Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic

Abstract

SYNGAP1-related disorder (SYNGAP1-RD) is a neurodevelopmental disorder that is commonly associated with epilepsy, autism spectrum disorder (ASD), and disruptive behaviors. In this study, behavior problems in 11 consecutive patients with SYNGAP1-RD are described and quantified based on a behavioral screening conducted within the context of a multi-disciplinary tertiary care specialty clinic visit. The behavioral phenotype was then compared to published samples of behavior problems in ASD and other genetic cause of epilepsy occurring in the context of neurodevelopmental disorders using results from the Aberrant Behavior Checklist-Community (ABC-C), an empirically derived outcome measure. We report common antecedent and consequent events surrounding problem behavior across individuals. Additionally, we report on the management approach of caregivers and the impact of problem behaviors on the family. Our results suggest a number of commonalities between behavioral profiles in SYNGAP1-RD with ASD and other genetic causes of developmental and epileptic encephalopathies, and also highlight severe behavior problems as a specific behavioral phenotype of SYNGAP1-RD.