Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosis
dc.contributor.author | Shields, B | |
dc.contributor.author | Carlsson, A | |
dc.contributor.author | Patel, K | |
dc.contributor.author | Knupp, J | |
dc.contributor.author | Kaur, A | |
dc.contributor.author | Johnston, D | |
dc.contributor.author | Colclough, K | |
dc.contributor.author | Elding Larsson, H | |
dc.contributor.author | Forsander, G | |
dc.contributor.author | Samuelsson, U | |
dc.contributor.author | Hattersley, A | |
dc.contributor.author | Ludvigsson, J | |
dc.date.accessioned | 2024-05-14T13:24:48Z | |
dc.date.issued | 2024-05-08 | |
dc.date.updated | 2024-05-07T08:13:07Z | |
dc.description.abstract | Maturity Onset Diabetes of the Young (MODY) is a young-onset, monogenic form of diabetes without needing insulin treatment. Diagnostic testing is expensive. To aid decisions on who to test, we aimed to develop a MODY probability calculator for paediatric cases at the time of diabetes diagnosis, when the existing “MODY calculator” cannot be used. Firth logistic regression models were developed on data from 3541 paediatric patients from the Swedish ‘Better Diabetes Diagnosis’ (BDD) population study (n= 46 (1.3%) MODY (HNF1A, HNF4A, GCK)). Model performance was compared to using islet autoantibody testing. HbA1c, parent with diabetes, and absence of polyuria were signifcant independent predictors of MODY. The model showed excellent discrimination (c-statistic= 0.963) and calibrated well (Brier score= 0.01). MODY probability > 1.3% (ie. above background prevalence) had similar performance to being negative for all 3 antibodies (positive predictive value (PPV)= 10% v 11% respectively i.e. ~ 1 in 10 positive test rate). Probability > 1.3% and negative for 3 islet autoantibodies narrowed down to 4% of the cohort, and detected 96% of MODY cases (PPV= 31%). This MODY calculator for paediatric patients at time of diabetes diagnosis will help target genetic testing to those most likely to beneft, to get the right diagnosis. | en_GB |
dc.description.sponsorship | Diabetes UK | en_GB |
dc.description.sponsorship | Wellcome Trust | en_GB |
dc.description.sponsorship | National Institute for Health and Care Research (NIHR) | en_GB |
dc.identifier.citation | Vol. 14, article 10589 | en_GB |
dc.identifier.doi | https://doi.org/10.1038/s41598-024-60160-0 | |
dc.identifier.grantnumber | 21/0006328 | en_GB |
dc.identifier.grantnumber | 219606/Z/19/Z | en_GB |
dc.identifier.uri | http://hdl.handle.net/10871/135937 | |
dc.identifier | ORCID: 0000-0003-3785-327X (Shields, Beverley) | |
dc.language.iso | en | en_GB |
dc.publisher | Nature Research | en_GB |
dc.relation.source | Data availability: BDD data involved in this analyses are available after reasonable request and ethical approval from the senior author (JL) upon approval of the BDD steering group. ADDRESS-2 data access is available via a management committee | en_GB |
dc.rights | © The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. | en_GB |
dc.title | Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosis | en_GB |
dc.type | Article | en_GB |
dc.date.available | 2024-05-14T13:24:48Z | |
dc.identifier.issn | 2045-2322 | |
dc.description | This is the final version. Available on open access from Nature Research via the DOI in this record. | en_GB |
dc.identifier.journal | Scientific Reports | en_GB |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | en_GB |
dcterms.dateAccepted | 2024-04-19 | |
dcterms.dateSubmitted | 2023-11-22 | |
rioxxterms.version | VoR | en_GB |
rioxxterms.licenseref.startdate | 2024-04-19 | |
rioxxterms.type | Journal Article/Review | en_GB |
refterms.dateFCD | 2024-05-07T08:13:18Z | |
refterms.versionFCD | VoR | |
refterms.dateFOA | 2024-05-14T13:27:48Z | |
refterms.panel | A | en_GB |
refterms.dateFirstOnline | 2024-05-08 | |
exeter.rights-retention-statement | No |
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material. If material is not included in the article’s Creative Commons licence and your intended use is not
permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from
the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.