Green Tamar, Naylor Paige E, Davies William
Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, Stanford, USA.
Department of Clinical Psychology, Palo Alto University, Palo Alto, CA USA.
J Neurodev Disord. 2017 Jul 10;9:25. doi: 10.1186/s11689-017-9205-x. eCollection 2017.
ADHD (attention deficit hyperactivity disorder) is a common neurodevelopmental disorder. There has been extensive clinical and basic research in the field of ADHD over the past 20 years, but the mechanisms underlying ADHD risk are multifactorial, complex and heterogeneous and, as yet, are poorly defined. In this review, we argue that one approach to address this challenge is to study well-defined disorders to provide insights into potential biological pathways that may be involved in idiopathic ADHD.
To address this premise, we selected two neurogenetic conditions that are associated with significantly increased ADHD risk: Turner syndrome and the RASopathies (of which Noonan syndrome and neurofibromatosis type 1 are the best-defined with regard to ADHD-related phenotypes). These syndromes were chosen for two main reasons: first, because intellectual functioning is relatively preserved, and second, because they are strikingly phenotypically similar but are etiologically distinct. We review the cognitive, behavioural, neural and cellular phenotypes associated with these conditions and examine their relevance as a model for idiopathic ADHD.
We conclude by discussing current and future opportunities in the clinical and basic research of these conditions, which, in turn, may shed light upon the biological pathways underlying idiopathic ADHD.
注意缺陷多动障碍（ADHD）是一种常见的神经发育障碍。在过去20年里，ADHD领域已经开展了广泛的临床和基础研究，但ADHD风险背后的机制是多因素的、复杂且异质性的，目前仍未明确界定。在本综述中，我们认为应对这一挑战的一种方法是研究明确界定的疾病，以深入了解可能与特发性ADHD相关的潜在生物学途径。
为了验证这一前提，我们选择了两种与ADHD风险显著增加相关的神经遗传疾病：特纳综合征和RAS病（就ADHD相关表型而言，努南综合征和1型神经纤维瘤病是其中定义最明确的）。选择这些综合征主要有两个原因：第一，因为智力功能相对保留；第二，因为它们在表型上极为相似，但病因不同。我们回顾了与这些疾病相关的认知、行为、神经和细胞表型，并探讨它们作为特发性ADHD模型的相关性。
我们通过讨论这些疾病在临床和基础研究中的当前及未来机遇来得出结论，而这些机遇反过来可能会揭示特发性ADHD背后的生物学途径。
