a Department of Communication Sciences and Disorders , University of South Carolina , Columbia , SC , USA.
b Department of Psychology , University of South Carolina , Columbia , SC , USA.
Clin Neuropsychol. 2018 Aug-Oct;32(7):1337-1352. doi: 10.1080/13854046.2017.1384063. Epub 2017 Oct 3.
The Fragile X Mental Retardation-1 (FMR1) premutation is a common genetic abnormality, affecting ~1:150 women in the United States. Clinical neuropsychologists are becoming increasingly aware of their role in the clinical management of the FMR1 premutation, which is associated with risk for a range of cognitive, executive, neuromotor, and psychological impairments, including neurodegenerative disease. This study investigated atypical eye contact as a critical neuropsychological phenotype associated with the FMR1 premutation.
Thirty-eight women with the FMR1 premutation and 27 control women engaged in a 20-min conversational sample with an examiner. Eye contact quality was coded from the videotaped samples by blinded coders. Mixed models tested group differences in eye contact during the beginning and the end of the conversation. Social anxiety and broad autism phenotype (BAP) traits were tested as predictors of eye contact quality across the groups.
Women with the FMR1 premutation exhibited significantly reduced eye contact during both the beginning and the end of the social interaction, despite a 'warm-up' effect where eye contact improved by the end of the interaction. Eye contact quality was not associated with social anxiety or BAP traits.
This study supports reduced eye contact as a phenotypic feature of the FMR1 premutation, which presents independent of social anxiety and the BAP. These findings contribute to a growing understanding of the neuropsychological phenotype of the FMR1 premutation, which has public health implications given that >1 million individuals in the United States carry this genetic abnormality.
脆性 X 智力低下 1 型（FMR1）前突变是一种常见的遗传异常，影响美国约 1/150 的女性。临床神经心理学家越来越意识到他们在 FMR1 前突变的临床管理中的作用，该前突变与一系列认知、执行、神经运动和心理障碍相关，包括神经退行性疾病。本研究调查了非典型眼神接触作为与 FMR1 前突变相关的关键神经心理学表型。
38 名 FMR1 前突变女性和 27 名对照女性与检查者进行了 20 分钟的对话样本。通过盲法编码员对录像样本进行了眼神接触质量的编码。混合模型测试了组间在对话开始和结束时眼神接触的差异。社交焦虑和广泛自闭症表型（BAP）特征被测试为跨组眼神接触质量的预测因子。
尽管在互动结束时眼神接触有所改善，但 FMR1 前突变女性在社交互动的开始和结束时，眼神接触明显减少。眼神接触质量与社交焦虑或 BAP 特征无关。
这项研究支持减少眼神接触作为 FMR1 前突变的表型特征，该特征与社交焦虑和 BAP 无关。这些发现有助于更好地理解 FMR1 前突变的神经心理学表型，鉴于美国有超过 100 万人携带这种遗传异常，这具有公共卫生意义。
