Many children with epilepsy experience it as part of a broader disability. The cause is often a developmental, genetic, or early acquired abnormality associated with learning difficulties and impairments in other systems. In addition, it has become increasingly recognized in recent years that even children with so-called idiopathic generalized epilepsies may have specific language or cognitive impairments. The combination of seizures and these factors can form a significant barrier to the child and family in social and emotional terms as well. A child's brain must mature and learn new skills; and a large proportion of childhood epilepsies directly impact on this. The degree of control of the epilepsy can affect cognitive progress; but for many children the underlying cause of the impairment is the significant factor. For all children, access to appropriate clinical, educational, and social services for assessment and therapy is paramount. Specific initiatives in the North West of the United Kingdom are attempting to address service and organizational issues. Current research projects are investigating the impairments children with epilepsy have in addition to having seizures.
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http://dx.doi.org/10.1016/j.yebeh.2009.03.018 | DOI Listing |
Epilepsia
January 2025
Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
We propose and prioritize important outcome domains that should be considered for future research investigating long-term outcomes (LTO) after new onset refractory status epilepticus (NORSE). The study was led by the international NORSE Institute LTO Working Group. First, literature describing the LTO of NORSE survivors was identified using a PubMed search and summarized to identify knowledge gaps.
View Article and Find Full Text PDFNeuropediatrics
February 2025
University Children's Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.
Am J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Rare Disease, University of Tübingen, Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE). Electronic address:
Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have been associated with autosomal recessive intellectual disability and epileptic encephalopathy. We identified bi-allelic KICS2 variants in eleven affected individuals presenting with intellectual disability and epilepsy.
View Article and Find Full Text PDFEpilepsy Behav
January 2025
Objective: Epilepsy-related stigma negatively affects the lives of children and adolescents. This study aims to explore the experience of stigma among children and adolescents with epilepsy in China.
Methods: This study used purposive sampling to select children and adolescents aged 10-18 diagnosed with epilepsy.
Objective: The neuropsychological adverse effects of antiseizure medications (ASMs) influence the tolerability, and in turn effectiveness of these medications, which can occur in a dose-dependent fashion. In this study, we examine the neuropsychological effects of perampanel (PER) at 4 mg daily as this dose has not been previously assessed with objective cognitive tests.
Methods: The study was originally designed to assess (1) effects of perampanel at 4 mg using different titration rates, and (2) habituation over time.
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