Zhuo Wang: Department of Computer Science and Technology, Tsinghua University, Beijing, P.R. China.
Jie Wang: Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan 1st, Dongcheng District, Beijing, P.R. China.
Ning Liu: Department of Computer Science and Technology, Tsinghua University, Beijing, P.R. China.
Caiyan Liu: Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan 1st, Dongcheng District, Beijing, P.R. China.
Xiuxing Li: Department of Computer Science and Technology, Tsinghua University, Beijing, P.R. China.
Liling Dong: Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan 1st, Dongcheng District, Beijing, P.R. China.
Rui Zhang: Department of Computer Science and Technology, Tsinghua University, Beijing, P.R. China.
Chenhui Mao: Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan 1st, Dongcheng District, Beijing, P.R. China.
Zhichao Duan: Department of Computer Science and Technology, Tsinghua University, Beijing, P.R. China.
Wei Zhang: School of Computer Science and Technology, East China Normal University, Shanghai, P.R. China.
Jing Gao: Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan 1st, Dongcheng District, Beijing, P.R. China.
Jianyong Wang: Department of Computer Science and Technology, Tsinghua University, Beijing, P.R. China.
BACKGROUND: Accurate, cheap, and easy to promote methods for dementia prediction and early diagnosis are urgently needed in low- and middle-income countries. Integrating various cognitive tests using machine learning provides promising solutions. However, most effective machine learning models are black-box models that are hard to understand for doctors and could hide potential biases and risks. OBJECTIVE: To apply cognitive-test-based machine learning models in practical dementia prediction and diagnosis by ensuring both interpretability and accuracy. METHODS: We design a framework adopting Rule-based Representation Learner (RRL) to build interpretable diagnostic rules based on the cognitive tests selected by doctors. According to the visualization and test results, doctors can easily select the final rules after analysis and trade-off. Our framework is verified on the Alzheimer's Disease Neuroimaging Initiative (ADNI) dataset (n = 606) and Peking Union Medical College Hospital (PUMCH) dataset (n = 375). RESULTS: The predictive or diagnostic rules learned by RRL offer a better trade-off between accuracy and model interpretability than other representative machine learning models. For mild cognitive impairment (MCI) conversion prediction, the cognitive-test-based rules achieve an average area under the curve (AUC) of 0.904 on ADNI. For dementia diagnosis on subjects with a normal Mini-Mental State Exam (MMSE) score, the learned rules achieve an AUC of 0.863 on PUMCH. The visualization analyses also verify the good interpretability of the learned rules. CONCLUSION: With the help of doctors and RRL, we can obtain predictive and diagnostic rules for dementia with high accuracy and good interpretability even if only cognitive tests are used.
