Abstract
AimsMutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic KATP channel, cause neonatal diabetes. KCNJ11 is also expressed in the brain, and ~ 20% of those affected have neurological features, which may include features suggestive of psychiatric disorder. No previous studies have systematically characterized the psychiatric morbidity in people with KCNJ11 neonatal diabetes. We aimed to characterize the types of psychiatric disorders present in children with KCNJ11 mutations, and explore their impact on families.MethodsThe parents and teachers of 10 children with neonatal diabetes due to KCNJ11 mutations completed the Strengths and Difficulties Questionnaire and the Development and Wellbeing Assessment. Strengths and Difficulties Questionnaire scores were compared with normative data. Diagnoses from the Development and Wellbeing Assessment were compared with known clinical diagnoses.ResultsStrengths and Difficulties Questionnaire scores indicated high levels of psychopathology and impact. Psychiatric disorder(s) were present in all six children with the V59M or R201C mutation, and the presence of more than one psychiatric disorder was common. Only two children had received a formal clinical diagnosis, with a further one awaiting assessment, and the coexistence of more than one psychiatric disorder had been missed. Neurodevelopmental (attention deficit hyperactivity disorder and autism) and anxiety disorders predominated.ConclusionsSystematic assessment using standardized validated questionnaires reveals a range of psychiatric morbidity in children with KCNJ11 neonatal diabetes. This is under‐recognized clinically and has a significant impact on affected children and their families. An integrated collaborative approach to clinical care is needed to manage the complex needs of people with KCNJ11 neonatal diabetes.
Highlights
Mutations in KCNJ11, which encodes the Kir6.2 subunit of the KATP channel, are the commonest cause of neonatal diabetes
Systematic assessment using standardized validated questionnaires reveals a range of psychiatric morbidity in children with KCNJ11 neonatal diabetes
An integrated collaborative approach to clinical care is needed to manage the complex needs of people with KCNJ11 neonatal diabetes
Summary
Mutations in KCNJ11, which encodes the Kir6.2 subunit of the KATP channel, are the commonest cause of neonatal diabetes. KCNJ11 is expressed in the brain as well as the pancreas [2], explaining why ~ 20% of people with mutations in this gene have a neurological phenotype known as DEND (developmental delay, epilepsy and neonatal diabetes) syndrome [3]. Even those without an overt neurological phenotype have recently been shown to have attention deficits and developmental coordination disorder on neuropsychological testing [4]. Diabetic Medicine published by John Wiley & Sons Ltd on behalf of Diabetes UK
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