Pietrafusa Nicola, Trivisano Marina, Casellato Susanna, Correale Cinzia, Cappelletti Simona, De Liso Paola, Onida Ilaria, Sotgiu Stefano, Butera Ambra, Specchio Nicola, Vigevano Federico
Neurology, Epilepsy, and Movement Disorders Unit, Full Member of European Reference Network EpiCARE, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Diagnosis and Treatment of Developmental Epilepsy, Child Neuropsychiatry Unit, Women and Children Department, AOU Sassari, Sassari, Italy.
Epilepsia. 2024 Feb;65(2):e7-e13. doi: 10.1111/epi.17854. Epub 2023 Dec 21.
Dravet syndrome (DS) is a rare developmental and epileptic encephalopathy. Infants with DS are especially vulnerable to the detrimental effects of prolonged and frequent seizures on development. Fenfluramine (FFA) is approved for the treatment of DS in patients aged 2 years and older. This study aims to evaluate the safety and efficacy of FFA in patients with DS younger than 2 years. We analyzed safety, tolerability, seizure, and neuropsychological outcome in a real-world setting. Developmental profile was investigated using Griffiths Mental Development Scales (GMDS). Five patients received FFA at a mean age of 14.9 months (9.6-18.6). Median follow-up was 13 months (interquartile range [IQR] = 12.9-24.4). All patients showed good tolerance to FFA. No significant variation of body mass index or echocardiographic issue was observed. Monthly median convulsive seizure frequency (MCSF) was 1.71 (IQR = 1.56-3.27) at the 6-month baseline period and .92 (IQR = .43-1.28) at last follow-up, with a median 54.43 (IQR = 40.91-60.83) percentage reduction in MCSF. Two of five patients had a performance improvement on GMDS subscales. Overall, the use of FFA below the age of 2 years in our small sample of patients was safe and represents a promising opportunity for seizure control and for protection of the neurodevelopmental outcome.
德雷维特综合征（DS）是一种罕见的发育性和癫痫性脑病。患有DS的婴儿特别容易受到长期频繁癫痫发作对发育的不利影响。芬氟拉明（FFA）已被批准用于治疗2岁及以上DS患者。本研究旨在评估FFA在2岁以下DS患者中的安全性和有效性。我们在实际临床环境中分析了安全性、耐受性、癫痫发作情况和神经心理学结果。使用格里菲斯心理发展量表（GMDS）对发育情况进行了调查。5名患者接受了FFA治疗，平均年龄为14.9个月（9.6 - 18.6个月）。中位随访时间为13个月（四分位间距[IQR]=12.9 - 24.4个月）。所有患者对FFA均表现出良好的耐受性。未观察到体重指数或超声心动图问题有显著变化。在6个月的基线期，每月惊厥发作频率中位数（MCSF）为1.71（IQR = 1.56 - 3.27），在最后一次随访时为0.92（IQR = 0.43 - 1.28），MCSF中位数降低了54.43%（IQR = 40.91 - 60.83）。5名患者中有2名在GMDS子量表上表现有所改善。总体而言，在我们的小样本患者中，2岁以下使用FFA是安全的，并且为癫痫控制和保护神经发育结局提供了一个有前景的机会。
