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https://www.readbyqxmd.com/read/28641166/care-coordination-at-a-pediatric-accountable-care-organization-aco-a-qualitative-analysis
#1
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
#2
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 19, 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
#3
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
#4
Marco Mula, Esper Cavalheiro, Alla Guekht, Andres M Kanner, Hyang Woon Lee, Cigdem Ozkara, 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 19, 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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28575381/rebellious-behaviors-in-adolescents-with-epilepsy
#12
Aimee W Smith, Constance Mara, Shannon Ollier, Angela Combs, Avani C Modi
The study aims are to (1) examine the prevalence of risk-taking (i.e., behaviors that can be categorized as rebellious or reckless) and (2) determine the influence of risk-taking on adherence, seizures, and health-related quality of life (HRQOL) in adolescents with epilepsy. An exploratory aim was to identify predictors of risk-taking. Fifty-four adolescents with epilepsy ( M  = 15.33 ± 1.46 years) and caregivers completed questionnaires on demographics, risk-taking, parent-child relations, adolescent inattention/hyperactivity, and HRQOL at four time points across 1 year...
May 30, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/28567029/long-term-developmental-trends-of-pediatric-mitochondrial-diseases-the-five-stages-of-developmental-decline
#13
Soyong Eom, Young-Mock Lee
Mitochondrial diseases (MDs) are a heterogeneous group of progressive multisystem disorders caused by impaired mitochondrial function. This study aimed to evaluate the clinical course and long-term development of 53 pediatric patients with MDs. Developmental function was evaluated at nine time points (two pre-diagnosis, one at diagnosis, and six post-diagnosis), with the developmental quotient (DQ) from the Korean infant and child development test (KICDT) assessing a child's developmental age (rather than chronological age)...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28566195/parenting-stress-in-parents-of-children-with-refractory-epilepsy-before-and-after-vagus-nerve-stimulation-implantation
#14
Sung-Tse Li, Nan-Chang Chiu, Yung-Ting Kuo, Ein-Yiao Shen, Pei-Chieh Tsai, Che-Sheng Ho, Wen-Hsiang Wu, Juei-Chao Chen
OBJECTIVES: The purpose of this study was to evaluate parenting stress in parents of children with refractory epilepsy before and after their children received vagus nerve stimulation (VNS) implantation. METHODS: Parents of children with refractory epilepsy completed the Parenting Stress Index (PSI) under a psychologist's assessment before and at least 12 months after their children received VNS implantation. The PSI questionnaire measures parenting stress in two domains; a parent domain with seven subscales, and a child domain with six...
May 17, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28564623/the-challenges-that-parents-of-children-with-epilepsy-face-a-qualitative-study
#15
Matina Kampra, Nikolaos Tzerakis, Louise Lund Holm Thomsen, Efstathia Katsarou, Konstantinos Voudris, Sotiria D Mastroyianni, Stella Mouskou, Kyriaki S Drossou, Anna Siatouni, Stylianos Gatzonis
OBJECTIVE: This qualitative study explored the challenges that Greek parents/caregivers of children with controlled epilepsy (CwE) face regarding the disorder. METHODS: Interviews were conducted based on open-ended questions guided by a review of the literature. A total of 91 parents/caregivers were recruited by neurologists at the neurology clinics of two Athens public hospitals. A hermeneutic phenomenological approach was used to explore parent/caregiver experiences...
June 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28561263/providing-teachers-with-education-on-epilepsy-increased-their-willingness-to-handle-acute-seizures-in-children-from-1-10-years-of-age
#16
Henriette Karoline Dumeier, Martina Patrizia Neininger, Matthias Karl Bernhard, Andreas Merkenschlager, Wieland Kiess, Thilo Bertsche, Astrid Bertsche
AIM: In Germany, preschool teachers supervise children up to six years of age and are also responsible for supervising older pupils after school. This study explored the impact of a teaching session on epilepsy for teachers in charge of children from 1-10 years of age. METHODS: We evaluated the benefit of a teaching session offered to all preschool teachers in Leipzig, Germany, in 2014-2015, by asking them to complete the same questionnaire 12-24 months pre-intervention, and 12 months post-intervention...
May 31, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28557750/incidence-and-prevalence-of-childhood-epilepsy-a-nationwide-cohort-study
#17
Kari Modalsli Aaberg, Nina Gunnes, Inger Johanne Bakken, Camilla Lund Søraas, Aleksander Berntsen, Per Magnus, Morten I Lossius, Camilla Stoltenberg, Richard Chin, Pål Surén
BACKGROUND AND OBJECTIVES: Epilepsy affects 0.5% to 1% of children and is the most frequent chronic neurologic condition in childhood. Incidence rates appear to be declining in high-income countries. The validity of epilepsy diagnoses from different data sources varies, and contemporary population-based incidence studies are needed. METHODS: The study was based on the Norwegian Mother and Child Cohort Study. Potential epilepsy cases were identified through registry linkages and parental questionnaires...
May 2017: Pediatrics
https://www.readbyqxmd.com/read/28553377/sporadic-hyperekplexia-plus-syndrome
#18
Sadanandavalli Retnaswami Chandra, Chetan Vekhande, Lakshminarayanapuram Gopal Viswanathan, Pooja Mailankody, Karru Venkata Ravi Teja
A disorder of infants and children with pathological startle response, features of other system involvement, falls, and stiffness with retained consciousness. It should be differentiated from conditions such as myoclonic epilepsy, psychogenic movement disorder, Isaac syndrome, Schwartz-Jampel syndrome, Gilles de la Tourette, and culture-specific startle syndromes such as jumping Frenchman of Maine. A 5-year-old child symptomatic with repeated falls spontaneously as well as by sound and activities since neonatal period...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28553372/clinical-spectrum-comorbidities-and-risk-factor-profile-of-cerebral-palsy-children-a-prospective-study
#19
Priyanka Minocha, Sadasivan Sitaraman, Pallavi Sachdeva
AIM AND OBJECTIVE: Cerebral palsy (CP) is the most common motor disability in childhood. This study aimed to describe clinical spectrum, comorbidities, and risk factors associated with CP children. MATERIALS AND METHODS: This hospital-based observational study was conducted in tertiary level hospital in Jaipur including 180 CP children aged 1-12 years, attending the Paediatric Neurology Outdoor and Child Development Centre. A detailed history of antenatal, natal, and postnatal events taken and thorough examination was performed to stratify children in proper topographical and physiological classification...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28506426/heterogeneity-of-fhf1-related-phenotype-novel-case-with-early-onset-severe-attacks-of-apnea-partial-mitochondrial-respiratory-chain-complex-ii-deficiency-neonatal-onset-seizures-without-neurodegeneration
#20
Nathalie Villeneuve, Affef Abidi, Pierre Cacciagli, Cécile Mignon-Ravix, Brigitte Chabrol, Laurent Villard, Mathieu Milh
INTRODUCTION/OBJECTIVES: We report the case of a child prospectively followed in our institution for a severe, neonatal onset epilepsy presenting with severe attacks of apnea that were not initially recognized as seizure since they were not associated with any abnormal movement and since interictal EEG was normal. Recording of attacks using prolonged video-EEG recording allowed to confirm the diagnosis of epileptic seizures. RESULTS: Using whole exome sequencing we found a de novo heterozygous, missense mutation of FHF1 (p...
April 29, 2017: European Journal of Paediatric Neurology: EJPN
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