Neuropsychological impairments in children with KCNJ11 neonatal diabetes.

Abstract

We support the findings of Carmody et al. [1], who offered new insights into the neurological phenotype of people with KCNJ11 neonatal diabetes. Neurological features result from the KATP channel affected by these mutations being expressed in the brain as well as the pancreas [2]. Previous work has characterized developmental delay associated with specific mutations, for example, V59M, known as developmental delay, epilepsy and neonatal diabetes (DEND) syndrome [3,4]. Affected individuals also have impaired visuo-motor performance [5] and psychiatric (predominantly neurodevelopmental) disorders [6]. Carmody et al. described neuropsychological impairments in children with KCNJ11 mutations and compared their cognitive functioning with unaffected sibling controls, concluding that affected children without global developmental delay had lower IQs and performed worse on a range of assessments of academic achievement and executive function than their unaffected siblings [1]. This article is protected by copyright. All rights reserved.