ArticleDiabetologia2006
Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.
Article in Diabetologia, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05751525 (Impact of Timing of Initiation of Sulphonylurea Therapy on Neurodevelopmental Outcomes in Individuals With Intermediate Developmental Delay, Epilepsy and Neonatal Diabetes), which is not on this map. Cited by 52 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Impact of Timing of Initiation of Sulphonylurea Therapy on Neurodevelopmental Outcomes in Individuals With Intermediate Developmental Delay, Epilepsy and Neonatal Diabetes (iDEND) Syndrome Due to the V59M Mutation in the KCNJ11 Gene
Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 132 citations in OpenAlex.
- Pharmacogenetics of glucose-lowering drug treatment: a systematic review.Molecular diagnosis & therapy · 2007Pooled it
- Article
- Long-Term Seizure and Neurodevelopmental Outcomes of Three Children with Developmental Delay, Epilepsy, and Neonatal Diabetes (DEND) Syndrome after Early Initiation of Sulphonylurea.Annals of Indian Academy of Neurology · 2025Article
- Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan.Pediatric diabetes · 2024Article
- Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders.Brain sciences · 2023Article
- Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology.Journal of pediatric genetics · 2023Article
- Personalized Therapeutics for KAnnual review of pharmacology and toxicology · 2023Review
- Case report: Neonatal diabetes mellitus caused byFrontiers in neurology · 2023Article
- Cognitive deficits and impaired hippocampal long-term potentiation in KProceedings of the National Academy of Sciences of the United States of America · 2021Article
- Parental experiences of a diagnosis of neonatal diabetes and perceptions of newborn screening for glucose: a qualitative study.BMJ open · 2020Article
- Recent Advances in Neonatal Diabetes.Diabetes, metabolic syndrome and obesity : targets and therapy · 2020Review
- Neonatal Diabetes Mellitus.Frontiers in pediatrics · 2020Review
- Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.Current diabetes reports · 2019Review
- Cognitive, Neurological, and Behavioral Features in Adults WithDiabetes care · 2019Article
- Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 MutationJournal of clinical research in pediatric endocrinology · 2018Article
- Hypoglycemia in sulfonylurea-treated KCNJ11-neonatal diabetes: Mild-moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures.Pediatric diabetes · 2018Article
- Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.Clinics in perinatology · 2018Review
- ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes.Pediatric diabetes · 2017Article
- Association of type 2 diabetes susceptibility loci with peripheral nerve function in a Chinese population with diabetes.Journal of diabetes investigation · 2017Article
- Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls.Diabetic medicine : a journal of the British Diabetic Association · 2016Article
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
Abstract
aims/hypothesisActivating mutations in the KCNJ11 gene encoding the Kir6.2 subunit of the K(ATP) channels in pancreatic beta cells are a common cause of neonatal diabetes. One-third of patients also have developmental delay, which probably results from mutated K(ATP) channels in muscle, nerve and brain. Sulfonylureas, which bind to the sulfonylurea receptor 1 subunit of the K(ATP) channel, can replace insulin injections in patients with KCNJ11 mutations. The aim of this study was to investigate the long-term outcome and impact on neurological features of sulfonylurea treatment.
methodsWe report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M.
resultsGlibenclamide (glyburide) treatment was started at 23 months and resulted in insulin being discontinued, lower overall glycaemia, reduced glucose fluctuations and reduced hypoglycaemia. Good control (HbA(1c) 6.5%) was maintained 2 years after discontinuing insulin, despite a reduction in the glibenclamide dose (from 0.41 to 0.11 mg.kg(-1).day(-1)). Within 1 month of starting glibenclamide there was marked improvement in motor function, resulting in the patient progressing from being unable to stand unaided to walking independently, but there was no improvement in mental function. CONCLUSIONS/
interpretationThis 2-year follow-up of a patient highlights that sulfonylurea treatment can result in prolonged, excellent glycaemic control and may improve motor features, but not mental features, associated with KCNJ11 mutations. This suggests that the neurological actions of sulfonylurea are initially principally on peripheral (nerve or muscle) rather than on central (brain) K(ATP) channels. Early molecular diagnosis is important in patients with neonatal diabetes and neurological features.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.