substance in cortical and subcortical areas. However, the empirical evidence from adults is very limited and group comparison on a voxel-wise basis for gray matter volume and cortical thickness is still missing.
Using voxel-based morphometry (VBM) and surface-based morphometry (SBM), we investigated regional gray matter changes in a sample of n = 20 adult women (aged 18-49 years) with 47,XXX karyotype using T1-weighted 3T MRI scans.
Compared to an age- and education-matched control group (and controlled for differences in total intracranial volume), the VBM revealed decreased regional gray matter volumes in the hippocampus, amygdala, parts of the basal ganglia, insula, prefrontal areas and cerebellum. To a lesser extent, we also noted specific reductions in cortical thickness in a smaller part of those regions.
The observed network is significantly involved in the processing of cognitive, affective, and social stimuli and might be a potential neuronal correlate of the autism-like social-cognitive problems described in 47,XXX in the literature.
迄今为止，已有少数研究描述了患有XXX综合征（核型47,XXX）女性的脑结构变化，包括脑总体积减少以及皮质和皮质下区域灰质的局部减少。然而，来自成年人的实证证据非常有限，基于体素的灰质体积和皮质厚度的组间比较仍然缺失。
我们使用基于体素的形态测量法（VBM）和基于表面的形态测量法（SBM），通过T1加权3T MRI扫描，对n = 20名核型为47,XXX的成年女性（年龄18 - 49岁）样本的区域灰质变化进行了研究。
与年龄和教育程度匹配的对照组相比（并控制了颅内总体积的差异），VBM显示海马体、杏仁核、部分基底神经节、脑岛、前额叶区域和小脑的区域灰质体积减少。在较小程度上，我们还注意到这些区域中较小部分的皮质厚度有特定减少。
观察到的神经网络在认知、情感和社会刺激的处理中显著参与，可能是文献中描述的47,XXX患者类似自闭症的社会认知问题的潜在神经元关联。
