Cortical regionalization develops via genomic patterning along anterior-posterior (A-P) and dorsal-ventral (D-V) gradients. Here, we find that normative A-P and D-V genomic patterning of cortical surface area (SA) and thickness (CT), present in typically developing and autistic toddlers with good early language outcome, is absent in autistic toddlers with poor early language outcome. Autistic toddlers with poor early language outcome are instead specifically characterized by a secondary and independent genomic patterning effect on CT. Genes involved in these effects can be traced back to midgestational A-P and D-V gene expression gradients and different prenatal cell types (e.g., progenitor cells and excitatory neurons), are functionally important for vocal learning and human-specific evolution, and are prominent in prenatal coexpression networks enriched for high-penetrance autism risk genes. Autism with poor early language outcome may be explained by atypical genomic cortical patterning starting in prenatal development, which may detrimentally affect later regional functional specialization and circuit formation.

中文翻译：

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自闭症患者的非典型基因组皮质模式导致早期语言结果不佳


皮质区域化是通过沿前后（AP）和背腹（DV）梯度的基因组模式发展的。在这里，我们发现，皮质表面积（SA）和厚度（CT）的规范AP和DV基因组模式存在于早期语言结果良好的典型发育和自闭症幼儿中，而在早期语言结果较差的自闭症幼儿中则不存在。相反，早期语言结果较差的自闭症幼儿的具体特征是 CT 上的次要且独立的基因组模式效应。参与这些效应的基因可以追溯到妊娠中期 AP 和 DV 基因表达梯度和不同的产前细胞类型（例如祖细胞和兴奋性神经元），在功能上对于声音学习和人类特异性进化很重要，并且在产前共表达中很重要丰富的高外显率自闭症风险基因网络。早期语言结果不佳的自闭症可能是由产前发育开始的非典型基因组皮质模式解释的，这可能会对以后的区域功能专门化和回路形成产生不利影响。