Comings David E, Chen Thomas J H, Blum Kenneth, Mengucci Julie F, Blum Seth H, Meshkin Brian
Carlsbad Science Foundation, Emeritus Professor City of Hope Medical Center, Duarte, California, USA.
Theor Biol Med Model. 2005 Dec 23;2:50. doi: 10.1186/1742-4682-2-50.
Attention Deficit Hyperactivity Disorder, commonly referred to as ADHD, is a common, complex, predominately genetic but highly treatable disorder, which in its more severe form has such a profound effect on brain function that every aspect of the life of an affected individual may be permanently compromised. Despite the broad base of scientific investigation over the past 50 years supporting this statement, there are still many misconceptions about ADHD. These include believing the disorder does not exist, that all children have symptoms of ADHD, that if it does exist it is grossly over-diagnosed and over-treated, and that the treatment is dangerous and leads to a propensity to drug addiction. Since most misconceptions contain elements of truth, where does the reality lie?
We have reviewed the literature to evaluate some of the claims and counter-claims. The evidence suggests that ADHD is primarily a polygenic disorder involving at least 50 genes, including those encoding enzymes of neurotransmitter metabolism, neurotransmitter transporters and receptors. Because of its polygenic nature, ADHD is often accompanied by other behavioral abnormalities. It is present in adults as well as children, but in itself it does not necessarily impair function in adult life; associated disorders, however, may do so. A range of treatment options is reviewed and the mechanisms responsible for the efficacy of standard drug treatments are considered.
The genes so far implicated in ADHD account for only part of the total picture. Identification of the remaining genes and characterization of their interactions is likely to establish ADHD firmly as a biological disorder and to lead to better methods of diagnosis and treatment.
注意缺陷多动障碍（通常简称为ADHD）是一种常见、复杂、主要由基因决定但极易治疗的疾病，其较严重的形式会对脑功能产生深远影响，以至于受影响个体生活的方方面面都可能受到永久性损害。尽管过去50年广泛的科学研究都支持这一说法，但关于ADHD仍存在许多误解。这些误解包括认为该疾病不存在、所有儿童都有ADHD症状、如果它确实存在则被严重过度诊断和过度治疗，以及治疗是危险的且会导致药物成瘾倾向。由于大多数误解都包含一些事实成分，那么事实究竟如何呢？
我们查阅了文献以评估一些主张和反驳观点。证据表明，ADHD主要是一种多基因疾病，涉及至少50个基因，包括那些编码神经递质代谢酶、神经递质转运体和受体的基因。由于其多基因性质，ADHD常伴有其他行为异常。它在成人和儿童中都存在，但ADHD本身不一定会损害成人生活中的功能；然而，相关疾病可能会造成损害。本文回顾了一系列治疗选择，并探讨了标准药物治疗产生疗效的机制。
迄今为止与ADHD相关的基因仅占整体情况的一部分。鉴定其余基因并表征它们之间的相互作用，可能会将ADHD坚定地确立为一种生物学疾病，并带来更好的诊断和治疗方法。
