Dworzynski Katharina, Ronald Angelica, Hayiou-Thomas Marianna, Rijsdijk Frühling, Happé Francesca, Bolton Patrick F, Plomin Robert
MRC Social Genetic and Developmental Psychiatry (SGDP) Centre, Institute of Psychiatry, London, UK.
Int J Lang Commun Disord. 2007 May-Jun;42(3):273-92. doi: 10.1080/13682820600939002.
Impairments in language and communication are core features of autism spectrum disorders (ASDs). The basis for this association is poorly understood. How early language is related to each of the triad of impairments characteristic of ASDs is also in need of clarification.
This is the first study that aims to determine the extent to which shared genetic and environmental factors underlie the association between early language performance and autistic-like traits (ALTs) in middle childhood.
METHODS & PROCEDURES: Data came from a population-based twin sample (n = 6087 pairs) assessed prospectively at 2, 3, 4 and 8 years. ALTs measured by the Childhood Asperger Syndrome Test (CAST) at 8 years were investigated in relation to language assessed by the MacArthur Communicative Development Inventory (CDI) at 2, 3 and 4 years. Multivariate model fitting techniques were used to analyse the origins of this association.
OUTCOMES & RESULTS: Total CAST scores, as well as Social and Communication subscales, at 8 years were weakly but significantly negatively correlated with language ability at 2, 3 and 4 years. Correlations between language and restrictive and repetitive behaviours and interests (RRBI) were not significant. The phenotypic correlations between language and Social and Communication ALTs were almost entirely mediated by shared genetic influences. There were specific genetic influences on early language that were not shared with ALTs, and specific genetic influences on ALTs not shared with earlier language performance.
This is the first study to demonstrate shared genetic influences in relation to language performance as an early antecedent of later ALTs. These results support the idea that the triad of core features in ALTs are aetiologically heterogeneous, with early language relating to social and communication impairments but not RRBIs.
语言和沟通障碍是自闭症谱系障碍（ASD）的核心特征。这种关联的基础尚不清楚。早期语言与ASD特征性三联征中每一项的关系也有待阐明。
这是第一项旨在确定共同的遗传和环境因素在多大程度上构成童年中期早期语言表现与自闭症样特征（ALT）之间关联基础的研究。
数据来自一个基于人群的双胞胎样本（n = 6087对），在2岁、3岁、4岁和8岁时进行前瞻性评估。研究了8岁时通过儿童阿斯伯格综合征测试（CAST）测量的ALT与2岁、3岁和4岁时通过麦克阿瑟沟通发展量表（CDI）评估的语言之间的关系。使用多变量模型拟合技术分析这种关联的起源。
8岁时的CAST总分以及社交和沟通分量表与2岁、3岁和4岁时的语言能力呈弱但显著的负相关。语言与限制性行为、重复行为及兴趣（RRBI）之间的相关性不显著。语言与社交和沟通ALT之间的表型相关性几乎完全由共同的遗传影响介导。对早期语言有特定的遗传影响，这些影响与ALT不共享，对ALT也有特定的遗传影响，这些影响与早期语言表现不共享。
这是第一项证明与语言表现相关的共同遗传影响作为后期ALT早期先兆的研究。这些结果支持这样一种观点，即ALT的核心特征三联征在病因上是异质的，早期语言与社交和沟通障碍有关，但与RRBI无关。
