Psychiatric morbidity in children with KCNJ11 neonatal diabetes

• Published in: Diabetic medicine 2016-10, Vol.33 (10), p.1387-1391
• Main Authors: Bowman, P., Broadbridge, E., Knight, B. A., Pettit, L., Flanagan, S. E., Reville, M., Tonks, J., Shepherd, M. H., Ford, T. J., Hattersley, A. T.
• Format: Article
• Language: English
• Subjects: Adenosine triphosphatase; Adolescent; Amino Acid Substitution; Attention Deficit Hyperactivity Disorder; Behavior disorders; Child; Child Behavior Disorders - complications; Child Behavior Disorders - epidemiology; Child Behavior Disorders - genetics; Collaboration; Comorbidity; Diabetes; Diabetes Mellitus - epidemiology; Diabetes Mellitus - genetics; Diabetes Mellitus - psychology; Families & family life; Female; Humans; Infant, Newborn; Infant, Newborn, Diseases - genetics; Male; Morbidity; Mutation; Mutation, Missense; Neurodevelopmental Disorders - complications; Neurodevelopmental Disorders - epidemiology; Neurodevelopmental Disorders - genetics; Neurologic Manifestations; Potassium; Potassium Channels, Inwardly Rectifying - genetics; Short Report: Educational and Psychological Aspects
• ISSN: 0742-3071; 1464-5491
• DOI: 10.1111/dme.13135

Aims Mutations 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. Methods The 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. Results Strengths 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. Conclusions Systematic 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. What's new? This is the first study to systematically assess psychiatric morbidity in people with KCNJ11 mutations, using validated, standardized diagnostic tools. The data show that KCNJ11 mutations, in addition to causing neonatal diabetes, also cause psychiatric disorders that are clinically unrecognized but have high impact on families. This research highlights the need for early assessment and an integrated and collaborative approach to clinical care in people with KCNJ11 neonatal diabetes.