Rimmasch Megan, Wilson Carey A, Walton Nephi A, Huynh Kelly, Bonkowsky Joshua L, Palmquist Rachel
Graduate Program in Genetic Counseling, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Intermountain Heart Institute, Heart Failure and Transplant Team, Intermountain Health, Salt Lake City, Utah, USA.
Epilepsia Open. 2024 Dec;9(6):2495-2504. doi: 10.1002/epi4.13053. Epub 2024 Oct 28.
Molecular diagnosis for pediatric epilepsy patients can impact treatment and health supervision recommendations. However, there is little known about factors affecting the time to receive a diagnosis. Our objective was to characterize factors affecting the time from first seizure to molecular diagnosis in children with epilepsy. A retrospective, population-based review was used to analyze data from pediatric patients with a genetic etiology for epilepsy over a 5 year period. A subgroup of patients with seizure onset after 2016 was evaluated for recent trends. We identified 119 patients in the main cohort and 62 in a more recent (contemporaneous) subgroup. Sex, race, and ethnicity were not significantly associated with time to molecular diagnosis. A greater number of hospitalizations was associated with a shorter time to diagnosis (p < 0.001). Developmental delay was associated with a longer time to diagnosis (p = 0.002). We found no association for time to diagnosis with a diagnosis of autism, utilization of free genetic testing, or epilepsy type. In the recent subgroup analysis, commercial insurance was associated with decreased time to diagnosis (p = 0.02). Developmental delay, public insurance, or patients in the outpatient setting had longer times to molecular diagnosis. These findings suggest that there may be opportunities to implement interventions aimed at accelerating the provision of genetic testing in pediatric epilepsy. PLAIN LANGUAGE SUMMARY: Genetic diagnosis for pediatric epilepsy patients can impact treatment and care. This study looked at factors that affect how long it takes a pediatric epilepsy patient to receive a genetic diagnosis. We found that sex, race and ethnicity, epilepsy type, and whether the patient had autism did not affect how long it took the patient to receive a diagnosis. However, we found that patients with developmental delay, fewer hospitalizations, and public insurance took a longer time to receive a diagnosis. Our findings suggest potential strategies for reducing the time to receive a genetic diagnosis.
小儿癫痫患者的分子诊断会影响治疗和健康监测建议。然而，关于影响诊断时间的因素却知之甚少。我们的目标是确定影响癫痫患儿从首次发作到分子诊断时间的因素。采用基于人群的回顾性研究方法，分析了5年间患有癫痫遗传病因的儿科患者的数据。对2016年后发病的患者亚组进行了近期趋势评估。我们在主要队列中确定了119例患者，在一个更近的（同期）亚组中确定了62例患者。性别、种族和民族与分子诊断时间无显著相关性。住院次数较多与诊断时间较短相关（p<0.001）。发育迟缓与诊断时间较长相关（p=0.002）。我们发现诊断时间与自闭症诊断、免费基因检测的使用或癫痫类型无关。在最近的亚组分析中，商业保险与诊断时间缩短相关（p=0.02）。发育迟缓、公共保险或门诊患者的分子诊断时间较长。这些发现表明，可能有机会实施旨在加快小儿癫痫基因检测的干预措施。通俗易懂的总结：小儿癫痫患者的基因诊断会影响治疗和护理。本研究探讨了影响小儿癫痫患者接受基因诊断所需时间的因素。我们发现，性别、种族和民族、癫痫类型以及患者是否患有自闭症并不影响患者接受诊断所需的时间。然而，我们发现发育迟缓、住院次数较少和公共保险的患者接受诊断的时间较长。我们的发现为缩短接受基因诊断的时间提供了潜在策略。
