Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
Medical Department, SIZA, Arnhem, The Netherlands.
J Neurodev Disord. 2022 Feb 23;14(1):14. doi: 10.1186/s11689-022-09425-1.
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.
三 X 综合征（47,XXX）是一种相对常见的性染色体非整倍体，其特征是女性存在额外的 X 染色体，并与认知、行为和精神表型的可变性相关。47,XXX 可能是研究遗传结构对大脑形态影响的合适模型。先前的研究表明，47,XXX 患者的大脑结构发生了改变，尤其是在儿童和青少年时期。在这项研究中，我们使用超高场 7T MRI 检查了成年 47,XXX 女性的皮质下和皮质脑形态。鉴于先前有研究表明 47,XXX 患者的社交功能和情绪识别受损，我们还研究了这些功能与大脑形态之间的关系。
本研究纳入了 21 名成年 47,XXX 女性和 22 名年龄和性别匹配的健康对照者。使用 7 特斯拉磁共振扫描仪采集结构 T1 加权图像。使用一般线性模型比较两组间皮质下脑容量、皮质表面积和厚度以及皮质折叠的测量值。此外，我们还通过相关性分析检查了 47,XXX 患者的脑结局测量值与社交功能和社会认知之间的潜在关系。
与健康对照组相比，47,XXX 患者的丘脑、尾状核、壳核、海马体、伏隔核和苍白球体积较小，侧脑室体积较大。47,XXX 患者的额上回和颞上回皮质表面积较小。47,XXX 患者未出现皮质厚度和皮质折叠的改变。皮质厚度与 47,XXX 患者的社会认知相关。
结果表明，女性的额外 X 染色体会影响成年后的皮质下和侧脑室体积以及皮质表面积。47,XXX 可能是研究遗传对结构脑形态影响的合适模型，以了解认知和行为障碍的神经生物学机制。
