Expert system for the diagnosis of hereditary metabolic diseases accompanied by mental disorders in children
https://doi.org/10.21508/1027-4065-2021-66-2-85-91
Abstract
Objective. To create a computer support system for pre-laboratory diagnosis of hereditary metabolic diseases with mental pathology.
Material and methods. The authors used numerous literary sources to extract data for intelligent system. The initially formed database was supplemented by expert assessments for certain categories of age groups of children.
Results. The experts determined the modality, confidence factors for the timing of manifestation and severity of signs for each clinical form at certain age periods. In the course of the study the authors built the models for a comprehensive assessment of signs and an integral assessment of diseases. The diagnostic algorithm is included in the database. It is used to compare the proposed hypotheses. The authors implemented a prototype of an expert diagnostic system based on a mucopolysaccharidosis model, which demonstrated 90% efficiency in a control sample of 20 patients.
Keywords
children,
mental retardation,
lysosomal storage diseases,
mucopolysaccharidoses,
pre-laboratory diagnostics,
certainty factor,
sign modality coefficient,
expert diagnostic system,
computer-aided design
Supporting agencies: The study was carried out within the framework of state Funding «Artificial Intelligence Systems, Knowledge Extraction and Text Analysis 2019–2023» (No. 0063-2019-0001).
About the Authors
B. A. Kobrinskiy
Federal Research Center “Computer Science and Control”
Russian Federation
Russian Federation
Moscow
N. A. Blagosklonov
Federal Research Center “Computer Science and Control”
Russian Federation
Russian Federation
Moscow
N. S. Demikova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University; Russian Medical Academy of Continuous Professional Education
Russian Federation
Russian Federation
Moscow
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For citations:
Kobrinskiy B.A., Blagosklonov N.A., Demikova N.S. Expert system for the diagnosis of hereditary metabolic diseases accompanied by mental disorders in children. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2021;66(2):85-91. (In Russ.) https://doi.org/10.21508/1027-4065-2021-66-2-85-91
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