ArticleDiabetologia2020
Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.
Article in Diabetologia, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 42 citations in OpenAlex.
- A randomized trial of oral gamma aminobutyric acid (GABA) or the combination of GABA with glutamic acid decarboxylase (GAD) on pancreatic islet endocrine function in children with newly diagnosed type 1 diabetes.Nature communications · 2022Trial
- Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes.Diabetes · 2026Article
- Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.American journal of human genetics · 2026Article
- Children With Pancreatic Hypoplasia Experience Poor Weight Gain and Labile Diabetes but Low Incidence of DKA.The Journal of clinical endocrinology and metabolism · 2026Article
- Association of Individual or Family History of Autoimmune Disease With Future Development of Type 1 Diabetes.Diabetes/metabolism research and reviews · 2026Review
- Genetic risk in extremely early onset type 1 diabetes.medRxiv : the preprint server for health sciences · 2025Article
- Global perspectives on monogenic forms of diabetes.Diabetologia · 2025Review
- Diabetes mellitus polygenic risk scores: heterogeneity and clinical translation.Nature reviews. Endocrinology · 2025Review
- Diabetes and women's health.Journal of diabetes investigation · 2025Review
- Immune perturbations in human pancreas lymphatic tissues prior to and after type 1 diabetes onset.Nature communications · 2025Article
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- Type 1 Diabetes Genetic Risk Scores: History, Application and Future Directions.Current diabetes reports · 2025Review
- Blood samples collected under anesthesia can be used as a source of non-diseased controls for immune-based assays.Frontiers in immunology · 2025Article
- Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity.Journal of diabetes research · 2024Article
- Utility of genetic risk scores in type 1 diabetes.Diabetologia · 2023Review
- Age Ain't Nothing But a Number . . . or Is It?Diabetes care · 2023Article
- Review
- Article
- Extremely Early Appearance of Islet Autoantibodies in Genetically Susceptible Children.Pediatric diabetes · 2023Observational
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 2 countries.
Funding
Abstract
aims/hypothesisDiabetes diagnosed at <6 months of age is usually monogenic. However, 10-15% of affected infants do not have a pathogenic variant in one of the 26 known neonatal diabetes genes. We characterised infants diagnosed at <6 months of age without a pathogenic variant to assess whether polygenic type 1 diabetes could arise at early ages.
methodsWe studied 166 infants diagnosed with type 1 diabetes at <6 months of age in whom pathogenic variants in all 26 known genes had been excluded and compared them with infants with monogenic neonatal diabetes (n = 164) or children with type 1 diabetes diagnosed at 6-24 months of age (n = 152). We assessed the type 1 diabetes genetic risk score (T1D-GRS), islet autoantibodies, C-peptide and clinical features.
resultsWe found an excess of infants with high T1D-GRS: 38% (63/166) had a T1D-GRS >95th centile of healthy individuals, whereas 5% (8/166) would be expected if all were monogenic (p < 0.0001). Individuals with a high T1D-GRS had a similar rate of autoantibody positivity to that seen in individuals with type 1 diabetes diagnosed at 6-24 months of age (41% vs 58%, p = 0.2), and had markedly reduced C-peptide levels (median <3 pmol/l within 1 year of diagnosis), reflecting rapid loss of insulin secretion. These individuals also had reduced birthweights (median z score -0.89), which were lowest in those diagnosed with type 1 diabetes at <3 months of age (median z score -1.98). CONCLUSIONS/
interpretationWe provide strong evidence that type 1 diabetes can present before the age of 6 months based on individuals with this extremely early-onset diabetes subtype having the classic features of childhood type 1 diabetes: high genetic risk, autoimmunity and rapid beta cell loss. The early-onset association with reduced birthweight raises the possibility that for some individuals there was reduced insulin secretion in utero. Comprehensive genetic testing for all neonatal diabetes genes remains essential for all individuals diagnosed with diabetes at <6 months of age. Graphical abstract.
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