Arch Gen Psych:脆性X综合征与特发性孤独症男性幼儿的神经解剖学具差异性
2010-12-02
来源：医脉通
文献标题：Neuroanatomical Differences in Toddler Boys With Fragile X Syndrome and Idiopathic Autism
文献出处：Arch Gen Psychiatry. Published 2010.11.01
期刊影响因子：12.257
孤独症是一种病因学异质性的神经发育异常，尚无已知的统一病因或发病机制。多种非典型神经发育障碍可能导致孤独症，其中包括目前已知的最常见的孤独症单基因脆性X综合征（FXS）。
美国斯坦福大学和北卡州大学研究学者采用横断面、体内神经影像学研究发现，孤独症单基因FXS和特发性孤独症（iAUT）的患者具有不同的神经解剖形态，研究进一步证实了iAUT具有神经生物学异质性。他们的研究结果发表在Arch Gen Psychiatry 2010.11.01网络版上。
试验选取了165名诊断为FXS或iAUT、年龄在1.57-4.15岁的男性幼儿，以发育正常和特发性发育迟缓的男性幼儿作为对照。结局的主要指标有单变量体素为基础的形态测定分析，体素为基础的形态多元模式分类（线性支持向量机）和聚类分析（自组织图）。
结果发现，与对照组相比，FXS和iAUT组参与社会认知的额叶和颞叶灰质和白质区域，包括内侧前额叶皮质、眶额皮质、颞上区、颞极、杏仁核、脑岛和背扣带有异常。然而，FXS和iAUT与对照组的差异呈现出相反的方向，总体上，iAUT容量大于对照组，而FXS组容量则小于对照组。多因素分析表明，在伴有或不伴AUT的iAUT男性幼儿大脑结构的总体形态与对照组的相似程度高于FXS。
图1 各组儿童大脑区域的体积差异（点击图片看大图）
图2 模式分类结果（点击图片看大图）
医脉通推荐英文摘要
Arch Gen Psychiatry. Published online 2010.11.01. doi:10.1001/archgenpsychiatry.2010.153
Neuroanatomical Differences in Toddler Boys With Fragile X Syndrome and Idiopathic Autism
Hoeft F, Walter E, Lightbody AA, Hazlett HC, Chang C, Piven J, Reiss AL.
(Department of Psychiatry and Behavioral Sciences and Department of Radiology, School of Medicine, and Department of Electrical Engineering, Stanford University, Stanford, California; and Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill.)
Context Autism is an etiologically heterogeneous neurodevelopmental disorder for which there is no known unifying etiology or pathogenesis. Many conditions of atypical development can lead to autism, including fragile X syndrome (FXS), which is presently the most common known single-gene cause of autism.
Objective To examine whole-brain morphometric patterns that discriminate young boys with FXS from those with idiopathic autism (iAUT) as well as control participants.
Design Cross-sectional, in vivo neuroimaging study.
Setting Academic medical centers.
Patients Young boys (n = 165; aged 1.57-4.15 years) diagnosed as having FXS or iAUT as well as typically developing and idiopathic developmentally delayed controls.
Main Outcome Measures Univariate voxel-based morphometric analyses, voxel-based morphometric multivariate pattern classification (linear support vector machine), and clustering analyses (self-organizing map).
Results We found that frontal and temporal gray and white matter regions often implicated in social cognition, including the medial prefrontal cortex, orbitofrontal cortex, superior temporal region, temporal pole, amygdala, insula, and dorsal cingulum, were aberrant in FXS and iAUT as compared with controls. However, these differences were in opposite directions for FXS and iAUT relative to controls; in general, greater volume was seen in iAUT compared with controls, who in turn had greater volume than FXS. Multivariate analysis showed that the overall pattern of brain structure in iAUT generally resembled that of the controls more than FXS, both with and without AUT.
Conclusions Our findings demonstrate that FXS and iAUT are associated with distinct neuroanatomical patterns, further underscoring the neurobiological heterogeneity of iAUT.
文献来源
Hoeft F, Walter E, Lightbody AA, Hazlett HC, Chang C, Piven J, Reiss AL.Neuroanatomical Differences in Toddler Boys With Fragile X Syndrome and Idiopathic Autism. Arch Gen Psychiatry. Published online 2010.11.01[ PubMed链接 | 期刊网站链接 ]
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