Bartholomay Kristi L, Jordan Tracy L, Foland-Ross Lara C, Kendall Nicholas, Lightbody Amy A, Reiss Allan L
Department of Psychiatry and Behavioral Sciences, Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, Stanford, CA, USA.
Department of Epidemiology, Colorado School of Public Health, Aurora, CO, USA.
Dev Med Child Neurol. 2025 Apr;67(4):519-528. doi: 10.1111/dmcn.16081. Epub 2024 Sep 15.
To address substantial gaps in the literature on neuroanatomical variations in females with fragile X syndrome (FXS).
Surface-based modeling techniques were applied to the magnetic resonance imaging of 45 females with FXS (mean age = 10 years 9 months, range 6 years-16 years 4 months, SD = 2 years 9 months) and 33 age-matched and developmentally matched females without FXS to elucidate differences in cortical gray matter volume, surface area, and thickness. Gray matter volumes in subcortical regions were examined to ascertain differences in subcortical volume.
In females with FXS, cortical volume was greater bilaterally in the occipital pole and smaller in the right postcentral gyrus. Seven regions demonstrated lower surface area in participants with FXS, while cortical thickness was significantly greater over the posterior and medial surfaces in the group with FXS. Subcortical region of interest analyses demonstrated greater volume in the caudate nucleus, globus pallidus, and nucleus accumbens in the group with FXS. Global gray matter volume, pial thickness, and surface area were associated with behavioral outcomes in the group with FXS but not in the comparison group.
Females with FXS demonstrated unique cortical and subcortical gray matter anatomy relative to a matched comparison group. These findings may be relevant to the pathogenesis of the FXS behavioral phenotype and provide insights into behavioral interventions targeted to this population.
解决关于脆性X综合征（FXS）女性神经解剖学变异的文献中的重大空白。
将基于表面的建模技术应用于45名FXS女性（平均年龄 = 10岁9个月，范围6岁 - 16岁4个月，标准差 = 2岁9个月）和33名年龄匹配且发育匹配的无FXS女性的磁共振成像，以阐明皮质灰质体积、表面积和厚度的差异。检查皮质下区域的灰质体积以确定皮质下体积的差异。
在FXS女性中，枕极双侧皮质体积较大，右侧中央后回较小。七个区域在FXS参与者中显示出较低的表面积，而FXS组的皮质厚度在后部和内侧表面明显更大。感兴趣的皮质下区域分析表明，FXS组的尾状核、苍白球和伏隔核体积更大。FXS组的全脑灰质体积、软脑膜厚度和表面积与行为结果相关，而在对照组中则不然。
与匹配的对照组相比，FXS女性表现出独特的皮质和皮质下灰质解剖结构。这些发现可能与FXS行为表型的发病机制相关，并为针对该人群的行为干预提供见解。
