Browsing by Subject "epilepsy"

Antiepileptic drugs (AED) are vital for treating epilepsy, but their use in pregnancy carries significant risks. Prenatal exposure to some AEDs like valproic acid increases the risk of teratogenicity and deficits in cognitive development in children. The impact of AEDs at different ages has been studied but their effect on the trajectory of cognitive development remains unknown. This study assessed the cognitive performance of children with prenatal AED exposure and unexposed controls using Bayley scales of infant and toddler development III (BSID-III) at 2 years and Weschler intelligence scales for children (WISC-IV) at 6 years of age. The association between 2- and 6-year outcomes was analyzed with separate ANCOVA models for each WISC-IV subscale. BSID-III subscales were used as the covariates and the models were adjusted for confounding factors. BSID-III scores in cognitive (B=6.70, p=0.01) and language (B=6.92, p=0.008) subscales were significantly associated with the WISC-IV working memory scores in controls but not in the exposed group. The groups were also found to differ in their intercorrelations between BSID-III subscale scores. Scores at 2 years were not associated with later results in exposed children as they were in controls. This may suggest that the cognitive development trajectory of AED-exposed children differs from that of unexposed controls, possibly following an alternate projection. Developmental trajectories should be considered when investigating the cognitive effects of prenatal AED exposure. The finding of lacking correlations of BSID-III subscales also raises cause for future investigation of the structure of cognition in AED exposed children.

Catastrophic childhood epilepsies are characterized by persistent seizures and are frequently associated with cognitive and developmental impairments. Many, approximately 30%, of these epilepsies are rare genetic disorders that do not have effective therapeutic options. The bench to drug process is lengthy and expensive, and thus it is critical to find more affordable drug screening options. Zebrafish are an ideal model organism for screening studies as they share considerable (70%) genetic similarities with humans and are cheap to maintain with efficient breeding capabilities. In the present study, 37 zebrafish lines were screened for epileptic brain activity to identify high priority genes for future pharmacology studies. Each zebrafish line, generated by CRISPR-Cas9 represents a single gene loss of function mutation associated with 3 epilepsy based on genome wide association studies. Larval zebrafish were screened for spontaneous seizure activity using electrophysiological assays. The following 8 genes were significantly associated with spontaneous seizure activity in zebrafish: EEF1A, ARX, GRIN1, GABRB3, PNPO, STRADA, SCN1A, and STXBP1. There is now an open-source database for all 37 zebrafish lines, which contains sequencing information, survival curves, behavioral profiles, and electrophysiological data. The findings reveal novel target genes for future drug development and discovery. Future work is needed to explore whether zebrafish also model co-morbidities commonly seen in human patients with epilepsy.

Goals: The purpose of the study was to describe and analyse the content of online discussions and shared experiences among parents of children who suffer from epilepsy as well as parents' experiences with online peer support and its development. The goal was to deepen understanding of online peer support and the experiences of parents, and to develop the online activities of the Finnish Epilepsy Foundation based on the information gained. Previous studies about peer support have included group manifestations, personal experiences and peer support in community discussions. More and more peer support is available online, which has been seen in peer support studies from 2000 2009. Online peer support has been reported as both supporting and hindering empowering experiences. Previous studies have highlighted the significance of personal experiences. In this study, the concept of "experience" is defined from the standpoint of Dewey. Peer support is approached in the framework of empowerment. The study addresses four research questions. 1) What do parents of children with epilepsy write in online discussions? 2) What kind of experiences do they share in it? 3) What kind of experiences have parents had with online peer support, and which experiences further parents' empowerment? 4) How should online discussions be developed among parents? Methods: Study data was drawn from online discussions written by parents of children with epilepsy (the first message posted and the following message chain) and interviews with six (N = 6) parents who agreed to theme interviews. Web materials were written 15 June 13 December 2012. Data from theme interviews were gathered in February 2013 by interviewing parents by phone or in person. Web postings and interview content were handled using abductive content analysis, such that high rankings in the analysis utilised concepts of Siitonen's empowerment model (1999). Results and conclusions: The Internet offered parents of ill children an opportunity to share their experiences with other parents in similar life situations. In online discussions, parents shared their experiences about their children becoming ill, epilepsy treatments, support they had experienced as well as their emotions and mental images of the future. The significance of experiential data was highlighted in what parents wrote. Parents experienced the discussion environment as friendly, open, matter-of-fact and empathetic. From the standpoint of empowerment, it was significant that parents had the strength to support one another even in very difficult everyday life situations. The significance of experiences was affected by the environment of the online discussion, its content, parents' pre-conceived expectations as well as sharing emotional experiences and mental images of the future. Factors in the development of online discussions were related to briefing of the service, improved availability as well as active facilitation.

Electroencephalography (EEG) is a non-invasive neurophysiological method for evaluating brain activity by measuring electrical potential at the scalp. The electrical potentials originate mainly from postsynaptic cortical currents created by neuronal activity. It is a valuable tool for both research and clinical practice. EEG can be used e.g. to diagnose epilepsy, focal brain disorders, brain death, and coma. Intermittent photic stimulation (IPS) is an important tool in clinical EEG. Healthcare professionals use it to induce epileptic activity in patients to help diagnose their conditions. In these tests, various IPS frequencies are used with eyes-closed, eyes-open, and eye-closure conditions. IPS test is listed in clinical practice guidelines in EEG globally, and it is mainly used to diagnose photosensitive epilepsy, i.e., to detect epilepsy-related abnormal sensitivity to flickering light. Magnetoencephalography (MEG) is a non-invasive neurophysiological method in which minute magnetic fields — produced by the same postsynaptic currents as in EEG — are measured with special superconductive sensors around the head. MEG is a valuable tool for research and clinical practice with increasing world-wide utilization. The main advantages of MEG over EEG are easier source modelling and higher resolution at cortical areas. IPS has not been introduced to MEG since the IPS stimulators used in EEG are not compatible with MEG. IPS in MEG could improve the analysis of IPS and provide better tools for diagnoses. Currently, data analysis of IPS is typically limited to healthcare professionals examining the visualization of the raw data while looking for induced epileptiform activites and lateralizing them. In this thesis, an MEG-compatible IPS stimulator is introduced and alternative ways of analyzing IPS data for both MEG and EEG are showcased. Although analysis methods were applied with decent signal-to-noise ratios, further research is needed—especially to compare responses between patients with epilepsy and healthy subjects.