What happens after the diagnosis of non-seizure symptoms in Dravet syndrome? A Brazilian national survey.

OBJECTIVE

Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy marked by drug-resistant epilepsy and core neurodevelopmental non-seizure symptoms (NSS). This study evaluated the access to supportive therapies and inclusive education for these neurodevelopmental disorders, based on caregiver-reported data.

METHODS

A cross-sectional, caregiver-reported online survey was distributed to families enrolled in the Brazil Dravet Association. It included questions addressing demographics, epilepsy, neurodevelopment, and access to rehabilitation.

RESULTS

Responses from 139 caregivers (91.4% mothers) caring for 140 individuals (138 unrelated) with DS were analyzed. The most frequently reported NSS included intellectual disability [92.1% (128/139], communication impairments [87.9% (116/132)], motor difficulties [77.3% (102/132)], behavioral problems [70.8% (97/137), and autism spectrum disorder [57.3% (78/136)]. Access to rehabilitation was variable: 72.5% (74/102) received physiotherapy or occupational therapy, 65.5% (76/116) received speech therapy, and 51.3% (40/78) of those with ASD had behavioral interventions. Thirty-one patients (24.2%) accessed specialized educational settings. Weekly sessions of motor rehabilitation were reported by 64.7% patients, speech therapy by 56% and behavioral therapy by 51.3%. Considering all patients that received any type of support, 83.9% (94/112) had access to the private system (integral or partially). NSS worsening with sodium channel blockers was reported by 85% of caregivers, with 33.4% describing permanent deterioration.

CONCLUSIONS

Although NSS are recognized in DS, access to adequate and equitable therapeutic and educational support remains limited showing a fragmented system. A multidisciplinary, system-integrated approach is needed to address unmet needs and mitigate long-term functional decline.