Pediatric Neurology Department, Amiens-Picardie University Hospital, 1 rue du Professeur Christian Cabrol, 80054, Amiens Cedex, France; INSERM UMR 1105, Research Group on Multimodal Analysis of Brain Function, University of Picardie Jules Verne, rue René Laennec, 80054, Amiens, Cedex, France; Pediatric Neurophysiology Unit, Amiens-Picardie University Hospital, 1 rue du Professeur Christian Cabrol, 80054, Amiens Cedex, France.
Pediatric Neurology Department, Amiens-Picardie University Hospital, 1 rue du Professeur Christian Cabrol, 80054, Amiens Cedex, France; INSERM UMR 1105, Research Group on Multimodal Analysis of Brain Function, University of Picardie Jules Verne, rue René Laennec, 80054, Amiens, Cedex, France.
Eur J Paediatr Neurol. 2024 Jul;51:93-99. doi: 10.1016/j.ejpn.2024.05.016. Epub 2024 Jun 1.
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.
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.
(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.
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.
注意力和执行功能障碍是神经纤维瘤病 1 型（NF1）中最常见的认知障碍，注意力缺陷多动障碍（ADHD）的患病率很高。我们（i）比较了 NF1 患儿与 ADHD 患儿和符合 ADHD 主要标准的患儿的注意力特征；（ii）研究了 NF1 中注意力障碍与“未识别的明亮物体”（UBO）之间的可能关系。
这项回顾性研究包括 47 名 NF1 患儿，其中 25 名符合 ADHD 标准（NF1+adhd 组），并按年龄、性别和认知水平与 47 名符合 ADHD 主要标准的患儿（ADHD 组）相匹配。我们收集了计算机任务（持续注意力、视动决策、抑制和认知灵活性任务）的年龄和性别标准化分数，以及脑磁共振成像数据。
（i）所有组的工作记忆均受损。（ii）在持续注意力和视动决策任务中，遗漏（p<0.002）和反应时变异性（p<0.05），以及在认知灵活性任务中错误（p<0.02），NF1+adhd 组和 ADHD 组均低于 NF1-无-adhd 组。（iii）NF1+adhd 组在抑制和视动决策任务中的反应时间较慢（p≤0.02），低于其他两组。（iv）我们没有发现认知表现与 UBO 之间的相关关系。
患有 ADHD 的 NF1 患儿的注意力和执行功能缺陷与原发性 ADHD 患儿相似，但反应时间较慢，学习困难增加。NF1 中观察到的额纹状体通路的异常连接、多巴胺稳态较差和 GABA 抑制增加，使广泛分布的支持注意力、工作记忆和执行功能的神经网络容易受到影响。
