Impact of Delayed Diagnosis in Dravet Syndrome

This segment examines the clinical consequences of delayed diagnosis and the evolving treatment landscape for Dravet syndrome. Dr. Joseph Sullivan explains that although earlier diagnosis is becoming more common, delays still occur and can expose children to contraindicated sodium channel–blocking medications that may worsen seizures and negatively affect long-term development. He highlights evidence showing that prolonged use of these medications can significantly impact cognitive outcomes, widening developmental gaps over time. The discussion underscores the importance of early diagnosis not only to avoid harmful treatments, but also to provide families with clarity, support, and a sense of community. Dr. Sullivan describes how recent advances have led to syndrome-specific therapies with well-characterized efficacy and safety profiles, allowing for more individualized and collaborative treatment planning. While seizure freedom remains difficult to achieve, reducing seizure severity and frequency is increasingly possible. The segment concludes with optimism around emerging disease-modifying therapies that aim to address the underlying cause of Dravet syndrome and potentially alter the long-term disease trajectory.