The perceived impact of COVID-19 and associated restrictions on young people with epilepsy in the UK: Young people and caregiver survey.

PURPOSE: To garner the views of young people with epilepsy and caregivers regarding the impact of COVID-19 and subsequent restrictions in the UK. MEHODS: An online survey was used to explore the views of young people with epilepsy (n = 71) and caregivers (n = 130) in June 2020. It included questions on the impact of the pandemic and associated restrictions on the child's epilepsy and on child and parental wellbeing. RESULTS: One in three young people and 29 % of caregivers reported that the young person's seizures had increased during the pandemic (only 10 % of young people and 8% of caregivers reported a decrease). Half of young people reported that they were more reluctant to go to hospital. Thirty-one percent of young people and 20 % of parents reported difficulties getting epilepsy medication whilst a significant minority of young people (18 %) and caregivers (25 %) reported that the young person had investigations/assessments cancelled by their hospital. The majority of young people reported their sleep (72 %), mood (64 %) and levels of physical activity (53 %) had deteriorated. Caregivers experienced increases in stress (55 %) and anxiety (52 %). Epilepsy nurses were seen as the most helpful support CONCLUSIONS: Results indicate that the pandemic and associated restrictions have had a negative impact on young people with epilepsy. Perceived increases in seizures, reluctance to go to hospital and cancelled investigations are likely to impact on epilepsy management. The wider psychosocial impact is also likely to be significant with increases in child and caregiver mental health problems in an already vulnerable group

Epilepsy in schools: Views on educational and therapeutic provision, understanding of epilepsy and seizure management

OBJECTIVE: To gain an understanding of the views of young people with epilepsy, their parents and school staff regarding educational and therapeutic provision, understanding of epilepsy and seizure management in schools. METHODS: School-aged children (n = 20) with 'active epilepsy' (taking Anti-Seizure Medications (ASMs) for epilepsy), their parents (n = 68), and school staff (n = 56) were interviewed or completed bespoke questionnaires. In addition, all participating children underwent psychological assessment including measures of behavior and cognition. RESULTS: Only 15% of participating children had received psychological support despite 60% scoring within the at-risk range on a measure of behavioral and emotional difficulties. More than half of the responding children reported that some of their teachers and friends did not know that they had epilepsy. A significant minority of parents (32%) did not feel that the child's transition from preschool to primary, or primary to secondary school was managed well. Knowledge of the child's epilepsy was felt to be significantly better in special schools than mainstream schools according to both parents and school staff. Staff in special schools perceived they were more knowledgeable about the child's ASMs and changes to ASMs than staff in mainstream schools. Staff in special schools were significantly more likely to have received training on general aspects of epilepsy, seizure management, and impacts on learning and/or behavior. Parental interviews indicated difficulties accessing educational and therapeutic supports. Parents often felt that they had to drive the process to gain supports themselves. They also reported limited professional support, and inadequate communication between themselves and the school and school staff and medical/therapeutic professionals regarding their child's needs. Parents would like more school staff to recognize the impacts of epilepsy on learning and behavior and to support their child more holistically. Many parents wanted more resources for assessment and therapeutic provision in relation to their child's learning, behavior, and emotions. CONCLUSION: Knowledge of epilepsy is felt by parents and staff to be significantly better in special schools compared with mainstream schools. Parents highlighted the need for increased knowledge of the impacts of epilepsy on learning and behavior and perceived a need for more resources for assessment of these difficulties

A diagnostic conundrum

A 26-year-old man was referred with facial weakness, dysarthria, dysphagia, ophthalmoparesis and severely weak and wasted legs. His symptoms had begun when aged 20 with electric shock pains and paraesthesia in both feet progressing over 6 months to the lower calves. He then developed buttock numbness and occasional faecal incontinence. By age 22, he had diffuse lower limb weakness and wasting, with difficulty standing from a seated position and frequent tripping. He became wheelchair-dependent within 3 years

Chronic Beryllium Disease and Sensitization at a Beryllium Processing Facility

We conducted a medical screening for beryllium disease of 577 former workers from a beryllium processing facility. The screening included a medical and work history questionnaire, a chest radiograph, and blood lymphocyte proliferation testing for beryllium. A task exposure and a job exposure matrix were constructed to examine the association between exposure to beryllium and the development of beryllium disease. More than 90% of the cohort completed the questionnaire, and 74% completed the blood and radiograph component of the screening. Forty-four (7.6%) individuals had definite or probable chronic beryllium disease (CBD), and another 40 (7.0%) were sensitized to beryllium. The prevalence of CBD and sensitization in our cohort was greater than the prevalence reported in studies of other beryllium-exposed cohorts. Various exposure measures evaluated included duration; first decade worked; last decade worked; cumulative, mean, and highest job; and highest task exposure to beryllium (to both soluble and nonsoluble forms). Soluble cumulative and mean exposure levels were lower in individuals with CBD. Sensitized individuals had shorter duration of exposure, began work later, last worked longer ago, and had lower cumulative and peak exposures and lower nonsoluble cumulative and mean exposures. A possible explanation for the exposure–response findings of our study may be an interaction between genetic predisposition and a decreased permanence of soluble beryllium in the body. Both CBD and sensitization occurred in former workers whose mean daily working lifetime average exposures were lower than the current allowable Occupational Safety and Health Administration workplace air level of 2 μg/m(3) and the Department of Energy guideline of 0.2 μg/m(3)

Child and parental sleep in young children with epilepsy: A population-based case-control study

Objective: To determine the prevalence of parent-reported sleep problems in young children with epilepsy and their parents, and to compare findings with those in a non-epilepsy-related neurodisability (neurodevelopmental/neurological difficulties) group. Method: Parents of young children (1-7 years) with epilepsy (n = 48 [91% ascertainment]) completed the Child Sleep Habits Questionnaire (CSHQ). Parents (mothers and fathers) also completed the Pittsburgh Sleep Quality Index (PSQI) and the Iowa Fatigue Scale (IFS) in relation to their own functioning. The responses of parents of children with epilepsy were compared with parents of developmental-, age-, and gender-matched children with nonepilepsy-related neurodisability (n = 48). Results: There was not a significant difference in the proportion of children with epilepsy and the children with neurodisability scoring in the at-risk range on the CSHQ (81% vs. 71% respectively) (p = 0.232). 62% of mothers and 44% of fathers of children with epilepsy had 'poor quality sleep' on the PSQI; there was not a significant difference between mothers of children with epilepsy and those of children with neurodisability (p = 0.526) or IFS (p = 0.245) total scores. However, mothers of children with epilepsy had significantly more difficulties on the productivity subscale of the IFS (p = 0.004). There were no significant differences between fathers' scores on either measure. In the epilepsy group, child behavioral problems (p = 0.001) were independently associated with child sleep difficulties and maternal mental health problems were associated with parental sleep difficulties (p = 0.04) and fatigue (p = 0.018). Significance: Young children with epilepsy and their parents have a high rate of sleep difficulties. There is a need to develop effective interventions for this population, taking into consideration of the role of child behavioral problems and parental mental health difficulties

Standards for data acquisition and software‐based analysis of in vivo electroencephalography recordings from animals. A TASK1‐WG5 report of the AES/ILAE Translational Task Force of the ILAE

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/139127/1/epi13909.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/139127/2/epi13909_am.pd

The problem of obesity among adolescents in Hong Kong: a comparison using various diagnostic criteria

<p>Abstract</p> <p>Background</p> <p>Obesity is now a global epidemic. In this study, we aimed to assess the rates of obesity using several major diagnostic criteria in Chinese school adolescents in Hong Kong.</p> <p>Methods</p> <p>This is a cross-sectional study. Using a computer-generated coding system, we randomly selected schools from different geographical regions in Hong Kong to obtain a representative sample. Subjects aged 11–18 years of age were randomly selected from different class of the schools. Their rates of obesity according to four different international and local criteria were compared [International Obesity Task Force (IOTF) 2000 criterion; the Group of China Obesity Task Force (COTF) 2004 criterion; Centers for Disease Control and Prevention (CDC) 2000 Growth Charts and the Hong Kong Growth Survey (HKGS) charts in 1993].</p> <p>Results</p> <p>Of the 2098 adolescents [982 (46.8%) boys and 1116 (53.2%) girls], the mean age (± SD) was 15.1 ± 1.8 years (range: 11–18 years; median: 15.0 years). The crude rates of obesity were similar based on IOTF, COTF or CDC criteria (boys: 3.9–6.0%, girls: 1.8–3.7%), however, the rate increased to 11–27% if the HKGS charts were used. Obesity rate varied markedly according to age. It decreased from 8–10% among those aged 12–13 years to 2–4% among those aged 17–18 years.</p> <p>Conclusion</p> <p>The prevalence of obesity in Hong Kong adolescents using various diagnostic criteria were similar except for the 1993 HKGS criteria, which gave an exceeding high figure. Using the IOTF, COTF or CDC criteria, the adolescent obesity in Hong Kong varied from 1.8% to 6.0%.</p

Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque

Carotid intima media thickness (cIMT) and plaque determined by ultrasonography are established measures of subclinical atherosclerosis that each predicts future cardiovascular disease events. We conducted a meta-analysis of genome-wide association data in 31,211 participants of European ancestry from nine large studies in the setting of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. We then sought additional evidence to support our findings among 11,273 individuals using data from seven additional studies. In the combined meta-analysis, we identified three genomic regions associated with common carotid intima media thickness and two different regions associated with the presence of carotid plaque (P < 5 × 10 -8). The associated SNPs mapped in or near genes related to cellular signaling, lipid metabolism and blood pressure homeostasis, and two of the regions were associated with coronary artery disease (P < 0.006) in the Coronary Artery Disease Genome-Wide Replication and Meta-Analysis (CARDIoGRAM) consortium. Our findings may provide new insight into pathways leading to subclinical atherosclerosis and subsequent cardiovascular events

Quantitative assay for the detection of the V617F variant in the Janus kinase 2 (JAK2) gene using the Luminex xMAP technology

<p>Abstract</p> <p>Background</p> <p>The availability of clinically valid biomarkers contribute to improve the diagnosis and clinical management of diseases. A valine-to-phenylalanine substitution at position 617 (V617F) in the Janus kinase 2 (JAK2) gene has been recently associated with key signaling abnormalities in the transduction of haemopoietic growth-factor receptors and is now considered as a useful clinical marker of myeloproliferative neoplasms. Several methods have recently been reported to detect the JAK2 V617F point mutation and show variable sensitivity.</p> <p>Methods</p> <p>Using the Luminex xMAP technology, we developed a quantitative assay to detect the JAK2V617F variant. The method was based on polymerase chain reaction (PCR) followed by hybridization to specific probes coupled with internally dyed microspheres. The assay comprises 3 steps: genomic DNA extraction, end point PCR reaction, direct hybridization of PCR fragments and quantification. It has been tested with different sources of nucleic acid.</p> <p>Results</p> <p>Applied to whole blood samples, this quantitative assay showed a limit of detection of 2%. A highly sensitive allele-specific primer extension reaction performed in parallel allowed to validate the results and to identify the specimens with values below 2%.</p> <p>Conclusion</p> <p>Direct hybridization assay using the Luminex xMAP technology allows sensitive quantification of JAK2V617F from blood spots. It is simple and can be easily performed in a clinical setting.</p