The Causes of DeThe Causes of Delayed Diagnosis of Juvenile Myoclonic Epilepsy in Vanlayed Diagnosis of Juvenile Myoclonic Epilepsy in Van

Abstract

SummaryObjectives: In this article we aimed to evaluate the clinical, electroencephalographic and socio-demographic features in patients with juvenile myoclonic epilepsy (JME) and investigate the reasons for the delay in diagnosis. Methods: We evaluated 37 patients with JME. Epilepsy onset, seizure type, antiepileptic drugs, electroencephalographic and radiologic findings were determined. Results: Twenty-seven female (72.9%), and 10 (27.1%) male patients were included. Mean age of patients was 22.8 (9-62), the onset of seizures ranged from 7 to 18 years of age. Fourteen patient (37.8%) had consanguinuous parents. Two patients had only myoclonic seizures, 8 patients had both myoclonic and absence seizures, 10 patients had myoclonic and generalized tonic clonic seizures and 17 patients had all 3 seizure types. Valproic acid monotheraphy was the most commonly used anti-epileptic drug. The mean duration between the first seizure and the diagnosis of JME was 2.5 years. Four patients were initially admitted to psychiatric unit. Carbamazepine was the initial drug of choice in 7 patients. None of the patients admitted to the hospital because of their absence or myoclonic jerks. Conclusion: A reason in the delay of diagnosis of JME in our study seems, as the inattentiveness of the patients, or the parents, concerning the myoclonias. Inadequate questioning due to either the inexperience of the physician or to linguistic difficulties for sufficient communication may be other possible causes.

Clinical Characteristics and Prognosis of Juvenile Myoclonic Epilepsy: Single-Center Retrospective Study

“…37 In a study conducted in our country, the time elapsed between the first seizure and the diagnosis was found to be 2.5 years. 38 Ertem et al explained factors for this delay could be due to the low income and low education level of the patients, the difficulty in reaching a doctor, myoclonus, and absence not being considered as seizures by the patients. 38 He attributed these factors to the low number of neurologists in his region at the time of the study, the inability of patients to express themselves adequately, or the inability of doctors to question patients in detail.…”

“…38 Ertem et al explained factors for this delay could be due to the low income and low education level of the patients, the difficulty in reaching a doctor, myoclonus, and absence not being considered as seizures by the patients. 38 He attributed these factors to the low number of neurologists in his region at the time of the study, the inability of patients to express themselves adequately, or the inability of doctors to question patients in detail. In our study, patients with myoclonic seizures who first presented had a history of JME in their families, and since these patients knew that myoclonus were seizures, 93% of these patients had myoclonus as soon as they were diagnosed.…”