Purpose

Neurofibromatosis type 1 (NF1) is a rare monogenic disorder associated with executive function (EF) deficits and heightened risk for attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). The goal of this paper is to understand how EFs provide a common foundation to understand vulnerabilities for ADHD and ASD within NF1.

Methods

A literature review and synthesis was conducted.

Results

EF difficulties in working memory, inhibitory control, cognitive flexibility, and planning are evident in NF1, ADHD, and ASD. However, relatively little is known about the heterogeneity of EFs and ADHD and ASD outcomes in NF1. Assessment of ADHD and ASD in NF1 is based on behavioral symptoms without understanding neurobiological contributions. Recent efforts are promoting the use of dimensional and multidisciplinary methods to better understand normal and abnormal behavior, including integrating information from genetics to self-report measures.

Conclusion

NF1 is a monogenic disease with well-developed molecular and phenotypic research as well as complementary animal models. NF1 presents an excellent opportunity to advance our understanding of the neurobiological impact of known pathogenic variation in normal and abnormal neural pathways implicated in human psychopathology. EFs are core features of NF1, ADHD, and ASD, and these neurodevelopmental outcomes are highly prevalent in NF1. We propose a multilevel approach for understanding EFs in patients with NF1.This is essential to advance targeted interventions for NF1 patients and to advance the exciting field of research in this condition.

中文翻译：

---

1型神经纤维瘤病的执行功能观点：从多动症和自闭症谱系障碍到研究领域。

目的

1 型神经纤维瘤病 (NF1) 是一种罕见的单基因疾病，与执行功能 (EF) 缺陷和注意力缺陷/多动障碍 (ADHD) 和自闭症谱系障碍 (ASD) 的风险增加有关。本文的目的是了解 EF 如何为了解 NF1 中的 ADHD 和 ASD 漏洞提供通用基础。

方法

进行了文献回顾和综合。

结果

工作记忆、抑制控制、认知灵活性和计划的 EF 困难在 NF1、ADHD 和 ASD 中很明显。然而，关于 NF1 中 EF 和 ADHD 和 ASD 结果的异质性知之甚少。NF1 中 ADHD 和 ASD 的评估是基于行为症状而不了解神经生物学的贡献。最近的努力正在促进使用维度和多学科方法来更好地了解正常和异常行为，包括将来自遗传学的信息整合到自我报告测量中。

结论

NF1 是一种单基因疾病，具有成熟的分子和表型研究以及互补的动物模型。NF1 提供了一个极好的机会，可以促进我们对与人类精神病理学有关的正常和异常神经通路中已知致病变异的神经生物学影响的理解。EFs 是 NF1、ADHD 和 ASD 的核心特征，这些神经发育结果在 NF1 中非常普遍。我们提出了一种多层次的方法来了解 NF1 患者的 EF。这对于推进针对 NF1 患者的有针对性的干预措施以及在这种情况下推进令人兴奋的研究领域至关重要。