Diagnostic gap in genetic epilepsies: A matter of age.

OBJECTIVE: This study aimed to evaluate the access to advanced diagnostic tests in patients with epilepsy and intellectual disability, with special focus on genetics. METHODS: Patients with epilepsy and intellectual disability evaluated between 2016 and 2018 at the Epilepsy Unit of two hospitals in Madrid, Spain were included. The main inclusion criterion was an undetermined etiological diagnosis after clinical assessment, neuroimaging, and electroencephalogram (EEG). RESULTS: Two hundred and five patients with epilepsy and intellectual disability were evaluated, with 124 fulfilling the inclusion criteria (mean age: 33.9 years). Regarding the etiological workup, advanced neuroimaging, prolonged video-EEG, and any type of genetic test had been performed in 58%, 41%, and 40%, respectively. An etiological diagnosis was reached in 18.5%. The workup was considered incomplete in 67%. Variables that showed the strongest association with an incomplete diagnostic workup in the multivariate analysis were current age and seizure freedom. CONCLUSIONS: Despite the multiple implications of modern diagnostic techniques, especially genetic testing, there is a large proportion of patients with epilepsy and intellectual disability who do not have access to them. Older age and seizure freedom seem to be associated with the highest diagnostic gap.

Cost of status epilepticus (SE): Effects of delayed treatment and SE duration.

BACKGROUND: The health expenditure related to status epilepticus (SE) is high because of lengthy hospitalization requirements and possible sequelae. We aimed to study the factors associated with this cost including the different timings of the treatment and SE duration. METHODS: We evaluated retrospectively all SE recorded in 2 hospitals. The factors studied included the mean cost of hospitalization, demographics, clinical data, duration of hospitalization, in-hospital/out-of-hospital debut, time from onset to treatment, duration of SE, and destination at discharge. RESULTS: Three hundred five patients were evaluated (December/2012-July/2017), 195 with out-of hospital and 110 with in-hospital debut. The cost of SE with out-of-hospital onset was significantly lower (6559€ vs 15,174€; p = 0.0001). In out-of-hospital cases, the factors independently related to expenditure were the level of consciousness (p < 0.001), presence of complications (p = 0.005), a potentially fatal etiology (p = 0.008), and duration of the episode (p = 0.003). Duration was significantly higher in patients discharged to a convalescence center (p = 0.006); this variable was significantly related to the time SE onset-arrival to hospital, and SE onset-administration of the treatment. In the in-hospital cases, cost was related to male sex (p = 0.002), the development of complications (p = 0.003), and the etiology (p = 0.016) but was not directly related to the SE duration or to the time onset-treatment. CONCLUSIONS: The duration of SE and the speed with which proper management is applied have a direct impact on the healthcare expenditure resulting from out-of-hospital SE. In contrast, the etiology and development of complications are the main factors responsible for expenditure related to in-hospital SE.