Authors :
Presenting Author: RACHEL Carvalho, MD – Hospital das Clínicas da Faculdade de Medicina da University of Sao Paulo (USP)
Kette Valente, MD, PhD – Clinics Hospital, Faculty of Medicine, University of Sao Paulo (USP); Aurora Fermo, Med Student – Faculty of Medicine, University of Sao Paulo (USP); Gustavo Vega, MD – Clinics Hospital, Faculty of Medicine, University of Sao Paulo (USP); Silvia Vincentiis, MD, PhD – Clinics Hospital, Faculty of Medicine, University of Sao Paulo (USP); Claudia Nogueira, Representative – Dravet Association - Brazil; Barbara Pereira, Representative – Dravet Association - Brazil
Rationale: The Dravet Syndrome (DS) Study Group of the University of Sao Paulo and the DS Association formed a Task Force (TF) to create a report on the current evaluation and care of DS patients in Brazil. The TF recognizes that epilepsy is still a crucial aspect of treatment, but non-seizure symptoms (NSS) can be challenging for patients and their caregivers. As a result, this study delves into NSS and treatment access by a large sample of individuals with genetically confirmed DS.
Methods: The TF administered an electronic survey to DS Association caregivers. Survey domains included epilepsy-related factors, diagnostic processes, treatment and healthcare utilization. In three weeks, 139 (77.7%) caregivers responded.
Results: This sample comprised 140 patients with DS (53.6% male; mean age of 9.1 years [1 to 31.8 yrs]). The mean age of seizure onset was 5.3 months (0.1 to 17 mo). All patients presented drug-resistant epilepsy and NSS.
Language/speech impairments occurred in 93.5% (129/138) and ranged from non-verbal communication 62.3% (86/138) to the use of simple sentences 22.5% (31/138) with restricted vocabulary. A total of 62.7% (86/137) patients had access to speech therapy.
Most (92.1% [128/139]) caregivers report ID; however, only 22.3% (31/139) had access to special education, and 45.7% (58/127) received learning support.
Motor impairments were reported in 91.3% (126/138) of patients, namely gait in 63.8% (88/138). A total of 68.1% (94/138) of patients received physiotherapy or occupational therapy for their impairments.
A total of 73% (100/137) of caregivers reported behavioural issues (aggressiveness, impulsivity, hypermotor behaviour). Only 27% (27/100) received pharmacological and 48% (48/100) non-pharmacological treatment.
Autistic symptoms/features were reported by 57.3% (78/136) patients, and 53.8% (42/78) received a standard behavioural approach.
A total of 45.7% (64/140) reported sleep problems, and 43.75% (28/64) used pharmacological treatment.
Conclusions: In a large sample of patients with DS, caregivers identified the most relevant NSS manifestations: language, cognition, motor, behaviour, autistic symptoms and sleep. Despite their high frequency and severity, most remain without treatment. The authors conclude that although NSS are of paramount importance in DS, knowledge and access to treatment are inadequate, contributing to the humanistic burden of DS.
Funding: No funding.