Centre for Brain and Cognitive Development, Department of Psychological Sciences, Birkbeck, University of London, London, UK.
Mol Psychiatry. 2011 Oct;16(10):1039-47. doi: 10.1038/mp.2010.82. Epub 2010 Jul 20.
This study aimed to identify empirically the number of factors underlying autism symptoms-social impairments, communication impairments, and restricted repetitive behaviors and interests-when assessed in a general population sample. It also investigated to what extent these autism symptoms are caused by the same or different genetic and environmental influences. Autistic symptoms were assessed in a population-based twin cohort of >12,000 (9- and 12-year-old) children by parental interviews. Confirmatory factor analyses, principal component analyses and multivariate structural equation model fitting were carried out. A multiple factor solution was suggested, with nearly all analyses pointing to a three-factor model for both boys and girls and at both ages. A common pathway twin model fit the data best, which showed that there were some underlying common genetic and environmental influences across the different autism dimensions, but also significant specific genetic effects on each symptom type. These results suggest that the autism triad consists of three partly independent dimensions when assessed in the general population, and that these different autism symptoms, to a considerable extent, have partly separate genetic influences. These findings may explain the large number of children who do not meet current criteria for autism but who show some autism symptoms. Molecular genetic research may benefit from taking a symptom-specific approach to finding genes associated with autism.
本研究旨在通过对一般人群样本的评估，从实证角度确定自闭症症状（社交障碍、沟通障碍和受限重复行为和兴趣）背后的因素数量。它还探讨了这些自闭症症状在多大程度上是由相同或不同的遗传和环境影响引起的。自闭症症状由父母访谈在一个基于人群的双胞胎队列中进行评估，该队列包含超过 12000 名（9 岁和 12 岁）儿童。进行了验证性因素分析、主成分分析和多变量结构方程模型拟合。提出了一个多因素解决方案，几乎所有分析都表明，对于男孩和女孩以及两个年龄段，都存在一个三因素模型。共同途径双胞胎模型最符合数据，这表明在不同的自闭症维度之间存在一些共同的遗传和环境影响，但对每种症状类型也存在显著的特定遗传影响。这些结果表明，当在一般人群中评估时，自闭症三联征由三个部分独立的维度组成，并且这些不同的自闭症症状在很大程度上具有部分独立的遗传影响。这些发现可以解释为什么有大量不符合当前自闭症标准但表现出一些自闭症症状的儿童。分子遗传学研究可能受益于采取特定症状的方法来寻找与自闭症相关的基因。
