SAT083 Comparing Grit, Anxiety, And Social Responsiveness In KCNJ11-NDM And Their Sibling Controls
Authors: Desai Jui , Letourneau-Freiberg Lisa , Msall Michael , Scott Megan , Nicole Naylor Rochelle , Philipson Louis , Greeley Siri Atma W 
Published: October 2023

Disclosure: J. Desai: None. L. Letourneau-Freiberg: None. M. Msall: None. M. Scott: None. R.N. Naylor: None. L. Philipson: None. S.W. Greeley: None.

Background: Neonatal diabetes mellitus (NDM), diabetes with onset before 6-12 months of age, is most commonly caused from mutations in the ATP-dependent Potassium (KATP) channel genes: KCNJ11 (KCNJ11-NDM) or ABCC8. Because of brain expression of mutant KATP channels, a spectrum of neurodevelopmental difficulties have been described, such as developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, learning disorders, and Attention-deficit/hyperactivity disorder (ADHD). In order to understand more about specific challenges, we compared self- and parent/caregiver-reported grit, anxiety, and social responsiveness among participants with KCNJ11 mutations and their sibling controls. Methods: We recruited 12 families (12 KCNJ11-NDM participants and 10 sibling controls) through the University of Chicago Monogenic Diabetes Registry (www.monogenicdiabetes.org). Affected participants and sibling controls, and in some cases their parent/caregiver, completed the SCARED/SCAARED (anxiety), SRS-2 (social responsiveness) and Grit Scale (grit) surveys. Nonparametric analyses were performed using the Mann-Whitney U-test for group comparisons. Results: Individuals with KCNJ11-NDM had significantly worse social responsiveness scores compared to sibling controls in both Total Social Responsiveness and 4/5 subscales including Social Awareness, Cognition, Communication, and Restricted Interests and Repetitive Behavior (p&lt;0.05), but no difference for Motivation. In terms of deficits in social interaction, 20% of KCNJ11-NDM participants had total SRS-2 T-scores in the mild range, 30% with scores in the moderate range, and 40% with scores in the severe range. 80% of control participants had total SRS-2 T-scores in normal range. Grit results were not significantly different between groups. Total anxiety scores and anxiety subscale scores were not significantly different between groups. Nevertheless, both participants with KCNJ11-NDM and sibling controls revealed greater levels of anxiety as a whole; 50% of KCNJ11-NDM participants (n=6) and 40% of unaffected controls (n=4) had mean total anxiety scores ≥ 25, indicating the possible presence of a clinical anxiety disorder. Conclusion: The prevalence of social interaction challenges was high among KCNJ11-NDM participants, highlighting the importance of early clinical assessment and support for such problems. Results of the SRS-2 Motivation subscale and Grit, which measure more intrinsic levels of personality, may suggest that individuals with KCNJ11-NDM exhibit intrinsic motivation and grit. Elevated overall anxiety levels in both KCNJ11-NDM participants and sibling controls suggest the need for early assessment and supportive interventions for families affected by KCNJ11-NDM.

Presentation: Saturday, June 17, 2023