Epilepsy with myoclonic absences: a case series highlighting clinical heterogeneity and surgical management.

OBJECTIVE: Epilepsy with myoclonic absences is a rare epilepsy syndrome with distinct features and high rates of drug resistance. Identifying this syndrome may help guide treatment decisions. We highlight clinical heterogeneity in this case series and two cases in which corpus callosotomy was performed. METHODS: Medical records were reviewed between 2017 and 2021 to identify demographics, comorbidities, age at onset, EEG findings, diagnostic evaluations, seizure semiologies, seizure frequency, anti-seizure medications, diet therapy and surgical treatments in patients with myoclonic absences. RESULTS: Ten patients were identified including twins with myoclonic absence status epilepticus. Forty percent had an atonic component, 20% presented with myoclonic absence status epilepticus and 60% had incomplete control of seizures at last follow-up visit. Two patients with epilepsy with myoclonic absences with atonia underwent corpus callosotomy; one patient was seizurefree eight months after surgery and the other had greater than 50% seizure reduction over a five-month period. SIGNIFICANCE: Phenotypic heterogeneity was evident based on seizure semiologies, comorbidities, seizure frequency and response to anti-seizure medications and non-medication treatments. Of patients with an atonic component, 75% did not achieve seizure freedom with medication alone. Corpus callosotomy was performed in two of these patients with encouraging seizure response thus far, however, the efficacy of this treatment should be further evaluated in a larger study.

Dazed and Confused: Altered Mental Status in an Adolescent Male.

BACKGROUND: Absence status epilepticus (ASE) is a form of generalized nonconvulsive status epilepticus. ASE is characterized by impairment in consciousness, which can vary widely, making the diagnosis more difficult. The typical patient with ASE will be confused yet responsive and in a "trance-like state" with delayed speech, clumsy gait, and the ability to perform simple tasks after prompting. With treatment, typical ASE has an excellent prognosis and does not appear to be associated with significant neuronal damage. CASE PRESENTATION: An 11-year-old boy with history of febrile seizures presented to the emergency department (ED) with altered mental status without trauma or ingestion. His vital signs and physical examination were normal, with the exception of appearing intoxicated with sparse verbalization and inappropriate emotional responses. All laboratory results and imaging were unremarkable. While in the ED, his neurologic examination trended toward normal, returning almost to baseline. He was admitted to the hospital for video electroencephalogram, which revealed status epilepticus. After benzodiazepine therapy, epileptic electrical activity ceased and the patient's symptoms resolved. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: ASE is a rare condition that is uncommonly described in the pediatric population. These patients are frequently misdiagnosed on initial presentation as their alteration in mental status can be easily confused with ingestion, trauma, psychiatric illness, or infectious etiologies. Overturning the long-standing emergency dogma of "if they're talking to you, it's not a seizure" is undoubtedly difficult, but both pediatric and adult providers should be aware of this clinical entity.

Efficacy of artisanal preparations of cannabidiol for the treatment of epilepsy: Practical experiences in a tertiary medical center.

Medically refractory epilepsy continues to be a challenge worldwide, and despite an increasing number of medical therapies, approximately 1 in 3 patients continues to have seizures. Cannabidiol (CBD), one of many constituents of the Cannabis sativa or marijuana plant, has received renewed interest in the treatment of epilepsy. While highly purified CBD awaits Food and Drug Administration (FDA) approval, artisanal formulations of CBD are readily available and are seeing increased use in our patient population. Although randomized controlled trials of CBD are ongoing and promising, data regarding artisanal formulations of CBD are minimal and largely anecdotal. Here, we report a retrospective study to define the efficacy of artisanal CBD preparations in children with epilepsy. Given the known interaction between CBD and clobazam, we also conducted a subgroup comparison to determine if clobazam use was related to any beneficial effects of CBD. Additionally, we compared response rates with CBD and with clobazam alone within an overlapping patient cohort. A pediatric cohort with epilepsy of 108 patients was identified through a medical record search for patients using CBD oil. The addition of CBD resulted in 39% of patients having a >50% reduction in seizures, with 10% becoming seizure-free. The responder rate for clobazam was similar. No patients achieved CBD monotherapy, although the weaning of other antiepileptic drugs (AEDs) became possible in 22% of patients. A comparable proportion had AED additions during CBD therapy. With concomitant use of clobazam, 44% of patients had a 50% reduction in seizures upon addition of CBD compared with 33% in the population not taking clobazam; this difference was not statistically significant. The most common reported side effect of CBD was sedation in less than 4% of patients, all of whom were also taking clobazam. Increased alertness and improved verbal interactions were reported in 14% of patients in the CBD group and 8% of patients in the CBD and clobazam group. Benefits were more marked in the CBD alone group, in contrast to the CBD and clobazam group, but this difference was not statistically significant. In summary, these findings support efficacy of artisanal CBD preparations in seizure reduction with few significant side effects. The response to CBD was independent of concurrent clobazam use, although clobazam may contribute to the sedation seen with concurrent CBD use.

Prediction of specific depressive symptom clusters in youth with epilepsy: The NDDI-E-Y versus Neuro-QOL SF.

OBJECTIVE: Proper assessment and early identification of depressive symptoms are essential to initiate treatment and minimize the risk for poor outcomes in youth with epilepsy (YWE). The current study examined the predictive utility of the Neurological Disorders Depression Inventory-Epilepsy for Youth (NDDI-E-Y) and the Neuro-QOL Depression Short Form (Neuro-QOL SF) in explaining variance in overall depressive symptoms and specific symptom clusters on the gold standard Children's Depression Inventory-2 (CDI-2). METHODS: Cross-sectional study examining 99 YWE (female 68, mean age 14.7 years) during a routine epilepsy visit, who completed self-report measures of depressive symptoms, including the NDDI-E-Y, CDI-2, and the Neuro-QOL SF. Caregivers completed a measure of seizure severity. All sociodemographic and medical information was evaluated through electronic medical record review. RESULTS: After accounting for seizure and demographic variables, the NDDI-E-Y accounted for 45% of the variance in the CDI-2 Total score and the CDI-2 Ineffectiveness subscale. Furthermore, the NDDI-E-Y predicted CDI-2 Total scores and subscales similarly, with the exception of explaining significantly more variance in the CDI-2 Ineffectiveness subscale compared to the Negative Mood subscale. The NDDI-E-Y explained greater variance compared to Neuro-QOL SF across the Total (48% vs. 37%) and all CDI-2 subscale scores; however, the NDDI-E-Y emerged as a stronger predictor of only CDI-2 Ineffectiveness. Both the NDDI-E-Y and Neuro-QOL SF accounted for the lowest amount of variance in CDI-2 Negative Mood. Sensitivity was poor for the Neuro-QOL SF in predicting high versus low CDI-2 scores. SIGNIFICANCE: The NDDI-E-Y has strong psychometrics and can be easily integrated into routine epilepsy care for quick, brief screening of depressive symptoms in YWE.