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https://www.readbyqxmd.com/read/28734197/life-impact-of-caregiving-for-severe-childhood-epilepsy-results-of-expert-panels-and-caregiver-focus-groups
#1
Mark P Jensen, Kendra S Liljenquist, Fraser Bocell, Arnold R Gammaitoni, Carey R Aron, Bradley S Galer, Dagmar Amtmann
Severe epilepsy in children and young adults can significantly affect the lives of their caregivers. However, the lack of a reliable and valid measure of caregiver impact has limited our understanding of the scope and correlates of this impact, as well as our ability to measure the effects of treatments that could lessen it. The purpose of this study was to facilitate focus groups and interviews with an international group of clinician experts and caregivers to identify the most important domains that should be assessed in a measure of caregiver impact...
July 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28724747/interleukin-1-receptor-in-seizure-susceptibility-after-traumatic-injury-to-the-pediatric-brain
#2
Bridgette D Semple, Terence J O'Brien, Kayleen Gimlin, David K Wright, Shi Eun Kim, Pablo M Casillas-Espinosa, Kyria M Webster, Steven Petrou, Linda J Noble-Haeusslein
Epilepsy after pediatric traumatic brain injury (TBI) is associated with poor quality of life. This study aimed to characterize post-traumatic epilepsy in a mouse model of pediatric brain injury, and to evaluate the role of interleukin-1 (IL-1) signaling as a target for pharmacological intervention. Male mice received a controlled cortical impact or sham surgery at postnatal day 21, approximating a toddler-aged child. Mice were treated acutely with an IL-1 receptor antagonist (IL-1Ra; 100 mg/kg s.c.) or vehicle...
July 19, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28721930/pharmacoresistant-epileptic-eyelid-twitching-in-a-child-with-a-mutation-in-syngap1
#3
Tetsuya Okazaki, Yoshiaki Saito, Rika Hiraiwa, Shinji Saitoh, Masachika Kai, Kaori Adachi, Yoko Nishimura, Eiji Nanba, Yoshihiro Maegaki
SYNGAP1 gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video-EEG, have not been reported. We report the case of a 4-year-old boy who developed recurrent epileptic eyelid twitching at 1 year and 5 months of age. Seizures gradually increased in frequency to more than 50 times per day and manifested with upward eye deviation, motion arrest, loss of consciousness, and eyelid twitching lasting for five seconds...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28720085/my-child-cannot-breathe-while-sleeping-a-report-of-three-cases-and-review
#4
Won Hee Seo, Minkyu Park, So-Hee Eun, Seonkyeong Rhie, Dae Jin Song, Kyu-Young Chae
BACKGROUND: Sudden breath-holding episodes during sleep in young children are potentially related to sudden infant death syndrome and other life-threatening events. Additionally, these episodes can negatively affect child's growth and development. CASE PRESENTATION: Here, we present 3 cases of preschool children with similar paroxysmal nocturnal waking events associated with choking that had different etiologies (nocturnal frontal lobe epilepsy, nocturnal gastroesophageal reflux disease, and parasomnia, respectively)...
July 18, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28709121/spatiotemporal-propagation-patterns-of-generalized-ictal-spikes-in-childhood-absence-epilepsy
#5
Vasileios Kokkinos, Andreas M Koupparis, Michalis Koutroumanidis, George K Kostopoulos
OBJECTIVE: This work investigates the spatial distribution in time of generalized ictal spikes in the typical absences of childhood absence epilepsy (CAE). METHODS: We studied twelve children with CAE, who had more than two typical absences during their routine video-EEG. Seizures were identified, and ictal spikes were marked over the maximum electronegative peak, clustered, waveform-averaged and spatiotemporaly analyzed in 2D electrode space. RESULTS: Consistency of spatiotemporal patterns of ictal spikes was high between the absences of the same child, but low between children...
June 17, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28687558/seizure-management-in-children-requiring-palliative-care-a-review-of-current-practice
#6
Nicola Harris, Megumi Baba, Charlotte Mellor, Rebekah Rogers, Kirsty Taylor, Antonia Beringer, Peta Sharples
OBJECTIVES: Controlling seizures in children approaching death can be difficult, and there is a limited evidence base to guide best practice. We compared current practice against the guidance for seizure management produced by the Association of Paediatric Palliative Medicine (APPM). METHODS: Retrospective case note review of episodes of challenging seizure management in children receiving end-of-life care over a 10-year period (2006-2015) in the south-west region of England...
July 7, 2017: BMJ Supportive & Palliative Care
https://www.readbyqxmd.com/read/28669649/-dress-syndrome-and-agranulocytosis-a-rare-combination
#7
P Lavenant, J-M Roue, F Huet, C Abasq, L Misery, S Rioualen
INTRODUCTION: Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe toxidermia that can lead to death from multivisceral failure. We report a case of DRESS associated with febrile agranulocytosis in a child. OBSERVATION: An 8-year-old child was hospitalized for diffuse maculopapular exanthema with edema of the extremities and face associated with cheilitis and febrile agranulocytosis. This symptomatology began 1month after the introduction of carbamazepine for partial epilepsy...
June 29, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28658653/perceived-need-for-restrictions-on-activity-for-children-with-epilepsy
#8
Paula M Brna, Kevin E Gordon, Elaine Woolridge, Joseph M Dooley, Ellen Wood
BACKGROUND: Children and youth with epilepsy have long been subjected to excessive restrictions on extracurricular activities due to concerns over risk of injury. Over time physicians and medical regulatory associations have liberalized the advice given for people with epilepsy to promote independence, self-esteem and general health benefits of physical activity. Current evidence suggests that few restrictions are needed for children with epilepsy beyond water-related precautions and avoidance of very high-risk activities...
June 25, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28652222/hemiconvulsion-hemiplegia-epilepsy-syndrome-in-a-child-with-pre-existing-cerebral-pathology
#9
Athi Ponnusamy, Ahsan Nv Moosa
No abstract text is available yet for this article.
June 24, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28641166/care-coordination-at-a-pediatric-accountable-care-organization-aco-a-qualitative-analysis
#10
Baria Hafeez, Sophia Miller, Anup D Patel, Zachary M Grinspan
OBJECTIVE: Care coordinators may help manage care for children with chronic illness. Their role in pediatric epilepsy care is understudied. We aimed to qualitatively describe the content of a care coordination intervention for children with epilepsy. METHODS: We conducted nine semi-structured interviews and one focus group with care coordinators at a pediatric accountable care organization (ACO) in Ohio. The care coordinators used a modified version of a published care coordination checklist for children with epilepsy (Patel AD, 2014)...
June 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28637637/alternating-hemiplegia-of-childhood-and-a-pathogenic-variant-of-atp1a3-a-case-report-and-pathophysiological-considerations
#11
Elena Pavlidis, Peter Uldall, Camilla Gøbel Madsen, Marina Nikanorova, Martin Fabricius, Hans Høgenhaven, Francesco Pisani, Rikke S Møller, Elena Gardella, Guido Rubboli
We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. The patient started to present abnormal eye movements in the first days of life, followed by the appearance at 2 months of dystonic episodes, and later on, by recurrent episodes of alternating hemiplegia more often on the right side. A severe epilepsy started at the age of 2 years with episodes of status epilepticus since the onset which frequently recurred, requiring admission to the intensive care unit...
June 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28632327/photosensitivity-is-an-early-marker-of-neuronal-ceroid-lipofuscinosis-type-2-disease
#12
Nicola Specchio, Marcello Bellusci, Nicola Pietrafusa, Marina Trivisano, Luca de Palma, Federico Vigevano
OBJECTIVE: This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and optimized care and outcomes. METHODS: Retrospective clinical chart review of a series of patients diagnosed with CLN2 disease from 2005 to 2015 at a single center in Italy. Clinical, MRI, and EEG findings were reviewed...
June 20, 2017: Epilepsia
https://www.readbyqxmd.com/read/28625946/educational-needs-of-epileptologists-regarding-psychiatric-comorbidities-of-the-epilepsies-a-descriptive-quantitative-survey
#13
Marco Mula, Esper Cavalheiro, Alla Guekht, Andres M Kanner, Hyang Woon Lee, Çiğdem Özkara, Alfredo Thomson, Sarah J Wilson
Psychiatric disorders are relatively frequent comorbidities in epilepsy and they have an impact on morbidity, mortality, and quality of life. This is a report from the Task Force on Education of the ILAE Commission on Neuropsychiatry based on a survey about educational needs of epileptologists regarding management of the psychiatric comorbidities of epilepsy. The Task Force designed a quantitative questionnaire to survey the self-perceived confidence of child and adult epileptologists and psychiatrists in managing major psychiatric comorbidities of epilepsy to identify: (1) critical areas of improvement from a list of skills that are usually considered necessary for effective management of these conditions, and (2) the preferred educational format for improving these skills...
June 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28620276/an-analysis-of-a-novel-short-term-therapeutic-psychoeducational-program-for-children-and-adolescents-with-chronic-neurological-illness-and-their-parents-feasibility-and-efficacy
#14
Bonglim Joo, Young-Mock Lee, Heung Dong Kim, Soyong Eom
The purpose of this intervention was to develop a therapeutic psycho-educational program that improves quality of life in children and adolescents who are experiencing chronic neurological illness, including epilepsy, and their parents, and to analyze the intervention's feasibility and efficacy and participants' satisfaction. Participants were eight children (n = 8) and adolescents and their parents; participating children were experiencing chronic neurological illness with psychological comorbidity; children with intellectual impairment were excluded (IQ < 80)...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28615945/ictal-blinking-an-under-recognized-phenomenon-our-experience-and-literature-review
#15
Marco Andrea Nicola Saporito, Giovanna Vitaliti, Piero Pavone, Giuseppa Di Stefano, Pasquale Striano, Roberto Horacio Caraballo, Raffaele Falsaperla
Ictal blinking (IB) is a very rare disease manifesting as an epileptic motor event in children and adults. Until now it has not been included in any classification of focal seizures of the International League Against Epilepsy Commission. It could be unilateral or bilateral, isolated or in association with other motor manifestations such as limbs' clonus and spasms. Its pathogenesis has not been clearly established: paroxysmal discharges from different areas of the brain could cause IB by activation of trigeminal fibers...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28603689/spiders-ladybugs-and-bees-a-case-of-unusual-sensations-in-a-child-with-cingulate-epilepsy
#16
Robyn Whitney, Sameer AlMehmadi, Cristina Go, Ayako Ochi, Hiroshi Otsubo, Laura Bradbury, Kevin Jones, Eisha Christian, James Rutka, Bláthnaid McCoy
Cingulate epilepsy is a rare form of epilepsy. Seizures from the anterior cingulate may present with mood change, fear, hypermotor activity, and autonomic signs, while posterior cingulate seizures resemble temporal lobe seizures. We describe a child with cingulate epilepsy who experienced unpleasant/painful sensory phenomenon. The sensations were described as spiders crawling on his forehead/right leg, ladybugs causing right ear pain and bees stinging his head/right extremities. Unpleasant sensory phenomenon/pain are rarely reported in cingulate epilepsy...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28602030/variable-expressivity-of-a-likely-pathogenic-variant-in-kcnq2-in-a-three-generation-pedigree-presenting-with-intellectual-disability-with-childhood-onset-seizures
#17
Stacy Hewson, Klajdi Puka, Saadet Mercimek-Mahmutoglu
KCNQ2 has been reported as a frequent cause of autosomal dominant benign familial neonatal seizures. De novo likely pathogenic variants in KCNQ2 have been described in neonatal or early infantile onset epileptic encephalopathy patients. Here, we report a three-generation family with six affected patients with a novel likely pathogenic variant (c.628C>T; p.Arg210Cys) in KCNQ2. Four family members, three adults and a child, presented with a childhood seizure onset with variability in the severity of seizures and response to treatment, intellectual disability (ID) as well as behavioral problems...
June 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28600632/dynamic-complexity-measures-and-entropy-paths-for-modelling-and-comparison-of-evolution-of-patients-with-drug-resistant-epileptic-encephalopathy-syndromes-drees
#18
Ricardo Zavala-Yoe, Ricardo A Ramirez-Mendoza
Epileptic encephalopathies (EE) is a term coined by the International League Against Epilepsy (ILAE) to refer to a group of epilepsies in which the ictal and interictal abnormalities may contribute to progressive cerebral dysfunction. Among them, two affect mainly children and are very difficult to deal with, Doose and Lennox-Gastaut syndromes, (DS and LGS, respectively). So far (Zavala-Yoe et al., J Integr Neurosci 15(2):205-223, 2015a and works of ours there), quantitative analysis of single case studies of EE have been performed...
June 9, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28583702/barriers-to-genetic-testing-for-pediatric-medicaid-beneficiaries-with-epilepsy
#19
Eric J Kutscher, Sucheta M Joshi, Anup D Patel, Baria Hafeez, Zachary M Grinspan
BACKGROUND: Children with public insurance (Medicaid) have increased barriers to specialty care in the United States. For children with epilepsy, the relationship between public insurance and barriers to genetic testing is understudied. METHODS: We surveyed a sample of US child neurology clinicians. We performed quantitative and qualitative analysis of responses. RESULTS: There were 302 responses (of 1982 surveyed; response rate 15%) from clinicians from 46 states, the District of Columbia, and Puerto Rico, including board-certified child neurologists (82%), resident physicians (6%), nurses (3%), and nurse practitioners (3%)...
April 20, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28576131/analysis-of-31-year-old-patient-with-syngap1-gene-defect-points-to-importance-of-variants-in-broader-splice-regions-and-reveals-developmental-trajectory-of-syngap1-associated-phenotype-case-report
#20
Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek
BACKGROUND: Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role. The definition of the phenotype range and course of rare genetic conditions requires long-term clinical follow-up of patients. CASE PRESENTATION: We report an adult female patient with severe intellectual disability, severe speech delay, epilepsy, autistic features, aggressiveness, sleep problems, broad-based clumsy gait and constipation...
June 2, 2017: BMC Medical Genetics
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