Klusek Jessica, Schmidt Joseph, Fairchild Amanda J, Porter Anna, Roberts Jane E
Department of Communication Sciences and Disorders, University of South Carolina, Keenan Building 1229 Marion Street, Suite 300, Columbia, SC, 29208, USA.
Department of Psychology, College of Sciences, University of Central Florida, 4111 Pictor Lane, Orlando, FL, 32816, USA.
J Neurodev Disord. 2017 Aug 24;9(1):31. doi: 10.1186/s11689-017-9211-z.
The FMR1 premutation affects 1:291 women and is associated with a range of cognitive, affective, and physical health complications, including deficits in pragmatic language (i.e., social language). This study investigated attention to eye gaze as a fundamental social-cognitive skill that may be impaired in the FMR1 premutation and could underlie pragmatic deficits. Given the high prevalence of the FMR1 premutation, efforts to define its phenotype and mechanistic underpinnings have significant public health implications.
Thirty-five women with the FMR1 premutation and 20 control women completed an eye-tracking paradigm that recorded time spent dwelling within the eye region in response to a face displaying either direct or averted gaze. Pragmatic language ability was coded from a conversational sample using the Pragmatic Rating Scale.
Women with the FMR1 premutation failed to show attentional preference to direct gaze and spent more time dwelling on the averted eyes relative to controls. While dwelling on the eyes was associated with better pragmatic language performance in controls, these variables were unrelated in the women with the FMR1 premutation.
Altered sensitivity to social gaze, characterized by increased salience of averted gaze, was observed among women with the FMR1 premutation. Furthermore, women with the FMR1 premutation were unable to capitalize on information conveyed through the eyes to enhance social-communicative engagement, which differed from patterns seen in controls. These findings contribute to the growing characterization of social and communication phenotypes associated with the FMR1 premutation.
脆性X智力低下基因1（FMR1）前突变影响1/291的女性，并与一系列认知、情感和身体健康并发症相关，包括语用语言（即社交语言）缺陷。本研究调查了对目光注视的注意力，这是一种基本的社会认知技能，可能在FMR1前突变中受损，并可能是语用缺陷的基础。鉴于FMR1前突变的高患病率，确定其表型和机制基础的努力具有重大的公共卫生意义。
35名携带FMR1前突变的女性和20名对照女性完成了一项眼动追踪范式，该范式记录了她们在面对直接注视或回避注视的面孔时，在眼睛区域停留的时间。使用语用评定量表从对话样本中对语用语言能力进行编码。
携带FMR1前突变的女性未能表现出对直接注视的注意力偏好，与对照组相比，她们在回避注视的眼睛上停留的时间更长。在对照组中，注视眼睛与更好的语用语言表现相关，但在携带FMR1前突变的女性中，这些变量并无关联。
在携带FMR1前突变的女性中观察到对社交注视的敏感性改变，其特征是回避注视的显著性增加。此外，携带FMR1前突变的女性无法利用通过眼睛传达的信息来增强社交沟通参与度，这与对照组的模式不同。这些发现有助于进一步刻画与FMR1前突变相关的社会和沟通表型。
