title: Psychiatric morbidity in children with KCNJ11 neonatal diabetes.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: NIHR Exeter Clinical Research Facility, University of Exeter, Exeter, UK. P.Bowman@exeter.ac.uk.|Royal Devon and Exeter NHS Foundation Trust, Exeter, UK. P.Bowman@exeter.ac.uk.
authors.forename: P
authors.initials: P
authors.lastname: Bowman
authors.affiliation: Dame Hannah Rogers Trust, Newton Abbot, UK.
authors.forename: E
authors.initials: E
authors.lastname: Broadbridge
authors.affiliation: NIHR Exeter Clinical Research Facility, University of Exeter, Exeter, UK.|Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
authors.forename: B A
authors.initials: BA
authors.lastname: Knight
authors.affiliation: Dame Hannah Rogers Trust, Newton Abbot, UK.|Department of Psychology, University of Exeter, Exeter, UK.
authors.forename: L
authors.initials: L
authors.lastname: Pettit
authors.affiliation: Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
authors.forename: S E
authors.initials: SE
authors.lastname: Flanagan
authors.affiliation: Dame Hannah Rogers Trust, Newton Abbot, UK.|Department of Psychology, University of Exeter, Exeter, UK.
authors.forename: M
authors.initials: M
authors.lastname: Reville
authors.affiliation: Dame Hannah Rogers Trust, Newton Abbot, UK.
authors.forename: J
authors.initials: J
authors.lastname: Tonks
authors.affiliation: NIHR Exeter Clinical Research Facility, University of Exeter, Exeter, UK.|Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
authors.forename: M H
authors.initials: MH
authors.lastname: Shepherd
authors.affiliation: Institute of Health Research, University of Exeter Medical School, Exeter, UK.
authors.forename: T J
authors.initials: TJ
authors.lastname: Ford
authors.affiliation: NIHR Exeter Clinical Research Facility, University of Exeter, Exeter, UK.|Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
authors.forename: A T
authors.initials: AT
authors.lastname: Hattersley
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D002648:Child; D002653:Child Behavior Disorders / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D015897:Comorbidity; D003920:Diabetes Mellitus / Q000453:epidemiology / Q000235:genetics* / Q000523:psychology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D065886:Neurodevelopmental Disorders / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D009461:Neurologic Manifestations; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D000099161:Kcnj11 Channel
chemical_list: D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel