Epilepsy education can help address a multitude of concerns encountered by families of children with seizures. The Mobile Epilepsy Education Package (MEEP) was developed, tested and integrated into practice in Turkey to manage epilepsy and increase treatment compliance. This study aims to develop English and French versions of MEEP, adapt it culturally, and evaluate its effectiveness. A two-group, single-center, randomized controlled intervention trial with 1:1 allocation ratio will be conducted in the Pediatric Neurology Clinic of the Montreal Children's Hospital. Seventy-two caregivers of children with epilepsy (intervention=36, control= 36), aged 1-17 years, will be recruited. Family Introduction Form, Epilepsy Information Scale for Parents and Parental Anxiety Scale for Seizures will be used to collect data at baseline and 3 weeks post-delivery of the 7-week intervention. The MEEP consists of 2 parts: educational content and a parental monitoring section. The control group will receive standard educational services. Primary outcomes are epilepsy knowledge and anxiety, which will be analyzed using multivariate analysis. The content of the MEEP and the questions of the epilepsy education package have been translated into English and French and transferred to the smartphone application. By the end of the study, the English and French versions of MEEP will have been rigorously tested, and ready for future testing and scalability evaluations in Canada. Together, a simple-to-use, easy-to-access and low-cost mobile application will have been created to address a critical gap in the provision of supports and resources for families managing a child with epilepsy in Canada.
Introduction: Rett syndrome (RS) is a neurodevelopmental disorder characterised by speech regression, loss of acquired voluntary hand skills, and stereotypic hand movements and gait abnormalities. IQSEC2 mutation is an Xlinked inherited gene that can cause X-linked semidominant disorders with different severity between males and females such as intellectual disability, epilepsy, autism, microcephaly,d stereotypic movement disorder etc. Material-Methods: Written informed consent was obtained from the patient and his guardian for the case report. Identity information was hidden due to patient privacy. Case Report: An 8-year-old male patient was followed for epilepsy and global developmental regression. In the medical history, neuromotor development was normal for the first 12 months, after which there was a loss of voluntary hand skills and a loss of language ability. Follow-up of the patient revealed gait impairment and Rett-like stereotypic hand movements. The brain MRI examination was normal. No abnormality was detected in the basic metabolic and genetic work up. IQSEC2 mutation was detected in the large epilepsy next-generation sequence analysis panel. Because of presence of all the main clinical criteria ,IQSEC2-related RS was diagnosed in the patient. Conclusion: RS is a clinical diagnosis, for which all the main criteria are required. IQSEC2 mutation should be considered in male patients presenting with clinical findings consistent with RS, and in whom common mutations such as MECP2, CDKL5, and FOXG1 are not detected.
Introduction: Febrile Infection-Related Epilepsy Syndrome [FIRES] is a rare, catastrophic epileptic syndrome that strikes previously healthy children, whose pathogenesis is unknown. It starts with a febrile illness and refractory seizures, but without evidence of an identifiable infectious encephalitis. Purpose: To study the course of illness and the outcomes in children with FIRES. Methods: This is a retrospective study conducted at a tertiary healthcare center in southern India between August 2014 and August 2022, which included all children diagnosed with FIRES. The demographic details, clinical manifestation, cerebrospinal fluid [CSF] analysis, neuroimaging findings, electroencephalography (EEG), treatment, and outcome were analyzed. Results: A male preponderance of 66% (12/18) was noted, with the median age of disease onset being 8.55 years. The onset of seizures following fever was noted at a median duration of 3 days. The median duration of hospitalization was 26 days. The average number of anti-seizure medications (ASMs) used was five. The CSF analysis was normal in 72% [13/18], pleocytosis seen in 16% [3/18], and elevated protein in 11% [2/18]. Neuroimaging was done in all children. Of the eighteen cases, 22% showed cerebral edema [4/18], while 5% [1/18] showed irregular hyperintensities, and 72% [13/18]were normal. The EEG was abnormal in all the cases, with multifocal epileptiform discharges being the commonest finding, seen in 77% [14/18]. The outcome was analyzed using a modified Rankin scale(mRS). Among those who survived, the score ranged from 1 to 3, with a median score of 2, reflecting mild disability. Fifty percent of the cases succumbed. The most common cause of death was septic shock, followed by arrhythmias. The surviving nine children underwent magnetic resonance imaging [MRI] during follow-up, and 66% [6/9] had abnormal neuroimaging findings, with cerebral atrophy being the commonest finding. Conclusion: FIRES is a highly fatal condition, occurring in previously normal children, more commonly boys. The condition requires multiple ASMs to halt the seizures. All the infective parameters, including CSF analysis, were normal. Fifty percent mortality and fifty percent morbidity was seen.
Significance Recognition of intracranial hemorrhage is challenging in children who require deep sedation to tolerate mechanical ventilation. The Correlate Of Injury to the Nervous System (COIN) index may enable real-time recognition of intracranial hemorrhage at bedside. Methods Retrospective analysis of electroencephalography (EEG) data from children with spontaneous intracranial hemorrhage while intubated and sedated in the pediatric intensive care unit. Patients were selected for having normal head imaging at time of EEG start and required demonstration of hemorrhage on repeat imaging following an uninterrupted period of EEG recording. Power spectrum data were analyzed to yield a COIN value and visualization for every 4 seconds of recording. EEG recordings were subdivided based on COIN-risk alarm states (low, medium, or high). Changes in COIN were compared with changes in commercially available quantitative EEG trending software. COIN values for each subdivision were compared within cases using the Wilcoxon Rank-Sum Test. Results Two children developed spontaneous intracranial hemorrhage while intubated. COIN shows transitions from low-to-medium (p<0.001) and medium-to-high-risk (p<0.001 in both cases) alarm states. Discrete transitions in COIN alarm state preceded clinical recognition of hemorrhage by several hours. COIN visualized focal power attenuation concordant with hemorrhage localization. In both cases, qualitative EEG was not reported to have focal abnormalities during the medium-risk alarm state. Conclusion COIN may assist in real-time recognition of intracranial hemorrhage in children at bedside. Further study and development are required for clinical implementation of COIN in several clinical settings where patients are at high risk of new or worsening intracranial hemorrhage.
