Abstract：
OBJECTIVE: Dravet syndrome (DS) is a rare form of refractory epilepsy that begins in the first year of life. Approximately 85% of patients have a mutation in the SCN1A gene, which encodes a voltage-gated sodium channel. The main objective of the present work was to assess the degree of knowledge of DS among Spanish primary care (PC) professionals, the communication flow between them and the pediatric neurologists (PNs), and the services available and resources offered to patients in Spain when searching for a diagnosis and adequate treatment.
METHODS: Two anonymized online surveys on DS diagnosis and patient management in PC were conducted with Spanish PC pediatricians (PCPs) and caregivers of DS patients in Spain.
RESULTS: Most PCPs are aware of genetic epilepsy but lack full knowledge of DS and patient advocacy groups (PAGs). Access to epilepsy treatments varies among regions, with many referrals to hospitals and pediatric neurologists. Diagnosis is often delayed, with misdiagnoses and frequent emergency room (ER) visits. Treatment involves multiple drugs, and sodium channel blockers are used, which are contraindicated in DS treatment. Improved training, resources, and communication are needed for early diagnosis.
CONCLUSIONS: To improve the care and treatment of DS patients in Spain, early diagnosis is required and, possibly, specific efforts aimed at identifying patients in adulthood, generating socio-sanitary structures that integrate social and health services to provide comprehensive care, taking into account the different features and comorbidities of the disease.
CONCLUSIONS: Dravet syndrome (DS) is a form of genetic epilepsy that starts within the first year of life. We present a study showing that, while family doctors are aware of genetic epilepsies, many don\'t have a complete understanding of DS. Unfortunately, getting the right diagnosis can take a long time, leading to unnecessary visits to the emergency room. Patients often need several medications, and sometimes they\'re given drugs that aren\'t recommended for DS. The takeaway is that training for doctors, more resources, and improved communication could help creating better healthcare systems and therefore give easier access to the right therapies.
METHODS: Two anonymized online surveys on DS diagnosis and patient management in PC were conducted with Spanish PC pediatricians (PCPs) and caregivers of DS patients in Spain.
RESULTS: Most PCPs are aware of genetic epilepsy but lack full knowledge of DS and patient advocacy groups (PAGs). Access to epilepsy treatments varies among regions, with many referrals to hospitals and pediatric neurologists. Diagnosis is often delayed, with misdiagnoses and frequent emergency room (ER) visits. Treatment involves multiple drugs, and sodium channel blockers are used, which are contraindicated in DS treatment. Improved training, resources, and communication are needed for early diagnosis.
CONCLUSIONS: To improve the care and treatment of DS patients in Spain, early diagnosis is required and, possibly, specific efforts aimed at identifying patients in adulthood, generating socio-sanitary structures that integrate social and health services to provide comprehensive care, taking into account the different features and comorbidities of the disease.
CONCLUSIONS: Dravet syndrome (DS) is a form of genetic epilepsy that starts within the first year of life. We present a study showing that, while family doctors are aware of genetic epilepsies, many don\'t have a complete understanding of DS. Unfortunately, getting the right diagnosis can take a long time, leading to unnecessary visits to the emergency room. Patients often need several medications, and sometimes they\'re given drugs that aren\'t recommended for DS. The takeaway is that training for doctors, more resources, and improved communication could help creating better healthcare systems and therefore give easier access to the right therapies.
摘要：
目的：Dravet综合征（DS）是一种罕见的难治性癫痫，始于生命的第一年。大约85%的患者有SCN1A基因突变，编码电压门控钠通道。当前工作的主要目标是评估西班牙初级保健（PC）专业人员对DS的了解程度，他们和儿科神经科医生(PNs)之间的交流，以及在寻找诊断和适当治疗时为西班牙患者提供的可用服务和资源。
方法：对西班牙PC儿科医生（PCP）和西班牙DS患者的护理人员进行了两项关于PC中DS诊断和患者管理的匿名在线调查。
结果：大多数PCP都知道遗传性癫痫，但缺乏对DS和患者倡导团体（PAG）的全面了解。获得癫痫治疗的机会因地区而异，许多转诊给医院和儿科神经科医生。诊断经常延迟，误诊和频繁的急诊室（ER）就诊。治疗涉及多种药物，使用钠通道阻滞剂，在DS治疗中是禁忌的。改进培训,资源,早期诊断需要沟通。
结论：为了改善西班牙DS患者的护理和治疗，需要早期诊断，可能,旨在识别成年患者的具体努力，建立整合社会和卫生服务以提供全面护理的社会卫生结构，考虑到疾病的不同特征和合并症。
结论：Dravet综合征（DS）是一种在生命的第一年内开始的遗传性癫痫。我们提出的一项研究表明，虽然家庭医生知道遗传性癫痫，许多人对DS没有完全的了解。不幸的是,得到正确的诊断需要很长时间,导致不必要的去急诊室。患者通常需要几种药物，有时他们会服用不推荐用于DS的药物。收获是对医生的培训，更多资源,和改善沟通可以帮助创建更好的医疗保健系统，因此更容易获得正确的治疗。
方法：对西班牙PC儿科医生（PCP）和西班牙DS患者的护理人员进行了两项关于PC中DS诊断和患者管理的匿名在线调查。
结果：大多数PCP都知道遗传性癫痫，但缺乏对DS和患者倡导团体（PAG）的全面了解。获得癫痫治疗的机会因地区而异，许多转诊给医院和儿科神经科医生。诊断经常延迟，误诊和频繁的急诊室（ER）就诊。治疗涉及多种药物，使用钠通道阻滞剂，在DS治疗中是禁忌的。改进培训,资源,早期诊断需要沟通。
结论：为了改善西班牙DS患者的护理和治疗，需要早期诊断，可能,旨在识别成年患者的具体努力，建立整合社会和卫生服务以提供全面护理的社会卫生结构，考虑到疾病的不同特征和合并症。
结论：Dravet综合征（DS）是一种在生命的第一年内开始的遗传性癫痫。我们提出的一项研究表明，虽然家庭医生知道遗传性癫痫，许多人对DS没有完全的了解。不幸的是,得到正确的诊断需要很长时间,导致不必要的去急诊室。患者通常需要几种药物，有时他们会服用不推荐用于DS的药物。收获是对医生的培训，更多资源,和改善沟通可以帮助创建更好的医疗保健系统，因此更容易获得正确的治疗。
