Periventricular white matter abnormalities and restricted repetitive behavior in autism spectrum disorder.
Periventricular white matter abnormalities and restricted repetitive behavior in autism spectrum disorder.
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DOI：
10.1016/j.nicl.2015.10.017
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Kuzniecky R
中科院分区：
文献类型：
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作者：
Blackmon K;Ben-Avi E;Wang X;Pardoe HR;Di Martino A;Halgren E;Devinsky O;Thesen T;Kuzniecky R
在死后的神经病理学评估中，自闭症谱系障碍（ASD）患者的皮质发育畸形发生率高于健康对照组，但在活体MRI脑扫描的视觉检查中观察到的差异更大。这可能是由于许多畸形在MRI上的视觉难以捉摸的性质。在这里，我们利用定量方法来确定相对于典型发展的对照组，ASD患者白质中异位灰质的体积测量是否升高。从自闭症脑成像数据交换（ABIDE）开放获取数据库中选择48名患有ASD的儿童/青年和48名年龄和性别匹配的tdc作为主要样本，对数据进行分析，比较各组：(1)高分辨率t1加权研究序列的盲法评价；(2)定量测量相同t1加权扫描计算的白质低密度（WMH）体积。在独立的多位点样本（80个ASD/80个TDC）中重复分组WMH体积比较，也选择自ABIDE。视觉检查结果显示ASD组和TDC组的影像学异常比例相当。然而，定量分析显示ASD患者脑室周围和皮层下深部WMH体积升高。这一发现在独立的、多地点的样本中得到了重复。心室周围WMH体积与年龄无关，但在父母报告和临床评定的评估清单中与更大的限制性重复行为有关。因此，研究结果表明，ASD患者心室周围WMH体积升高，并与较高程度的重复行为和兴趣受限有关。虽然局灶性WMH集群的病因尚不清楚，但没有年龄效应表明它们可能反映了一种静态异常。自闭症患者脑室周围白质低密度（WMH）体积升高。在独立样本中观察到asd相关的WMH体积升高。在儿童/年轻人中，WMH体积不随年龄变化。心室周围WMH体积与限制性重复行为有关。
Malformations of cortical development are found at higher rates in autism spectrum disorder (ASD) than in healthy controls on postmortem neuropathological evaluation but are more variably observed on visual review of in-vivo MRI brain scans. This may be due to the visually elusive nature of many malformations on MRI. Here, we utilize a quantitative approach to determine whether a volumetric measure of heterotopic gray matter in the white matter is elevated in people with ASD, relative to typically developing controls (TDC). Data from a primary sample of 48 children/young adults with ASD and 48 age-, and gender-matched TDCs, selected from the Autism Brain Imaging Data Exchange (ABIDE) open-access database, were analyzed to compare groups on (1) blinded review of high-resolution T1-weighted research sequences; and (2) quantitative measurement of white matter hypointensity (WMH) volume calculated from the same T1-weighted scans. Groupwise WMH volume comparisons were repeated in an independent, multi-site sample (80 ASD/80 TDC), also selected from ABIDE. Visual review resulted in equivalent proportions of imaging abnormalities in the ASD and TDC group. However, quantitative analysis revealed elevated periventricular and deep subcortical WMH volumes in ASD. This finding was replicated in the independent, multi-site sample. Periventricular WMH volume was not associated with age but was associated with greater restricted repetitive behaviors on both parent-reported and clinician-rated assessment inventories. Thus, findings demonstrate that periventricular WMH volume is elevated in ASD and associated with a higher degree of repetitive behaviors and restricted interests. Although the etiology of focal WMH clusters is unknown, the absence of age effects suggests that they may reflect a static anomaly. Periventricular white matter hypointensity (WMH) volume is elevated in autism. ASD-associated WMH volume elevations were observed in independent samples. WMH volume does not change with age in children/young adults. Periventricular WMH volume is associated with restricted repetitive behavior.