ArticleDiabetic medicine : a journal of the British Diabetic Association2016
Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls.
Article in Diabetic medicine : a journal of the British Diabetic Association, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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20 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Intellectual Disability and Potassium Channelopathies: A Systematic Review.Frontiers in genetics · 2020Pooled it
- Anxiety, social responsiveness, and grit among patients with KCNJ11-related neonatal diabetes compared to unaffected siblings.Acta diabetologica · 2026Article
- Diagnosis and Treatment of Neonatal Diabetes Caused by ATP-Channel Mutations: Genetic Insights, Sulfonylurea Therapy, and Future Directions.Children (Basel, Switzerland) · 2025Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Growth and development in monogenic forms of neonatal diabetes.Current opinion in endocrinology, diabetes, and obesity · 2022Review
- Impact of glucose metabolism on the developing brain.Frontiers in endocrinology · 2022Review
- Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes.Scientific reports · 2021Article
- Genetic Spectrum of Neonatal Diabetes.Balkan journal of medical genetics : BJMG · 2020Article
- Update of variants identified in the pancreatic β-cell KHuman mutation · 2020Review
- Recent Advances in Neonatal Diabetes.Diabetes, metabolic syndrome and obesity : targets and therapy · 2020Review
- Uncommon Presentations of Diabetes: Zebras in the Herd.Clinical diabetes : a publication of the American Diabetes Association · 2020Article
- 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
- Monogenic diabetes: the impact of making the right diagnosis.Current opinion in pediatrics · 2018Review
- Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.The lancet. Diabetes & endocrinology · 2018Article
- Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.Current diabetes reports · 2018Review
- Congenital forms of diabetes: the beta-cell and beyond.Current opinion in genetics & development · 2018Review
- Not quite type 1 or type 2, what now? Review of monogenic, mitochondrial, and syndromic diabetes.Reviews in endocrine & metabolic disorders · 2018Review
- Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.Clinics in perinatology · 2018Review
- Future Roadmaps for Precision Medicine Applied to Diabetes: Rising to the Challenge of Heterogeneity.Journal of diabetes research · 2018Review
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12 authors at 2 institutions in 1 country.
Funding
Abstract
aimsKCNJ11-related diabetes is the most common form of permanent neonatal diabetes and has been associated with a spectrum of neurodevelopmental problems. We compared neurodevelopmental outcomes in patients with KCNJ11 mutations and their sibling controls.
methodsThrough our Monogenic Diabetes Registry (http://monogenicdiabetes.uchicago.edu/), we evaluated 23 patients with KCNJ11 mutations with (n = 9) and without (n = 14) global developmental delay successfully treated with sulfonylurea and 20 healthy sibling controls, using a battery of targeted neuropsychological and behavioural assessments with scaled scores that are comparable across a wide range of ages.
resultsPatients with KCNJ11-related diabetes without global developmental delay had significant differences compared with sibling controls on a range of assessments including IQ, measures of academic achievement and executive function. KCNJ11 patients with global delay exhibited significant differences in behavioural symptoms with a tendency to avoid social contact and displayed a reduced ability to adapt to new circumstances. Parents reported more immature behaviour, gross mood swings, bizarre thoughts, other unusual and severe behaviours, and there were also significant deficits in all subdomains of daily living skills.
conclusionsThis series represents the largest and most comprehensive study of neuropsychological and behavioural dysfunction of individuals with KCNJ11 diabetes and is the first to compare outcome with sibling controls. Our data demonstrate the variety of neurodevelopmental problems seen in those with KCNJ11 mutations, even in those without recognized global developmental delays. These data can be used to counsel families and guide structured neurodevelopmental assessments and treatments based on the initial genetic diagnosis in patients with neonatal diabetes.
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