Department of Neuroimaging, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, UK; Department of Perinatal Imaging and Health, School of Biomedical Engineering & Imaging Sciences, King's College London, UK.
Department of Psychology, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, UK.
Neuroimage Clin. 2022;36:103163. doi: 10.1016/j.nicl.2022.103163. Epub 2022 Aug 25.
Tuberous sclerosis complex is a rare genetic multisystem condition that is associated with a high prevalence of neurodevelopmental disorders such as autism and attention-deficit/hyperactivity disorder. The underlying neural mechanisms of the emergence of these symptom domains in tuberous sclerosis complex remain unclear. Here, we use fixel-based analysis of diffusion-weighted imaging, which allows for the differentiation between multiple fibre populations within a voxel, to compare white matter properties in 16 participants with tuberous sclerosis complex (aged 11-19) and 12 age and sex matched control participants. We further tested associations between white matter alterations and autism and inattention symptoms as well as cognitive ability in participants with tuberous sclerosis complex. Compared to controls, participants with tuberous sclerosis complex showed reduced fibre density cross-section (FDC) in the dorsal branch of right superior longitudinal fasciculus and bilateral inferior longitudinal fasciculus, reduced fibre density (FD) in bilateral tapetum, and reduced fibre cross-section (FC) in the ventral branch of right superior longitudinal fasciculus. In participants with tuberous sclerosis complex, the extent of FDC reductions in right superior longitudinal fasciculus was significantly associated with autism traits (social communication difficulties and restricted, repetitive behaviours), whereas FDC reductions in right inferior longitudinal fasciculus were associated with inattention. The observed white matter alterations were unrelated to cognitive ability. Our findings shed light on the fibre-specific biophysical properties of white matter alterations in tuberous sclerosis complex and suggest that these regional changes are selectively associated with the severity of neurodevelopmental symptoms.
结节性硬化症是一种罕见的遗传多系统疾病，与自闭症和注意缺陷多动障碍等神经发育障碍的高患病率有关。结节性硬化症中这些症状领域出现的潜在神经机制仍不清楚。在这里，我们使用基于固定体素的弥散加权成像分析，允许在体素内区分多个纤维群体，比较 16 名结节性硬化症患者（年龄 11-19 岁）和 12 名年龄和性别匹配的对照组参与者的白质特性。我们进一步测试了结节性硬化症患者白质改变与自闭症和注意力不集中症状以及认知能力之间的关联。与对照组相比，结节性硬化症患者右侧上纵束背侧分支和双侧下纵束的纤维密度横截面积（FDC）降低，双侧毯部的纤维密度（FD）降低，右侧上纵束腹侧分支的纤维横截面积（FC）降低。在结节性硬化症患者中，右侧上纵束 FDC 减少的程度与自闭症特征（社交沟通困难和受限、重复行为）显著相关，而右侧下纵束 FDC 减少与注意力不集中有关。观察到的白质改变与认知能力无关。我们的发现揭示了结节性硬化症中白质改变的纤维特异性生物物理特性，并表明这些区域性变化与神经发育症状的严重程度选择性相关。
