BACKGROUND
We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
METHODS
Individuals with CAE or JAE underwent both an rEEG and a 24-h ambulatory EEG (24-h-aEEG). Participants were classified as 'rEEG positive' if generalised spike-wave discharges (GSWs) and/or typical absences (TAs) were observed, and as 'rEEG negative' if no such features were detected. 24-h-aEEG recordings served as the ground truth to confirm the diagnosis in cases with a negative rEEG.
RESULTS
Eighty-two individuals [40/82 (48.8%) females; mean age 12.5 ± 5.6 years] were included, of whom 39/82 (47.6%) were not receiving anti-seizure medications (ASMs) at the time of the EEG. Overall, 31/82 (37.8%) had a negative rEEG, including 10/39 (25.6%) in the cohort of ASM-naïve individuals. Compared with rEEG-positive participants, those in the rEEG-negative group had a later age at epilepsy onset (12.1 ± 4.5 years; p < 0.001) and were older at the time of EEG (16.5 ± 5.3 years; p < 0.0001). Older age at EEG emerged as significantly associated with a negative rEEG (OR = 1.23; 95% CI = 1.03-1.46; p = 0.019), independent of age at onset, epilepsy syndrome (CAE or JAE) and ASM exposure. Sensitivity analyses confirmed the association between older age and rEEG negativity across all cohorts: ASM-naïve individuals (OR = 1.41; 95% CI = 1.12-1.78), CAE (OR = 1.27; 95% CI = 1.02-1.58), and JAE (OR = 1.36; 95% CI 1.09-1.69) groups. Youden's exploratory analysis identified ≥ 14 years as the optimal threshold for predicting a rEEG negative.
CONCLUSION
Age significantly reduces the diagnostic yield of rEEG in CAE and JAE, regardless of ASM treatment.
F. Fortunato, A. Giugno, M. Sturniolo et al.· Annals of Clinical and Trans...· 0 citations
OBJECTIVE
The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome-wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS.
METHODS
We identified participants with highest (n = 59) versus lowest (n = 48) PRS from the GGE patients (n = 2256) recruited through the Epi25 Collaborative for comparison. Detailed clinical data were acquired retrospectively for the 59 high PRS and 48 low PRS individuals with GGE from the Epi25 database and from the contributing centers. For validation, we accessed a larger cohort (n = 1175) of patients with GGE included in the Epi25 Collaborative.
RESULTS
This study found no difference in phenotypic features of patients between the high-PRS GGE and low-PRS GGE subgroups, including age at onset, family history, and specific GGE syndrome. However, more patients from the lowest compared to the highest PRS subgroup were pharmacoresistant (31.7% vs. 8.9%, p = .01). On validation in a larger cohort, the PRS did not differ in the group of pharmacoresistant compared to nonpharmacoresistant patients.
SIGNIFICANCE
No meaningful association between PRS and age at onset, history of febrile seizures, pre-/perinatal complications, epilepsy syndromes, seizure types, co-occurrence of functional/dissociative (nonepileptic) seizures, psychiatric comorbidities, electroencephalographic/magnetic resonance imaging findings, or drug response could be demonstrated in this study of people with GGE.
Sophie von Brauchitsch, Nils Hartung, R. Karge et al.· Epilepsia· 0 citations
Seizure freedom can improve all domains of QoL, but mainly Seizure worry, although this can be negatively affected by depressed mood, and improvement in the domain of Social functioning requires a period of sustained seizure freedom longer than 6 months to improve, and it is negatively influenced by persistent depressed mood.
Marco Mula, S. Borghs, Bruno Ferrò et al.· Epilepsia· 0 citations
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