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Abstract：
BACKGROUND: Rett syndrome (RTT) and tuberous sclerosis complex (TSC) are two rare disorders presenting with a range of different epileptic seizures. Seizure management requires careful therapy selection, thereby necessitating development of high-quality treatment guidelines. This targeted literature review (TLR) aimed to characterise country-specific and international treatment guidelines available for pharmacological management of seizures in RTT and TSC.
METHODS: A TLR was performed between 25-Jan and 11-Mar 2021. Manual searches of online rare disease and guideline databases, and websites of national heath technology assessment bodies were conducted for the following countries: Australia, Canada, France, Germany, Israel, Italy, Japan, Spain, Switzerland, UK, and US as defined by pre-specified eligibility criteria. Search terms were developed for each condition and translated into local languages where appropriate. Eligible publications were defined as guidelines/guidance reporting pharmacological management of seizures in patients with RTT and TSC. Guideline development methodology, geographical focus, author information and treatment recommendations were extracted from guidelines. An author map was generated using R version 3.5.1 to visualise extent of collaboration between authors.
RESULTS: 24 total guidelines were included, of which three and six contained only recommendations for RTT and TSC, respectively (some provided recommendations for ≥ 1 condition). Guideline development processes were poorly described (50% [12 guidelines] had unclear/absent literature review methodologies); reported methodologies were variable, including systematic literature reviews (SLRs)/TLRs and varying levels of expert consultation. Most (83% [20/24]) were country-specific, with guideline authors predominantly publishing in contained national groups; four guidelines were classified as \'International,\' linking author groups in the US, UK, Italy and France. High levels of heterogeneity were observed in the availability of treatment recommendations across indications, with 13 and 67 recommendations found for RTT and TSC, respectively. For RTT, all treatment recommendations were positive and sodium valproate had the highest number of positive recommendations (Khwaja, Sahin (2011) Curr Opin Pediatr 23(6):633-9). All TSC treatments (21 medications) received either exclusively negative (National Organization for Rare Disorders (2019)) or positive (Chu-Shore et al. (2010) Epilepsia 51(7):1236-41) recommendations; vigabatrin received the highest number of positive recommendations (Kaur, Christodoulou (2019)).
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.
BACKGROUND: Not applicable.
METHODS: A TLR was performed between 25-Jan and 11-Mar 2021. Manual searches of online rare disease and guideline databases, and websites of national heath technology assessment bodies were conducted for the following countries: Australia, Canada, France, Germany, Israel, Italy, Japan, Spain, Switzerland, UK, and US as defined by pre-specified eligibility criteria. Search terms were developed for each condition and translated into local languages where appropriate. Eligible publications were defined as guidelines/guidance reporting pharmacological management of seizures in patients with RTT and TSC. Guideline development methodology, geographical focus, author information and treatment recommendations were extracted from guidelines. An author map was generated using R version 3.5.1 to visualise extent of collaboration between authors.
RESULTS: 24 total guidelines were included, of which three and six contained only recommendations for RTT and TSC, respectively (some provided recommendations for ≥ 1 condition). Guideline development processes were poorly described (50% [12 guidelines] had unclear/absent literature review methodologies); reported methodologies were variable, including systematic literature reviews (SLRs)/TLRs and varying levels of expert consultation. Most (83% [20/24]) were country-specific, with guideline authors predominantly publishing in contained national groups; four guidelines were classified as \'International,\' linking author groups in the US, UK, Italy and France. High levels of heterogeneity were observed in the availability of treatment recommendations across indications, with 13 and 67 recommendations found for RTT and TSC, respectively. For RTT, all treatment recommendations were positive and sodium valproate had the highest number of positive recommendations (Khwaja, Sahin (2011) Curr Opin Pediatr 23(6):633-9). All TSC treatments (21 medications) received either exclusively negative (National Organization for Rare Disorders (2019)) or positive (Chu-Shore et al. (2010) Epilepsia 51(7):1236-41) recommendations; vigabatrin received the highest number of positive recommendations (Kaur, Christodoulou (2019)).
CONCLUSIONS: This review highlights the need for the development of international high-quality and comprehensive consensus-based guidance for the management of seizures with pharmacological therapy in RTT and TSC.
BACKGROUND: Not applicable.
摘要：
背景：Rett综合征（RTT）和结节性硬化症（TSC）是两种罕见的疾病，表现为一系列不同的癫痫发作。癫痫发作管理需要仔细的治疗选择，因此需要制定高质量的治疗指南。这篇有针对性的文献综述（TLR）旨在描述可用于RTT和TSC中癫痫发作的药物管理的特定国家和国际治疗指南。
方法：在2021年1月25日至3月11日之间进行TLR。手动搜索在线罕见疾病和指南数据库，并在以下国家/地区开设了国家健康技术评估机构的网站：澳大利亚，加拿大,法国,德国,以色列,意大利,Japan,西班牙,瑞士,英国,和由预先指定的资格标准定义的美国。为每种条件开发了搜索词，并在适当的情况下将其翻译成当地语言。符合条件的出版物被定义为报告RTT和TSC患者癫痫发作的药理学管理的指南/指南。指导开发方法，地理重点,作者信息和治疗建议从指南中提取.使用R版本3.5.1生成作者地图，以可视化作者之间的合作程度。
结果：共包括24条指南，其中三个和六个仅包含RTT和TSC的建议，分别(一些提供了≥1个条件的建议)。指南制定过程描述不充分(50%[12个指南]文献综述方法不明确/缺失);报告的方法是可变的,包括系统文献综述(SLR)/TLR和不同级别的专家咨询。大多数(83%[20/24])是针对特定国家的，指南作者主要在包含的国家团体中发表；四项指南被归类为“国际，\'链接美国的作者群，英国,意大利和法国。在不同适应症的治疗建议的可用性中观察到高度异质性，针对RTT和TSC找到了13和67条建议，分别。对于RTT，所有治疗建议均为阳性，丙戊酸钠的阳性建议数量最多（Khwaja，Sahin(2011)CurrOpinPediatr23(6)：633-9)。所有TSC治疗（21种药物）均为阴性（国家罕见疾病组织（2019））或阳性（Chu-Shore等人。（2010）癫痫51（7）：1236-41）建议；vigabatrin收到的阳性建议数量最多（Kaur，Christodoulou(2019))。
结论：这篇综述强调了需要为RTT和TSC中的药物治疗制定高质量和全面的基于共识的国际指南。
背景：不适用。
方法：在2021年1月25日至3月11日之间进行TLR。手动搜索在线罕见疾病和指南数据库，并在以下国家/地区开设了国家健康技术评估机构的网站：澳大利亚，加拿大,法国,德国,以色列,意大利,Japan,西班牙,瑞士,英国,和由预先指定的资格标准定义的美国。为每种条件开发了搜索词，并在适当的情况下将其翻译成当地语言。符合条件的出版物被定义为报告RTT和TSC患者癫痫发作的药理学管理的指南/指南。指导开发方法，地理重点,作者信息和治疗建议从指南中提取.使用R版本3.5.1生成作者地图，以可视化作者之间的合作程度。
结果：共包括24条指南，其中三个和六个仅包含RTT和TSC的建议，分别(一些提供了≥1个条件的建议)。指南制定过程描述不充分(50%[12个指南]文献综述方法不明确/缺失);报告的方法是可变的,包括系统文献综述(SLR)/TLR和不同级别的专家咨询。大多数(83%[20/24])是针对特定国家的，指南作者主要在包含的国家团体中发表；四项指南被归类为“国际，\'链接美国的作者群，英国,意大利和法国。在不同适应症的治疗建议的可用性中观察到高度异质性，针对RTT和TSC找到了13和67条建议，分别。对于RTT，所有治疗建议均为阳性，丙戊酸钠的阳性建议数量最多（Khwaja，Sahin(2011)CurrOpinPediatr23(6)：633-9)。所有TSC治疗（21种药物）均为阴性（国家罕见疾病组织（2019））或阳性（Chu-Shore等人。（2010）癫痫51（7）：1236-41）建议；vigabatrin收到的阳性建议数量最多（Kaur，Christodoulou(2019))。
结论：这篇综述强调了需要为RTT和TSC中的药物治疗制定高质量和全面的基于共识的国际指南。
背景：不适用。
