对于DEE-CDKL5诊断的漫长旅程:呼吁采取行动
Kette D Valente1, Fernanda Melo2, Rachel Marin1
1University of São Paulo Medical School - Clinic Hospital (HCFMUSP), São Paulo, Brazil.
Epilepsia open
|September 9, 2024
概括
在CDD患者中,延迟诊断和多疗法导致了严重的医疗负担. 早期遗传评估对于改善护理和减少患者和护理人员的痛苦至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- 脑膜衰变性疾病 (CDD) 是一种严重的神经发育障碍.
- 是CDD患者常见且具有挑战性的并发症.
研究的目的:
- 评估目前巴西CDD及其相关的诊断和治疗环境.
- 为了识别及时诊断和有效管理CDD的障碍.
主要方法:
- 一项在线调查对47个隶属于巴西CDD协会的家庭进行了调查.
- 收集的数据集中在基因确诊CDD患者的诊断旅程和治疗上.
主要成果:
- 据报道,诊断的显著延迟,平均年龄为3.3岁,受成本和医生转诊的影响.
- 大多数患者经历了早期发作,严重的每日发作,通常用多种抗药物 (ASM) 治疗.
- 护理人员报告ASM的频繁和严重的副作用,影响患者的生活质量.
结论:
- 迫切需要改善基因检测的准入和早期诊断CDD.
- 简化诊断过程和优化管理可以降低医疗保健成本和患者负担.
- 支持基因测试的公共卫生政策对于提高对CDD患者的护理至关重要.
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