Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
Autism Center, Texas Children's Hospital, Houston, TX, USA.
J Autism Dev Disord. 2017 Nov;47(11):3600-3607. doi: 10.1007/s10803-017-3256-4.
Approximately one-third of children with autism spectrum disorder (ASD) reportedly lose skills within the first 3 years, yet a causal mechanism remains elusive. Considering evidence of strong genetic effects for ASD and findings that distinct phenotypes in ASD associate with specific genetic events, we examined rates of parent-reported regression in the Simons Simplex Collection with likely gene disrupting mutations from five distinct classes: FMRP target genes, genes encoding chromatin modifiers, genes expressed preferentially in embryos, genes encoding postsynaptic density proteins, and essential genes. Children with ASD and mutations in postsynaptic density genes were more likely to experience regression, while a trend suggested that children with ASD and mutations in embryonic genes were less likely to have skill losses.
据报道，大约三分之一的自闭症谱系障碍 (ASD) 儿童在最初的 3 年内会丧失技能，但目前仍不清楚其因果机制。鉴于 ASD 存在强烈的遗传效应的证据，以及 ASD 的不同表型与特定的遗传事件相关的发现，我们研究了 Simons Simplex Collection 中具有可能破坏基因功能的突变的儿童，这些突变来自五个不同的类别：FMRP 靶基因、染色质修饰因子基因、优先在胚胎中表达的基因、突触后密度蛋白编码基因和必需基因。患有 ASD 且突触后密度基因发生突变的儿童更有可能出现倒退，而一项趋势表明，患有 ASD 且胚胎基因发生突变的儿童不太可能出现技能丧失。
