The neuroanatomy of autism - a developmental perspective.
The neuroanatomy of autism - a developmental perspective.
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DOI：
10.1111/joa.12542
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发表时间：
2017-01
影响因子：
2.4
通讯作者：
Basson MA
中科院分区：
文献类型：
--
作者：
Donovan AP;Basson MA
自闭症谱系障碍(ASD)是一组不同类型的神经发育障碍，仅根据行为进行诊断。大量工作报告了ASD患者和神经典型对照个体之间的神经解剖学差异。尽管自闭症的典型特征是巨大的临床和遗传异质性，但这些解剖特征中的一些似乎要么在大多数情况下存在，要么在一些情况下发生了戏剧性的变化，以至于它们的存在现在在许多研究中都得到了合理的复制。一个这样的发现是，在出生后早期，额叶皮质有过度生长的趋势。虽然这些报道主要集中在假定的病理解剖学上，但它们为我们提供了对正常脑解剖的重要见解，并激发了关于脑发育正常轨迹和特定解剖结构功能的新想法和新假设。使用模型系统，包括遗传模型生物，如小鼠，以及最近人类诱导的多能干细胞衍生的脑器官，来模拟正常和病理性的人类皮质发育，被证明是特别有意义的。在这里，我们回顾了自闭症中报道的一些神经解剖学变化，特别关注得到充分验证的发现和该领域的最新进展，并询问这些观察结果能告诉我们什么是正常和异常的大脑发育。
Autism Spectrum Disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders that are diagnosed solely on the basis of behaviour. A large body of work has reported neuroanatomical differences between individuals with ASD and neurotypical controls. Despite the huge clinical and genetic heterogeneity that typifies autism, some of these anatomical features appear to be either present in most cases or so dramatically altered in some that their presence is now reasonably well replicated in a number of studies. One such finding is the tendency towards overgrowth of the frontal cortex during the early postnatal period. Although these reports have been focused primarily on the presumed pathological anatomy, they are providing us with important insights into normal brain anatomy and are stimulating new ideas and hypotheses about the normal trajectory of brain development and the function of specific anatomical brain structures. The use of model systems that include genetic model organisms such as the mouse and, more recently, human induced pluripotent stem cell‐derived brain organoids to model normal and pathological human cortical development, is proving particularly informative. Here we review some of the neuroanatomical alterations reported in autism, with a particular focus on well‐validated findings and recent advances in the field, and ask what these observations can tell us about normal and abnormal brain development.
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