Use of social media to assess the effectiveness of vagal nerve stimulation in Dravet syndrome: A caregiver's perspective.

BACKGROUND: Dravet syndrome (DS) is a rare genetic epilepsy syndrome which is particularly pharmacoresistant. Vagus nerve stimulation (VNS) is commonly used in the treatment of DS as an adjunct to medical therapy. A meaningful assessment of post-surgical outcomes with VNS is difficult given the rarity of the condition. OBJECTIVE: In a novel approach, we used social media to contact patients with DS to gather data on post-surgical seizure reduction and overall satisfaction with VNS. METHODS: A survey consisting of 10 questions was posted to a social media webpage for a DS support group moderated by the Dravet Syndrome Foundation. The results were analyzed and percentages reported using the integrated SurveyMonkey analytical software. RESULTS: 49 responses were received. We found that 28.5% of patients had a >50% reduction in seizure frequency after VNS placement, 55.8% felt that VNS therapy had helped to reduce seizure frequency, and 83.7% felt that seizure severity had improved. Of the respondents, 75% felt that they would undergo VNS implantation again for similar outcomes. CONCLUSIONS: We employed the novel technique of using social media to gather the largest set of self-reported outcomes of VNS therapy for Dravet syndrome. As corroborated by prior studies of VNS effectiveness in Dravet syndrome, there is significant albeit limited improvement in seizure control. Our study shows that despite this limitation, it is still considered a useful treatment adjunct from a caregiver's perspective.

ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.

Paroxysmal exercise-induced dyskinesias (PED) are paroxysmal dyskinesias which manifest as dystonic movements brought on by sustained exercise. ECHS1 deficiency-induced EID was recently described by Olgiati et al. Our patient is an 8-year-old boy, who presented with intermittent episodes of stiffness and contractions affecting the legs which were always brought on by vigorous exertion. They began with curling of the toes and flexion, followed by stiffening of gait. These episodes were asymmetric, uncomfortable and often began in the left leg, often spreading to the right leg. They generally lasted for about 30-40 min. The phenomenology was noted to be dystonic affecting mostly the left leg, with equinus at the ankle and hyperextension at the knee. MRI of the brain showed regions of increased T2 and FLAIR signal and of T1 low signal in the globus pallidus bilaterally with mild diffusion restriction. Using Ambry's ExomeNextTM, an integrated exome sequencing assay, the patient was found to be heterozygous for alterations in the ECHS1 gene: missense mutations in c.518C>T (p.A173V) and c.817A>G (p.K273E). After 3 months of treatment with a mitochondrial cocktail, the patient reported that his attacks were somewhat less frequent and less severe. We decided to continue the patient on the cocktail and prescribed clonazepam 0.5 mg 1 tab to be given, as needed, for acute dystonic episodes of severe degree. The missense mutation c.817A>G has never been associated with PED before. Further, we present the first case of ECH1-associated PED with initial symptomatic improvement with a mitochondrial cocktail.

Intracranial electrographic analysis of preictal spiking and ictal onset in uni- and bitemporal epilepsy.

AIM: Ictal onset patterns in bilateral mesial temporal lobe epilepsy have not been comprehensively studied. A retrospective review of intracranial electrographic data was undertaken to establish whether it is possible to distinguish between unilateral and bilateral mesial temporal lobe epilepsy based on ictal onset patterns, including periodic preictal spiking. METHODS: A total of 470 ictal onset patterns were analyzed by bitemporal extraoperative electrocorticography in 13 patients with medically intractable mesial temporal lobe epilepsy. Ictal onset patterns were categorized, by frequency, as type A (<12 Hz), type B (12-40 Hz) and type C (>40 Hz). Preictal rhythmic spiking, of at least five seconds duration, and time to contralateral propagation were also measured with each ictal event. We determined if the proportion of "ictal onset pattern frequencies" or "incidence of preictal spiking" differed between unilateral and bilateral mesial temporal lobe epilepsy. RESULTS: Seven patients with unilateral mesial temporal lobe epilepsy received surgery and achieved Engel class I outcomes, while the remaining six did not undergo resective surgery, due to the bilateral ictal onsets in extraoperative electrocorticography. The proportion of patients experiencing any preictal spikes was higher in unitemporal than in bitemporal cases (100% vs 50%;p=0.069). Ofthe470 ictal onset patterns analyzed (174 unitemporal and 296 bitemporal), a significant greater percentage of preictal spikes was found in unilateral cases (78% unitemporal vs 14% bitemporal; p=0.002). Low-frequency patterns were more evident in bitemporal cases (45%) than in unitemporal (10%), although the difference was not statistically significant (p=0.129). No differences were detected between the unitemporal and bitemporal groups regarding age at onset or at presentation. CONCLUSION: A greater proportion of pre ictal spiking, based on extraoperative electrocorticography, was present in unilateral, compared to bilateral, mesial temporal lobe epilepsy. Further studies are warranted to determine the causal significance of preictal spiking in mesial temporal lobe epilepsy.

Analysis of scalp EEG and quantitative MRI in cases of temporal lobe epilepsy requiring intracranial electrographic monitoring.

Abstract Purpose. Contradictory scalp electroencephalographic (sEEG) and discordant imaging features are common in temporal lobe epilepsy (TLE). We assessed the relative importance of sEEG features and their relation to quantitative magnetic resonance (MR) imaging measures in regard to surgical outcome. Methods and materials. Patients with a putative TLE underwent extraoperative electrocorticography (eECoG) with bitemporal subdural electrodes for clarification of the ictogenic source. Patients were categorized by sEEG ictal patterns (IPs) as showing unilateral or bilateral onset. Concordance with the side of resection, as determined by eECoG, to that suggested by the predominant sEEG IP was further analysed as: (a) entirely ipsilateral eECoG IPs with discordant nonelectrographic data; (b) ipsilateral preponderant (> 80%) eECoG IPs; and c) contralateral preponderant (> 80%) eECoG IPs. Quantitative hippocampal volumes and signal characteristics were applied for comparison. Results. Of 26 patients, eECoG confirmed a unilateral IP on sEEG in 19 (73%). Of these 19, exclusively ipsilateral sEEG interical epileptiform discharges (IEDs) were identified in 9 (47%). When bilateral, generalized, absent or contralateral IEDs were found, 6 cases (60%) still showed a preponderantly ipsilateral IP identifying the epileptogenic side. In patients with sEEG bilateral IPs, 5 (71%) also had bilateral IEDs. Of the 16 patients who underwent resection, 14 (87.5%) achieved favourable outcomes and 9 (56%), seizure cessation. Hippocampal volumetry in 23 patients correctly lateralized 7 (30%) whereas fluid-attenuated inversion recovery (FLAIR) signal measures applied in 23 patients lateralized 9 (39%). Conclusions. Favourable surgical outcomes are attainable following eECoG in cases where ambiguity exists regarding the laterality of TLE on sEEG, even for those in whom bilateral IPs and either bilateral or no IEDs are demonstrated on sEEG. Neither volumetric nor FLAIR signal ratios were sufficiently reliable for lateralizing TLE in the majority of cases.