keyword
MENU ▼
Read by QxMD icon Read
search

Child epilepsy

keyword
https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#1
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29789444/short-term-seizure-outcomes-in-childhood-epilepsy
#2
Kari Modalsli Aaberg, Inger Johanne Bakken, Morten I Lossius, Camilla Lund Søraas, Kamath K Tallur, Camilla Stoltenberg, Richard Chin, Pål Surén
BACKGROUND AND OBJECTIVES: Seizure freedom is the optimal response to antiepileptic treatment. In previous studies, it has been shown that between 61% and 71% of children with epilepsy achieve seizure freedom, whereas 7% to 20% have drug-resistant epilepsy. The definition of drug resistance has not been consistent across studies, and there is a lack of contemporary population-based data. We used data from a large nationwide child cohort to provide such information, implementing the current standard definition of drug resistance...
May 22, 2018: Pediatrics
https://www.readbyqxmd.com/read/29778017/the-preconception-care-experiences-of-women-with-epilepsy-on-sodium-valproate
#3
Lorna Lawther, Helen Dolk, Marlene Sinclair, Jim Morrow
PURPOSE: To understand the preconception experiences of women with epilepsy who have been taking the teratogenic drug valproate. METHODS: Seven women were recruited, three from a preconception clinic and four from an antenatal clinic in a region of the UK. All had taken valproate preconceptionally. Three preconception clinic encounters were observed and audio-recorded. Interviews with all women were analysed using Interpretative Phenomenological Analysis (IPA). RESULTS: Women experienced a "trajectory of balance"...
May 16, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29760294/breath-profiles-of-children-on-ketogenic-therapy
#4
Vera Ruzsanyi, Miklós Péter Kalapos, Christine Schmidl, Daniela Karall, Sabine Scholl-Buergi, Matthias Baumann
Ketogenic diets (KD) were initially introduced to clinical practice as alimentary approaches with the aim to control drug-resistant epilepsies. Therapy control, particularly at initiation, happens through regular blood analysis and control of urine ketone levels. However, there is a lack of fast, reliable and preferably non-invasive methods of analysis. The exhaled breath contains hundreds of volatile organic compounds (VOCs), which can be modified by diet. The instrumental development of VOC detection converges in the direction of low cost sensors, which can facilitate the self-monitoring of the patients in the future if reliable breath markers are available...
May 15, 2018: Journal of Breath Research
https://www.readbyqxmd.com/read/29745359/contribution-of-family-relatedness-to-neurobehavioral-comorbidities-in-idiopathic-childhood-epilepsies
#5
Dace N Almane, Qianqian Zhao, Paul J Rathouz, Melissa Hanson, Daren C Jackson, David A Hsu, Carl E Stafstrom, Jana E Jones, Michael Seidenberg, Monica Koehn, Bruce P Hermann
OBJECTIVES: Rates of cognitive, academic and behavioral comorbidities are elevated in children with epilepsy. The contribution of environmental and genetic influences to comorbidity risk is not fully understood. This study investigated children with epilepsy, their unaffected siblings, and controls to determine the presence and extent of risk associated with family relatedness across a range of epilepsy comorbidities. METHODS: Participants were 346 children (8-18 years), n=180 with recent-onset epilepsy, their unaffected siblings (n=67), and healthy first-degree cousin controls (n=99)...
May 10, 2018: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/29730500/changes-in-antiepileptic-drug-prescribing-patterns-in-pregnant-women-with-epilepsy
#6
Kimford J Meador, Page B Pennell, Ryan C May, Elizabeth Gerard, Laura Kalayjian, Naymee Velez-Ruiz, Patricia Penovich, Jennifer Cavitt, Jaqueline French, Sean Hwang, Alison M Pack, Maria Sam, Eugene Moore, Dominic M Ippolito
OBJECTIVE: We analyzed current prescribing patterns for antiepileptic drugs (AEDs) in pregnant women with epilepsy (PWWE) at 20 USA tertiary epilepsy centers. METHODS: The Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs (MONEAD) study is an NIH-funded, prospective, observational, multicenter investigation of pregnancy outcomes for both mother and child, which enrolled women from December 2012 to January 2016. Inclusion criteria for PWWE included ages 14-45 years and up to 20 weeks gestational age...
May 3, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29728757/recurrent-meningitis-in-children-etiologies-outcome-and-lessons-to-learn
#7
Amira Masri, Abeer Alassaf, Najwa Khuri-Bulos, Imad Zaq, Azmy Hadidy, Faris G Bakri
PURPOSE: Recurrent meningitis in children is a rare condition. However, its early recognition is important in order to prevent serious complications. This study aims to review cases of recurrent meningitis in children. METHODS: This is a retrospective study that included children diagnosed with recurrent meningitis and who were followed at child neurology clinic at the Jordan University Hospital from January 2001 to June 2017. RESULTS: Thirteen patients were included (nine males and four females)...
May 4, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29723797/psychometric-evaluation-of-the-epilepsy-related-fears-in-parents-questionnaire
#8
Anne Hagemann, Margarete Pfäfflin, Fridtjof W Nussbeck, Theodor W May
OBJECTIVE: The aim of the article was to examine the psychometric properties of the Epilepsy-related Fears in Parents Questionnaire (EFPQ). METHOD: Internal consistency, factor structure, and construct validity were analyzed based on data from 291 parents participating in the baseline assessment of a quasi-experimental study on the efficacy of the FAMOSES (modulares Schulungsprogramm Epilepsie für Familien) parents' program. The control group of this study was used to calculate the test-retest reliability, while the responsiveness of the questionnaire was evaluated by comparing matched groups of FAMOSES participants and control parents...
April 30, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29719929/the-effect-of-parity-on-risk-of-complications-in-pregnant-women-with-epilepsy-a-population-based-cohort-study
#9
Kim C Danielsson, Ingrid Borthen, Nils E Gilhus, Nils H Morken
INTRODUCTION: Women with epilepsy have increased risk of complications in pregnancy with consequences for the mother and child. There are no studies on the influence of parity on complications in women with epilepsy. MATERIAL AND METHODS: This was a population-based cohort study of all first and second births in the Medical Birth Registry of Norway 1999-2013. Risks were estimated and complication rates were compared in distinct women with epilepsy treatment categories...
May 2, 2018: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29712502/a-new-approach-for-assessing-executive-functions-in-everyday-life-among-adolescents-with-genetic-generalised-epilepsies
#10
Sharon Zlotnik, Aharon Schiff, Sarit Ravid, Eli Shahar, Joan Toglia
Studies have characterised relationships between cognitive status and a variety of clinical epilepsy factors. The aim of this study was to describe a new approach for assessing executive functions in everyday life and its unique expression in adolescents with Genetic Generalised Epilepsies (GGEs) compared with typical peers. Twenty adolescents with a diagnosis of GGEs and 20 typical healthy peers, matched by age and gender, were studied. Assessment of everyday executive function was carried out using: (1) the Weekly Calendar Planning Activity (WCPA), a direct performance based and outcome measure of strategy use and cognitive performance; and (2) Behavior Rating Inventory of Executive Function (BRIEF) parental report...
April 30, 2018: Neuropsychological Rehabilitation
https://www.readbyqxmd.com/read/29702412/vagus-nerve-stimulation-for-6-to-12-year-old-children-with-refractory-epilepsy-impact-on-seizure-frequency-and-parenting-stress-index
#11
Hueng-Chuen Fan, Ting-Rong Hsu, Kai-Ping Chang, Shyi-Jou Chen, Jeng-Dau Tsai
OBJECTIVES: Refractory epilepsy (RE) is frequently associated with neuropsychological impairment in children and may disrupt their social development. Vagus nerve stimulation (VNS) had been reported to have beneficial effects on behavioral outcomes. The aim of this study was to compare Parenting Stress Index (PSI) scores before and after VNS device implantation in children with RE, especially those who experienced seizure frequency reduction. METHODS: We conducted a one-group pretest-posttest study in school age children with RE...
April 24, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29700085/valproate-life-saving-life-changing
#12
Rhys H Thomas
Antiepileptic medications, and valproate principally, are commonly prescribed teratogens. There is significant concern that we are not doing enough to educate clinicians and potential parents about the risks of valproate in pregnancy. There is clear advice from the Medicines and Healthcare products Regulatory Agency and the International League Against Epilepsy about the risks of valproate exposure in utero Reviews and guidelines that are focused on fetal risk, however, fall short in being able to fully replicate the complexity of a real clinical decision...
April 1, 2018: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/29696042/bone-metabolism-disorder-in-epileptic-children
#13
MAaryam Nakhaee Moghadam, Alireza Teimouri, Ali Khajeh, Seyed Bahare Hoseini
Objective: There are frequent anti-epileptic drugs used in management of epilepsy. Anti-epileptic drugs may have some complications on bone and vitamin D metabolism. This study aimed to comparison the bone metabolism disorder in epileptic children with healthy child in Zahedan, eastern Iran from Jul 2014 to Jun 2015. Materials & Methods: This case-control study was performed on bone metabolism disorder in epileptic children between 2014-2015. Forty epileptic children were enrolled based on accessibility scheme and 40 participants randomly selected for control group from those referred to the pediatric ward and clinic of Ali Ebn Abi Talib Hospital and Ali Asghar Clinic in Zahedan City, Sistan & Baluchestan Province, eastern Iran...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29685768/accelerated-long-term-forgetting-and-behavioural-difficulties-in-children-with-epilepsy
#14
Michael B Gascoigne, Mary Lou Smith, Belinda Barton, Richard Webster, Deepak Gill, Suncica Lah
Patients with epilepsy have been shown to exhibit a range of memory deficits, including the rapid forgetting of newly-learned material over long, but not short, delays (termed accelerated long-term forgetting; ALF). Behavioural problems, such as mood disorders and social difficulties, are also overrepresented among children with epilepsy, when compared to patients with other chronic diseases and the general population. We investigated whether ALF was associated with behavioural or psychosocial deficits in children with epilepsy...
March 30, 2018: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29680919/aggravation-of-seizures-and-status-epilepticus-after-vagal-nerve-stimulation-therapy-the-first-pediatric-case-and-review-of-the-literature
#15
Ebru Arhan, Ayşe Serdaroğlu, Tuğba Hirfanoğlu, Gökhan Kurt
BACKGROUND: We describe the first child with drug-resistant epilepsy in whom vagus nerve stimulation aggravated seizures and emerged status epilepticus after the increase in vagal nerve stimulation current output. OBJECTIVE: A 13-year-old girl presented with refractory secondary generalized focal epilepsy. Vagal nerve stimulator was implanted because of drug-resistant epilepsy. After the increase of vagal nerve stimulator current output to a relatively high level, the patient experienced seizure aggravation and status epilepticus...
April 22, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29677923/profiling-databases-to-facilitate-comparison-of-child-health-systems-across-europe-using-standardised-quality-markers
#16
Harshana Liyanage, Stacy Shinneman, Uy Hoang, Filipa Ferreira, Denise Alexander, Michael Rigby, Mitch Blair, Simon de Lusignan
Models of child primary health care vary across Europe. There are three categories, primary care paediatricians, general practitioner based, or mixed. This paper describes the metadata schema used in the profiling process of candidate data sources for appraisal for the Models of Child Health Appraised (MOCHA) project using the MOCHA International Research Opportunity Instrument (MIROI). The ten clinical indicators included: asthma, antibiotic stewardship, immunisation, rickets, diarrhea, epilepsy, depression, ADHD, enuresis and care of women during pregnancy...
2018: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/29676681/frameless-robot-assisted-stereoelectroencephalography-in-children-technical-aspects-and-comparison-with-talairach-frame-technique
#17
Taylor J Abel, René Varela Osorio, Ricardo Amorim-Leite, Francois Mathieu, Philippe Kahane, Lorella Minotti, Dominique Hoffmann, Stephan Chabardes
OBJECTIVE Robot-assisted stereoelectroencephalography (SEEG) is gaining popularity as a technique for localization of the epileptogenic zone (EZ) in children with pharmacoresistant epilepsy. Here, the authors describe their frameless robot-assisted SEEG technique and report preliminary outcomes and relative complications in children as compared to results with the Talairach frame-based SEEG technique. METHODS The authors retrospectively analyzed the results of 19 robot-assisted SEEG electrode implantations in 17 consecutive children (age < 17 years) with pharmacoresistant epilepsy, and compared these results to 19 preceding SEEG electrode implantations in 18 children who underwent the traditional Talairach frame-based SEEG electrode implantation...
April 20, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29668588/a-delayed-diagnosis-of-catecholaminergic-polymorphic-ventricular-tachycardia-with-a-mutant-of-ryr2-at-c-7580t-g-for-6-years-in-a-9-year-old-child
#18
Hongyu Duan, Yongyi Lu, Song Yan, Lina Qiao, Yimin Hua, Yifei Li, Kaiyu Zhou, Chuan Wang
RATIONALE: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but potentially lethal inherited arrhythmia syndrome induced by adrenergic stress. Due to the atypical clinical manifestations in early age, limited recognition and experience of pediatric cardiologists, and low awareness of the significance of genetic diagnosis in some underdeveloped areas in China, a delayed or missed diagnosis of CPVT in children is common and concerning. PATIENT CONCERNS: A 9-year and 3-month male child with recurrent exercise-induced syncope accompanied by convulsion was initially misdiagnosed as epilepsy since the first manifestation at the age of 3 years...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29667920/child-life-services-in-an-epilepsy-monitoring-unit
#19
Daniel B Lowenstein, Mackenzie C Cervenka, Lauren Mitchell, Noelle Stewart, Eric H Kossoff, Sarah A Kelley
The goal of this study was to determine the value of a certified child life specialist (CCLS) on the patient and staff experiences in an epilepsy monitoring unit (EMU). We integrated a CCLS into the EMU for all children as well as adults with intellectual disability. We surveyed families to determine the impact of child life services on their stay. EMU staff completed questionnaires to determine perceived impact to their job performance from the integration of the CCLS. All of the families (pediatric and adult patients) who responded to the survey reported the presence of the CCLS improved their hospital experience...
April 1, 2018: Clinical Pediatrics
https://www.readbyqxmd.com/read/29644487/therapeutic-use-of-carbohydrate-restricted-diets-in-an-autistic-child-a-case-report-of-clinical-and-18fdg-pet-findings
#20
Iwona Żarnowska, Beata Chrapko, Grażyna Gwizda, Anna Nocuń, Krystyna Mitosek-Szewczyk, Maciej Gasior
The ketogenic diet (KD) is a high-fat, adequate-protein, and low-carbohydrate diet that has been used successfully in the treatment of refractory epilepsies for almost 100 years. There has been accumulating evidence to show that the KD may provide a therapeutic benefit in autism spectrum disorders, albeit by a yet-unknown mechanism. We report a case of a 6-year-old patient with high-functioning autism and subclinical epileptic discharges who responded poorly to several behavioural and psychopharmacological treatments...
April 11, 2018: Metabolic Brain Disease
keyword
keyword
39720
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"