Department of Pediatrics and Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE 68198-5960, USA.
J Dev Behav Pediatr. 2010 Sep;31(7):555-63. doi: 10.1097/DBP.0b013e3181ee3d9e.
Quantitative behavioral genetic studies have made it clear that communication disorders such as reading disability, language impairment, and autism spectrum disorders follow some basic principles: (1) complex disorders have complex causes, in which each clinical disorder is influenced by a number of separate genes; and (2) at least some behaviorally related disorders are influenced by the same genes. Recent advances in molecular and statistical methods have confirmed these principles and are now leading to an understanding of the genes that may be involved in these disorders and how their disruption may affect the development of the brain. The prospect is that the genes involved in these disorders will define a network of interacting neurologic functions and that perturbations of different elements of this network will produce susceptibilities for different disorders. Such knowledge would clarify the underlying deficits in these disorders and could lead to revised diagnostic conceptions. However, these goals are still in the future. Identifying the individual genes in such a network is painstaking, and there have been seemingly contradictory studies along the way. Improvements in study design and additional functional analysis of genes are gradually clarifying many of these issues. When combined with careful phenotypic studies, molecular genetic studies have the potential to refine the clinical definitions of communication disorders and influence their remediation.
定量行为遗传学研究已经明确，阅读障碍、语言障碍和自闭症谱系障碍等沟通障碍遵循一些基本原则：（1）复杂障碍有复杂的原因，其中每种临床障碍都受到许多单独基因的影响；（2）至少一些与行为相关的障碍受到相同基因的影响。分子和统计方法的最新进展证实了这些原则，现在正在帮助人们理解可能涉及这些障碍的基因，以及它们的破坏如何影响大脑的发育。这些障碍所涉及的基因有望定义一个相互作用的神经功能网络，而这个网络的不同元素的干扰将导致不同障碍的易感性。这种知识将阐明这些障碍的潜在缺陷，并可能导致对诊断概念的修正。然而，这些目标还在未来。在这样的网络中识别单个基因是一项艰苦的工作，而且在此过程中出现了看似相互矛盾的研究。研究设计的改进和对基因的额外功能分析正在逐步澄清许多这些问题。当与仔细的表型研究相结合时，分子遗传学研究有可能细化沟通障碍的临床定义，并影响其矫正。
