Abstract：
OBJECTIVE: To evaluate the effectiveness of the ketogenic diet treatment in a cohort of patients with drug-resistant epilepsy with a mutation in the DEPDC5 gene.
METHODS: We followed four paediatric patients with drug resistant DEPDC5-related epilepsy through a ketogenic diet (KD) treatment course. We analyzed the following parameters of their clinical profiles: past medical history, clinical characteristics of seizure morphology, EEG records pre- and post-KD treatment, the results of MRI head and neurological and psychological examinations (pre-treatment and throughout treatment course). We evaluated the effectiveness of previous therapeutic approaches and the current treatment with ketogenic diet alongside results of neuroimaging studies. Effect of KD on co-morbid behavioural and psychiatric symptoms, as well as adverse effects from KD were also assessed.
RESULTS: In three patients, the introduction of the ketogenic diet resulted in the cessation of seizures, while in 1 patient with co-morbid cortical dysplasia, epileptic seizures of lesser severity returned after an initial seizure-free period of several weeks. Further, 1 patient was able to transition to a KD-only treatment regimen. The remaining patients were able to reduce the number of antiseizure medicine (ASM) to a monotherapy. In all cases we observed improvements in EEG results. Our cohort included one patient whose MRI head showed cortical dysplasia. However, no patients demonstrated any neurological signs in neurological examination. Psychological examination showed normal intellectual development in all patients, although behavioral disorders and difficulties at school were observed. The introduction of KD treatment correlated with improvement in school performance and improved behavioral regulation. No clinically significant adverse events were observed.
CONCLUSIONS: KD seems to be both effective and well tolerated in young patients with DEPDC5-related epilepsy, both as a monotherapy and as an adjunct to ASM. We recommend an early adoption of this therapeutic approach in this patient demographic. Our results demonstrate that the positive effects of KD treatment encompass improvements in general functioning, particularly in the context of school performance and behavior, in addition to the achievement of good seizure control.
METHODS: We followed four paediatric patients with drug resistant DEPDC5-related epilepsy through a ketogenic diet (KD) treatment course. We analyzed the following parameters of their clinical profiles: past medical history, clinical characteristics of seizure morphology, EEG records pre- and post-KD treatment, the results of MRI head and neurological and psychological examinations (pre-treatment and throughout treatment course). We evaluated the effectiveness of previous therapeutic approaches and the current treatment with ketogenic diet alongside results of neuroimaging studies. Effect of KD on co-morbid behavioural and psychiatric symptoms, as well as adverse effects from KD were also assessed.
RESULTS: In three patients, the introduction of the ketogenic diet resulted in the cessation of seizures, while in 1 patient with co-morbid cortical dysplasia, epileptic seizures of lesser severity returned after an initial seizure-free period of several weeks. Further, 1 patient was able to transition to a KD-only treatment regimen. The remaining patients were able to reduce the number of antiseizure medicine (ASM) to a monotherapy. In all cases we observed improvements in EEG results. Our cohort included one patient whose MRI head showed cortical dysplasia. However, no patients demonstrated any neurological signs in neurological examination. Psychological examination showed normal intellectual development in all patients, although behavioral disorders and difficulties at school were observed. The introduction of KD treatment correlated with improvement in school performance and improved behavioral regulation. No clinically significant adverse events were observed.
CONCLUSIONS: KD seems to be both effective and well tolerated in young patients with DEPDC5-related epilepsy, both as a monotherapy and as an adjunct to ASM. We recommend an early adoption of this therapeutic approach in this patient demographic. Our results demonstrate that the positive effects of KD treatment encompass improvements in general functioning, particularly in the context of school performance and behavior, in addition to the achievement of good seizure control.
摘要：
目的：在DEPDC5基因突变的耐药癫痫患者队列中评估生酮饮食治疗的有效性。
方法：我们通过生酮饮食（KD）治疗过程跟踪了四名患有耐药DEPDC5相关癫痫的儿科患者。我们分析了他们的临床资料的以下参数：既往病史，癫痫发作形态学的临床特征，脑电图记录KD治疗前后，MRI头部和神经和心理检查的结果（治疗前和整个治疗过程）。我们评估了以前的治疗方法和当前的生酮饮食治疗以及神经影像学研究结果的有效性。KD对共病行为和精神症状的影响，还评估了KD的不良反应.
结果：在三名患者中，生酮饮食的引入导致癫痫发作的停止，而在1名患有共病皮质发育不良的患者中，在最初几周的无癫痫发作期后，严重程度较轻的癫痫发作又复发了。Further,1名患者能够过渡到仅KD治疗方案。其余患者能够将抗癫痫药物（ASM）的数量减少到单一疗法。在所有情况下，我们观察到EEG结果的改善。我们的队列包括一名MRI头部显示皮质发育不良的患者。然而,没有患者在神经系统检查中表现出任何神经系统体征。心理检查显示所有患者智力发育正常,尽管在学校观察到行为障碍和困难。KD治疗的引入与学校表现的改善和行为调节的改善相关。没有观察到临床上显著的不良事件。
结论：KD在年轻的DEPDC5相关癫痫患者中似乎既有效又耐受良好，作为单一疗法和ASM的辅助疗法。我们建议在此患者人口统计学中尽早采用这种治疗方法。我们的结果表明，KD治疗的积极作用包括改善一般功能，特别是在学校表现和行为方面，除了实现良好的癫痫控制。
方法：我们通过生酮饮食（KD）治疗过程跟踪了四名患有耐药DEPDC5相关癫痫的儿科患者。我们分析了他们的临床资料的以下参数：既往病史，癫痫发作形态学的临床特征，脑电图记录KD治疗前后，MRI头部和神经和心理检查的结果（治疗前和整个治疗过程）。我们评估了以前的治疗方法和当前的生酮饮食治疗以及神经影像学研究结果的有效性。KD对共病行为和精神症状的影响，还评估了KD的不良反应.
结果：在三名患者中，生酮饮食的引入导致癫痫发作的停止，而在1名患有共病皮质发育不良的患者中，在最初几周的无癫痫发作期后，严重程度较轻的癫痫发作又复发了。Further,1名患者能够过渡到仅KD治疗方案。其余患者能够将抗癫痫药物（ASM）的数量减少到单一疗法。在所有情况下，我们观察到EEG结果的改善。我们的队列包括一名MRI头部显示皮质发育不良的患者。然而,没有患者在神经系统检查中表现出任何神经系统体征。心理检查显示所有患者智力发育正常,尽管在学校观察到行为障碍和困难。KD治疗的引入与学校表现的改善和行为调节的改善相关。没有观察到临床上显著的不良事件。
结论：KD在年轻的DEPDC5相关癫痫患者中似乎既有效又耐受良好，作为单一疗法和ASM的辅助疗法。我们建议在此患者人口统计学中尽早采用这种治疗方法。我们的结果表明，KD治疗的积极作用包括改善一般功能，特别是在学校表现和行为方面，除了实现良好的癫痫控制。
