Fetal-Neonatal Neuroimaging and Developmental Science Center, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
J Autism Dev Disord. 2024 Aug;54(8):3155-3175. doi: 10.1007/s10803-023-06004-8. Epub 2023 May 24.
A significant number of individuals with tuberous sclerosis complex (TSC) exhibit language difficulties. Here, we examined the language-related brain morphometry in 59 participants (7 participants with TSC and comorbid autism spectrum disorder (ASD) (TSC + ASD), 13 with TSC but no ASD (TSC-ASD), 10 with ASD-only (ASD), and 29 typically developing (TD) controls). A hemispheric asymmetry was noted in surface area and gray matter volume of several cortical language areas in TD, ASD, and TSC-ASD groups, but not in TSC + ASD group. TSC + ASD group demonstrated increased cortical thickness and curvature values in multiple language regions for both hemispheres, compared to other groups. After controlling for tuber load in the TSC groups, within-group differences stayed the same but the differences between TSC-ASD and TSC + ASD were no longer statistically significant. These preliminary findings suggest that comorbid ASD in TSC as well as tuber load in TSC is associated with changes in the morphometry of language regions. Future studies with larger sample sizes will be needed to confirm these findings.
相当数量的结节性硬化症（TSC）患者存在语言障碍。在这里，我们检查了 59 名参与者的语言相关脑形态计量学，其中 7 名患有 TSC 合并自闭症谱系障碍（ASD）（TSC+ASD），13 名患有 TSC 但无 ASD（TSC-ASD），10 名患有 ASD（ASD），29 名发育正常（TD）对照组。在 TD、ASD 和 TSC-ASD 组中，几个皮质语言区的表面积和灰质体积存在半球不对称性，但在 TSC+ASD 组中没有。与其他组相比，TSC+ASD 组的双侧多个语言区的皮质厚度和曲率值均增加。在 TSC 组中控制结节负荷后，组内差异保持不变，但 TSC-ASD 和 TSC+ASD 之间的差异不再具有统计学意义。这些初步发现表明，TSC 合并 ASD 以及 TSC 中的结节负荷与语言区域形态计量学的变化有关。需要更大样本量的未来研究来证实这些发现。
