Identifying large-scale brain networks in fragile X syndrome.
Identifying large-scale brain networks in fragile X syndrome.
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DOI：
10.1001/jamapsychiatry.2013.247
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发表时间：
2013-11
期刊：
影响因子：
25.8
通讯作者：
Greicius, Michael D.
中科院分区：
文献类型：
--
作者：
Hall, Scott S.;Jiang, Heidi;Reiss, Allan L.;Greicius, Michael D.
脆性X综合征（FXS）是一种X连锁神经遗传性疾病，其特征是认知和行为表型类似自闭症谱系障碍的特征。到目前为止，研究主要集中在确定FXS患者和各种对照组之间大脑结构和功能的区域差异。关于可能构成FXS认知和行为症状基础的大规模大脑网络，我们知之甚少。识别FXS中与对照个体在年龄、智商、行为和认知症状严重程度上不同的大规模静息状态网络。在学术医疗中心进行的横断面、体内神经成像研究。参与者（年龄10-23岁）包括17名男性和女性FXS和16名男性和女性作为对照。单变量基于体素的形态学分析，低频波动的分数振幅（fALFF）分析，以及具有双重回归的组独立成分分析。与对照组相比，FXS患者的显着性、楔前叶、左侧执行控制、语言和视觉空间网络的功能连接性下降。与对照组相比，FXS患者的双侧岛叶、楔前叶和前扣带皮层的fALFF也减少。此外，FXS患者左侧岛叶皮质的fALFF与智商呈显着正相关。在FXS患者中，灰质密度降低、静息态连接和fALFF集中在左侧岛叶皮质。脆性X综合征导致多个认知和情感大脑网络的功能连接广泛减少。左岛叶皮层的结构和功能异常也与诊断为自闭症谱系障碍的个体有关，这表明FXS可能会损害大脑的完整性和连通性。这种方法可以证明在建立FXS的成像生物标志物中是有用的。
Fragile X syndrome (FXS) is an X-linked neurogenetic disorder characterized by a cognitive and behavioral phenotype resembling features of autism spectrum disorder. Until now, research has focused largely on identifying regional differences in brain structure and function between individuals with FXS and various control groups. Very little is known about the large-scale brain networks that may underlie the cognitive and behavioral symptoms of FXS. To identify large-scale, resting-state networks in FXS that differ from control individuals matched on age, IQ, and severity of behavioral and cognitive symptoms. Cross-sectional, in vivo neuroimaging study conducted in an academic medical center. Participants (aged 10–23 years) included 17 males and females with FXS and 16 males and females serving as controls. Univariate voxel-based morphometric analyses, fractional amplitude of low-frequency fluctuations (fALFF) analysis, and group-independent component analysis with dual regression. Patients with FXS showed decreased functional connectivity in the salience, precuneus, left executive control, language, and visuospatial networks compared with controls. Decreased fALFF in the bilateral insular, precuneus, and anterior cingulate cortices also was found in patients with FXS compared with control participants. Furthermore, fALFF in the left insular cortex was significantly positively correlated with IQ in patients with FXS. Decreased gray matter density, resting-state connectivity, and fALFF converged in the left insular cortex in patients with FXS. Fragile X syndrome results in widespread reductions in functional connectivity across multiple cognitive and affective brain networks. Converging structural and functional abnormalities in the left insular cortex, a region also implicated in individuals diagnosed with autism spectrum disorder, suggests that insula integrity and connectivity may be compromised in FXS. This method could prove useful in establishing an imaging biomarker for FXS.
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DOI：
10.1111/j.1365-2788.2012.01560.x
发表时间：
2012-10-01
影响因子：
3.6
作者：
Hall, S. S.;Hammond, J. L.;Reiss, A. L.
通讯作者：
Reiss, A. L.
DOI：
10.1073/pnas.0308627101
发表时间：
2004-03-30
影响因子：
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作者：
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通讯作者：
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影响因子：
10.6
作者：
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影响因子：
14.5
作者：
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通讯作者：
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影响因子：
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作者：
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