Background: Activating mutations in KCNJ11 or ABCC8 cause neonatal diabetes (NDM) as well as neurodevelopmental difficulties, related to expression of mutated KATP channels in pancreatic beta cells as well as brain. Even individuals with more mildly activating KCNJ11 mutations underperform on many neurodevelopmental measures compared to sibling controls; however, very little information has been available about those with ABCC8 mutations.
Methods: Surveys were used to assess attention-deficit hyperactivity disorder (ADHD), learning and behavioral challenges, sleep disturbances, and other related medical conditions in participants with ABCC8-related NDM from the University of Chicago Monogenic Diabetes Registry.
Results: Baseline data including diagnosis and treatment information, and relevant medical records, were available for 19 of 20 participants with ABCC8-NDM (10 permanent, 9 transient), while 10 completed the ADHD/behavior/sleep survey. Participants with ABCC8-related NDM showed a range of neurodevelopmental and behavioral challenges (Table 1).
Conclusions: Our results suggest that individuals with ABCC8-NDM have a high prevalence of neurodevelopmental, behavioral and sleep challenges and should therefore receive relevant ongoing evaluation and support to address these challenges.
N. Brown: None. S. Berry: None. A. Harris: None. L.R. Letourneau-Freiberg: None. S.W. Greeley: None.
American Diabetes Association (1-17-JDF-008 to S.A.W.G.); National Institute of Diabetes and Digestive and Kidney Diseases (R01DK104942, P30DK0205950); National Center for Advancing Translational Sciences (UL1TR002389)