ABSTRACT

Introduction: Executive functions (EFs) impairment is common in children with neurofibromatosis type 1 (NF1), and could be a significant vulnerability associated with this medical disorder. However, we still know little about EFs in preschool NF1. Our study assessed EFs in NF1 children using performance-based tests and daily life questionnaires, which combined the views of parents and teachers.

Method: Seven classic experimental tasks were used to evaluate EFs in 33 NF1 children aged 3 to 5 years old, and BRIEF-P questionnaires were completed by their parents and teachers. These children’s performance was compared with a control group of 52 healthy children matched in age, gender and socio-cultural status.

Results: NF1 children have significantly lower scores for 5 out of 7 executive tasks than control children and significantly higher levels of EF concerns in the parent and teacher BRIEF-P ratings. The correlations between performance-based tests and questionnaires are weak.

Conclusions: Our results support an early executive dysfunction in NF1 children and call for early and systematic assessment of EFs. Both performance-based tests and questionnaires are complementary tools to investigate early EFs dysfunction in children with NF1.

摘要

简介：执行功能 (EFs) 受损在 1 型神经纤维瘤病 (NF1) 儿童中很常见，并且可能是与这种医学疾病相关的一个重要漏洞。然而，我们对学龄前 NF1 中的 EFs 仍然知之甚少。我们的研究使用基于表现的测试和日常生活问卷评估了 NF1 儿童的 EF，这些问卷结合了父母和老师的观点。

方法：采用7个经典实验任务对33名3～5岁NF1儿童的EF进行评估，由家长和老师完成BRIEF-P问卷。将这些儿童的表现与年龄、性别和社会文化地位相匹配的 52 名健康儿童的对照组进行比较。

结果： NF1 儿童在 7 项执行任务中的 5 项得分显着低于对照组儿童，而在家长和教师的 BRIEF-P 评分中，EF 问题的水平显着更高。基于绩效的测试和问卷之间的相关性很弱。

结论：我们的结果支持 NF1 儿童的早期执行功能障碍，并呼吁对 EF 进行早期和系统的评估。基于表现的测试和问卷都是调查 NF1 儿童早期 EF 功能障碍的补充工具。