三X综合征(47,XXX)是一种相对常见的性染色体非整倍体,其特征是女性中存在多余的X染色体,并且与可变的认知有关,行为和精神表型。47,XXX可以作为研究遗传结构对脑形态影响的合适模型。先前的研究表明,47,XXX的大脑结构发生了变化,尤其是在儿童和青春期。在这项研究中,我们使用超高场7TMRI检查了47,XXX成年女性的皮质下和皮质脑形态。鉴于先前的证据,在47岁的成年人中,XXX,我们还研究了这些功能与大脑形态的关系。
21名成年女性,分别为47名、XXX和22名年龄和性别匹配的健康对照。使用7特斯拉磁共振扫描仪获取结构T1加权图像。皮质下脑容积的测量,皮质表面积和厚度,使用一般线性模型获得并比较各组之间的皮质折叠。此外,我们使用相关分析,对47,XXX患者的脑结局指标与社会功能和社会认知之间的潜在关系进行了研究.
47岁,XXX的成年人表现出较低的丘脑体积,尾状,壳核,海马体,伏隔核和苍白球,侧脑室容积更大.与健康对照组相比,47名XXX参与者的额上回和颞上回的表面积较低。47,XXX中没有改变的皮质厚度和皮质折叠。在47,XXX中,皮质厚度与社会认知有关。
结果表明,女性的多余X染色体影响皮质下和侧脑室体积,和成年期的皮质表面积。47,XXX可以作为一个合适的模型,用于研究基因对整个发育阶段脑结构形态的影响,以了解认知和行为障碍的神经生物学机制。
Triple X syndrome (47,XXX) is a relatively common sex chromosomal aneuploidy characterized by the presence of a supernumerary X chromosome in females and has been associated with a variable cognitive, behavioural and psychiatric phenotype. 47,XXX may serve as a suitable model for studying the effect of genetic architecture on brain morphology. Previous studies have shown alterations in brain structure in 47,XXX particularly in childhood and adolescence. In this
study, we examined subcortical and cortical brain morphology in adult women with 47,XXX using ultra-high field 7T MRI. Given previous evidence of impaired social functioning and emotion recognition in adults with 47,XXX, we also investigated the relationship of these functions with brain morphology.
Twenty-one adult women with 47,XXX and 22 age- and sex-matched healthy controls were included. Structural T1-weighted images were acquired using a 7-Tesla magnetic resonance scanner. Measures of subcortical brain volumes, cortical surface area and thickness, and cortical folding were obtained and compared between the groups using general linear models. Additionally, we examined potential relationships between brain outcome measures and social functioning and social cognition in 47,XXX using correlation analyses.
Adults with 47,XXX showed lower volumes of the thalamus, caudate, putamen, hippocampus, nucleus accumbens and pallidum, and larger lateral ventricle volumes. Lower surface area was found in the superior frontal gyrus and superior temporal gyrus in 47,XXX participants compared to healthy controls. Altered cortical thickness and cortical folding were not present in 47,XXX. Cortical thickness was associated with social cognition in 47,XXX.
Results suggest that a supernumerary X chromosome in females affects subcortical and lateral ventricle volumes, and cortical surface area in adulthood. 47,XXX may serve as a suitable model for studying genetic influences on structural brain morphology across developmental stages in order to understand neurobiological mechanisms underlying cognitive and behavioural impairments.