title: Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas.
abstract: OBJECTIVE
  To assess performance on an age-standardized neuromotor coordination task among sulfonylurea-treated KCNJ11-related neonatal diabetic patients.
  
  
  METHODS
  Nineteen children carrying KCNJ11 mutations associated with isolated diabetes (R201H; n = 8), diabetes with neurodevelopmental impairment (V59M or V59A [V59M/A]; n = 8), or diabetes not consistently associated with neurodevelopmental disability (Y330C, E322K, or R201C; n = 3) were studied using the age-standardized Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI).
  
  
  RESULTS
  Although R201H subjects tested in the normal range (median standard score = 107), children with V59M/A mutations had significantly lower than expected VMI standard scores (median = 49). The scores for all three groups were significantly different from each other (P = 0.0017). The age of sulfonylurea initiation was inversely correlated with VMI scores in the V59M/A group (P < 0.05).
  
  
  CONCLUSIONS
  Neurodevelopmental disability in KCNJ11-related diabetes includes visuomotor problems that may be ameliorated by early sulfonylurea treatment. Comprehensive longitudinal assessment on larger samples will be imperative.
authors.affiliation: Section of Developmental and Behavioral Pediatrics and John P. Kennedy Jr. Intellectual and Developmental Disabilities Research Center, Department of Pediatrics, Comer Children’s Hospital and Pritzer School of Medicine, The University of Chicago, Chicago, Illinois, USA.
authors.forename: Reshma P
authors.initials: RP
authors.lastname: Shah
authors.forename: Karen
authors.initials: K
authors.lastname: Spruyt
authors.forename: Brigette C
authors.initials: BC
authors.lastname: Kragie
authors.forename: Siri Atma W
authors.initials: SA
authors.lastname: Greeley
authors.forename: Michael E
authors.initials: ME
authors.lastname: Msall
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics; D003920:Diabetes Mellitus / Q000188:drug therapy* / Q000235:genetics; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D008297:Male; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D011596:Psychomotor Disorders / Q000235:genetics*; D011597:Psychomotor Performance / Q000502:physiology*; D013453:Sulfonylurea Compounds / Q000627:therapeutic use*; D055815:Young Adult; D000099161:Kcnj11 Channel
chemical_list: D024661:Potassium Channels, Inwardly Rectifying; D013453:Sulfonylurea Compounds; D000099161:Kcnj11 Channel