神经发育障碍和拷贝数变异（CNVs）之间到底有什么不可告人的秘密？近年来，越来越多的研究显示，CNVs可能对儿童的智力和行为产生深远影响，而其中的机制却鲜为人知。究竟什么是神经发育障碍相关CNVs？它们又是如何影响儿童的发育的呢？

神经发育障碍（NDD）是一组严重影响个体行为和认知功能的疾病，包括注意缺陷多动障碍、自闭症谱系障碍等。最近的研究发现，拷贝数变异（CNVs）是这些障碍的一个重要致病原因。根据挪威的最新研究，NDD相关CNVs的整体人群发生率为0.48%，即每200名儿童中约有1名存在CNV。

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Evidence is accumulating that CNVs play important roles in human disease. Copy number variations have a number of important implications. First, CNVs suggest that an individual's genetic code may ...

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These CNVs can modify gene expression, whether by increasing in the case of duplication or reducing in the case of deletion. Some changes in genetic expression are linked to impacts on cognitive ...