Department of Psychology, University of Montreal, Marie Victorin Building, 90 Vincent-D'Indy Avenue, Montreal, Quebec, H2V 2S9, Canada.
CHU Sainte-Justine Research Center, 3175 Côte Ste-Catherine, Montreal, QC, H3T 1C5, Canada.
J Neurodev Disord. 2022 Jul 22;14(1):42. doi: 10.1186/s11689-022-09452-y.
Neurofibromatosis type 1 (NF1) is a genetic disorder often associated with cognitive dysfunctions, including a high occurrence of deficits in visuoperceptual skills. The neural underpinnings of these visuoperceptual deficits are not fully understood. We used steady-state visual evoked potentials (SSVEPs) to investigate possible alterations in the synchronization of neural activity in the occipital cortex of children with NF1.
SSVEPs were measured using electroencephalography and compared between children with NF1 (n = 28) and neurotypical controls (n = 28) aged between 4 and 13 years old. SSVEPs were recorded during visual stimulation with coloured icons flickering at three different frequencies (6 Hz, 10 Hz, and 15 Hz) and analyzed in terms of signal-to-noise ratios. A mixed design ANCOVA was performed to compare SSVEP responses between groups at the three stimulation frequencies. Pearson's correlations with levels of intellectual functioning as well as with symptoms of ADHD, ASD and emotional/behavioral problems were performed. The impact of psychostimulant medication on the SSVEP responses was analyzed in a subset of the NF1 group (n = 8) with paired t-tests.
We observed reduced signal-to-noise ratios of the SSVEP responses in children with NF1. The SSVEP responses were negatively correlated with symptoms of inattention and with symptoms of emotional/behavioral problems in the NF1 group. The SSVEP response generated by the lowest stimulation frequency (i.e., 6 Hz) was rescued with the intake of psychostimulant medication.
Impaired processing of rhythmic visual stimulation was evidenced in children with NF1 through measures of SSVEP responses. Those responses seem to be more reduced in children with NF1 who exhibit more symptoms of inattention and emotional/behavioral problems in their daily life. SSVEPs are potentially sensitive electrophysiological markers that could be included in future studies investigating the impact of medication on brain activity and cognitive functioning in children with NF1.
神经纤维瘤病 1 型（NF1）是一种常伴有认知功能障碍的遗传疾病，包括视知觉技能缺陷的高发。这些视知觉缺陷的神经基础尚未完全清楚。我们使用稳态视觉诱发电位（SSVEP）来研究 NF1 患儿枕叶皮层神经活动同步性的可能改变。
通过脑电图测量 SSVEP，并将 NF1 患儿（n=28）与神经典型对照组（n=28）进行比较，年龄在 4 至 13 岁之间。在彩色图标闪烁的三种不同频率（6Hz、10Hz 和 15Hz）下进行视觉刺激，记录 SSVEP，并根据信噪比进行分析。采用混合设计方差分析比较三组刺激频率下的 SSVEP 反应。对 NF1 组的智力水平及 ADHD、ASD 和情绪/行为问题的症状进行了 Pearson 相关性分析。对 NF1 组的一个亚组（n=8）进行了配对 t 检验，分析了精神兴奋剂药物对 SSVEP 反应的影响。
我们观察到 NF1 患儿 SSVEP 反应的信噪比降低。NF1 组 SSVEP 反应与注意力不集中症状及情绪/行为问题症状呈负相关。最低刺激频率（即 6Hz）的 SSVEP 反应随着精神兴奋剂药物的摄入而恢复。
通过 SSVEP 反应的测量，NF1 患儿的节律性视觉刺激处理受损。在 NF1 患儿中，那些在日常生活中表现出更多注意力不集中和情绪/行为问题症状的患儿，SSVEP 反应似乎更为降低。SSVEP 是一种潜在的敏感电生理标志物，可纳入未来研究，以调查 NF1 患儿药物对大脑活动和认知功能的影响。
