Diagnostic delays in children with early onset epilepsy: impact, reasons, and opportunities to improve care.
Diagnostic delays in children with early onset epilepsy: impact, reasons, and opportunities to improve care.
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作者：
Berg AT;Loddenkemper T;Baca CB
早发性癫痫的延迟诊断是癫痫治疗中潜在的重要且可避免的并发症。我们研究了新发癫痫的幼儿诊断延迟的频率、其对发育的影响以及延迟的原因。在一个基于社区的前瞻性队列中发现了三岁生日前患癫痫的儿童。从第二次癫痫发作到诊断间隔≥1个月被认为是延误。对基线和之后三年的发育以及 8-9 年后的智商进行了测试。审查了详细的家长基线访谈记录和医疗记录，以确定延误的潜在原因。与延误相关的因素包括父母、孩子、儿科医生、神经科医生和日程安排。 70/172 (41%) 儿童出现诊断延迟。如果儿童因首次癫痫发作而接受过医疗护理 (p<0.0001)、以前有过新生儿或热性惊厥 (p=0.02)、在诊断前仅出现惊厥 (p=0.005) 或父母受过大学教育 (p=0.01)，则延迟发生的频率会较低。 ≥1 个月的诊断延迟与 Vineland 适应性行为量表运动评分平均下降 7.4 分 (p=0.02) 相关。这种影响在诊断时就已经存在，持续至少三年，并且在 8-9 年后的 IQ 分数中也很明显，在调整父母教育和其他癫痫相关临床因素后，与诊断延迟相关的智商分数降低 8.4 分（p = 0.06），全量程 IQ 的处理速度高达 14.5 分（p = 0.004）。与延迟诊断相关的因素包括父母未将事件识别为癫痫发作 (N=47)、儿科医生漏诊或推迟诊断 (N=15)、神经科医生推迟诊断 (N=7) 和日程安排问题 (N=11)。许多患有癫痫的幼儿都会出现诊断延迟的情况。它们与童年后期发育和智商的大幅下降有关。有几个因素会影响诊断延迟，并可能代表干预和改善护理的机会。
Delayed diagnosis of early-onset epilepsy is a potentially important and avoidable complication in epilepsy care. We examined the frequency of diagnostic delays in young children with newly presenting epilepsy, their developmental impact, and reasons for delays. Children who developed epilepsy before their third birthday were identified in a prospective community-based cohort. An interval ≥1 month from second seizure to diagnosis was considered a delay. Testing of development at baseline and for up to three years after and of IQ 8–9 years later was performed. Detailed parental baseline interview accounts and medical records were reviewed to identify potential reasons for delays. Factors associated with delays included the parent, child, pediatrician, neurologist, and scheduling. Diagnostic delays occurred in 70/172 (41%) children. Delays occurred less often if children had received medical attention for the first seizure (p<0.0001), previously had neonatal or febrile seizures (p=0.02), had only convulsions before diagnosis (p=0.005) or had a college-educated parent (p=0.01). A ≥1 month diagnostic delay was associated with an average 7.4 point drop (p=0.02) in the Vineland Scales of Adaptive Behavior motor score. The effect was present at diagnosis, persisted for at least three years, and was also apparent in IQ scores 8–9 years later which were lower in association with a diagnostic delay by 8.4 points (p=0.06) for processing speed up to 14.5 points (p=0.004) for full scale IQ, after adjustment for parental education and other epilepsy-related clinical factors. Factors associated with delayed diagnosis included parents not recognizing events as seizures (N=47), pediatricians missing or deferring diagnosis (N=15), neurologists deferring diagnosis (N=7), and scheduling problems (N=11). Diagnostic delays occur in many young children with epilepsy. They are associated with substantial decrements in development and IQ later in childhood. Several factors influence diagnostic delays and may represent opportunities for intervention and improved care.
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