Rationale:
SYNGAP1-related neurodevelopmental disorder is a rare genetic condition characterized by epilepsy, cognitive impairment, and developmental delay. While the pediatric phenotype is increasingly recognized, functional profiles across age groups and severity levels—particularly the impact of Developmental and Epileptic Encephalopathy (DEE)—remain underexplored.
Methods:
We assessed adaptive functioning in 33 individuals (age range: 3–31 years; mean = 11.5, SD = 6.6; median = 10) with pathogenic SYNGAP1 variants using the Vineland Adaptive Behavior Scales – Third Edition (VABS-3). Raw scores from 13 subdomains (communication, daily living skills, socialization, motor, and behavior) were analyzed.
Descriptive statistics were computed across subdomains.
We examined bivariate associations between age and subdomain scores using Pearson correlation, and conducted multiple linear regression models adjusting for DEE status (present vs absent) to estimate age-related effects independent of clinical severity.
Results:
Participants with DEE (n = 18) had significantly lower scores than those without DEE (n = 15) in Receptive Communication (p = 0.008), Expressive Communication (p = 0.027), and Domestic Living Skills (p = 0.013).
The strongest correlation with age was observed for Personal Daily Living Skills (r = 0.63, p < 0.001).