Children and adolescents with epilepsy in rehabilitation centers: A French prospective transversal study

Publication date: March 2020Source: Epilepsy &Behavior, Volume 104, Part AAuthor(s): Delphine Coste-Zeitoun, Mathieu Kuchenbuch, Daniela Pennaroli, Clémence Castaignède, Sylvia Napuri, Christine Satre, Jean-Luc Schaff, Sylvie Sukno, Marie Hélias, Nathalie de Grissac-Moriez, Georges Delattolas, Dominique Olive, Christine Bulteau, Guy Zeitoun, Anna KaminskaAbstractIntroductionThe reason why some children and adolescent with epilepsy (CAWE) still challenge the “inclusive” educative policy needs to be explored.Methods/patientsWe conducted a transversal study in French medical, social, and educative rehab centers (MSERCs) dedicated to CAWE to describe the profile of 263 centers-involved (CI)-CAWE. Centers-involved CAWE were prospectively followed from September 2012 to August 2013. Medical, social, and educative rehab centers were dichotomized according to their care-provider agreement (i.e., CAWE of “moderate” (M) vs. “severe” (S) conditions).Clinical factors known to impact clinical outcome and quality of life (QoL) in epilepsy and four disabling conditions at risk to impact school life (i.e., cognitive and psychiatric/behavioral disorders, risk of physical hazards (i.e., refractory seizures with unpredictable loss of tone and/or awareness), and one or more seizure/week) were evaluated. The electronic chart of the French collaborative database (namely GRENAT) was used for data collection allowing comparison with the pr...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research

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ConclusionsResults of this project documented an increase in knowledge of epilepsy, a better knowledge on management of acute seizures in the school settings, a reduction in anxiety, and an increase in willingness to administer rescue medications. Further studies should be planned in order to document the changes in the real-world management of seizures, to evaluate if a reduction in hospital admittances might be reached, and to extend the project by assessing, through a questionnaire, the stigma and prejudices against the children affected by epilepsy by their classmates.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
AbstractThe SynGAP protein is a major regulator of synapse biology and neural circuit function. Genetic variants linked to epilepsy and intellectual disability disrupt synaptic function and neural excitability. SynGAP has been involved in multiple signaling pathways and can regulate small GTPases with very different functions. Yet, the molecular bases behind this pleiotropy are poorly understood. We hypothesize that different SynGAP isoforms will mediate different sets of functions and that deciphering their spatio ‐temporal expression and subcellular localization will accelerate understanding their multiple functions. U...
Source: Journal of Neurochemistry - Category: Neuroscience Authors: Tags: ORIGINAL ARTICLE Source Type: research
AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by epilepsy, intellectual disability, and benign tumors of the brain, heart, skin, and kidney. Animal models have contributed to our understanding of normal and abnormal human brain development, but the construction of models that accurately recapitulate a human pathology remains challenging. Recent advances in stem cell biology with the derivation of human-induced pluripotent stem cells (hiPSCs) from somatic cells from patients have opened new avenues to the study of TSC. This approach combined with gene-editing tools such as CRISPR/C...
Source: Molecular Autism - Category: Molecular Biology Source Type: research
Epilepsy prevalence is approximately 0.6 - 1.0% across the worldwide general population [1]. It is much higher in the intellectual disability (ID) population, where around 22% have epilepsy [2]. It is also estimated that as many as one in four people with epilepsy (PWE) have an ID [3]. Whilst seizure control for all PWE is initially managed by licensed Anti-Epileptic Drugs (AEDs), those with ID are excluded from pre-market systemic trials [4]. Rates of treatment resistance are significantly higher in ID populations than general [5].
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research
Some epileptic spasms are classified into focal-onset seizures. However, the cortical network underlying this kind of spasm seizure is not yet clear. Four patients with epileptic spasms who underwent intracranial electrode implantation and focal resection surgery were studied. All the patients had good outcomes, and three of them with intellectual disability showed improved intelligence after surgery. The power spectra characteristics of electrocorticography and the dynamic functional network changes of epileptic spasms were investigated. Electrocorticography power in the resected zone peaked 0.5 seconds before the clinica...
Source: NeuroReport - Category: Neurology Tags: Integrative Systems Source Type: research
In Reply We thank Singh et al for their comments on our article demonstrating the benefits of specialist neurology and comprehensive epilepsy care on mortality in patients with epilepsy. We agree that evidence-based care should be driven by data. In a global environment of accelerating health care costs, the same methods should be used to demonstrate value for money. However, it may be unsurprising that bespoke care improves outcomes; particularly pertinent for countries offering universal health coverage, the unequivocal demonstration of benefit is an indispensable prerequisite for advocates of the judicious use of finite...
Source: JAMA Neurology - Category: Neurology Source Type: research
This study highlights the potential genotype–phenotype relationship in EEF1A2 and facilitates the evaluation of the pathogenicity of EEF1A2 mutations in clinical practice.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
This report illustrates that a spectrum of disorders with distinct clinical symptoms may result from mutations in different parts ofKCNJ10, a gene initially associated only with the EAST/SeSAME syndrome.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
This study highlights the potential genotype-phenotype relationship in EEF1A2 and facilitates the evaluation of the pathogenicity of EEF1A2 mutations in clinical practice. PMID: 32062104 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
ConclusionsThis study confirms that individuals with PMS are at risk of developing severe neuropsychiatric illness in adolescence or early adulthood, including bipolar disorder, catatonia, and lasting regression of skills. These findings should increase the awareness of these phenotypes and lead to earlier diagnosis and the implementation of appropriate interventions. Our findings also highlight the importance of genetic testing in the work-up of individuals with intellectual disability and acute psychiatric illness or regression. Future research is needed to clarify the prevalence and nature of psychiatric disorders and r...
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
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