Eliez S, Schmitt J E, White C D, Reiss A L
Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, CA 94305-5719, USA.
Am J Psychiatry. 2000 Mar;157(3):409-15. doi: 10.1176/appi.ajp.157.3.409.
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.
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.
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 lobe.
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.
腭心面综合征是一种常见的遗传性疾病，常伴有轻度认知障碍。患有腭心面综合征的儿童和青少年成年后患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。这项初步研究的目的是：1）通过脑成像阐明腭心面综合征认知和神经精神问题的神经生物学基础；2）探讨腭心面综合征患者神经解剖结构变异与相关神经行为表型之间的关联。
15名患有腭心面综合征的儿童和青少年按年龄和性别与15名对照受试者进行匹配。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。进行评分者盲态形态学分析，以检查四个脑叶和小脑的组织体积。
腭心面综合征患儿的全脑体积约小11%。灰质体积减少程度（7.5%）小于白质体积（16.3%）。多变量方差分析表明，腭心面综合征患儿存在独特的区域形态变异模式。具体而言，相对于脑体积的总体减少，额叶组织趋于增大。对照组中观察到的顶叶组织正常对称性在腭心面综合征组中不明显。这种对称性丧失归因于左侧顶叶灰质的显著减少。
异常的脑形态与腭心面综合征相关。这些变化可能与该综合征相关的语言和学习缺陷有关，并可能为与精神分裂症相关的神经发育途径提供线索。
