Abnormal auditory and language pathways in children with 16p11.2 deletion.
Abnormal auditory and language pathways in children with 16p11.2 deletion.
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DOI：
10.1016/j.nicl.2015.07.006
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Roberts TP
中科院分区：
文献类型：
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作者：
Berman JI;Chudnovskaya D;Blaskey L;Kuschner E;Mukherjee P;Buckner R;Nagarajan S;Chung WK;Spiro JE;Sherr EH;Roberts TP
染色体16p11.2的拷贝数变异有助于神经发育障碍，包括自闭症谱系障碍（ASD）。这项研究旨在提高我们对ASD常见行为表型的生物学基础的理解，特别是在16p11.2 BP 4-BP 5缺失的儿童中观察到的口头语言的突出和普遍中断。我们在一组36名儿童缺失携带者和45名年龄匹配的对照者中，用弥散MRI检查了听觉和语言白色物质通路。进行听觉辐射和弓状束的扩散MR纤维束成像，以产生白色物质微观结构的束特异性测量。在这两个道，删除载体表现出显着更高的扩散比对照组。在这些管道中的横截面扩散参数随年龄而变化，成熟率无组间差异。在缺失携带者中，左半球弓状束平均和径向扩散率与临床语言能力呈显著负相关，但与非语言认知能力无关。右半球弓状神经束的扩散指标不能预测语言能力。这些结果提供了深入了解16p11.2缺失，异常的听觉和语言通路结构，以及可能导致神经发育障碍（如ASD）的特定行为缺陷之间的联系。我们检查了16 p11.2 BP 4-BP 5缺失儿童的听觉和语言白色物质束。听觉辐射和弓状束的扩散性增强。缺失携带者的弓状束微结构与语言能力相关。16p11.2缺失携带者的脑结构与行为表型存在相关性。
Copy number variations at chromosome 16p11.2 contribute to neurodevelopmental disorders, including autism spectrum disorder (ASD). This study seeks to improve our understanding of the biological basis of behavioral phenotypes common in ASD, in particular the prominent and prevalent disruption of spoken language seen in children with the 16p11.2 BP4–BP5 deletion. We examined the auditory and language white matter pathways with diffusion MRI in a cohort of 36 pediatric deletion carriers and 45 age-matched controls. Diffusion MR tractography of the auditory radiations and the arcuate fasciculus was performed to generate tract specific measures of white matter microstructure. In both tracts, deletion carriers exhibited significantly higher diffusivity than that of controls. Cross-sectional diffusion parameters in these tracts changed with age with no group difference in the rate of maturation. Within deletion carriers, the left-hemisphere arcuate fasciculus mean and radial diffusivities were significantly negatively correlated with clinical language ability, but not non-verbal cognitive ability. Diffusion metrics in the right-hemisphere arcuate fasciculus were not predictive of language ability. These results provide insight into the link between the 16p11.2 deletion, abnormal auditory and language pathway structures, and the specific behavioral deficits that may contribute to neurodevelopmental disorders such as ASD. We examined auditory and language white matter tracts in children with the 16p11.2 BP4–BP5 deletion. Diffusivity was enhanced in auditory radiation and arcuate fasciculus. Arcuate fasciculus microstructure was correlated with language ability in deletion carriers. There are correlations in the brain structure and behavioral phenotype in the 16p11.2 deletion carriers.