Dressler Anastasia, Trimmel-Schwahofer Petra, Reithofer Eva, Mühlebner Angelika, Gröppel Gudrun, Reiter-Fink Edith, Benninger Franz, Grassl Roland, Feucht Martha
Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Waehringer Guertel 18-20, 1090 Vienna, Austria.
Department of Child and Adolescent Neuropsychiatry, Medical University Vienna, Waehringer Guertel 18-20, 1090 Vienna, Austria.
Epilepsy Res. 2015 Jan;109:81-9. doi: 10.1016/j.eplepsyres.2014.10.014. Epub 2014 Oct 28.
There is strong evidence for the use of the ketogenic diet (KD) in Dravet syndrome (DS). The purpose of this study was to evaluate both effectiveness and tolerability in comparison with various antiepileptic drugs (AEDs).
32 children (19 males) with genetically confirmed DS treated at our center since 1999 were analyzed retrospectively. Data collected from patients' files included type of mutation, age at treatment initiation and treatment lag, overall seizure frequency and frequency of different seizure types, especially prolonged seizures and status epilepticus (SE). Efficacy and safety of the KD were evaluated. In addition, the effect on seizure count was compared with that of various AED regimen and the vagus nerve stimulation (VNS).
Overall response to the KD was 70% at 3 months and 60% at 12 months. No SE occurred while patients were on the diet, and the frequencies of prolonged generalized and myoclonic seizures were reduced. No severe side effects requiring withdrawal of the KD were observed. Although the effect of the KD was independent of age at initiation, it had to be withdrawn due to noncompliance more frequently in solid fed older children compared with infants treated with the liquid ketogenic formula. The KD was not significantly inferior to the current gold standard AED triple combination of Stiripentol+Valproate+Clobazam (89%), Bromides (78%), Valproate alone (48%), Topiramate (35%) and VNS (37%) and significantly more effective than Levetiracetam (30%; p=0.037, Pearson's Chi-square).
These data suggest that the KD ranks among currently used AEDs as an effective treatment for seizures in DS. According to our results (good effect on SE and prolonged seizures, good tolerability, less compliance problems due to formula treatment) the KD should be considered as an early treatment option in infants with DS.
有充分证据支持生酮饮食（KD）用于治疗德雷维特综合征（DS）。本研究的目的是与各种抗癫痫药物（AEDs）相比，评估其有效性和耐受性。
对自1999年以来在我们中心接受治疗的32例经基因确诊的DS患儿（19例男性）进行回顾性分析。从患者病历中收集的数据包括突变类型、开始治疗的年龄和治疗延迟、总体癫痫发作频率和不同发作类型的频率，尤其是长时间发作和癫痫持续状态（SE）。评估了KD的疗效和安全性。此外，将其对癫痫发作次数的影响与各种AED方案和迷走神经刺激（VNS）的影响进行了比较。
3个月时对KD的总体反应率为70%，12个月时为60%。患者在饮食期间未发生SE，长时间全身性发作和肌阵挛发作的频率降低。未观察到需要停用KD的严重副作用。虽然KD的效果与开始治疗的年龄无关，但与接受液体生酮配方治疗的婴儿相比，固体喂养的大龄儿童因不依从性而不得不停用KD的情况更频繁。KD并不显著劣于目前的金标准AED三联组合（司替戊醇+丙戊酸+氯巴占，89%）、溴化物（78%）、单独使用丙戊酸（48%）、托吡酯（35%）和VNS（37%），且显著比左乙拉西坦更有效（30%；p=0.037，Pearson卡方检验）。
这些数据表明，KD作为DS癫痫发作的有效治疗方法，位列目前使用的AEDs之中。根据我们的结果（对SE和长时间发作效果良好、耐受性良好、配方治疗导致的依从性问题较少），KD应被视为DS婴儿的早期治疗选择。
