Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study
Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study
复制标题
DOI：
10.1093/brain/awl066
复制
发表时间：
2006-05-01
期刊：
影响因子：
14.5
通讯作者：
Murphy, KC
中科院分区：
文献类型：
--
作者：
Campbell, LE;Daly, E;Murphy, KC
在患有腭心面综合征[或22q11.2缺失综合征（22 qDS）]的人中，染色体22q11.2的单个间质缺失会导致广泛的认知缺陷，从整体学习困难到特定的认知缺陷。患有22 qDS的人也有很高的风险在儿童时期患上注意力缺陷/多动障碍和自闭症谱系障碍，在青春期或成年期患上精神分裂症。然而，22 qDS的神经生物学，以及大脑解剖和行为异常之间的关系，知之甚少。因此，我们研究了22 qDS儿童使用全自动体素为基础的形态学（VBM）和手动跟踪单个区域的兴趣（ROI）分析的神经解剖。此外，我们还调查了组间差异显著的大脑区域是否与22 qDS儿童的行为差异有关。我们比较了39名22 qDS儿童和青少年（平均年龄：11岁，SD +/- 3，IQ = 67，SD +/- 10）和26名同胞对照（平均年龄：11岁，SD +/- 3，IQ = 102，SD +/- 12）的脑形态测量学。使用VBM，我们发现，在校正智商后，与对照组相比，22 qDS的个体小脑灰质显著减少，额叶、小脑和内囊的白色物质减少。使用单一ROI分析，我们发现22 qDS患者双侧枕顶叶体积显著减少（P < 0.05），但右侧尾状核和侧脑室较大。此外，在22 qDS患者中，以下严重程度之间存在显著正相关：（i）颞枕区和纹状体的脑型评分和灰质体积;（ii）情绪问题和额纹状体区的灰质体积;（iii）社交行为困难和额纹状体区的灰质。因此，具有22 qDS的受试者在脑解剖结构中具有广泛的变化，特别是影响白色物质、基底神经节和小脑。此外，在22 qDS内，大脑发育的区域特异性差异可能部分地支持行为差异。我们认为，有初步证据表明，特定的脆弱性额纹状体和小脑皮质网络在22 qDS。
In people with velo-cardio-facial syndrome [or 22q11.2 deletion syndrome (22qDS)], a single interstitial deletion of chromosome 22q11.2 causes a wide spectrum of cognitive deficits ranging from global learning difficulties to specific cognitive deficits. People with 22qDS are also at high risk of developing attention-deficit/hyperactivity disorder and autism spectrum disorders in childhood, and schizophrenia in adolescence or adult life. However, the neurobiology of 22qDS, and the relationship between abnormalities in brain anatomy and behaviour, is poorly understood. Thus, we studied the neuroanatomy of 22qDS children using fully automated voxel-based morphometry (VBM) and manually traced single region-of-interest (ROI) analysis. Also, we investigated whether those brain regions that differed significantly between groups were related to behavioural differences within children with 22qDS. We compared the brain morphometry of 39 children and adolescents with 22qDS (mean age: 11 years, SD +/- 3, IQ = 67, SD +/- 10) and 26 sibling controls (mean age: 11 years, SD +/- 3, IQ = 102, SD +/- 12). Using VBM, we found, after correction for IQ, that individuals with 22qDS compared with controls had a significant reduction in cerebellar grey matter, and white matter reductions in the frontal lobe, cerebellum and internal capsule. Using single ROI analysis, we found that people with 22qDS had a significant (P < 0.05) reduction in bulk volume bilaterally in the occipital-parietal lobes, but a larger right caudate nucleus and lateral ventricles. Further, within people with 22qDS, there was a significant positive correlation between severity of (i) schizotypy score and grey matter volume of the temporo-occipital regions and the corpus striatum; (ii) emotional problems and grey matter volume of frontostriatal regions; and (iii) social behavioural difficulties and grey matter in frontostriatal regions. Thus, subjects with 22qDS have widespread changes in brain anatomy, particularly affecting white matter, basal ganglia and cerebellum. Also, within 22qDS, regionally specific differences in brain development may partially underpin behavioural differences. We suggest that there is preliminary evidence for specific vulnerability of the frontostriatal and cerebellar-cortical networks in 22qDS.