Clinical prediction model for MODY type diabetes mellitus in children
BACKGROUND: MODY (maturity-onset diabetes of the young) is a rare monogenic form of diabetes mellitus, the gold standard of diagnosis is mutations detection in the genes responsible for the development of this form diabetes. Genetic test is expensive and takes a lot of time. The diagnostic criteria...
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| Format: | Article |
| Language: | English |
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Endocrinology Research Centre
2024-03-01
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| Series: | Сахарный диабет |
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| Online Access: | https://www.dia-endojournals.ru/jour/article/view/13091 |
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| author | D. N. Laptev E. A. Sechko E. M. Romanenkova I. A. Eremina O. B. Bezlepkina V. A. Peterkova N. G. Mokrysheva |
| author_facet | D. N. Laptev E. A. Sechko E. M. Romanenkova I. A. Eremina O. B. Bezlepkina V. A. Peterkova N. G. Mokrysheva |
| author_sort | D. N. Laptev |
| collection | DOAJ |
| description | BACKGROUND: MODY (maturity-onset diabetes of the young) is a rare monogenic form of diabetes mellitus, the gold standard of diagnosis is mutations detection in the genes responsible for the development of this form diabetes. Genetic test is expensive and takes a lot of time. The diagnostic criteria for MODY are well known. The development of clinical decision support system (CDSS) which allows physicians based on clinical data to determine who should have molecular genetic testing is relevant.AIM: Provided a retrospective analysis of clinical data of the patients with T1DM and MODY, from 0 to 18 years old, regardless of the duration of the disease to develop the model. Based on clinical data, a feedforward neural network (NN) was implemented - a multilayer perceptron.MATERIALS AND METHODS: Development of the most effective algorithm for predicting MODY in children based on available clinical indicators of 1710 patients with diabetes under the age of 18 years using a multilayer feedforward neural network.RESULTS: The sample consisted of 1710 children under the age of 18 years with T1DM (78%) and MODY (22%) diabetes. For the final configuration of NS the following predictors were selected: gender, age at passport age, age at the diagnosis with DM, HbA1c, BMI SDS, family history of DM, treatment. The performance (quality) assessment of the NN was carried out on a test sample (the area under the ROC (receiver operating characteristics) curve reached 0.97). The positive predictive value of PCPR was achieved at a cut-off value of 0.40 (predicted probability of MODY diabetes 40%). At which the sensitivity was 98%, specificity 93%, PCR with prevalence correction was 78%, and PCR with prevalence correction was 99%, the overall accuracy of the model was 94%.Based on the NN model, a CDSS was developed to determine whether a patient has MODY diabetes, implemented as an application.CONCLUSION: The clinical prediction model MODY developed in this work based on the NN, uses the clinical characteristic available for each patient to determine the probability of the patient having MODY. The use of the developed model in clinical practice will assist in the selection of patients for diagnostic genetic testing for MODY, which will allow for the efficient allocation of healthcare resources, the selection of personalized treatment and patient monitoring. |
| first_indexed | 2024-04-24T21:59:57Z |
| format | Article |
| id | doaj.art-6688e80c546a4a2b829c97878dc31dc0 |
| institution | Directory Open Access Journal |
| issn | 2072-0351 2072-0378 |
| language | English |
| last_indexed | 2025-03-14T16:34:06Z |
| publishDate | 2024-03-01 |
| publisher | Endocrinology Research Centre |
| record_format | Article |
| series | Сахарный диабет |
| spelling | doaj.art-6688e80c546a4a2b829c97878dc31dc02025-02-21T09:29:39ZengEndocrinology Research CentreСахарный диабет2072-03512072-03782024-03-01271334010.14341/DM1309111067Clinical prediction model for MODY type diabetes mellitus in childrenD. N. Laptev0E. A. Sechko1E. M. Romanenkova2I. A. Eremina3O. B. Bezlepkina4V. A. Peterkova5N. G. Mokrysheva6Endocrinology Research CentreEndocrinology Research CentreEndocrinology Research CentreEndocrinology Research CentreEndocrinology Research CentreEndocrinology Research CentreEndocrinology Research CentreBACKGROUND: MODY (maturity-onset diabetes of the young) is a rare monogenic form of diabetes mellitus, the gold standard of diagnosis is mutations detection in the genes responsible for the development of this form diabetes. Genetic test is expensive and takes a lot of time. The diagnostic criteria for MODY are well known. The development of clinical decision support system (CDSS) which allows physicians based on clinical data to determine who should have molecular genetic testing is relevant.AIM: Provided a retrospective analysis of clinical data of the patients with T1DM and MODY, from 0 to 18 years old, regardless of the duration of the disease to develop the model. Based on clinical data, a feedforward neural network (NN) was implemented - a multilayer perceptron.MATERIALS AND METHODS: Development of the most effective algorithm for predicting MODY in children based on available clinical indicators of 1710 patients with diabetes under the age of 18 years using a multilayer feedforward neural network.RESULTS: The sample consisted of 1710 children under the age of 18 years with T1DM (78%) and MODY (22%) diabetes. For the final configuration of NS the following predictors were selected: gender, age at passport age, age at the diagnosis with DM, HbA1c, BMI SDS, family history of DM, treatment. The performance (quality) assessment of the NN was carried out on a test sample (the area under the ROC (receiver operating characteristics) curve reached 0.97). The positive predictive value of PCPR was achieved at a cut-off value of 0.40 (predicted probability of MODY diabetes 40%). At which the sensitivity was 98%, specificity 93%, PCR with prevalence correction was 78%, and PCR with prevalence correction was 99%, the overall accuracy of the model was 94%.Based on the NN model, a CDSS was developed to determine whether a patient has MODY diabetes, implemented as an application.CONCLUSION: The clinical prediction model MODY developed in this work based on the NN, uses the clinical characteristic available for each patient to determine the probability of the patient having MODY. The use of the developed model in clinical practice will assist in the selection of patients for diagnostic genetic testing for MODY, which will allow for the efficient allocation of healthcare resources, the selection of personalized treatment and patient monitoring.https://www.dia-endojournals.ru/jour/article/view/13091diabetes mellitus in childrenmodymonogenic diabetes mellitusclinical decision support systemmody prediction model |
| spellingShingle | D. N. Laptev E. A. Sechko E. M. Romanenkova I. A. Eremina O. B. Bezlepkina V. A. Peterkova N. G. Mokrysheva Clinical prediction model for MODY type diabetes mellitus in children Сахарный диабет diabetes mellitus in children mody monogenic diabetes mellitus clinical decision support system mody prediction model |
| title | Clinical prediction model for MODY type diabetes mellitus in children |
| title_full | Clinical prediction model for MODY type diabetes mellitus in children |
| title_fullStr | Clinical prediction model for MODY type diabetes mellitus in children |
| title_full_unstemmed | Clinical prediction model for MODY type diabetes mellitus in children |
| title_short | Clinical prediction model for MODY type diabetes mellitus in children |
| title_sort | clinical prediction model for mody type diabetes mellitus in children |
| topic | diabetes mellitus in children mody monogenic diabetes mellitus clinical decision support system mody prediction model |
| url | https://www.dia-endojournals.ru/jour/article/view/13091 |
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