Structural Magnetic Resonance Imaging-Based Brain Morphology Study in Infants and Toddlers With Down Syndrome: The Effect of Comorbidities
Structural Magnetic Resonance Imaging-Based Brain Morphology Study in Infants and Toddlers With Down Syndrome: The Effect of Comorbidities
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DOI：
10.1016/j.pediatrneurol.2019.03.015
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发表时间：
2019-11-01
影响因子：
3.8
通讯作者：
Takahashi, Emi
中科院分区：
文献类型：
--
作者：
Shiohama, Tadashi;Levman, Jacob;Takahashi, Emi
背景：唐氏综合征（DS）是最常见的染色体疾病，以智力残疾、多器官异常、全身性肌张力低下和特征性身体特征为特征。ds相关的医学合并症的存在导致了脑形态的改变。本研究的目的是利用结构脑磁共振成像技术评估婴幼儿退行性椎体滑移患者的脑形态特征。方法：使用FreeSurfer软件分析患有21号染色体完全三体的DS患者（n = 20；年龄1.6±0.6[平均标准差）)的脑结构t1加权磁共振图像。将测量结果与60名性别和年龄匹配的神经典型对照组进行比较，采用Cohen's d统计和非配对t检验，并对多重比较进行错误发现率校正，并使用单变量一般线性模型分析ds相关的合并症：先天性心脏病、婴儿痉挛和甲状腺功能减退。结果：我们确定了27个候选测量值，它们具有较大的效应量（绝对d值为0.8），差异具有统计学意义（P < 6.9 x 10(-3)）。其中双侧小脑灰质、右侧小脑白质和脑干体积减少，右侧颞上、右侧吻侧前扣带和左侧吻侧额叶中回皮质异常，与合并症无关。婴儿期退行性椎体滑移组与健康组仅双侧小脑灰质体积和脑干体积存在差异。结论：这些结果表明，小脑灰质和脑干可能是受21号染色体额外拷贝影响的主要区域。(C) 2019 Elsevier Inc.版权所有。
Background: Down syndrome (DS) is the most prevalent chromosomal disorder characterized by intellectual disability, multiple organ anomalies, generalized muscular hypotonia, and characteristic physical features. The presence of DS-associated medical comorbidities has contributed to brain morphologic changes. The aim of this study was to evaluate brain morphologic characteristics during infant and toddler ages in patients with DS using structural brain magnetic resonance imaging.Methods: Structural brain T1-weighted magnetic resonance images from participants with DS with complete chromosome 21 trisomy (n = 20; 1.6 +/- 0.6 [mean standard deviation) years old) were analyzed using FreeSurfer. The measurements were compared with those of 60 gender- and age-matched neurotypical controls by Cohen's d statistic and unpaired t test with false discovery rate correction for multiple comparisons and analyzed using a univariate general linear model with the following DS-associated medical comorbidities: congenital cardiac disease, infantile spasms, and hypothyroidism.Results: We identified 27 candidate measurements with large effect sizes (absolute d > 0.8) and statistically significant differences (P < 6.9 x 10(-3)). Among them were decreased volumes in bilateral cerebellar gray matter and right cerebellar white matter and brainstem and cortical abnormalities in the right superior temporal, right rostral anterior cingulate, and left rostral middle frontal gyrus, independent of comorbid effects. Only bilateral cerebellar gray matter volumes and brainstem volume showed differences between DS and healthy groups during infancy.Conclusion: These results suggest that cerebellar gray matter and brainstem may represent the primary regions affected by the presence of an additional copy of chromosome 21. (C) 2019 Elsevier Inc. All rights reserved.