Bruckert Lisa, Travis Katherine E, Tam Lydia T, Yeom Kristen W, Campen Cynthia J
Department of Neurology, Division of Child Neurology, Palo Alto, CA, United States.
Department of Pediatric, Division of Developmental-Behavioral Pediatrics, Palo Alto, CA, United States.
Front Neurosci. 2025 Apr 9;19:1542957. doi: 10.3389/fnins.2025.1542957. eCollection 2025.
Neurofibromatosis type 1 (NF1) is a genetic condition affecting 1 in 3,000 children, often leading to learning challenges, including deficits in attention, executive function, and working memory. While white matter pathways play a crucial role in these cognitive processes, they are not well-characterized in NF1. In this retrospective cohort study, we used diffusion MRI tractography to examine the microstructure of major white matter pathways in 20 children with NF1 (ages 1-18 years) compared to 20 age- and sex-matched controls. An automated approach was used to identify and extract mean diffusivity (MD) and fractional anisotropy (FA) of eight cerebral white matter pathways bilaterally and the anterior and posterior part of the corpus callosum. Compared to controls, children with NF1 had significantly increased MD and significantly decreased FA in multiple white matter pathways including the anterior thalamic radiation, cingulate, uncinate fasciculus, inferior fronto-occipital fasciculus, arcuate fasciculus, and corticospinal tract. Differences in MD and FA remained significant after controlling for intracranial volume. In addition, MD and FA differences between children with NF1 and controls were greater at younger than older ages. These findings have implications for understanding the etiology of the neurocognitive deficits seen in many children with NF1.
1型神经纤维瘤病（NF1）是一种影响每3000名儿童中就有1名的遗传性疾病，常常导致学习方面的挑战，包括注意力、执行功能和工作记忆方面的缺陷。虽然白质通路在这些认知过程中起着关键作用，但在NF1中它们的特征并不明确。在这项回顾性队列研究中，我们使用扩散磁共振成像纤维束成像技术，对20名NF1儿童（年龄1至18岁）与20名年龄和性别匹配的对照儿童的主要白质通路微观结构进行了检查。采用一种自动化方法双侧识别并提取了八条脑白质通路以及胼胝体前后部的平均扩散率（MD）和分数各向异性（FA）。与对照组相比，NF1儿童在包括丘脑前辐射、扣带、钩束、额枕下束、弓状束和皮质脊髓束在内的多条白质通路中，MD显著增加，FA显著降低。在控制颅内体积后，MD和FA的差异仍然显著。此外，NF1儿童与对照组之间MD和FA的差异在年龄较小的儿童中比年龄较大的儿童中更大。这些发现对于理解许多NF1儿童出现神经认知缺陷的病因具有重要意义。
