Thesis advisor: Judith Vessey / The objective of this study was to describe the parental perspective of caring for a child with intractable epilepsy. The purpose of this study was twofold: (1) to describe the caregiver transitions from caring for a healthy child to caring for a child with intractable epilepsy, and (2) to study families that provide caregiving, to identify the challenges, and learn how they address the intricacies and nuances of caring for a child with intractable epilepsy. The specific research questions that guide this study were: (1) What do parents of children with epilepsy find helpful or challenging during transitions from caring for a healthy child to a child with intractable epilepsy? (3) What factors enable parents to transition from caring for a healthy child to a child with intractable epilepsy? The research design used qualitative descriptive design and was based on naturalistic inquiry. This methodology was used to describe parental experiences using their own words and not interpret these experiences. Research participants were recruited from a Level 4 National Association of Epilepsy Center at a Children's Hospital in the Northeast. A purposive sample of twelve parental caregivers participated. Themes that emerged from the interviews included (1) Journey to Diagnosis, Connecting the Dots, (2) Drunken Sailor, Medication Management, (3)Negotiating and Advocacy for Education (4) Provider Challenges, Communication and Parenting and (5) It Takes a Village: Sibling, Family Members and Friends. Nurses play a significant role in education, advocating, and guiding families through the initial diagnosis to dealing with activities of daily living and future planning. This research study serves as a foundation for future intervention studies regarding how best to support parents of children with intractable epilepsy. / Thesis (PhD) — Boston College, 2013. / Submitted to: Boston College. Connell School of Nursing. / Discipline: Nursing.

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Les dysplasies corticales focales de type 2 (DCF2) sont une cause fréquente d’épilepsie partielle pharmacorésistante pouvant bénéficier d’un traitement chirurgical. Leur détection en IRM est un facteur indépendant de bon pronostic. Leur diagnostic reste difficile avec jusqu’à 40% d’IRM négatives. Le travail de cette thèse a pour principal objectif d’améliorer la détection des DCF2 à partir des séquences conventionnelles, d’évaluer la pertinence d’une augmentation de champ magnétique, et de valider de nouveaux outils de détection, en particulier par l’identification d’anomalies des sillons associées aux DCF2 de manière automatique puis visuelles. Cette étude a été réalisée à partir d’une des plus importante cohorte de patients (>80 patients) porteurs de DCF2 prouvée histologiquement. L’évaluation de la fréquence de chacun des signes en IRM nous a permis de démontrer que, bien qu’aucune anomalie ne soit visible dans 41% des cas, les différents signes chez les patients avec une IRM positive n’étaient jamais isolés et que la combinaison des 3 signes les plus évocateurs de DCF2 (épaississement cortical, flou de l'interface blanc-gris et « transmantle sign »), était retrouvée chez 27 patients (64%) suggérant que l’IRM puisse être un examen très caractéristique. En augmentant le champ magnétique de 1,5 à 3T en IRM le taux de détection n’est que peu modifié mais la caractérisation des DCF2 est améliorée en raison d’une meilleure visualisation du « transmantle sign », considéré comme une signature en IRM des DCF2. L’analyse automatisée des sillons basés sur le calcul d’un nouveau paramètre appelé « énergie sulcale » permet d’identifier des motifs sulcaux anormaux chez les patients porteurs de DCF2 dans la région centrale en comparaison aux sujets sains. Ce résultat souligne l'importance d’une étude des sillons et pourrait fournir un critère supplémentaire pour détecter et localiser la lésion chez des patients à IRM négative. Enfin, l’analyse visuelle des sillons par un reformatage 3D du cortex nous a permis de décrire un nouveau marqueur des DCF2 de la région centrale : un motif sulcal dénommé le "Power Button Sign". Compte tenu de son excellente reproductibilité et de sa spécificité, il pourrait être utilisé comme un nouveau critère diagnostic majeur de DCF2 de la région centrale. L’ensemble de ces résultat participe à la meilleure compréhension des phénomènes développementaux impliqués dans la physiopathologie des DCF2 et offre de nombreuses perspectives pour l’amélioration de leur détection en imagerie. / Focal cortical dysplasia type 2 (FCD2) is a common cause of intractable partial epilepsy surgically treatable. Their detection by MRI is an independent factor of good prognosis. The MR imaging diagnosis remains difficult with up to 40% negative MRI. Our main objective is to improve the detection of FCD2from conventional sequences, to assess the relevance of increased magnetic field and validate new tools for detection, in particular by identifying sulcal abnormalities associated with FCD2 automatically and visually. This study was carried out from one of the largest cohort of patients (> 80 patients) with histologically proven FCD2. The evaluation of the frequency of each MR signs showed that, although no abnormality is seen in 41% of cases, the different signs in patients with a positive MRI were never isolated and the combination of the 3 most suggestive signs of FCD2 (cortical thickening, bluring of the gray-white matter interface and "transmantle sign") was found in 27 patients (64%), indicating that MRI can be very suggestive. By increasing the magnetic field from 1.5 to 3T MRI detection rate is only slightly changed but characterization of FCD2 is improved thanks to a better visualization of the " transmantle sign " considered as a MR signature of FCD2. The automated sulcus analysis based on the calculation of a new parameter called "sulcal energy" identifies abnormal sulcal patterns in patients with FCD2 in the central region in comparison to healthy subjects. This result underlines the importance of the identification of sulci and could provide an additional criterion for detecting and locating the lesion in patients with negative MRI. Finally, the visual analysis of sulci by 3D reformatting of the cortex allowed us to describe a new MR sign of FCD2 in the central region: a sulcal pattern called the "Power Button Sign". Given its excellent reproducibility and specificity, it could be used as a new major diagnostic criterion of FCD2 in the central region. All these results contribute to the better understanding of the developmental processes involved in the pathophysiology of FCD2 and offers many opportunities for improving their MR detection.

Optimizing of Epilepsy Surgery in Paediatric Patients Abstract Epilepsy surgery represents an effective treatment of intractable focal epilepsy. The presented work aims to describe the state of the art and enhance diagnostic and therapeutic algorithm in paediatric patients. The ultimate goal is to improve the outcome of surgeries. The work depicts the evolution of the paediatric epilepsy surgery program in Motol Epilepsy Center over the course of years 2000-2017. Complexity of patients (younger age, epileptogenic zone in proximity of eloquent cortex, multifocal MRI findings) and surgeries (hemispherotomy) alike increased over time. However, the outcomes in terms of postoperative seizure-freedom and complications remained stable. Cognitive abilities of patients improved by 9.1 IQ/DQ points one year after surgery. Patients with preexisting intellectual deficit reached the most significant increase. We developed a novel paradigm of intraoperative cortical electrical stimulation mapping. Furthermore, we introduced a technique employing visual detection of SEEG electrodes during the surgery. These procedures aim to achieve a complete resection while avoiding complications. We developed and standardized Czech versions of questionnaires IPES a QOLIE-AD-48 assessing quality of life in children with epilepsy. We...

Epilepsy, as the most common chronic neurological disease, affects a significant part of population (0.5-1%). Drug resistant epilepsy has a significant negative effect on the quality of life, psychiatric comorbidities, neurocognitive performance and the risk of SUDEP in children. Therefore, resective epilepsy surgery, the only curative treatment of this condition, can fundamentally reverse this unfavorable prognosis. An inevitable prerequisite for a good postoperative result is complete removal of the epileptogenic zone (EC) and preservation of eloquent areas (EC). At present, even with improving and new preoperative non-invasive methods, we don't have an exclusive diagnostic method for theirs delineation. The aim of this PhD study is to assess benefit of individual intraoperative electrophysiological (iEF) methods in pediatric patients with focal intractable epilepsy. The first study evaluates the importance of intraoperative electrocorticography (iECoG) in the localization of EZ. The study proved that iECoG serves as a reliable tool to guide surgical resection and may predict results of epilepsy surgery. iECoG-based modification of surgical plan is not associated with increased risk of significant complications. The second presented study analyzed the contribution of intraoperative electrical...