Valente Kette D, Melo Fernanda, Marin Rachel, Vega Gustavo, Neves-Borg Ana, Spagnol Bianca, Montenegro Maria Augusta, Vincentiis Silvia
University of São Paulo Medical School - Clinic Hospital (HCFMUSP), São Paulo, Brazil.
University of São Paulo Medical School (FMUSP), São Paulo, Brazil.
Epilepsia Open. 2024 Dec;9(6):2164-2172. doi: 10.1002/epi4.13031. Epub 2024 Sep 9.
This study aims to determine the current state of CDD diagnosis and epilepsy treatment in an upper-middle-income country.
Forty-seven families of the Brazilian CDD Association were invited to participate in an online survey to gather information about the diagnosis and treatment of epilepsy.
Forty-three families (91.5%) of unrelated patients with confirmed genetic diagnosis of CDD participated. The median age was 7 years (ranging from 1.3-25 years) and the male: female ratio was 1:6. Early and severe epilepsy started during infancy in 74.4%. Seizures occurred daily in 61.9% and 83.7% had clusters of seizures. The mean age of diagnosis was 3.3 years (ranging from 37 days to 16 years), and younger patients had an earlier diagnosis (p < 0.001). Patients were seen by an average of 4.4 physicians (1-15) before the diagnosis. The most relevant obstacles to genetic testing were cost (55.8%) and late requests by physicians (27.9%). At the moment of the assessment, patients received a mean of 3.6 ASMs/day (ranging from 1 to 5). Thirty-four (79.1%) caregivers reported side effects throughout life, including life-threatening events in 16.3%.
Based on our findings, a sense of urgency for genetic assessment implementation is evident since the delay in the diagnosis with unnecessary use of resources and excessive polytherapy with serious side effects cause a higher burden to the healthcare system, caregivers, and patients.
In this study, we assessed the diagnosis and treatment of patients with genetically confirmed DEE-CDKL5 from the Brazilian Association of CDD with an online survey. Caregivers reported a long delay in the diagnosis associated with cost and late referral to genetic testing, considered the last resource for one-third of the patients. Patients received a high number of ASM, mainly under polytherapy, with serious side effects. Although it is promising that younger patients received earlier diagnosis, public policies for genetic testing are needed to improve CDD patients' care.
本研究旨在确定一个中高收入国家的CDD诊断和癫痫治疗的现状。
巴西CDD协会的47个家庭受邀参与一项在线调查，以收集有关癫痫诊断和治疗的信息。
43个已确诊患有CDD的无血缘关系患者家庭（91.5%）参与了调查。中位年龄为7岁（范围为1.3 - 25岁），男女比例为1:6。74.4%的患者在婴儿期开始出现早期和严重癫痫。61.9%的患者每天发作，83.7%的患者有癫痫发作簇。诊断的平均年龄为3.3岁（范围为37天至16岁），年龄较小的患者诊断较早（p < 0.001）。在确诊前，患者平均看过4.4名医生（1 - 15名）。基因检测最主要的障碍是费用（55.8%）和医生转诊延迟（27.9%）。在评估时，患者平均每天服用3.6种抗癫痫药物（范围为1至5种）。34名（79.1%）照料者报告患者终生有副作用，其中16.3%发生过危及生命的事件。
基于我们的研究结果，实施基因评估的紧迫感显而易见，因为诊断延迟、资源使用不当以及多药联合治疗且副作用严重，给医疗系统、照料者和患者带来了更高的负担。
在本研究中，我们通过在线调查评估了巴西CDD协会基因确诊的DEE - CDK5患者的诊断和治疗情况。照料者报告诊断存在长时间延迟，与费用和基因检测转诊延迟有关，三分之一的患者将基因检测视为最后的手段。患者服用大量抗癫痫药物，主要是多药联合治疗，且有严重副作用。尽管年龄较小的患者诊断较早是个好现象，但仍需要基因检测的公共政策来改善CDD患者的护理。
