Aim. To improve the efficiency of diagnosis of hereditary lysosomal storage diseases using an intelligent computerbased decision support system. Materials and methods. Descriptions of 35 clinical cases from the literature and depersonalized data of 52 patients from electronic health records were used as material for clinical testing of the computer diagnostic system. Knowledge engineering techniques have been used to extract, structure, and formalize knowledge from texts and experts. Literary sources included online databases and publications (in Russian and English). On this basis, for each clinical form of lysosomal diseases, textological cards were created, the information in which was corrected by experts. Then matrices were formed, including certainty factors (coefficients) for the manifestation, severity, and relevance of signs for each age group (up to 1 year, from 1 to 3 years inclusive, from 4 to 6 years inclusive, 7 years and older). The knowledge base of the expert system was implemented on the ontology network and included a disease model with reference variants of clinical forms. Decision making was carried out using production rules. Results. The expert computer system was developed to support clinical decision-making at the pre-laboratory stage of differential diagnosis of lysosomal storage diseases. The result of its operation was a ranked list of hypotheses, reflecting the degree of their compliance with reference descriptions of clinical disease forms in the knowledge base. Clinical testing was carried out on cases from literary sources and patient data from electronic health records. The criterion for assessing the effectiveness of disease recognition was inclusion of the verified diagnosis in the list of five hypotheses generated by the system. Based on the testing results, the accuracy was 87.4%. Conclusion. The expert system for the diagnosis of hereditary diseases has shown fairly high efficiency at the stage of compiling a differential diagnosis list at the pre-laboratory stage, which allows us to speak about the possibility of its use in clinical practice.
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Kobrinskii B. A., Blagosklonov N. A., Demikova N. S., Nikolaeva E. A., Kotalevskaya Y. Y., Melikyan L. P., Zinovieva Y. M. An artifiсial intelligence computer system for differential diagnosis of lysosomal storage diseases. Bulletin of Siberian Medicine. 2022;21(2):67-73.