Background: Neonatal diabetes is rare, but most commonly caused by activating heterozygous mutations in either of the KATP channel genes KCNJ11or ABCC8. While a large fraction of those with KATP-NDM exhibit a spectrum of neurodevelopmental difficulties, patients and families also describe difficulties with sleep that has not been well-characterized.
Methods: To assess sleep duration and quality, all participants wore an actigrapher (Actiwatch® 2) for at least 7 full days and completed sleep questionnaires based on age: parents of 0-11 years old participants completed the Children’s Sleep Habits Questionnaire (CSHQ), while participants 12+ years completed the Pittsburgh Sleep Quality Index (PSQI) themselves.
Results: 12 affected individuals and 5 sibling controls completed all components of the study: 0-11 yo: 7 affected, 3 controls; 12+ yo: 5 affected, 2 controls. Affected participants had significantly less total sleep time of 433.4 minutes/night, compared to 506.2 minutes/night in controls (p = 0.003). All affected 0-11 yo individuals exhibited sleep disturbance on CSHQ (qualified as a score greater than 41). In contrast, affected 12+ yo individuals did not report significantly greater global sleep scores on the PSQI compared to controls; however, those with R201H/C mutations reported a sleep disturbance score that trended towards being significantly greater than those with V59M/A mutations (55 vs. 46; p = 0.0525).
Conclusion: Objective total sleep time was reduced in KATP-NDM, with parents reporting greater sleep difficulties than self-reported measures by older affected individuals. Neurodevelopmental supports in individuals with KATP-NDM should include assessment of sleep, but more study is required to further characterize specific disruptions that may depend on age and/or specific mutations.
P. Tian: None. S. Choppara: 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)