Abstract：
BACKGROUND: The main objective of this study was to evaluate the neurological consequences of delayed pyridoxine administration in patients diagnosed with Pyridoxin Dependent Epilepsies (PDE).
METHODS: We reviewed 29 articles, comprising 52 genetically diagnosed PDE cases, ensuring data homogeneity. Three additional cases were included from the General Pediatric Operative Unit of San Marco Hospital. Data collection considered factors like age at the first seizure\'s onset, EEG reports, genetic analyses, and more. Based on the response to first-line antiseizure medications, patients were categorized into four distinct groups. Follow-up evaluations employed various scales to ascertain neurological, cognitive, and psychomotor developments.
RESULTS: Our study includes 55 patients (28 males and 27 females), among whom 15 were excluded for the lack of follow-up data. 21 patients were categorized as \"Responder with Relapse\", 11 as \"Resistant\", 6 as \"Pyridoxine First Approach\", and 2 as \"Responders\". The neurological outcome revealed 37,5 % with no neurological effects, 37,5 % showed complications in two developmental areas, 15 % in one, and 10 % in all areas. The statistical analysis highlighted a positive correlation between the time elapsed from the administration of pyridoxine after the first seizure and worse neurological outcomes. On the other hand, a significant association was found between an extended latency period (that is, the time that elapsed between the onset of the first seizure and its recurrence) and worse neurological outcomes in patients who received an unfavorable score on the neurological evaluation noted in a subsequent follow-up.
CONCLUSIONS: The study highlights the importance of early recognition and intervention in PDE. Existing medical protocols frequently overlook the timely diagnosis of PDE. Immediate administration of pyridoxine, guided by a swift diagnosis in the presence of typical symptoms, might improve long-term neurological outcomes, and further studies should evaluate the outcome of PDE neonates promptly treated with Pyridoxine.
METHODS: We reviewed 29 articles, comprising 52 genetically diagnosed PDE cases, ensuring data homogeneity. Three additional cases were included from the General Pediatric Operative Unit of San Marco Hospital. Data collection considered factors like age at the first seizure\'s onset, EEG reports, genetic analyses, and more. Based on the response to first-line antiseizure medications, patients were categorized into four distinct groups. Follow-up evaluations employed various scales to ascertain neurological, cognitive, and psychomotor developments.
RESULTS: Our study includes 55 patients (28 males and 27 females), among whom 15 were excluded for the lack of follow-up data. 21 patients were categorized as \"Responder with Relapse\", 11 as \"Resistant\", 6 as \"Pyridoxine First Approach\", and 2 as \"Responders\". The neurological outcome revealed 37,5 % with no neurological effects, 37,5 % showed complications in two developmental areas, 15 % in one, and 10 % in all areas. The statistical analysis highlighted a positive correlation between the time elapsed from the administration of pyridoxine after the first seizure and worse neurological outcomes. On the other hand, a significant association was found between an extended latency period (that is, the time that elapsed between the onset of the first seizure and its recurrence) and worse neurological outcomes in patients who received an unfavorable score on the neurological evaluation noted in a subsequent follow-up.
CONCLUSIONS: The study highlights the importance of early recognition and intervention in PDE. Existing medical protocols frequently overlook the timely diagnosis of PDE. Immediate administration of pyridoxine, guided by a swift diagnosis in the presence of typical symptoms, might improve long-term neurological outcomes, and further studies should evaluate the outcome of PDE neonates promptly treated with Pyridoxine.
摘要：
背景：本研究的主要目的是评估吡哆醇延迟给药对诊断为吡哆醇依赖性癫痫（PDE）患者的神经系统后果。
方法：我们回顾了29篇文章，包括52例基因诊断的PDE病例，确保数据同质性。另外3例病例来自圣马可医院普通儿科手术室。数据收集考虑了第一次癫痫发作时的年龄等因素，脑电图报告,遗传分析,还有更多.根据对一线抗癫痫药物的反应，患者分为4组.后续评估采用各种量表来确定神经系统，认知，和精神运动的发展。
结果：我们的研究包括55名患者（28名男性和27名女性），其中15人因缺乏随访数据而被排除在外.21例患者被归类为“复发反应者”，11为“耐”，6为“吡哆醇第一方法”，和2作为“响应者”。神经系统结果显示37,5％没有神经系统影响，37,5%在两个发育区域出现并发症，15%，所有领域的10%。统计分析强调了首次癫痫发作后吡哆醇给药的时间与较差的神经系统结局之间的正相关。另一方面,发现延长的潜伏期(即，从首次发作到复发之间经过的时间）以及在随后的随访中发现的神经学评估评分不佳的患者的神经学结局较差。
结论：该研究强调了早期识别和干预PDE的重要性。现有的医疗协议经常忽视PDE的及时诊断。立即服用吡哆醇，在存在典型症状的情况下进行快速诊断，可能会改善长期的神经系统结果，进一步的研究应评估及时接受吡哆醇治疗的PDE新生儿的结局。
方法：我们回顾了29篇文章，包括52例基因诊断的PDE病例，确保数据同质性。另外3例病例来自圣马可医院普通儿科手术室。数据收集考虑了第一次癫痫发作时的年龄等因素，脑电图报告,遗传分析,还有更多.根据对一线抗癫痫药物的反应，患者分为4组.后续评估采用各种量表来确定神经系统，认知，和精神运动的发展。
结果：我们的研究包括55名患者（28名男性和27名女性），其中15人因缺乏随访数据而被排除在外.21例患者被归类为“复发反应者”，11为“耐”，6为“吡哆醇第一方法”，和2作为“响应者”。神经系统结果显示37,5％没有神经系统影响，37,5%在两个发育区域出现并发症，15%，所有领域的10%。统计分析强调了首次癫痫发作后吡哆醇给药的时间与较差的神经系统结局之间的正相关。另一方面,发现延长的潜伏期(即，从首次发作到复发之间经过的时间）以及在随后的随访中发现的神经学评估评分不佳的患者的神经学结局较差。
结论：该研究强调了早期识别和干预PDE的重要性。现有的医疗协议经常忽视PDE的及时诊断。立即服用吡哆醇，在存在典型症状的情况下进行快速诊断，可能会改善长期的神经系统结果，进一步的研究应评估及时接受吡哆醇治疗的PDE新生儿的结局。
