Objective In low- and middle-income countries (LMICs), access to trio-based whole-exome or whole-genome sequencing is limited, which may delay genetic diagnosis in developmental and epileptic encephalopathies (DEE). We used clinical features to guide targeted genetic testing and reviewed the results through multidisciplinary discussion in a Vietnamese pediatric cohort with early-onset DEE and examined its association with treatment decision-making. Methods: We prospectively enrolled 51 children aged 0–23 months with early-onset DEE at a tertiary pediatric center in Vietnam between November 2023 and April 2025. Clinical phenotyping included seizure semiology, EEG, and brain MRI. Prior to testing, patients were categorized as hypothesis-driven or non–hypothesis-driven based on clinical and paraclinical features. Targeted sequencing of 108 DEE-associated genes was performed. Variants were reviewed by geneticists and then discussed in multidisciplinary sessions including clinicians. Treatment changes and seizure outcomes were assessed six months after genetic results were disclosed. Results: Pathogenic or likely pathogenic variants were identified in 25 of 51 patients (49%). Diagnostic yield differed between the hypothesis- driven and non–hypothesis-driven groups (93.3% vs 30.6%, p < 0.001). Channelopathy-related genes accounted for the largest proportion of genetic diagnoses. Among genetically diagnosed patients, 20 of 25 had a treatment change accompanied by a ≥ 50% reduction in seizure frequency. In genotype-negative patients with infantile spasms syndrome, phenotype-guided treatment adjustment was followed by effective seizure control in most cases. Significance: In this cohort, using clinical features to guide targeted genetic testing, combined with multidisciplinary review of results, was associated with higher diagnostic yield in a hypothesis-driven subgroup and was frequently accompanied by treatment changes linked to improved seizure control.
Objective To examine how adults with epilepsy in Uganda experienced epilepsy self-management, stigma, and care following participation in a peer-led intervention (SMART-U) compared to enhanced treatment as usual (ETAU). Methods This qualitative study was embedded within an ongoing randomized controlled trial at two university neurology clinics. A purposive subsample from both study arms completed semi-structured interviews at 13 (n = 16) and 24 weeks post-intervention (n = 16). Interviews explored perceived benefits and challenges of care, self-management behaviors, stigma and recommendations for improvement. Transcripts were analyzed using thematic analysis. Results Four themes emerged: barriers to self-management, self-management behaviors and attitudes, participant perspectives on care, and facilitators of self-management. Participants in both groups described significant structural and social barriers, including stigma, limited support, and challenges accessing care. However, SMART-U participants more frequently reported increased confidence, engagement in proactive self-management (e.g., stress management, planning around seizures), improved communication with providers, and greater ability to cope with stigma. In contrast, ETAU participants more often characterized epilepsy care as provider-driven, with fewer changes in attitudes or behaviors. Over time, SMART-U participants demonstrated clearer shifts toward self-efficacy and a more reflective understanding of epilepsy. Conclusions Peer-led self-management support may enhance engagement, coping, and self-efficacy among people with epilepsy in resource-limited settings. Addressing stigma and strengthening social and healthcare support may be critical for improving outcomes in low-middle income countries.
Brivaracetam (BRV) and levetiracetam (LEV) are structurally similar, causing LEV immunoassays (IA) to cross-react with BRV, the real-world clinical implications of which have not been previously characterized. We analyzed 36 patients with 54 serum level measurements, including levels drawn when patients were not receiving the corresponding medication or simultaneous LEV/BRV levels when both ASM were co-administered. LEV levels were measured by IA; BRV levels by LC-MS/MS. Among 14 paired measurements in BRV-only patients, the median cross-reactivity ratio was 14.7. False-positive LEV levels at therapeutic BRV concentrations fell within or above the LEV therapeutic range, making the artifact clinically indistinguishable from true LEV exposure when co-prescribed with BRV. Erroneous orders accounted for 28/54 observations, most commonly from stale standing orders persisting after LEV-to-BRV conversion. Cross-reactivity influenced clinical management in 7/54 observations. Despite this cross-reactivity being well established in literature, our case series demonstrated that this knowledge might not have adequately translated to clinical practice, resulting in misinterpretation of serum levels impacting clinical decisions. Given the complexity of modern healthcare workflows, reliance on individual clinician awareness is insufficient; electronic medical record systems should explore implementing medication-laboratory linkage alerts. Lastly, LEV LC-MS/MS should be used when both anti-seizure medications (ASM) are co-prescribed.
Purpose Childhood epilepsy imposes psychological burden not only on the affected child but also on caregivers. This study aimed to compare parenting stress and life satisfaction between parents of children and adolescents with epilepsy and parents of children and adolescents without a chronic condition, and to identify demographic and clinical factors associated with these outcomes among parents of children and adolescents with epilepsy. Methods This cross-sectional study included 58 parents of children and adolescents aged 9–19 years with epilepsy and 44 parents of hospital-based control children and adolescents without a chronic condition (N = 102). Questionnaires were completed by the responding parent, typically whichever parent accompanied the child or adolescent to the clinical visit. Parenting stress and life satisfaction were assessed using the Parenting Stress Index–Short Form (PSI-SF) and the Satisfaction With Life Scale (SWLS), respectively. The SWLS captured the responding parent’s own global life satisfaction. Group comparisons were performed using Welch’s t test or the Mann–Whitney U test, as appropriate. Multiple linear regression was used to identify factors independently associated with parenting stress and life satisfaction, with Holm–Bonferroni correction applied for multiple comparisons. Results Parents in the epilepsy group reported higher PSI-SF total scores than controls (84.88 ± 24.04 vs. 72.73 ± 18.61, P = 0.005, Hedges’ g = 0.55); among the subscales, the difference in Parental Distress remained significant after Holm–Bonferroni correction, whereas the differences in Parent–Child Dysfunctional Interaction and Difficult Child did not. Life satisfaction did not differ significantly between groups (22.77 ± 7.00 vs. 23.98 ± 7.49, P = 0.442), and the confidence interval did not exclude a meaningful difference. Group membership remained associated with parenting stress after adjustment for the measured demographic covariates (child/adolescent age and sex, paternal education, and economic status) (b = 12.13, P = 0.010). Within the epilepsy group, parents of children with a seizure reported within the preceding 6 months had higher PSI-SF scores than parents of children without such a seizure (102.1 ± 22.0 vs. 81.1 ± 23.0, P = 0.027); all clinical analyses were exploratory. Conclusion In this hospital-based sample, parents of children and adolescents with epilepsy reported higher PSI-SF scores than parents of controls, whereas findings for life satisfaction and for seizure-related determinants were inconclusive or exploratory. Given the limited neurological phenotyping available in this sample, these findings primarily reflect elevated caregiver stress rather than identify specific clinical drivers of that stress. These findings support routine psychosocial screening of caregivers as part of comprehensive care for children and adolescents with epilepsy.
Background Aphasic status epilepticus (ASE) is an uncommon manifestation of focal status epilepticus in which aphasia is the sole or predominant clinical feature. Recognition may be difficult because consciousness can be relatively preserved, convulsive activity may be absent, and the presentation can mimic acute stroke. Objective To characterize diagnostic phenotypes of adult ASE and synthesize clinical, electrographic, and neuroimaging features across published cases. Methods We conducted a systematic review and patient-level synthesis of adult ASE cases. Eligible patients were adjudicated as definite or probable ASE using prespecified criteria. Clinical phenotype, electroencephalographic (EEG) findings, neuroimaging, initial diagnostic impressions, treatment, and language outcomes were extracted. Results Ninety-nine publications contributed 168 adults with ASE, including 89 definite and 79 probable cases. Aphasia was the sole manifestation in 42.9% and predominant in 57.1%, while consciousness was preserved in 78.0%. Ictal EEG activity or electrographic status epilepticus was documented in 53.0%, and 41.7% had supportive epileptiform abnormalities. Among cases with interpretable EEG laterality, 92.7% were left-lateralized. Peri-ictal MRI abnormalities occurred in 41.2% of performed interpretable studies. Among 55 patients with interpretable functional perfusion or metabolic imaging, hyperperfusion was reported in 32. FDG-PET hypermetabolism was treated as a distinct metabolic finding. Stroke or transient ischemic attack was the most frequent reported initial impression (44.2%). Complete language recovery was reported in 77.4% of evaluable patients. Conclusions Published adult ASE cases show a heterogeneous phenotype in which recognition commonly rests on concordance between language disturbance and focal EEG abnormalities, with peri-ictal imaging providing complementary evidence. These findings do not establish diagnostic accuracy of individual features or multimodal combinations.
