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Background: We studied the natural history, genotype influence, and inter-relationship of epilepsy and neuropsychiatric disorders in tuberous sclerosis complex., Methods: Patients were identified using the TSC Natural History Database, the largest repository of longitudinally studied patients enrolled by the TSC Clinics Consortium., Results: A cohort of 1657 TSC Natural History Database patients was analyzed. Eighty-eight percent patients (91% TSC2 vs 82% TSC1; P = 0.002) had epilepsy; TSC2 was more frequent with epilepsy onset at age less than two years (TSC2 82% vs TSC1 54%; P < 0.001) and infantile spasms (TSC2 56% vs TSC1 27%; P < 0.001). Frequency of intellectual disability (intelligence quotient less than 70) was higher when epilepsy coexisted (P < 0.001), but was not impacted by genotype (P = 0.08). Severe intellectual disability (intelligence quotient less than 50) was associated with epilepsy onset at age less than two years (P = 0.007), but not with the epilepsy duration (P = 0.45). Autism was diagnosed in 23% and was associated with epilepsy (P < 0.001), particularly with epilepsy onset at age less than two years (P = 0.02) but not with genotype (P = 0.06). Attention-deficit/hyperactivity disorder (age greater than four years) was diagnosed in 18% and was associated with epilepsy (P < 0.001), but genotype made no difference. Nine percent had anxiety (age greater than seven years) and 6% had depression (age greater than nine years), but neither showed association with epilepsy or genotype., Conclusions: Epilepsy is associated with intellectual disability, and when epilepsy begins before age two years the frequency and severity of intellectual disability is much higher. Epilepsy is also associated with autism and attention-deficit/hyperactivity disorder but not with anxiety and depression. Additional trials, blinded, prospective, and adequately powered, will help clarify if early and effective treatment of epilepsy may also mitigate intellectual disability, autism, and attention-deficit/hyperactivity disorder., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Background: Lennox-Gastaut syndrome is a catastrophic childhood cryptogenic or symptomatic epilepsy. Hypothalamic hamartomas cause refractory epilepsy often consistent with Lennox-Gastaut syndrome., Methods: Children with Lennox-Gastaut syndrome were defined by a triad of multiple generalized seizure types, slow spike-and-wave on EEG, and mental retardation., Results: Twenty-one of 159 hypothalamic hamartoma patients (14%) met the diagnostic criteria of Lennox-Gastaut syndrome. The median age of patients at epilepsy onset was 0.9 years (range, birth to 9 years). Six of the 21 patients (28%) had preceding infantile spasms. All patients underwent different surgical approaches, including endoscopic, transcallosal, orbitozygomatic resections, and radiosurgery treatment. Five of the 21 (24%) were seizure free with an additional 9 (42%) having at least >90% seizure reduction. Only 1 patient was not effectively treated (<50% seizure reduction). Eighty-eight percent of parents reported improvement in behavioral functioning. Shorter duration of epilepsy prior to surgery was a significant predictor of surgical outcome., Conclusions: Patients with Lennox-Gastaut syndrome symptomatic to hypothalamic hamartomas have better postsurgical outcome due to other etiologies compared with cryptogenic and symptomatic Lennox-Gastaut syndrome patients. However, compared with overall hypothalamic hamartomas postsurgical outcomes, this cohort was less favorable. Earlier surgery may lead to better outcomes., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Lennox-Gastaut syndrome is a severe childhood epilepsy disorder characterized by encephalopathy and multiple, often intractable, seizure types. The drop attack is the most frequently recognizable seizure type in this patient population, and is also the most dangerous physically, thus severely limiting quality of life. The diagnosis is confirmed by electroencephalography, for which the classic pattern is a slow 2.5 Hz generalized spike-and-wave. Newer pharmacologic treatments include rufinimide and clobazam. However, antiepileptic drugs are often exhausted in pursuit of seizure control requiring nonpharmacologic interventions. These include dietary therapies, vagus nerve stimulation, and epilepsy surgery, including corpus callosotomy and focal curative resection. Although large lobar resections are often required, very localized, discrete resections may be possible, as in symptomatic Lennox-Gastaut syndrome (specifically, hypothalamic hamartoma). We review the history of the disease and current management options., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Retrospective review was performed of children aged <3 years with epileptic spasms at our center from 2004-2010. Short-term (<6 months) and long-term (≥6 months) outcomes were assessed. We included 173 children (104 boys; median age of onset, 6.8 months) with epileptic spasms of known (62%) and unknown (38%) etiology. Treatments included adrenocorticotropic hormone (n = 103), vigabatrin (n = 82), phenobarbital (n = 34), and other agents (n = 121). Short-term treatment with adrenocorticotropic hormone and vigabatrin provided better epileptic spasm control in groups with known and unknown etiology than other agents. At follow-up (6-27 months), 54% of children manifested seizures, and 83% manifested developmental delay. Known etiology was a predictor of poor developmental outcome (P = 0.006), whereas bilateral/diffuse brain lesions predicted both poor development and seizures (P = 0.001 and 0.005, respectively). Initial presentations of epileptic spasms with hypotonia or developmental delay most strongly predicted both seizures and neurodevelopmental outcomes (P < 0.001). In a child presenting with epileptic spasms with developmental delay or hypotonia, no specific treatment may offer superior benefit., (Copyright © 2012 Elsevier Inc. All rights reserved.)

The present study investigated a possible correlation between prenatal stress and the onset of infantile spasms. A total of 120 infants (60 cases, 30 positive controls, and 30 negative controls) went through routine etiologic screening. The Pregnant Woman Life Event Scale was used to investigate and evaluate the degree of prenatal stress of the mothers in the three infant groups. Etiologic analyses indicated no statistical difference between the infantile spasms group and the other epilepsy control group. There was a significant difference in the degree of prenatal stress among mothers of the three infant groups, with higher maternal prenatal stress levels in the infantile spasms group than in the other epilepsy group (positive control) or the normal control group (P < 0.05). Regression analysis with the dummy variable indicated that the onset risk of infantile spasms correspondingly increased with the degree of maternal prenatal stress for stress levels 1-3 (out of four levels) (P < 0.05). Within a certain range, the onset risk of infantile spasms increases with the degree of prenatal stress., ((c) 2010 Elsevier Inc. All rights reserved.)

The health records of 76 infants with infantile spasms (IS) were reviewed retrospectively. The distribution of seizure onset was examined with respect to calendar month, annual changes in day length (photoperiod), and global solar radiation (GSR). IS onset was more frequent during the months with low GSR and short photoperiods. The greatest frequency of IS onset was in December and January (22 cases, 29%); the lowest was in April and May (8 cases, 10.5%). IS onset frequency (f) was more than twice as great in the months with a short photoperiod (10Light-14Dark) and a low GSR (f = 11) as compared with months with a long photoperiod (16Light-8Dark) and a high GSR (f = 5). IS onset frequency was 2.2-fold greater in months with a short photoperiod and a low GSR. This finding suggests that environmental photoperiodic factors (zeitgebers) may play a role in the onset of IS.

This population-based, retrospective cohort study of neonatal seizures included all 16,428 neonates born to residents of Fayette County, Kentucky, from 1985 to 1989. Eighty potential cases were ascertained by computer search of hospital-based medical record systems, birth certificate data files, and multiple-cause-of-death mortality data files. Medical records for potential cases were abstracted, and relevant portions were reviewed independently by three neurologists using prospectively determined criteria. Both unweighted and weighted kappa statistics were used to measure agreement between each pair of observers in the classification of potential cases as seizures, possible seizures, or not seizures, adjusting for the proportion of agreement expected by chance. Agreement in the classification of potential cases was excellent (kappa = 0.72-0.79, average = 0.76; weighted kappa = 0.85-0.88, average = 0.87). The kappa extension statistic of Kraemer was used to assess agreement in the classification of seizure types by a simplification of the classification scheme of Volpe. This documented excellent agreement between raters in the classification of seizure types (kappa e = 0.72). Experienced raters can reliably classify potential cases of neonatal seizures using seizure descriptions transcribed from medical records.