Fetal-Neonatal Neuroimaging & Developmental Science Center, Boston Children's Hospital, Harvard Medical School, 1 Autumn St, Boston, MA, 02215, USA.
Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.
Brain Imaging Behav. 2019 Apr;13(2):430-445. doi: 10.1007/s11682-018-9859-3.
Copy number variants at the chromosomal locus 16p11.2 contribute to neurodevelopmental disorders such as autism spectrum disorders, epilepsy, schizophrenia, and language and articulation disorders. Here, we provide detailed findings on the disrupted structural brain connectivity in 16p11.2 deletion syndrome (patients: N = 21, age range: 8-16 years; typically developing (TD) controls: 18, 9-16 years) using structural and diffusion MRI. We performed global short-, middle-, long-range, and interhemispheric connectivity analysis in the whole brain using gyral topology-based cortical parcellation. Using region of interest analysis, we studied bilateral dorsal (3 segments of arcuate fasciculus (AF)) and ventral (inferior fronto-occipital fasciculus (IFOF), inferior longitudinal fasciculus (ILF), uncinate fasciculus (UF)) language pathways. Our results showed significantly increased axial (AD) and radial (RD) diffusivities in bilateral anterior AF, decreased volume for left long AF, increased mean diffusivity (MD) and RD for right long AF, and increased AD for bilateral UF in the 16p11.2 deletion group in the absence of significant abnormalities in the whole-brain gyral and interhemispheric connectivity. The selective involvement of the language networks may aid in understanding effects of altered white matter connectivity on neurodevelopmental outcomes in 16p11.2 deletion.
16p11.2 染色体位置上的拷贝数变异与神经发育障碍有关，如自闭症谱系障碍、癫痫、精神分裂症以及语言和发音障碍。在这里，我们使用结构和弥散 MRI 提供了 16p11.2 缺失综合征（患者：N=21，年龄范围：8-16 岁；典型发育（TD）对照组：18，9-16 岁）患者大脑结构连接中断的详细发现。我们使用基于脑回拓扑的皮质分割在全脑进行了全局短、中、长距离和半球间连接分析。使用感兴趣区分析，我们研究了双侧背侧（3 个弓状束（AF）段）和腹侧（下额枕束（IFOF）、下纵束（ILF）、钩束（UF））语言通路。我们的结果显示，16p11.2 缺失组双侧前 AF 的轴向（AD）和径向（RD）扩散率显著增加，左长 AF 的体积减小，右长 AF 的平均扩散率（MD）和 RD 增加，双侧 UF 的 AD 增加，而全脑脑回和半球间连接无明显异常。语言网络的选择性参与可能有助于理解白质连接改变对 16p11.2 缺失神经发育结局的影响。
