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PLCB1 Biallelic Point Mutations Cause West Syndrome.磷脂酶Cβ1双等位基因突变导致韦斯特综合征。
Pediatr Neurol. 2019 Feb;91:62-64. doi: 10.1016/j.pediatrneurol.2018.11.007. Epub 2018 Nov 22.
3
Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial.氨己烯酸联合激素治疗与单纯激素治疗(ICISS)对婴儿痉挛的疗效:一项开放标签、随机对照试验的 18 个月随访结果。
Lancet Child Adolesc Health. 2018 Oct;2(10):715-725. doi: 10.1016/S2352-4642(18)30244-X. Epub 2018 Aug 29.
4
Epileptic spasms - 175 years on: Trying to teach an old dog new tricks.癫痫性痉挛——175年过去了:试图让老狗学新招。
Seizure. 2017 Jan;44:81-86. doi: 10.1016/j.seizure.2016.11.021. Epub 2016 Dec 6.
5
Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial.激素治疗与激素加氨己烯酸治疗婴儿痉挛症的安全性和有效性(ICISS):一项随机、多中心、开放标签试验。
Lancet Neurol. 2017 Jan;16(1):33-42. doi: 10.1016/S1474-4422(16)30294-0. Epub 2016 Nov 10.
6
Neonatal and Infantile Epilepsy: Acquired and Genetic Models.新生儿及婴儿癫痫:获得性和遗传模型
Cold Spring Harb Perspect Med. 2015 Dec 4;6(1):a022707. doi: 10.1101/cshperspect.a022707.
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Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.小儿癫痫管理建议总结:国际抗癫痫联盟儿科学委员会特别工作组报告
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8
Epilepsy in Tuberous Sclerosis: Phenotypes, Mechanisms, and Treatments.结节性硬化症中的癫痫:表型、机制与治疗
Semin Neurol. 2015 Jun;35(3):269-76. doi: 10.1055/s-0035-1552616. Epub 2015 Jun 10.
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在三级护理中心接受治疗的婴儿痉挛症患者的神经发育和癫痫结局。

Neurodevelopmental and epilepsy outcomes of patients with infantile spasms treated in a tertiary care center.

机构信息

From the Division of Pediatric Neurology (Bashiri, Al-Sehemi, Hamad, Aljumah, Kentab, Salih), Department of Pediatrics (Alshammari), College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia.

出版信息

Neurosciences (Riyadh). 2021 Jan;26(1):21-25. doi: 10.17712/nsj.2021.1.20200087.

DOI:10.17712/nsj.2021.1.20200087
PMID:33530039
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8015489/
Abstract

OBJECTIVES

To assess the neurodevelopmental and epilepsy outcomes in children with infantile spasms (IS).

METHODS

A retrospective chart review of all patients with infantile spasms admitted to King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia between January 2000 and December 2017. Infants who were diagnosed to have IS as per the International League Against Epilepsy (ILAE) definition were included in this study. Patients who lost follow-up and those who did not receive treatment at KKUH were excluded.

RESULTS

Total of 53 patients were included and categorized into unknown, cryptogenic and symptomatic type of IS. The majority had symptomatic etiology (71.7%). Type of etiology and delay in initiation of treatment were significant predictors of motor and cognitive outcomes, but not seizure control. Patients with unknown IS, who were diagnosed earlier (0.72-month), had better neurodevelopmental outcomes. Vigabatrin in combination with either Adrenocorticotropic hormone (ACTH) or Prednisolone showed better seizure control in comparison to monotherapy and other combination modalities.

CONCLUSION

Neurodevelopmental outcomes of IS are strongly associated with the underlying etiology. Early initiation of treatments had a favorable cognitive and motor outcome. Early response to combination therapy with resolution of spasms and hypsarrhythmia had better seizure outcomes. However, motor and cognitive outcomes were not affected by the response to the combination therapy.

摘要

目的

评估婴儿痉挛症(IS)患儿的神经发育和癫痫结局。

方法

对 2000 年 1 月至 2017 年 12 月期间在沙特阿拉伯利雅得的 King Khalid 大学医院(KKUH)住院的所有婴儿痉挛症患儿进行回顾性病历审查。本研究纳入符合国际抗癫痫联盟(ILAE)定义的 IS 患儿。排除失访患儿和未在 KKUH 接受治疗的患儿。

结果

共纳入 53 例患儿,分为不明原因、隐源性和症状性 IS 类型。大多数患儿为症状性病因(71.7%)。病因类型和治疗开始时间延迟是运动和认知结局的显著预测因素,但与癫痫控制无关。诊断较早(0.72 个月)的不明原因 IS 患儿具有更好的神经发育结局。与单药治疗和其他联合治疗方式相比,联合氨己烯酸(VGB)加促肾上腺皮质激素(ACTH)或泼尼松龙治疗的癫痫控制效果更好。

结论

IS 的神经发育结局与潜在病因密切相关。早期开始治疗可获得更好的认知和运动结局。痉挛和高度失律缓解的联合治疗早期反应具有更好的癫痫结局。然而,运动和认知结局不受联合治疗反应的影响。