A hybrid deep learning framework for early autism screening.

IF 1.7
Hüseyin Ünözkan, Hüseyin Ali Sarıkaya
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Abstract

Objectives: Early diagnosis of autism spectrum disorder (ASD) remains a significant challenge due to the time-consuming and subjective nature of traditional diagnostic methods. This study proposes a reliability-oriented hybrid deep learning framework that provides a low-cost, scalable, non-invasive, and AI-assisted pre-screening tool for early ASD risk indication and referral support.

Methods: The proposed system integrates two independent deep learning architectures: (1) a ResNet18 model optimized with 10-fold cross-validation using static periocular image data, and (2) a multi-CNN facial image classification ensemble combining ResNet50, EfficientNet-B0, and DenseNet121 architectures. The periocular pathway uses the fine-tuned ResNet18 fully connected softmax layer as its decision boundary. The facial pathway uses weighted probabilistic averaging, and the two subsystem outputs are subsequently combined through an OR-based reliability fusion rule. Additionally, explainable artificial intelligence (Grad-CAM) was employed to visualize decision-relevant regions.

Results: The static periocular ResNet18 model achieved a sensitivity of 90%, while the multi-CNN facial classification ensemble reached a sensitivity of 87.1% and an AUC of 0.948. Under the conditional-independence assumption, OR-based reliability fusion yielded an analytically estimated system-level sensitivity of 0.9871, corresponding to a joint false-negative probability of approximately 1.29%.

Conclusions: The developed hybrid model is positioned as an AI-assisted pre-screening and early-referral support tool, not as a replacement for clinical evaluation. By combining reliability-oriented parallel fusion with explainable AI, the system supports clinical transparency and offers a scalable pathway for early ASD risk indication.

用于早期自闭症筛查的混合深度学习框架。
目的:由于传统诊断方法的耗时和主观性,自闭症谱系障碍(ASD)的早期诊断仍然是一个重大挑战。本研究提出了一种以可靠性为导向的混合深度学习框架,该框架为早期ASD风险指示和转诊支持提供了一种低成本、可扩展、非侵入性和人工智能辅助的预筛查工具。方法:该系统集成了两个独立的深度学习架构:(1)使用静态眼周图像数据进行10倍交叉验证优化的ResNet18模型,以及(2)结合ResNet50、EfficientNet-B0和DenseNet121架构的多cnn面部图像分类集成。眼周通路采用微调后的ResNet18全连接softmax层作为决策边界。面部路径使用加权概率平均,然后通过基于or的可靠性融合规则将两个子系统的输出合并。此外,采用可解释人工智能(Grad-CAM)对决策相关区域进行可视化。结果:静态眼周ResNet18模型的灵敏度达到90%,而多cnn面部分类集合的灵敏度为87.1%,AUC为0.948。在条件无关假设下,基于or的可靠性融合产生了0.9871的分析估计系统级灵敏度,对应的联合假阴性概率约为1.29%。结论:开发的混合模型定位为人工智能辅助的预筛查和早期转诊支持工具,而不是作为临床评估的替代品。通过将面向可靠性的并行融合与可解释的人工智能相结合,该系统支持临床透明度,并为早期ASD风险指示提供了可扩展的途径。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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