Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.
Autism Res. 2012 Dec;5(6):407-18. doi: 10.1002/aur.1252. Epub 2012 Sep 7.
Velo-cardio-facial syndrome (VCFS; 22q11.2 deletion syndrome) results from a genetic mutation that increases risk for Autism Spectrum Disorder (ASD). We compared Theory of Mind (ToM) skills in 63 individuals with VCFS (25% with an ASD diagnosis) and 43 typically developing controls, and investigated the relationship of ToM to reciprocal social behavior. We administered a video-based task to assess mentalizing at two sites University of California, Los Angeles (UCLA) and State University of New York (SUNY) Upstate Medical University. The videos depicted interactions representing complex mental states (ToM condition), or simple movements (Random condition). Verbal descriptions of the videos were rated for Intentionality (i.e. mentalizing) and Appropriateness. Using Repeated Measures analysis of variance (ANOVA), we assessed the effects of VCFS and ASD on Intentionality and Appropriateness, and the relationship of mentalizing to Social Responsiveness Scale (SRS) scores. Results indicated that individuals with VCFS overall had lower Intentionality and Appropriateness scores than controls for ToM but not for Random scenes. In the SUNY sample, individuals with VCFS, both with and without ASD, performed more poorly than controls on the ToM condition; however, in the UCLA sample, only individuals with VCFS without ASD performed significantly worse than controls on the ToM condition. Controlling for site and age, performance on the ToM condition was significantly correlated with SRS scores. Individuals with VCFS, regardless of an ASD diagnosis, showed impairments in the spontaneous attribution of mental states to abstract visual stimuli, which may underlie real-life problems with social interactions. A better understanding of the social deficits in VCFS is essential for the development of targeted behavioral interventions.
心面血管综合征（VCFS；22q11.2 缺失综合征）是由遗传突变引起的，会增加自闭症谱系障碍（ASD）的风险。我们比较了 63 名 VCFS 患者（25%有 ASD 诊断）和 43 名发育正常的对照组的心理理论（ToM）技能，并研究了 ToM 与互惠社会行为的关系。我们在加利福尼亚大学洛杉矶分校（UCLA）和纽约州立大学（SUNY）上州医科大学进行了一项基于视频的任务，以评估心理理论能力。视频描绘了代表复杂心理状态的互动（ToM 条件）或简单运动（随机条件）。视频的口头描述被评定为意图（即心理理论）和适当性。使用重复测量方差分析（ANOVA），我们评估了 VCFS 和 ASD 对意图和适当性的影响，以及心理理论与社交反应量表（SRS）评分的关系。结果表明，VCFS 患者的整体意图和适当性评分低于对照组的 ToM 条件，但随机场景则不然。在 SUNY 样本中，有和没有 ASD 的 VCFS 患者在 ToM 条件下的表现均比对照组差；然而，在 UCLA 样本中，只有没有 ASD 的 VCFS 患者在 ToM 条件下的表现明显比对照组差。控制地点和年龄后，ToM 条件的表现与 SRS 评分显著相关。无论是否患有 ASD，VCFS 患者在自发归因于抽象视觉刺激的心理状态方面都存在障碍，这可能是社交互动中现实问题的基础。更好地理解 VCFS 的社交缺陷对于开发有针对性的行为干预措施至关重要。
