Mortality in tuberous sclerosis complex.

We studied mortality in tuberous sclerosis complex (TSC) by analyzing data from the Tuberous Sclerosis Alliance Natural History Database of 2233 patients from 18 United States TSC centers. Among 31 decedents with data; mean age of death was 29 years. Cause of death could be determined in 26 cases: 11 definitely related to TSC, 14 possibly related to TSC, and 1 unrelated to TSC. Causes of death included SUDEP in 11 (35.5%; Definite (5), Probable (4), Possible (2)), respiratory conditions in 6 (23.1%; lymphangiomyelomatosis in one), tumors in 3 (11.5%), suicide in 2 (7.7%), cardiopulmonary in 2 (7.7%), shunt malfunction in one, and drowning in one. For SUDEP cases, mean age of epilepsy onset was 7 months and 10/11 were treated with multiple anti-seizure medications (ASMs) at death; 7 had intractable epilepsy and 3 were controlled with ASMs. Patients with TSC and their families should be counseled about ASM adherence and lifestyle factors, and the potential role of nocturnal supervision or seizure detection devices to prevent SUDEP.

Total and partial posterior quadrant disconnection for medically refractory epilepsy: A systematic review.

PURPOSE: Posterior quadrant disconnection (PQD) is a surgical procedure for medically refractory epilepsy (MRE) involving diffuse regions of the temporo-parieto-occipital lobes. We sought to compare factors and efficacy according to PQD extent. METHODS: We performed a systematic review of the literature reporting the use of PQD since 2004. We analyzed various characteristics of pooled cases, including the role of preoperative studies in patient selection, intraoperative techniques, and outcomes. RESULTS: Our review of 137 patients from nine studies revealed 66% undergoing total PQD and 34% undergoing partial PQD. Interictal electroencephalography (EEG) findings were predominantly characterized as lateralized for total PQD (56%) and localized within the ipsilateral posterior quadrant in patients undergoing partial PQD (53%). Metabolic functional studies [positron emission tomography (PET) or ictal single-photon emission computed tomography (SPECT)] played a role in surgical decision-making in 42% of patients who underwent total PQD. Wada and/or functional magnetic resonance imaging (fMRI) was more often utilized for partial PQD (22%) than total PQD (3%) as was intracranial electroencephalography (icEEG) (30% versus 13%, respectively). Overall, 75% of total PQD patients achieved seizure freedom [defined as Engel I or International League Against Epilepsy (ILAE) Class 1 outcome] in comparison to 63% of partial PQD patients (p = .078). New visual field deficits were seen in 12% and new or worsened hemiparesis in 6%. For patients in either cohort, concordance of interictal and ictal EEG findings was found to be predictive of seizure freedom (p = .048). CONCLUSION: Both total and partial PQD represent effective alternatives for managing patients with MRE whose seizure onset zone (SOZ) involves a diffuse region within the posterior quadrant. While PET and/or SPECT frequently aided in the decision to proceed with total PQD, patients who underwent a tailored, partial multilobar resection were more likely to undergo Wada and/or fMRI testing as well as stage I icEEG studies.

Ictal EEG in patients with autistic spectrum disorder and epilepsy.

OBJECTIVE: Autism spectrum disorder (ASD) is a neurodevelopmental disorder frequently associated with epilepsy and epilepsy is a leading cause of death in ASD patients. Despite growing interest in genetic, neurophysiological and clinical overlaps, data on ictal electroencephalographic (EEG) recordings in ASD are lacking since behavioral disorders often make it difficult to obtain EEG recordings. We examined ictal EEG features in a consecutive series of patients with ASD and epilepsy. METHODS: We retrospectively identified 400 consecutive patients with ASD and epilepsy at our Level 4 Epilepsy center between 2015 and 2019; 45 had at least one EEG-recorded seizure captured. Demographics, age of nonfebrile seizure onset, age of ASD diagnosis, language, magnetic resonance imagining findings, genetic testing and EEG studies were reviewed. Seizures were classified by semiologic and electrographic features. Ictal findings were analyzed. RESULTS: A total of 497 seizures were captured in 45 patients: 20 patients with focal onset epilepsy had 126 seizures (median: 1, range: 1-30), 17 patients with generalized onset epilepsy had 88 seizures (median: 2, range: 1-15), 7 patients with Lennox-Gastaut syndrome had 270 seizures (median: 12, range: 1-74) and one patient had both right hemisphere focal and generalized onsets (12 focal, 1 generalized). SIGNIFICANCE: Our study is the first to analyze a large set of ictal data in patients with autism spectrum disorder, a population traditionally difficult to obtain ictal recordings. Our results confirm the diverse spectrum of seizure types and provide clinical-EEG correlates of seizures in ASD patients. Both focal-onset and generalized-onset seizures were recorded, confirming that ASD patients have higher rates of both focal and generalized epilepsy syndromes. Among patients with focal epilepsy, temporal and frontal onsets were frequent, suggesting the possibility of epilepsy surgery or brain stimulation. EEG to classify seizures and epilepsies is critical to determine therapeutic options and effort should be made to obtain EEGs in this heterogenous population.