The Delayed Diagnosis of Juvenile Myoclonic Epilepsy in Young Adults: A Scoping Review

Abstract

Introduction: The most prevalent idiopathic generalized epilepsies of adolescence and early adulthood is juvenile myoclonic epilepsy (JME). Its diagnosis is usually missed, wrongly labeled, and frequently delayed worldwide. This scoping review focused on the factors that contribute to JME diagnosis delays and how to avoid them. Methodology: The preferred reporting items for systematic reviews and meta-analysis protocols for comparative published articles were used. To determine the factors that cause the delay of diagnosis of JME, a search in PubMed and ScienceDirect (Summon) using keywords "JME" and "Janz epilepsy" revealed a sum of 13410 articles. However, when including the keywords; 'delayed diagnosis', 'human',' English language', 'young adults' and 'free full text'; and excluded 'duplicated and unrelated articles we remained with 15 articles. The participants were young adult patients. Results: Out of the 15 articles two have reported a delay in the diagnosis of JME by14 years, while the rest varied from 1 to 11 years. With the mean age of delay being 20 ±10 years. One of the various reasons contributing to this delay is failure to elicit a myoclonic jerk history due to lack of familiarity with the syndrome which accounted for 93.3%, followed by misleading or misinterpretation of EEG 86.6%, normal EEG 80%, presenting initial seizure with GTC 66.67% and patients fail to mention their own myoclonic jerks 60%. Conclusion: Despite well-defined diagnostic criteria and growing public knowledge of JME, misdiagnosis remains an issue that causes the delay by several years.