Am J Intellect Dev Disabil. 2013 Nov;118(6):475-95. doi: 10.1352/1944.7558-118.6.475.
This study tested the hypothesis that pragmatic (i.e., social) language impairment is linked to arousal dysregulation in autism spectrum disorder (ASD) and fragile X syndrome (FXS). Forty boys with ASD, 39 with FXS, and 27 with typical development (TD), aged 4-15 years, participated. Boys with FXS were hyperaroused compared to boys with TD but did not differ from boys with ASD. Dampened vagal tone predicted pragmatic impairment in ASD, and associations emerged between cardiac activity and receptive/expressive vocabulary across groups. Findings support autonomic dysfunction as a mechanism underlying pragmatic impairment in ASD and suggest that biophysiological profiles are shared in ASD and FXS, which has implications for understanding the role of fragile X mental retardation-1 (FMR1, the FXS gene) in the pathophysiology of ASD.
在自闭症谱系障碍(ASD)和脆性 X 综合征(FXS)中,语用(即社会)语言障碍与唤醒失调有关。共有 40 名 ASD 男孩、39 名 FXS 男孩和 27 名典型发育(TD)男孩参与了研究,年龄在 4 至 15 岁之间。与 TD 男孩相比,FXS 男孩表现出过度兴奋,但与 ASD 男孩没有差异。迷走神经张力降低预测 ASD 中的语用障碍,并且在各组之间,心脏活动与接受/表达词汇之间存在关联。研究结果支持自主神经功能障碍是 ASD 中语用障碍的一种机制,并表明生物生理特征在 ASD 和 FXS 中是共享的,这对于理解脆性 X 智力低下蛋白 1(FMR1,FXS 基因)在 ASD 病理生理学中的作用具有重要意义。