Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Pediatr Res. 2011 May;69(5 Pt 2):55R-62R. doi: 10.1203/PDR.0b013e318212ec6e.
Autism, like intellectual disability, represents the severe end of a continuous distribution of developmental impairments that occur in nature, that are highly inherited, and that are orthogonally related to other parameters of development. A paradigm shift in understanding the core social abnormality of autism as a quantitative trait rather than as a categorically defined condition has key implications for diagnostic classification, the measurement of change over time, the search for underlying genetic and neurobiologic mechanisms, and public health efforts to identify and support affected children. Here, a recent body of research in genetics and epidemiology is presented to examine a dimensional reconceptualization of autistic social impairment-as manifested in clinical autistic syndromes, the broader autism phenotype, and normal variation in the general population. It illustrates how traditional categorical approaches to diagnosis may lead to misclassification of subjects (especially girls and mildly affected boys in multiple-incidence autism families), which can be particularly damaging to biological studies and proposes continued efforts to derive a standardized quantitative system by which to characterize this family of conditions.
自闭症与智力障碍一样，代表了在自然中发生的发育障碍的严重连续分布的极端情况，这些障碍高度遗传，并与发育的其他参数正交相关。将自闭症的核心社交异常理解为一种定量特征，而不是一种明确界定的疾病，这种范式的转变对诊断分类、随时间变化的测量、潜在遗传和神经生物学机制的研究以及识别和支持受影响儿童的公共卫生工作都具有重要意义。在这里，提出了最近在遗传学和流行病学方面的一系列研究，以检查自闭症社交障碍的维度重新概念化——表现在临床自闭症综合征、更广泛的自闭症表型以及普通人群中的正常变异中。它说明了传统的分类方法如何可能导致对受试者的错误分类（尤其是多发性自闭症家庭中的女孩和轻度受影响的男孩），这对生物学研究尤其有害，并提出继续努力制定一种标准化的定量系统来描述这一系列病症。
