Abstracts

Rationale:
Dravet Syndrome (DS) is a rare, treatment-resistant, epileptic encephalopathy that usually starts in the first year of life. The intractable seizures adversely impair cognition, and lead to gradual and chronic loss of cognitive abilities over time. Our objective was to evaluate the adaptive behavioral and skill changes in patients with DS over a five-year span.
Method:
This is a prospective study. Patients with DS of the Adult Epilepsy Genetics Clinic at the Toronto Western Hospital were identified by chart review. In 2014, we conducted an adaptive behaviour and skills assessment using the Vinelands Adaptive Behaviour Scales (VABS) questionnaire, that examined Communication (receptive, expressive, written), Daily Living (personal, domestic, community), and Socialization (interpersonal relationships, play and leisure time, and coping skills) skills. We also examined an overall Adaptive Behaviour Composite (ABC) score. In 2019, we repeated the questionnaire amongst the same individuals, and compared the scores.
Results:
Overall, we saw a trend decrease in ABC scores (p< 0.1) over this five-year period. We observed declining trends in the Communication skills (p< 0.08), and Daily Living skills (p< 0.08) domains. The domestic subdomain of Daily Living skills (ability to perform household tasks) decreased significantly (p< 0.03). Interestingly, while the Socialization skills were primarily preserved, coping skills reported an increasing trend (p< 0.07).
Conclusion:
DS adults displayed an overall decline in adaptive behaviour and skills, particularly in their communication and daily living skills. Interestingly, as these patients have significant cognitive impairment, they displayed a decline of acquired behaviours relative to their own baseline, observed as early as in their 20’s. Future steps include re-examining this cohort in 5 more years, as well as assessing a larger cohort.
Funding:
:Dravet Canada and Dravet Syndrome Foundation, USA