Department of Psychological and Brain Sciences, Dartmouth College, Hanover, New Hampshire, USA.
Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
Autism Res. 2023 Apr;16(4):831-840. doi: 10.1002/aur.2901. Epub 2023 Feb 7.
Close phenotypic characterization of individuals with genetic conditions linked to autism provides a promising approach to navigating the heterogeneity of autism spectrum conditions. The current study investigated sensory processing in individuals with a rare genetic event that is highly penetrant for autism, 16p11.2 deletions, using a well-characterized visual paradigm, binocular rivalry, which is thought to be a non-invasive index of excitatory/inhibitory balance in the visual cortex. We characterized rivalry dynamics in 45 adolescent and adult individuals (19 individuals with 16p11.2 deletions, 26 age-matched neurotypical controls). We found that binocular rivalry perceptual transition rates were significantly slower for individuals with 16p11.2 deletions, relative to controls. Importantly, these results could not be accounted for by differences in motor response latencies or perceptual decision criteria, which were matched between groups. Results should be interpreted with caution given the unmatched psychometric features between groups, such as IQ. Future studies should study visual processing in other genetic groups linked to autism beyond 16p to understand the specificity of these findings. These results highlight the importance of characterizing sensory functions in individuals with genetic alterations associated with autism.
对与自闭症相关的遗传疾病个体进行表型特征的密切分析，为探索自闭症谱系障碍的异质性提供了一种很有前景的方法。本研究使用一种经过充分验证的视觉范式——双眼竞争，来研究一种与自闭症高度相关的罕见遗传事件（16p11.2 缺失）个体的感觉处理情况。该范式被认为是视觉皮层中兴奋/抑制平衡的非侵入性指标。我们对 45 名青少年和成年个体（19 名携带 16p11.2 缺失的个体，26 名年龄匹配的神经典型对照）的竞争动态进行了特征描述。我们发现，与对照组相比，携带 16p11.2 缺失的个体的双眼竞争感知转换率明显较慢。重要的是，这些结果不能用运动反应潜伏期或感知决策标准的差异来解释，这些差异在组间是匹配的。鉴于组间的心理计量特征不匹配，如智商，结果应谨慎解释。未来的研究应该在自闭症相关的其他遗传群体中研究视觉处理，以了解这些发现的特异性。这些结果强调了在与自闭症相关的遗传改变个体中描述感觉功能的重要性。
