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Purpose: Analyzing parents' and physicians' opinions regarding phone-based encounters in emergency shifts of a French pediatric epilepsy center compared to traditional face-to-face encounters during the first lockdown of the COVID-19 pandemic METHODS: Prospective monocentric study on remote encounters at Necker rare epilepsy reference center from March 20th, 2020 to April 23rd, 2020 due to lockdown measures. This study was conducted with a survey based on 5-point Likert scales (LS-2/2) designed for both parents and physicians. We compared first versus follow-up encounters as well as physicians' and parents' opinions.Results: We had a total of 224 responses, among which 204 were completed by physicians (91%) and 173 (84,4%) by parents. Twenty five were first encounters (14,2%). Physicians pointed out the need for clinical examination (42.6%), mainly for first encounters (p=0.0004). Physicians rated the quality of communication lower (p=0.003) as their capacity to answer parents' questions (p=0.004). They were significantly less satisfied with remote encounters compared to parents (p<10-4). We identified six urgent (2.9%) and 50 semi-urgent (24%) situations requiring programming face-to-face encounter during or shortly after the lockdown.Conclusion: Remote encounters could be a helpful practice for pediatric patients with epilepsy in emergency situations such as pandemics. It allowed the identification and prioritization of emergency situations. Physicians were less positive than parents. We raised the possible use of remote encounters in association to face-to-face encounters for routine follow-up of pediatric patients with epilepsy. [ABSTRACT FROM AUTHOR]

Abstract: Although status epilepticus (SE) affects the course of Dravet syndrome (DS), it rarely alters dramatically psychomotor outcome. We report an unusual pattern in 3 patients who following refractory SE lasting respectively 2, 7 and 12h experienced persistent and severe cognitive and motor deterioration. We compared these patients to published data and to personal experience in Necker hospital, to find links between severe outcome and clinical features such as treatment or duration of refractory SE. The key point was that anoxoischemic-like lesions appeared on MRI although cardiovascular function had remained stable. Therefore, neither hemodynamic failure, nor abnormalities of cardiac rhythm could explain the lesions and neurological worsening. For theoretical reasons the responsibility of therapy common for the 3 patients, e.g., barbiturates was suspected. [Copyright &y& Elsevier]

Summary: Rasmussen encephalitis (RE) is a severe and progressive focal epilepsy of unknown origin that leads to deterioration of motor and cognitive function. In a previous study, we described positive effect of high doses of steroids during the first year after the onset of RE. The objective of this study was to evaluate this therapy at long term. We reviewed 11 patients (7 girls and 4 boys) with RE of the right hemisphere (7) and the left (4) at a follow-up of 9±2 years. Age at onset of RE ranged from 2 to 14 years. Six patients had no benefit from steroid therapy and underwent hemispherotomy. Five had significant reduction of seizure frequency with disappearance of epilepsia partialis continua, and improved motor function. Of these, two died of unexpected sudden death 5 and 7 years after seizure control. Two others with initial response experienced progressive recurrence of seizures 1 to 4 years after the end of steroid therapy and required hemispherotomy. Finally, only one patient exhibited total cessation of seizures with steroids for 3 years, but seizures progressively recurred although the frequency was moderate. Our data confirm that although steroid treatment can be useful when given early in the course of RE, long term relapse can occur among the good responders requiring delayed hemispheric disconnection. [Copyright &y& Elsevier]

To evaluate the evolution of interhemispheric coherences (ICo) in background and spindle frequency bands during childhood and use it to identify individuals with corpus callosum dysgenesis (CCd). A monocentric cohort of children aged from 0.25 to 15 years old, consisting of 13 children with CCd and 164 without, was analyzed. The ICo of background activity (ICO BckgrdA), sleep spindles (ICO spindles), and their sum (s ICO) were calculated. The impact of age, gender, and CC status on the ICo was evaluated, and the s ICO was used to discriminate children with or without CCd. ICO BckgrdA , ICO spindles and sICO increased significantly with age without any effect of gender (p < 10−4), in both groups. The regression equations of the different ICo were stronger, with adjusted R2 values of 0.54, 0.35, and 0.57, respectively. The ICo was lower in children with CCd compared to those without CCd (p < 10−4 for all comparisons). The area under the precision recall curves for predicting CCd using s ICO was 0.992 with 98.9 % sensitivity and 87.5 % specificity. ICo of spindles and background activity evolve in parallel to brain maturation and depends on the integrity of the corpus callosum. sICO could be an effective diagnostic biomarker for screening children with interhemispheric dysfunction. [ABSTRACT FROM AUTHOR]

The purpose of this study was to describe and compare the initial management, including clinical/biological investigation and treatment, of new-onset seizures and status epilepticus (SE) in children versus seizures and SE in those with known epilepsy. This was a retrospective, single-center, observational study conducted in an urban pediatric hospital in Paris. All patients, aged from 1 month to 18 years, admitted to the pediatric intensive care unit, the high-dependency care unit, and those who required hospitalization in the short-term unit of the emergency department between January 1 and December 31, 2014 for seizures and/or SE were included. We analyzed the data of 190 children: new-onset seizures (N = 118; group A) versus those with known epilepsy (N = 72; group B). At least one diagnostic test was performed on 156 patients (82.1%) (group A, N = 104, 88.1%; group B, N = 52, 72.2%; P = 0.05). In group B, blood levels of antiepileptic drugs were measured in 14 of the 38 patients with SE, of whom six were under dosed. Treatments were: first line, diazepam (group A, 80%; group B, 46%; P < 0.001); second line, diazepam (group A, 56%; group B, 34%; P = 0.02) or clonazepam (group A, 24%; group B, 46%; P = 0.001); third line, phenytoin (group A, 54%; group B, 22%; P < 0.001) or clonazepam (group A, 18%; group B, 61%; P < 0.001). Diagnostic evaluation and treatment should be individualized for children with known epilepsy. [ABSTRACT FROM AUTHOR]

Objective Patients with Dravet syndrome develop a progressive slowing of acquisition from the age of 2 years. Cognitive delay is generally reported after four years of age, without progressive regression. Some variability has been reported and the slowing of acquisitions with development of intellectual disability may occur later up to the fourth year (Buoni et al. 2006; Nabbout et al. 2013; Guzzetta 2011). Methods We report four patients (2 males and 2 females) who preserved a normal or subnormal cognitive level at six years. They were all positive for SCN1A mutation, with mutation de novo in 3/4. Subtypes: one missense, one splicing, one frameshift and one nonsense. They were followed up until a median age of 11 years and 9 months (8 yars 11 months to 13 years 5 months). Only one patient was seizure free from more than one year at the last follow-up. In the others, the frequency of seizures was variable, from yearly to monthly seizures. All received the tritherapy (VPA+STP+CLB) except one. They had longitudinal neuropsychological testing through standardised psychometric tools. The minimum age at last evaluation was 8 years and 11 months. Results At 6 years they all presented an IQ >70 (respectively 95, 82, 78, 96). Two of them have presented a clear decrease in their neuropsychological scores (< 70) after 6 years. Two, at around 13 years, still presented a normal IQ and, one of them presented an increase of her scores, probably in link with the behavioural improvement and the achievement of seizure control. Conclusion The stagnation of acquisitions and the cognitive delay in Dravet Syndrome can occur later than what is classically reported in literature, thus implying a different approach in the communication of the prognostic of the cognitive evolution. [ABSTRACT FROM AUTHOR]

Objective The recent discovery of the involvement of PCDH-19 gene in epilepsy in female with intellectual deficit and its cognitive consequences opened the research field in this area. Seizure types and EEG aspects are reported in a few series. However, neuropsychological and behavioural studies are not detailed. We aimed to better explore those aspects. Methods We assessed the intellectual, language, executive and emotional aspects with standardized psychometric tools in patients with PCDH-19. In addition, we proposed a detailed psychiatric evaluation and parental questionnaires. Results We included seven patients aged from 6 to 17 years. The analysis of cognitive profiles reveals scores ranging from 35 to 84 IQ points with a mental retardation in 6/7. Based on estimated ages, language and theory of mind are low for age. Those cognitive disabilities are associated with autism in 3/7 and non specified autism spectrum disorders in 3/7. One patient present an untypical profile with no MR or autistic features. Conclusion This study shows the negative impact of PCDH-19 mutation on cognitive behavioural and psychiatric development in addition to the burden of seizures. A specific follow-up and rehabilitation focusing on these aspects is recommanded. [ABSTRACT FROM AUTHOR]

Objective Since the first use of bromide as an anti epileptic drug (AED) and the introduction of the third generation AEDs in the early 90s, a continuous effort is provided to develop efficient and easy to administer AEDs. Despite this continuous progress, many AEDs are for adults and the galenic forms is often not adapted for a use in the pediatric population. Methods We collected all prescriptions done in a tertiary centre (Centre de reference des epilepsies rares, Necker Enfants Malades Hospital) in 2012. We analysed the demographic datas, seizure type, and the epileptic syndrome in correlation with unlicensed usage, off label usage and manipulation of AEDs done by the parents. Datas were statistically analyzed on SPSS. Results We report use of unlicensed AED in 26%, in accordance with litterature data. The off label use was important, concerning 50% of the prescribed medications. It was mainly in young children (0 to 6 years) and in epileptic encephalopathies like Dravet syndrome. Conclusion This study highlights the need for the development of galenic form of AEDs adapted to children in order to minimize the risk of error in dosage and administration of these drugs. [ABSTRACT FROM AUTHOR]

Families of patients with Dravet syndrome (DS) experience substantial financial and humanistic burdens, driven by seizures and poor neurodevelopmental outcomes. An NNT=2 to achieve clinically meaningful outcomes may have important positive health economic implications for both payers and patients/caregivers vs currently available treatment options. [Extracted from the article]

We aimed to describe epilepsy and EEG patterns related to vigilance states and age, in chromosome15-long-arm-duplication-syndrome (dup15q) children with epilepsy, in both duplication types: interstitial (intdup15) and isodicentric (idic15). Methods: Clinical data and 70 EEGs of 12 patients (5 intdup15, 7 idic15), followed from 4.5m.oto 17y4m (median follow-up 8y3m), were retrospectively reviewed. EEGs were analyzed visually and using power spectrum analysis. Results: Seventy video-EEGs were analyzed (1-16 per patient, median 6), follow-up lasting up to 8y10m (median 4y2m): 25 EEGs in intdup15(8m.o to 12y.o, median 4y6m) and 45 EEGs in idic15 (7m.o to 12 y.o, median 15m).Epilepsy: 6 Westsyndrome (WS) (2intdup15, 4idic15);4 Lennox-Gastaut syndromes (LGS) (1 intdup15, 3 idic15), 2 evolving from WS; focal epilepsy (3 intdup15). In idic15, WS displayed additional myoclonic seizures (3), atypical (4) or no hypsarrhythmia (2) and posterior predominant spike and polyspike bursts (4). Beta-bandrapid-rhythms (RR):present in 11 patients, power decreased during non-REM-sleep, localization shifted from diffuse to anterior, peak frequency increased with age. Conclusion: WS with peculiar electro-clinical features and LGS, along with beta-band RR decreasing in non-REM-sleep and shifting from diffuse to anterior localization with age are recognizable features pointing towards dup15q diagnosis in children with autism spectrum disorder and developmental delay. This study describes electroclinical features in both interstitial and isodicentric duplications of chromosome 15q, in epileptic children, including some recent extensions regarding sleep features; and illustrates how the temporo-spatial organization of beta oscillations can be of significant help in directing towards dup15q diagnosis hypothesis. [ABSTRACT FROM AUTHOR]

Abstract: Metabolic disorders constitute an important cause of neurologic disease, including neonatal epilepsy. Epilepsy rarely dominates the clinical presentation, which is more frequently associated with other neurologic symptoms, such as hypotonia and/or vigilance disturbances. In most cases, epilepsy secondary to inherited metabolic disorders presents with polymorphic clinical and electrographic features that are difficult to classify into precise epileptic syndromes. However, specific types of seizures, such as myoclonic seizures or distinctive electroencephalographic patterns, such as suppression burst patterns, epileptic syndrome or early myoclonic encephalopathy, may suggest a specific metabolic disease. The aim of this article is to help clinicians in reviewing potential metabolic diagnoses and approaching metabolic evaluations. [Copyright &y& Elsevier]

Abstract: STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, has been reported in Ohtahara syndrome, a rare epileptic encephalopathy with suppression burst pattern on EEG, in patients with infantile spasms and in a few patients with nonsyndromic mental retardation without epilepsy. We report a patient who presented late onset infantile spasms. Epilepsy was controlled but the patient developed severe mental delay. A first diagnosis of mitochondrial disease was based on clinical presentation and on a partial deficit of respiratory chain complex IV, but molecular screening for mitochondrial genes was negative. The sequencing of STXBP1 gene found a de novo nonsense mutation (c.585C>G/p.Tyr195X). This observation widens the clinical spectrum linked to STXBP1 mutations with the description of a patient with late onset infantile spasms. It raises the question of the value of epilepsy genes screening in patients with uncertain, partial or unconfirmed mitochondrial dysfunction. [Copyright &y& Elsevier]