Karmiloff-Smith Annette
Developmental Neurocognition Lab, Birkbeck, University of London, London, UK.
Dev Sci. 2007 Jan;10(1):84-8. doi: 10.1111/j.1467-7687.2007.00568.x.
It is becoming increasingly clear that little in development is predetermined or permanently fixed. Rather, gene expression is activity dependent, and epigenesis is probabilistic. So, the study of genetic disorders needs to change from the still widely held view that developmental disorders can be accounted for in terms of intact versus impaired modules, to one which takes serious account of the fact that the infant cortex passes from an initial state of high regional interconnectivity to a subsequent state of increasing specialization and localization of function. With such early interconnectivity in mind, developmental neuroscientists must consider the possibility that an early deficit in one part of the brain may have subtle effects on other parts of the developing brain, even when scores fall 'in the normal range'. In studying developmental disorders, it is thus crucial to examine not only domains of clear-cut deficit, but also domains of behavioural proficiency. Atypical epigenesis may often involve a lack of specialization and localization of brain function over developmental time, even in cases of behavioural proficiency.
越来越明显的是，发育过程中几乎没有什么是预先确定的或永久固定的。相反，基因表达依赖于活动，表观遗传是概率性的。因此，对遗传疾病的研究需要从仍然广泛持有的观点转变，即发育障碍可以根据完整模块与受损模块来解释，转变为一种认真考虑婴儿皮层从最初高度区域互连状态过渡到随后功能越来越专业化和局部化状态这一事实的观点。考虑到这种早期互连性，发育神经科学家必须考虑这样一种可能性，即大脑某一部分的早期缺陷可能对发育中大脑的其他部分产生微妙影响，即使分数落在“正常范围内”。因此，在研究发育障碍时，不仅要检查明显缺陷的领域，还要检查行为熟练的领域，这至关重要。非典型表观遗传通常可能涉及在发育过程中大脑功能缺乏专业化和局部化，即使在行为熟练的情况下也是如此。
