Anderson George M
Child Study Center, Yale University School of Medicine, 230 South Frontage Rd., New Haven, Connecticut, USA.
Autism Res. 2008 Feb;1(1):18-30. doi: 10.1002/aur.2.
Although most research on autistic behavior has considered autism categorically, the increasingly apparent genetic and phenotypic complexities of autism are prompting a more dimensional approach to this area. The long-standing interest in a less categorical approach is made clear from a review of literature. The accumulating empirical support for viewing autism-related phenomena as separable and fractionable is outlined and includes data indicating that many of the behaviors occur in isolation in family members and the general population, are not highly correlated within individuals, and appear to be inherited separately. However, it is emphasized that some of the most common and characteristic phenomena observed in individuals diagnosed with autism do not run in their families. It is suggested that these novel, "emergent," phenomena may arise in the individual from interacting configurations of co-occurring traits or from the interaction of genetic and biological factors underlying the traits. A number of autism-related phenomena including intellectual disability, seizures, persistence of primitive reflexes, stereotypies, self-injurious behavior, savant abilities, and morphological abnormalities, among others, are discussed as potentially being emergent. It is concluded that consideration of the role of emergence in autistic behavior and related phenomena should complement a reductionist approach and might help illuminate the components and complexities of autism.
尽管大多数关于自闭症行为的研究都是将自闭症作为一个类别来考虑的,但自闭症日益明显的遗传和表型复杂性正促使人们在这一领域采用更具维度的研究方法。从文献综述中可以清楚地看出,长期以来人们一直对一种不那么绝对的方法感兴趣。文中概述了将自闭症相关现象视为可分离和可细分的这一观点所积累的实证支持,这些数据包括:许多行为在家庭成员和普通人群中是孤立出现的,在个体内部相关性不高,而且似乎是分别遗传的。然而,需要强调的是,在被诊断为自闭症的个体中观察到的一些最常见和最具特征性的现象在其家族中并不常见。有人认为,这些新出现的“突发”现象可能是个体中共同出现的特征相互作用的结果,或者是这些特征背后的遗传和生物因素相互作用的结果。文中讨论了一些与自闭症相关的现象,包括智力残疾、癫痫发作、原始反射持续存在、刻板行为、自伤行为、学者症候群和形态异常等,认为它们都有可能是突发的。结论是,考虑突发因素在自闭症行为及相关现象中的作用,应该补充还原论方法,并且可能有助于阐明自闭症的组成部分和复杂性。