Health-related quality of life (HRQOL) is a multidimensional construct, without general agreement on the number of domains and the content of each domain. In children with epilepsy, the HRQOL evaluation includes both nonspecific aspects, such as behavioral, psychological and cognitive difficulties and the impact of a chronic pediatric illness on the child and its family and specific aspects, such as the perception of the severity of the seizures and of the undesirable effects of the antiepileptic treatments, as well as the social impact of a negative attitude toward epilepsy. The present article presents a review of the methods proposed for the assessment of HRQOL in children with epilepsy. Most methods rely on parental reports; however, there is an increasing effort to develop tools taking the child's point of view into account. HRQOL tools have often been used in clinical trials and, especially, to evaluate the surgical treatments of epilepsy. For the clinician, HRQOL tools may be a preliminary approach to the patient's problems to be interpreted in relation to the patient's medical, psychological, cognitive, social and familial context. In France, few large-scale studies on HRQOL in children with epilepsy have been conducted. We present the preliminary results of a French study based on parental reports.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.arcped.2008.06.022 | DOI Listing |
Health Sci Rep
January 2025
Department of Research The Medical Research Circle (MedReC) Goma Democratic Republic of the Congo.
Background And Aim: Epilepsy is a major neurological challenge, especially for pediatric populations. It profoundly impacts both developmental progress and quality of life in affected children. With the advent of artificial intelligence (AI), there's a growing interest in leveraging its capabilities to improve the diagnosis and management of pediatric epilepsy.
View Article and Find Full Text PDFJ Hum Genet
January 2025
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in various tissues, including the brain. IRF2BPL encodes a transcription factor with two zinc-finger domains that potentially downregulate WNT signaling in the nervous system. Pathogenic IRF2BPL variants have been reported to cause developmental delay, seizures, myoclonus epilepsies, autistic spectrum disorder, and other neurodevelopmental disorders.
View Article and Find Full Text PDFEur J Med Genet
January 2025
APHM, Timone Enfant, Service de pédiatrie multidisciplinaire, Marseille France; Aix Marseille Univ, INSERM, MMG, Marseille France.
Pathogenic variants in VPS53 are associated with pontocerebellar hypoplasia type 2E (PCH2E), characterized by microcephaly, severe neurodevelopmental impairment and epilepsy. We present a case of a female neonate with VPS53 pathogenic variants exhibiting the classic phenotypic features along with liver disease and deafness, which had not been described in previously reported cases. Similarly, while liver abnormalities have been reported in patients with mutations in other genes coding for proteins of the GARP or EARP complex, of which VPS53 is a subunit, liver disease has not been described in PCH2E until now.
View Article and Find Full Text PDFSeizure
December 2024
Translational and Clinical Research Institute, Newcastle University, Newcastle, United Kingdom; Royal Victoria Infirmary, Newcastle Hospitals, NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom.
Purpose: Research into epilepsy has experienced decades of chronic underfunding compared to other neurological conditions despite its prevalence and seriousness. To evidence the need for greater investment, the Epilepsy Research Institute (formerly Epilepsy Research UK) funded, led and managed a James Lind Alliance (JLA) Priority Setting Partnership (PSP). This "industry standard" methodology brings together healthcare professionals, patients, carers and patient group representatives to identify and prioritise research uncertainties within a defined area of health or care.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!