Department of Pediatrics, University of Tennessee Health Sciences Center, Memphis, TN.
Le Bonheur Children's Hospital and Boling Center for Developmental Disabilities, Memphis, TN.
J Neuroimaging. 2019 Jul;29(4):506-511. doi: 10.1111/jon.12628. Epub 2019 May 6.
Tuberous sclerosis complex (TSC) is a rare, genetic disease that is associated with multiple manifestations including epilepsy and autism. Self-injurious behaviors (SIBs) also occur in a subset of patients. This study used diffusion tensor imaging (DTI) in children with TSC for quantitative and volumetric analysis of brain regions that have been associated with SIB in other genetic conditions.
We used DTI to compare 6 children with TSC-associated SIB and 10 children with TSC without SIB. Atlas-based analysis of DTI data and calculation of number of voxels; fractional anisotropy (FA); and mean, axial, and radial diffusivity were performed for multiple regions; DTI measures were summarized using medians and interquartile ranges and were compared using Wilcoxon rank sum tests and false discovery rates (FDRs).
Analysis showed that children with TSC and SIB had reduced numbers of voxels (median) in the bilateral globus pallidus (right: 218 vs. 260, P = .008, FDR = .18; left: 222 vs. 274, P = .002, FDR = .12) and caudate nucleus (right: 712 vs. 896, P = .01, FDR = .26; left: 702 vs. 921, P = .03, FDR = .44) and reduced FA in the bilateral globus pallidus (right: .233 vs. .272, P = .003, FDR = .12; left: .223 vs. .247, P = .004, FDR = .12) and left caudate nucleus (.162 vs. .186, P = .03, FDR = .39) versus children without SIB. No other statistically significant differences were found.
These data support a correlation between lower volumes of the globus pallidus and caudate with SIB in children with TSC.
结节性硬化症（TSC）是一种罕见的遗传性疾病，与多种表现有关，包括癫痫和自闭症。在一部分患者中也会出现自伤行为（SIB）。本研究使用扩散张量成像（DTI）对伴有 SIB 的 TSC 患儿进行脑区的定量和容积分析，这些脑区与其他遗传疾病中的 SIB 有关。
我们使用 DTI 比较了 6 例伴有 TSC 相关 SIB 的患儿和 10 例无 SIB 的 TSC 患儿。对 DTI 数据进行基于图谱的分析和体素计数，计算各向异性分数（FA）、平均、轴向和径向弥散度；使用中位数和四分位间距总结 DTI 测量值，并使用 Wilcoxon 秩和检验和错误发现率（FDR）进行比较。
分析显示，伴有 SIB 的 TSC 患儿双侧苍白球（右侧：218 个 vs. 260 个，P =.008，FDR =.18；左侧：222 个 vs. 274 个，P =.002，FDR =.12）和尾状核（右侧：712 个 vs. 896 个，P =.01，FDR =.26；左侧：702 个 vs. 921 个，P =.03，FDR =.44）的体素数量减少，双侧苍白球（右侧：FA.233 比.272，P =.003，FDR =.12；左侧：FA.223 比.247，P =.004，FDR =.12）和左侧尾状核（FA.162 比.186，P =.03，FDR =.39）的 FA 值降低，与无 SIB 的患儿相比。未发现其他具有统计学意义的差异。
这些数据支持 TSC 患儿苍白球和尾状核体积较小与 SIB 之间存在相关性。
