Graduate Institute of Injury Prevention and Control, College of Public Health, Taipei Medical University, Taipei, Taiwan.
Graduate Institute of Mind, Brain and Consciousness, College of Humanities and Social Sciences, Taipei Medical University, Taipei, Taiwan.
Psychiatry Clin Neurosci. 2024 Jan;78(1):60-68. doi: 10.1111/pcn.13605. Epub 2023 Oct 27.
Despite the emphasis on sensory dysfunction phenotypes in the revised diagnostic criteria for autism spectrum disorder (ASD), there has been limited research, particularly in the field of neurobiology, investigating the concordance in sensory features between individuals with ASD and their genetic relatives. Therefore, our objective was to examine whether neurobehavioral sensory patterns could serve as endophenotypic markers for ASD.
We combined questionnaire- and lab-based sensory evaluations with sensory fMRI measures to examine the patterns of sensory responsivity in 30 clinically diagnosed with ASD, 26 matched controls (CON), and 48 biological parents for both groups (27 parents of individuals with ASD [P-ASD] and 21 for individuals with CON [P-CON]).
The ASD and P-ASD groups had higher sensory responsivity and rated sensory stimuli as more unpleasant than the CON and P-CON groups, respectively. They also exhibited greater hemodynamic responses within the sensory cortices. Overlapping activations were observed within these sensory cortices in the ASD and P-ASD groups. Using a machine learning approach with robust prediction models across cohorts, we demonstrated that the sensory profile of biological parents accurately predicted the likelihood of their offspring having ASD, achieving a prediction accuracy of 71.4%.
These findings provide support for the hereditary basis of sensory alterations in ASD and suggest a potential avenue to improve ASD diagnosis by utilizing the sensory signature of biological parents, especially in families with a high risk of ASD. This approach holds promising prospects for early detection, even before the birth of the offspring.
尽管在修订的自闭症谱系障碍 (ASD) 诊断标准中强调了感觉功能障碍表型,但在神经生物学领域,对 ASD 患者及其遗传亲属之间感觉特征的一致性的研究有限。因此,我们的目的是研究神经行为感觉模式是否可以作为 ASD 的候选内表型标记。
我们结合了问卷调查和基于实验室的感觉评估以及感觉 fMRI 测量,以检查 30 名临床诊断为 ASD 的个体、26 名匹配的对照组 (CON) 以及两组的 48 位生物学父母(27 名 ASD 个体的父母 [P-ASD] 和 21 名 CON 个体的父母 [P-CON])的感觉反应模式。
ASD 和 P-ASD 组的感觉反应性较高,且分别比 CON 和 P-CON 组感觉刺激更不愉快。他们在感觉皮质内也表现出更大的血液动力学反应。在 ASD 和 P-ASD 组中观察到这些感觉皮质内的重叠激活。使用机器学习方法,在多个队列中建立了稳健的预测模型,我们证明了生物学父母的感觉特征可以准确预测其后代患有 ASD 的可能性,预测准确率为 71.4%。
这些发现为 ASD 中感觉改变的遗传性基础提供了支持,并表明通过利用生物学父母的感觉特征来改善 ASD 诊断具有潜在途径,特别是在 ASD 风险较高的家庭中。这种方法在后代出生之前甚至可以进行早期检测,具有广阔的前景。