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.
Download PDF or read online at the Russian Bulletin of Perinatology and Pediatrics journal (in Russian): https://www.ped-perinatology.ru/jour/article/view/1378/1077
Publication at Scopus: Link
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.