Authors :
Presenting Author: Aurora Tose, BS – University of Sao Paulo (USP)
Barbara Fialho, MD – University of Sao Paulo (USP); fernanda Melo, MD – University of Sao Paulo (USP); Claudia Nogueira, Msc – Dravet Association Brazil; Barbara Pereira, Msc – Dravet Association Brazil; Kette Valente, MD,PhD – University of Sao Paulo (USP); Gustavo Verga, MD – Student Master Degree, Psychiatry, University of Sao Paulo (USP); Silvia VIncentiis, MD,PhD – University of São Paulo; rachel Marin, MD – Student Master Degree, Psychiatry, University of Sao Paulo (USP)
Rationale: The guidelines for Dravet Syndrome (DS) were developed for high-income countries. Therefore, the standard diagnostic exams and the most effective treatment may be available in higher-resource settings. We conducted a national survey to assess the current diagnostic and care practices for Dravet Syndrome in Brazil.
Methods: The Dravet Study Group conducted a pilot study with Dravet Association representatives. After approval and modifications (three rounds), a 106-question online survey was conducted to gather data from families identified through the Brazil Dravet Association. The survey included questions about socio-demographic, epilepsy-related factors, diagnosis, treatment, and burden-driven factors.
Results:
Characteristics: A total of 139 caregivers (91.4% [127] of mothers) responded to the questionnaire regarding 140 patients. In this sample, 53.6% (75) were boys; the mean age was 9.1 years. The mean age of epilepsy onset was 5.26 months. Seizure frequency in the past three months is shown in Fig. 1. Status epilepticus occurred in 100 (85.47% [100/117]), and 52.5% (73/139) were admitted to an emergency room in the past 12 months.
Diagnosis: The mean number of physicians evaluating the patients before the diagnosis was 4.88 (ranging from one to 15). Only 8.6 % had the diagnosis with the first physician. The mean age at diagnosis was 4.5 years (0.42 to 24 years). The gap between the first seizure and the diagnosis was 4.04 years (ranging from 0.25 to 24).
In this sample, 96.4% (134/139) of patients had genetic testing (47.1% (63/134). Regarding genetic testing, 63 (45.3%) had WES, 56 (40.3%) had a genetic panel, and 16 (11.5%) had both exome and genetic panel. Cariotype and GCH-array were requested for 28 (20.1%) and 17 (12.2%) patients.
Treatment: