Children and adolescents with velocardiofacial syndrome: A volumetric MRI study
Children and adolescents with velocardiofacial syndrome: A volumetric MRI study
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DOI：
10.1176/appi.ajp.157.3.409
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发表时间：
2000-03-01
影响因子：
17.7
通讯作者：
Reiss, AL
中科院分区：
文献类型：
--
作者：
Eliez, S;Schmitt, JE;Reiss, AL
目的：心面疾速综合征是一种常见的遗传性疾病，常伴有轻度认知障碍。患有速心面综合征的儿童和青少年在成年后发生严重神经精神疾病的风险也更高，尤其是精神分裂症样疾病。本初步研究的目的是：(1)通过脑成像阐明速度心面综合征认知和神经精神问题的神经生物学基础；(2)考虑速度心面综合征受试者神经解剖学变异与相关神经行为表型之间的关系。方法：对15例心面疾速综合征的儿童和青少年进行年龄、性别匹配，并进行15例对照。对高分辨率磁共振成像扫描进行分析，以提供特定脑组织和区域的定量测量。采用非盲形态计量学分析检测了四叶和小脑的组织体积。结果：心面疾速综合征患儿的总脑容量约小11%。灰质体积减少的程度（7.5%）小于白质体积（16.3%）。多变量方差分析显示，心面疾动综合征患儿具有明显的区域形态学差异。具体来说，相对于脑容量的整体减少，额叶组织倾向于扩大。心面疾速综合征组顶叶组织的正常对称性在对照组中未见明显。这种对称性的丧失是由于左侧顶叶的灰质显著减少。结论：脑形态异常与心面速度综合征有关。这些变化可能与与该综合征相关的语言和学习缺陷有关，并可能提供与精神分裂症相关的神经发育途径的线索。
Objective: Velocardiofacial syndrome is a common genetic condition often accompanied by mild cognitive impairment. Children and adolescents with velocardiofacial syndrome also are at greater risk for developing serious neuropsychiatric disorders in adulthood, particularly schizophrenia-like disorders. The purpose of this preliminary study was to 1) elucidate through brain imaging the neurobiological basis of cognitive and neuropsychiatric problems in velocardiofacial syndrome, and 2) consider the association between variations in neuroanatomy in velocardiofacial syndrome subjects and the associated neurobehavioral phenotype. Method: Fifteen children and adolescents with velocardiofacial syndrome were matched by age and gender with 15 comparison subjects. High-resolution magnetic resonance imaging scans were analyzed to provide quantitative measures of specified brain tissues and regions. Rater-blind morphometric analyses were conducted to examine tissue volumes of the four lobes and the cerebellum. Results: Total brain volume was approximately 11% smaller in the children with velocardiofacial syndrome. Gray matter volume was reduced to a lesser extent (7.5%) than white matter volume (16.3%). Multivariate analyses of Variance indicated a distinct pattern of regional morphological variation among the children with velocardiofacial syndrome. Specifically, frontal lobe tissue tended to be enlarged relative to the overall reduction in brain volume. Normal symmetry of parietal lobe tissue observed in the comparison group was not evident in the velocardiofacial syndrome group. This loss of symmetry was attributable to a significant reduction of gray matter in the left parietal robe. Conclusions: Aberrant brain morphology is associated with velocardiofacial syndrome. These changes are potentially related to the language and learning deficits associated with the syndrome and may provide clues about neurodevelopmental pathways associated with schizophrenia.