目的:注意和执行功能障碍是1型神经纤维瘤病(NF1)中最常见的认知障碍,注意缺陷多动障碍(ADHD)的患病率很高。我们(i)比较了有和没有ADHD的NF1儿童与有主要ADHD标准的儿童之间的注意力状况,并(ii)调查了NF1中注意力障碍与“未识别的明亮物体”(UBO)之间的可能关系。
方法:这项回顾性研究包括47名NF1儿童,25符合ADHD标准(NF1+adhd组),年龄相匹配,性别,47例原发性ADHD儿童(ADHD组)的认知水平。我们收集了计算机任务(持续关注,视觉运动决定,抑制,和认知灵活性任务)按年龄和性别标准化的分数,和脑部磁共振成像数据。
结果:(i)所有组的工作记忆均受损。(ii)NFIadhd和ADHD组的持续注意力和视觉运动决策任务中的遗漏(p<0.002)和响应时间变异性(p<0.05)以及认知灵活性任务中的错误(p<0.02)低于NF1-no-adhd组。(iii)NF1adhd组的抑制和视觉运动决定任务的响应时间(p≤0.02)比其他组慢。(Iv)我们发现认知表现与UBO之间没有相关关联。
结论:NF1患有ADHD的儿童的注意和执行功能缺陷特征与患有原发性ADHD的儿童相似,但是响应时间较慢,增加学习困难。额纹状体通路的非典型连接,较差的多巴胺稳态,在NF1中观察到的GABA抑制增加,使得支持注意力的广泛分布的神经网络的发展变得脆弱,工作记忆,和执行功能。
OBJECTIVE: Attentional and executive dysfunctions are the most frequent cognitive disorders in neurofibromatosis type 1 (NF1), with a high prevalence of attention deficit-hyperactivity disorder (ADHD). We (i) compared attentional profiles between NF1 children with and without ADHD and children with primary ADHD criteria and (ii) investigated the possible relationship between attentional disorders and \"unidentified bright objects\" (UBOs) in NF1.
METHODS: This retrospective study included 47 NF1 children, 25 with ADHD criteria (NF1+adhd group), matched for age, sex, and cognitive level with 47 children with primary ADHD (ADHD group). We collected computer task (sustained-attention, visuomotor-decision, inhibition, and cognitive-flexibility tasks) scores normalized for age and sex, and brain magnetic resonance imaging data.
RESULTS: (i) Working memory was impaired in all groups. (ii) Omissions (p < 0.002) and response-time variability (p < 0.05) in sustained-attention and visuomotor-decision tasks and errors (p < 0.02) in the cognitive-flexibility task were lower for the NFI+adhd and ADHD groups than for the NF1-no-adhd group. (iii) The NF1+adhd group had slower response times (p ≤ 0.02) for inhibition and visuomotor-decision tasks than the other groups. (iv) We found no relevant association between cognitive performance and UBOs.
CONCLUSIONS: NF1 children with ADHD have an attentional and executive functions deficit profile similar to that of children with primary ADHD, but with a slower response-time, increasing learning difficulties. The atypical connectivity of fronto-striatal pathways, poorer dopamine homeostasis, and increased GABA inhibition observed in NF1 renders vulnerable the development of the widely distributed neural networks that support attentional, working-memory, and executive functions.