一个患有特拉韦特综合症的孩子的艰难旅程：来自父母和神经儿科医生的观点。

IF 4.8 3区医学 Q1 CLINICAL NEUROLOGY

Neurology and Therapy Pub Date : 2025-09-19 DOI:10.1007/s40120-025-00826-7

Romain Reboux, Silvia Napuri

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引用次数: 0

摘要

Dravet综合征（DS）是一种罕见而严重的癫痫，其特征是在出生后第一年开始反复发作，导致运动、认知和行为障碍。这篇文章提供了DS患儿（“Ethan”）的父母和治疗患儿的神经儿科医生的观点。伊森在9个月大的时候开始发作，是局灶性发作和癫痫持续状态的混合。人们尝试了许多治疗方法，包括标准的抗癫痫药物（如左乙拉西坦、氯巴唑和芬氟拉明）、其他药物（大麻二酚）和非药物方法（生酮饮食），但收效甚微。伊桑3岁时，由2019冠状病毒病（COVID-19）引发的长期癫痫持续状态导致脑损伤。康复治疗使Ethan恢复了之前的一些功能，在他38个月大的时候，开始了氯巴唑、丙戊酸钠和斯立哌醇的联合治疗，并成功地控制了Ethan的癫痫发作。伊桑的父亲描述了唐氏综合症的诊断、与医疗系统的互动以及寻找有效治疗方法给家庭带来的压力。由于伊桑的癫痫得到了更好的控制，这个家庭已经能够过上更正常的生活，现在他们专注于支持伊桑并展望未来。伊桑的神经儿科医生概述了她对退行性椎体滑移的诊断和管理方法，包括临床医生与家长关系在传授诊断和做出初步和持续治疗决定方面的重要性。首选的一线治疗是丙戊酸钠，其次是丙戊酸钠-氯巴赞-斯立哌醇联合治疗，托吡酯或生酮饮食作为二线选择。在0 ~ 2岁的儿童中，也可以考虑使用大麻二酚和芬氟拉明。维持治疗的目的是减少癫痫发作的次数，特别是癫痫持续状态，考虑到这种癫痫发作类型对患者和护理人员的重大影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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The Difficult Journey of a Child with Dravet Syndrome: Perspectives from a Parent and the Neuropaediatrician.

Dravet syndrome (DS) is a rare and severe form of epilepsy, characterised by recurrent seizures that begin during the first year of life, leading to motor, cognitive and behavioural impairments. This article provides the perspectives of a parent of a child with DS ('Ethan') and the treating neuropaediatrician. Ethan's seizures began when he was 9 months old, and were a mixture of focal seizures and status epilepticus. Numerous treatments were tried, including standard anti-seizure medications (such as levetiracetam, clobazam and fenfluramine), other medications (cannabidiol) and nonpharmacological approaches (ketogenic diet), with little success. When Ethan was 3 years old, a prolonged episode of status epilepticus precipitated by coronavirus disease 2019 (COVID-19) led to brain damage. Rehabilitation allowed Ethan to regain some of his previous functioning and, at the age of 38 months, combination therapy with clobazam, sodium valproate and stiripentol was begun and has successfully controlled Ethan's seizures. Ethan's father describes the stress that the diagnosis of DS, interactions with the healthcare system, and the search for effective treatment imposed on the family. Since Ethan's seizures have been better controlled, the family has been able to lead a more normal life, and is now focused on supporting Ethan and looking to the future. Ethan's neuropaediatrician outlines the approach she takes to the diagnosis and management of DS, including the importance of the clinician-parent relationship in imparting the diagnosis and making initial and ongoing treatment decisions. The preferred first-line treatment is sodium valproate, which is followed by sodium valproate-clobazam-stiripentol combination therapy, topiramate or a ketogenic diet as second-line options. In children > 2 years, cannabidiol and fenfluramine can also be considered. The aim of maintenance treatment (which will invariably be polytherapy) is to reduce the number of seizures, particularly status epilepticus, given the significant impact of this seizure type on patients and caregivers.

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来源期刊

Neurology and Therapy CLINICAL NEUROLOGY-

CiteScore

5.40

自引率

8.10%

发文量

103

审稿时长

6 weeks

期刊介绍： Aims and Scope Neurology and Therapy aims to provide reliable and inclusive, rapid publication for all therapy related research for neurological indications, supporting the timely dissemination of research with a global reach, to help advance scientific discovery and support clinical practice. Neurology and Therapy is an international, open access, peer reviewed, rapid publication journal dedicated to the publication of high-quality clinical (all phases), observational, real-world and health outcomes research around the discovery, development, and use of neurological and psychiatric therapies, (also covering surgery and devices). Studies relating to diagnosis, pharmacoeconomics, public health, quality of life, and patient care, management, and education are also welcomed. The journal is of interest to a broad audience of healthcare professionals and publishes original research, reviews, case reports, trial designs, communications and letters. The journal is read by a global audience and receives submissions from all over the world. Neurology and Therapy will consider all scientifically sound research be it positive, confirmatory or negative data. Submissions are welcomed whether they relate to an international and/or a country-specific audience, something that is crucially important when researchers are trying to target more specific patient populations. This inclusive approach allows the journal to assist in the dissemination of all scientifically and ethically sound research. Rapid Publication The journal’s rapid publication timelines aim for a peer review decision within 2 weeks of submission. If an article is accepted, it will be published online 3-4 weeks from acceptance. These rapid timelines are achieved through the combination of a dedicated in-house editorial team, who closely manage article workflow, and an extensive Editorial and Advisory Board who assist with rapid peer review. This allows the journal to support the rapid dissemination of research, whilst still providing robust peer review. Combined with the journal’s open access model, this allows for the rapid and efficient communication of the latest research and reviews to support scientific discovery and clinical practice. Open Access All articles published by Neurology and Therapy are open access. Personal Service The journal’s dedicated in-house editorial team offer a personal “concierge service” meaning that authors will always have a personal point of contact able to update them on the status of their manuscript. The editorial team check all manuscripts to ensure that articles conform to the most recent COPE and ICMJE publishing guidelines. This supports the publication of ethically sound and transparent research. We also encourage pre-submission enquiries and are always happy to provide a confidential assessment of manuscripts. 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