Autism: research into causes and intervention.
Autism: research into causes and intervention.
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DOI：
10.1080/13638490310001654790
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发表时间：
2004-04-01
期刊：
影响因子：
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通讯作者：
Baron-Cohen, Simon
中科院分区：
文献类型：
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作者：
Baron-Cohen, Simon
自闭症谱系障碍是一种具有很强遗传性的神经发育综合征。认知理论已经成功地解释了为什么这些特征会同时出现。共情缺陷有可能解释一种三重障碍（社交困难、沟通困难和想象他人的想法），并且可能在杏仁核和左内侧额叶皮层中有大脑基础。一个强大的系统化驱动力可以解释一个独特的三重优势（对细节的良好关注，深刻的，狭隘的兴趣和能力的孤岛）。系统化的大脑基础还有待理解。家族遗传学研究表明，这些相同的认知维度（减少共情伴随着强烈的系统化驱动）也可能表征一级亲属中的“更广泛的表型”。分子遗传学研究正在进行中，任何自闭症的候选基因最终都需要根据观察到的大脑、认知和行为差异进行测试。基因筛选或基因治疗的伦理问题应该在这些技术出现之前就得到考虑，因为考虑到表型特征的广泛性，并不是所有的表型特征都是致残的，因此根本没有任何共识认为这些技术是可取的。未来的研究将需要集中在评估任何形式的干预措施在多大程度上减少了三重障碍，同时支持了三重优势。
Autism spectrum conditions are neuro-developmental syndromes with strong heritability. Cognitive theories have had some success in explaining why the cluster of features should co-occur. Empathizing deficits have the potential to make sense of one triad of impairments (social difficulties, communication difficulties and imagining others' minds), and may have a brain basis in the amygdala and left medial frontal cortex. A strong systemizing drive may account for a distinct triad of strengths (good attention to detail, deep, narrow interests and islets of ability). The brain basis of systemizing is yet to be understood. Family genetics studies suggest that these same cognitive dimensions (reduced empathizing alongside a strong drive to systemize) may also characterize the 'broader phenotype' among first-degree relatives. Molecular genetic studies are underway and any candidate genes for autism will ultimately need to be tested in relation to the observed differences in the brain, cognition and behaviour. The ethics of genetic screening or gene therapy should be thought about well ahead of these becoming available, since there is by no means any consensus that these would be desirable given the wide range of phenotypic traits, not all of which are disabling. Future research will need to focus on evaluating the extent to which any form of intervention reduces the triad of impairments whilst supporting the triad of strengths.