Risk of type 1 diabetes at 3 years is high for initially multiple and single Ab+ IT and multiple Ab+ NT. Genetic predisposition, age, and male sex are significant risk factors for development of Ab+ in twins.
Although there have been clinical and genetic advances in monogenic diabetes, patients are still misdiagnosed. Improved insurance coverage of genetic testing is needed. The majority of data on monogenic diabetes has been collected from Caucasian populations, therefore, research studies should endeavor to include broader ethnic and racial diversity to provide comprehensive information for all populations.
Monogenic diabetes is a category of diabetes mellitus caused by a single gene mutation or chromosomal abnormality, usually sub-classified as either neonatal diabetes or maturity-onset diabetes of the young (MODY). Although monogenic diabetes affects up to 3.5% of all patients with diabetes diagnosed before age 30, misdiagnosis and/or improper treatment occurs frequently. The University of Chicago Monogenic Diabetes Registry, established in 2008, offers insight into the diagnosis, treatment, and natural history of individuals known or suspected to have monogenic diabetes. Those interested in participating in the Registry begin by completing a secure web-based registration form found on our website (http://monogenicdiabetes.uchicago.edu/registry/). Participants are then screened for eligibility and consented either by phone, video call, or in person. Relevant medical and family history is collected at baseline and then annually via surveys through our secure Research Electronic Data Capture (REDCap) database. The University of Chicago Monogenic Diabetes Registry has enrolled over 3800 participants from over 2000 families. Participants represent all 50 states and more than 20 different countries. To date, over 1100 participants have a known genetic cause of diabetes. While many Registry participants reported being referred through their diabetes care provider (54%), a large portion also learned about the Registry through web searching (24%), friends/family (18%), or other sources (13%). Around two-thirds of those with a known genetic cause had research-based genetic testing completed rather than clinical testing due to insurance coverage difficulties. Of those who were found to have monogenic diabetes, significant delays in diagnosis were identified, which highlights the need for increased access to clinical genetic testing covered by insurance companies specifically within the United States. Among genes that cause a MODY phenotype, GCK mutations were the most common (59%) followed by HNF1A mutations (28%), while mutations in KCNJ11 were the most common among genes that cause neonatal diabetes (35%) followed by INS (16%). Over the last decade, improvements in data collection for the University of Chicago Monogenic Diabetes Registry have resulted in increased knowledge of the natural history of monogenic diabetes, as well as a better understanding of the most effective treatments. The University of Chicago Monogenic Diabetes Registry serves as a valuable resource that will continue to provide evidence to support improved clinical care and patient outcomes in monogenic diabetes.
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. Disclosure P. Tian: None. S. Choppara: None. A. Harris: None. L.R. Letourneau-Freiberg: None. S.W. Greeley: None. Funding 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)
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