Health-related quality of life and the burden of prolonged seizures in noninstitutionalized children with epilepsy

This study aimed to provide information on the burden of illness and health-related quality of life (HRQoL) in children with epilepsy who experience prolonged acute convulsive seizures (PACS) in the community setting, and to investigate factors that may predict poor HRQoL in this population.MethodsNoninstitutionalized children (aged 3–16 years) who had experienced at least one PACS within the past year and had currently prescribed PACS rescue medication were enrolled in a cross-sectional study in Germany, Italy, Spain, and the United Kingdom (Practices in Emergency and Rescue medication For Epilepsy managed with Community-administered Therapy 3 [PERFECT-3]). Clinicians, parents/guardians, and patients completed web-based questionnaires regarding clinical characteristics, PACS frequency, and day-to-day impairment. Patients' HRQoL was rated by clinicians, parents/guardians, and patients themselves using the 5-dimension EuroQol questionnaire (EQ-5D) and summarized as a utility score. Potential predictors of poor HRQoL were tested in individual univariate generalized linear models and a global multivariable model.ResultsEnrolled children (N = 286) had experienced 1–400 PACS (median: 4) in the past year. Clinicians reported that 216/281 patients (76.9%) had learning disabilities of varying severity. Mean EQ-5D utility scores rated by clinicians (n = 279), parents (n = 277), and patients (n = 85) were 0.52 (standard deviation: 0.41), 0.51 (0.39), and 0...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research

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Publication date: Available online 9 December 2019Source: Social Science &MedicineAuthor(s): Maddalena Canna, Rebecca SeligmanAbstractFunctional Neurological Disorder (FND), otherwise known as Conversion Disorder, is characterized by abnormal sensory or motor symptoms that are determined to be “incompatible” with neurological disease. FND patients are a challenge for contemporary medicine. They experience high levels of distress, disability, and social isolation, yet a large proportion of those treated do not get better. Patients with FNDs are often misdiagnosed and suffer from stigma, dysfunctional medical...
Source: Social Science and Medicine - Category: Psychiatry & Psychology Source Type: research
Infantile spasms (IS) represent a severe seizure disorder of infancy and early childhood characterized by epileptic spasms along with hypsarrhythmia often accompanied by intellectual disability. According to the current classification and terminology (3) IS can be categorized as known etiology, formerly known as “symptomatic”, when an underlying cause has been observed prior to the onset of spasms, or of “unknown cause” with “unfavorable” and “favorable” outcome (previously referred as “cryptogenic” or “idiopathic”, respectively).
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Tags: Short communication Source Type: research
Authors: Khakwani A, Gannon D Abstract A 44-year-old female, with a background of cerebral palsy, epilepsy and learning disabilities, presented with multiple seizures and a persistently reduced consciousness level secondary to valproate-induced hyperammonaemic encephalopathy (plasma levels>50 µg/dl). Withdrawal of valproate and subsequent infusion of L-carnitine led to full recovery. Nonhepatic hyperammonaemia has been shown to be effectively treated by intravenous L-carnitine therapy by a series of case reports. To date, no randomised controlled trials have demonstrated this. Hyperammonaemic encephalopath...
Source: Journal of the Royal College of Physicians of Edinburgh - Category: General Medicine Tags: J R Coll Physicians Edinb Source Type: research
Authors: Watkins L, O'Dwyer M, Kerr M, Scheepers M, Courtenay K, Shankar R Abstract Introduction: This clinical guidance looks at the specific concerns of delivery of medical treatment for people with epilepsy and intellectual disability (ID). People with ID have not been included in licensing drug trials of AEDs. However, this population has an over-representation of seizure comorbidity, treatment resistance, and polypharmacy while also being vulnerable to not having their views considered.Areas covered: This review summarizes the current most robust evidence available for the use of licensed AEDs in people with e...
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
ConclusionSeveral hypotheses have been advanced on the specific role thatPRRT2 gene mutations play to cause the clinical features of affected patients. To our knowledge, the severe phenotype seen in this case has never been reported in association with any clinically actionable variant, as the missense substitution detected inPRRT2 gene. Intriguingly, the same mutation was reported in the healthy father: the action of modifying factors in the affected child may be hypothesized. The report of similar observations could extend the spectrum of clinical manifestations linked to this mutation.
Source: Italian Journal of Pediatrics - Category: Pediatrics Source Type: research
In this study, we performed an extensive assessment of the value of CMA for the diagnosis of children with ID/DD in China. Methods: A total of 633 patients diagnosed with DD/ID in West China Second University Hospital, Sichuan University, were recruited from January 2014 to March 2019. The patients were classified into 4 subgroups: isolated DD/ID, DD/ID with multiple congenital anomalies (MCA), isolated autism spectrum disorders (ASDs), and DD/ID with epilepsy. CMA was performed on Affymetrix 750K platform. Results: Among the 633 patients, 127 cases were identified as having pathogenic copy number variations (pCN...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
ConclusionFirst attendance at a psychiatry appointment after a neurologist had given a diagnosis of dissociative seizures was not associated with any hypothesised predictors, including patient confidence in the diagnosis. Neurologists should put aside any expectations about these variables when referring to and anticipating attendance with a psychiatrist.Graphical abstract
Source: Seizure - Category: Neurology Source Type: research
Genetics in Medicine, Published online: 28 November 2019; doi:10.1038/s41436-019-0703-yDe novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
The insular cortex has been linked to a multitude of functions. In contrast, the nearby claustrum is a densely connected subcortical region with unclear function. To view the insula-claustrum region from the molecular perspective we analyzed the transcriptomic profile of these areas in six adult and four fetal human brains. We identified marker genes with specific expression and performed transcriptome-wide tests for enrichment of biological processes, molecular functions, and cellular components. In addition, specific insular and claustral expression of genes pertaining to diseases, addiction, and depression was tested. A...
Source: Frontiers in Neuroanatomy - Category: Neurology Source Type: research
Abstract West syndrome is an epilepsy syndrome characterized by repetitive epileptic spasms (ES) and hypsarrhythmia, typically leading to developmental delay/intellectual disability (DD/ID). It is considered a classic epileptic encephalopathy (EE). We designed a diagnostic sequencing panel targeting 131 genes associated with epilepsy and/or EE and screened a cohort of 45 individuals with clinical diagnosis of West syndrome. We identified disease-causing single nucleotide variants in 11 out of 45 individuals affecting genes commonly associated with West syndrome (such as CDKL5, ARX) but also in genes predominantly ...
Source: European Journal of Paediatric Neurology - Category: Neurology Authors: Tags: Eur J Paediatr Neurol Source Type: research
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