199 - Adverse Childhood Experiences and the Development of Down Syndrome Regression Disorder

Friday, April 28, 2023

5:15 PM – 7:15 PM ET

Poster Number: 199
Publication Number: 199.142

Jonathan D. Santoro, Division of Neurology, Children's Hospital Los Angeles and Keck School of Medicine of USC, Los Angeles, CA, United States; Sarah Wang, Keck School of Medicine of the University of Southern California, walnut, CA, United States; Lina Patel, Children's Hospital Colorado, Aurora, CO, United States; Elise M. Sannar, Children's Hospital Colorado, Aurora, CO, United States; Mellad M. Khoshnood, USC - CHLA, Glendale, CA, United States; Natalie K. Boyd, Keck School of Medicine of the University of Southern California, Los Angeles, CA, United States; Lorena Mendez, Children's Hospital Los Angeles, Los Angeles, CA, United States; Noemi A. Spinazzi, UCSF Benioff Children's Hospital Oakland, Oakland, CA, United States; Eileen A. Quinn, The University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States; Michael Rafii, Keck School of Medicine of the University of Southern California, San Diego, CA, United States

Presenting Author(s)

Jonathan D. Santoro, MD

Director of Neuroimmunology
Division of Neurology, Children's Hospital Los Angeles and Keck School of Medicine of USC
Los Angeles, California, United States

Background: Down syndrome regression disorder (DSRD) is a clinical symptom cluster of acute or subacute neurocognitive regression in otherwise health persons with Down syndrome. Stressors are often found temporally associated with the onset of symptoms although limited investigations in to the link between stress and DSRD has been performed.

Objective: The objective of this study was to evaluate if adverse childhood experiences (ACEs) were more prevalent in children with DSRD than those with DS alone.

Design/Methods: A prospective, survey-based, cohort-based study was performed. Individuals with DSRD with onset of symptoms between age 10-30 years and DS alone were administered the ACEs questionnaire via an online REDCap survey.

Results: Individuals with DSRD were more likely to have a prior loss of family member (p=0.03, 95%CI: 1.04-2.54), live with someone who had problems with drinking or drugs (p=0.05, 95%CI: 1.00-5.35), and/or experiencing bullying (p=0.05, 95%CI: 1.00-3.39) prior to the onset of symptoms (median: 7 months). Individuals with DSRD were less likely to experience divorce/separation (p=0.05, 95%CI: 0.39-0.99), diagnosis of a family member with severe medical illness (p=0.02, 95%CI: 0.32-0.92), and having a family member in jail (p< 0.001, 95%CI: 0.04-0.43). Individuals with DSRD were more likely to report three or more ACEs (52, 33%) compared to those with DS alone (39, 22%) (p=0.02, 95%CI: 1.08-2.87). ACEs were not predictive of response to particular therapeutic interventions.

Conclusion(s): Individuals with DSRD were more likely to experience ACEs than those with DS alone. Although stressors may be associated with the development of DSRD particular ACEs may not be predictive of the onset of disease.