Alterations in cortical and subcortical neuroanatomy and associations with behavior in females with fragile X syndrome.

IF 3.8 2区 医学 Q1 CLINICAL NEUROLOGY Developmental Medicine and Child Neurology Pub Date : 2024-09-15 DOI:10.1111/dmcn.16081
Kristi L Bartholomay, Tracy L Jordan, Lara C Foland-Ross, Nicholas Kendall, Amy A Lightbody, Allan L Reiss
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Abstract

Aim: To address substantial gaps in the literature on neuroanatomical variations in females with fragile X syndrome (FXS).

Method: 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.

Results: 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.

Interpretation: 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.

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脆性 X 综合征女性皮层和皮层下神经解剖学的改变及其与行为的关联。
目的:填补有关脆性X综合征(FXS)女性患者神经解剖变异的大量文献空白:方法:对45名女性脆性X综合征患者(平均年龄=10岁9个月,年龄范围为6岁-16岁4个月,SD=2岁9个月)和33名年龄匹配、发育匹配的非脆性X综合征女性患者的磁共振成像应用基于表面的建模技术,以阐明皮层灰质体积、表面积和厚度的差异。研究还检测了皮层下灰质体积,以确定皮层下体积的差异:结果:在患有 FXS 的女性中,双侧枕极的皮质体积较大,右侧中央后回的皮质体积较小。在 FXS 患者中,有七个区域的表面积较小,而 FXS 组患者后部和内侧表面的皮层厚度明显增大。皮层下感兴趣区分析表明,FXS 患者的尾状核、苍白球和伏隔核的体积更大。FXS患者组的整体灰质体积、皮质厚度和表面积与行为结果相关,而对比组则无关:与匹配的对比组相比,FXS 女性患者表现出独特的皮层和皮层下灰质解剖结构。这些发现可能与 FXS 行为表型的发病机制有关,并为针对这一人群的行为干预提供了启示。
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来源期刊
CiteScore
7.80
自引率
13.20%
发文量
338
审稿时长
3-6 weeks
期刊介绍: Wiley-Blackwell is pleased to publish Developmental Medicine & Child Neurology (DMCN), a Mac Keith Press publication and official journal of the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) and the British Paediatric Neurology Association (BPNA). For over 50 years, DMCN has defined the field of paediatric neurology and neurodisability and is one of the world’s leading journals in the whole field of paediatrics. DMCN disseminates a range of information worldwide to improve the lives of disabled children and their families. The high quality of published articles is maintained by expert review, including independent statistical assessment, before acceptance.
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