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European Journal of Paediatric Neurology: EJPN

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https://www.readbyqxmd.com/read/27913086/punctate-white-matter-lesions-in-full-term-infants-with-neonatal-seizures-associated-with-slc13a5-mutations
#1
Lauren C Weeke, Eva Brilstra, Kees P Braun, Evelien Zonneveld-Huijssoon, Gajja S Salomons, Bobby P Koeleman, Koen L van Gassen, Henrica L van Straaten, Dana Craiu, Linda S de Vries
INTRODUCTION: Early-onset epileptic encephalopathy caused by biallelic SLC13A5 mutations is characterized by seizure onset in the first days of life, refractory epilepsy and developmental delay. Little detailed information about the brain MRI features is available in these patients. METHODS: Observational study describing the neuro-imaging findings in eight patients (five families) with mutations in the SLC13A5 gene. Seven infants had an MRI in the neonatal period, two had a follow-up MRI at the age of 6 and 18 months and one only at 13 months...
November 19, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27889381/do-developmental-milestones-at-4-8-12-and-24-months-predict-iq-at-5-6-years-old-results-of-the-eden-mother-child-cohort
#2
Hugo Peyre, Marie-Laure Charkaluk, Anne Forhan, Barbara Heude, Franck Ramus
RATIONALE: The present study aims: (i) to determine how well developmental milestones at 4, 8, 12 and 24 months may predict IQ at 5-6 years old, (ii) to identify cognitive domains during the first two years that best predict later IQ and (iii) to determine whether children with IQ in the normal range at 5-6 years old may differ from disabled (IQ < 70) and gifted children (IQ > 130) with regard to their early cognitive development. METHOD: The main developmental milestones were collected through self-administered questionnaires rated by parents at 4, 8, 12 and 24 months and through parental questionnaires administered by a trained interviewer and questionnaires completed following a medical examination at 12 months...
November 15, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27864012/toolbox-of-multiple-item-measures-aligning-with-the-icf-core-sets-for-children-and-youth-with-cerebral-palsy
#3
REVIEW
Verónica Schiariti, Sandy Tatla, Karen Sauve, Maureen O'Donnell
Selecting appropriate measure(s) for clinical and/or research applications for children and youth with Cerebral Palsy (CP) poses many challenges. The newly developed International Classification of Functioning, Disability and Health (ICF) Core Sets for children and youth with CP serve as universal guidelines for assessment, intervention and follow-up. The aims of this study were: 1) to identify valid and reliable measures used in studies with children and youth with CP, 2) to characterize the content of each measure using the ICF Core Sets for children and youth with CP as a framework, and finally 3) to create a toolbox of psychometrically sound measures covering the content of each ICF Core Set for children and youth with CP...
November 4, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27856122/evaluation-of-a-follow-up-program-for-mild-traumatic-brain-injury-in-schoolchildren
#4
R Nowacki, N van Eldik, M Eikens, R Roijen, N Haga, D Schott, T Simons-Sporken, M Wennekes
INTRODUCTION: Mild traumatic brain injury is a common condition in childhood. Although classified as mild, post-concussive symptoms may persist and interfere with daily activities. Because no established guidelines exist with respect to follow-up medical care for these children, there may be a delay in receiving appropriate care. We developed a follow up program to screen for persistent symptoms and if necessary, refer patients for further medical assistance. METHODS: From July 2010 until December 2013, eligible children aged 4-18 years who presented after sustaining a mild traumatic brain injury were included...
November 2, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27840023/pediatric-tbi-in-finland-an-examination-of-hospital-discharges-1998-2012
#5
Michael L Wilson, Olli Tenovuo, Ville M Mattila, Mika Gisler, Karen L Celedonia, Antti Impinen, Simo Saarijärvi
BACKGROUND: Traumatic brain injury constitutes a persistent health problem among pediatric populations worldwide and is often referred to as a silent epidemic. There remains a paucity of scientific exploration with regard to understanding the ecological risk profiles of well-defined populations. In Finland, the healthcare system covers all hospitals, provides uniform access to care and has a universal surveillance system that allows for epidemiological examination of a wide variety of health issues...
November 2, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27847298/nsp4-antibody-levels-in-rotavirus-gastroenteritis-patients-with-seizures
#6
Jung Sook Yeom, Young-Soo Kim, Jin-Su Jun, Hyun Jung Do, Ji Sook Park, Ji-Hyun Seo, Eun Sil Park, Jae-Young Lim, Hyang-Ok Woo, Chan-Hoo Park, Hee-Shang Youn
BACKGROUND: Rotavirus nonstructural protein 4 (NSP4) has been suggested as a pathogen of rotavirus-associated seizures. We investigated pre-existing serum antibodies against NSP4 and VP6 (the most highly immunogenic rotavirus protein) in patients with rotavirus gastroenteritis and its correlation with the occurrence of seizures. METHODS: With an enzyme-linked immunosorbent assay, IgG and IgA titers against NSP4 (genotype [A] and [B]) and VP6 were measured in acute-phase sera of 202 children aged 0...
November 1, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27840024/intracranial-stimulation-for-children-with-epilepsy
#7
Antonio Valentín, Richard P Selway, Meriem Amarouche, Nilesh Mundil, Ismail Ughratdar, Leila Ayoubian, David Martín-López, Farhana Kazi, Talib Dar, Diego Jiménez-Jiménez, Elaine Hughes, Gonzalo Alarcón
OBJECTIVES: To evaluate the efficacy of intracranial stimulation to treat refractory epilepsy in children. METHODS: This is a retrospective analysis of a pilot study on all 8 children who had intracranial electrical stimulation for the investigation and treatment of refractory epilepsy at King's College Hospital between 2014 and 2015. Five children (one with temporal lobe epilepsy and four with frontal lobe epilepsy) had subacute cortical stimulation (SCS) for a period of 20-161 h during intracranial video-telemetry...
November 1, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27840025/where-are-the-opportunities-for-an-earlier-diagnosis-of-primary-intracranial-tumours-in-children-and-young-adults
#8
Thomas P C Chu, Anjali Shah, David Walker, Michel P Coleman
BACKGROUND: Childhood brain tumours have some of the longest time to diagnosis. A timely diagnosis may have a role in reducing anxiety in waiting for a diagnosis and subsequent morbidity and mortality. We investigated where the opportunities for an earlier diagnosis were, and for which anatomical locations this strategy will most likely to be effective. METHODS: A record-linkage cohort study of patients diagnosed aged 0-24 years with a primary intracranial tumour between 1989 and 2006 in England, using records from the National Cancer Registry linked to hospital admission records from Hospital Episode Statistics (HES, 1997-2006) and primary care consultation records from Clinical Practice Research Datalink (CPRD, 1989-2006)...
October 31, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27825557/probable-pseudotumor-cerebri-complex-in-25-children-further-support-of-a-concept
#9
Daniel Tibussek, Felix Distelmaier, Michael Karenfort, Stefani Harmsen, Dirk Klee, Ertan Mayatepek
BACKGROUND: Cerebrospinal fluid (CSF) opening pressure (OP) of ≥28 cm H2O is now considered a diagnostic criterion for Pseudotumor cerebri syndrome (PTCS) in children. However, it has been proposed that a diagnosis of "probable" PTCS can be made with an OP < 28 cm H2O if other diagnostic criteria are met. We report a group of children with probable PTCS. METHODS: Retrospective analysis of 25 children diagnosed with PTCS but with a CSF OP below 28 cm H2O...
October 27, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27818023/multiple-sclerosis-in-belgian-children-a%C3%A2-multicentre-retrospective-study
#10
Helene Verhelst, Liesbeth De Waele, Nicolas Deconinck, Berten Ceulemans, Barbara Willekens, Rudy Van Coster
BACKGROUND: Although the diagnosis of multiple sclerosis (MS) in the paediatric population remains challenging, paediatric-onset MS is increasingly recognized worldwide. METHODS: We report on the clinical and biochemical features of a Belgian multicentre cohort of paediatric MS patients in a national retrospective descriptive study. RESULTS: Twenty one paediatric MS patients from four Belgian University Hospitals were included. In nine patients, onset of MS was before the age of ten years which makes the study cohort of special interest...
October 25, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27908676/effect-of-selective-dorsal-rhizotomy-on-daily-care-and-comfort-in-non-walking-children-and-adolescents-with-severe-spasticity
#11
A I Buizer, P E M van Schie, E A M Bolster, W J van Ouwerkerk, R L Strijers, L A van de Pol, A Stadhouder, J G Becher, R J Vermeulen
BACKGROUND: In non-walking children with severe spasticity, daily care can be difficult and many patients suffer from pain. Selective dorsal rhizotomy (SDR) reduces spasticity in the legs, and therefore has the potential to improve daily care and comfort. AIM: To examine effects of SDR on daily care and comfort in non-walking children with severe spasticity due to different underlying neurological conditions. METHODS: Medical history, changes in daily care and comfort and satisfaction with outcome were assessed retrospectively in non-walking children who underwent SDR in our center, with a mean follow-up of 1y 7m (range 11m-4y 3m)...
October 22, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27836441/stable-cognitive-functioning-with-improved-perceptual-reasoning-in-children-with-dyskinetic-cerebral-palsy-and-other-secondary-dystonias-after-deep-brain-stimulation
#12
Tamsin Owen, Dolapo Adegboye, Hortensia Gimeno, Richard Selway, Jean-Pierre Lin
BACKGROUND: Dystonia is characterised by involuntary movements (twisting, writhing and jerking) and postures. Secondary dystonias are described as a heterogeneous group of disorders with both exogenous and endogenous causes. There is a growing body of literature on the effects of deep brain stimulation (DBS) surgery on the motor function in childhood secondary dystonias, however research on cognitive function after DBS is scarce. METHODS: Cognitive function was measured in a cohort of 40 children with secondary dystonia following DBS surgery using a retrospective repeated measures design...
October 21, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27771228/dyt2-screening-in-early-onset-isolated-dystonia
#13
Miryam Carecchio, Chiara Reale, Federica Invernizzi, Valentina Monti, Simona Petrucci, Monia Ginevrino, Francesca Morgante, Giovanna Zorzi, Federica Zibordi, Anna Rita Bentivoglio, Enza Maria Valente, Nardo Nardocci, Barbara Garavaglia
BACKGROUND: Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases previously grouped under the term "DYT2 dystonia". Positive patients reported so far show focal onset during childhood with subsequent generalization and a slowly progressive course to adulthood. METHODS: 73 patients with isolated dystonia of various distribution, manifesting within 21 years of age, were enrolled in this Italian study and underwent a mutational screening of HPCA gene by means of Sanger sequencing...
October 13, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27707657/the-relationship-of-dystonia-and-choreoathetosis-with-activity-participation-and-quality-of-life-in-children-and-youth-with-dyskinetic-cerebral-palsy
#14
Elegast Monbaliu, Paul De Cock, Lisa Mailleux, Bernard Dan, Hilde Feys
AIM: To relate dystonia and choreoathetosis with activity, participation and quality of life (QOL) in children and youth with dyskinetic Cerebral Palsy (CP). METHODS: Fifty-four participants with dyskinetic CP (mean age 14y6m, SD 4y2m, range 6-22y) were included. The Dyskinesia Impairment Scale (DIS) was used to evaluate dystonia and choreoathetosis. Activity, participation and quality of life (QOL) were assessed with the Gross Motor Function Measure (GMFM), the Functional Mobility Scale (FMS), the Jebsen-Taylor Hand Function Test (JTT), the ABILHAND-Kids Questionnaire (ABIL-K), the Life Habits Kids (LIFE-H) and the Quality of Life Questionnaire for children with CP (CP-QOL)...
September 23, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27707655/the-juvenile-head-trauma-syndrome-deterioration-after-mild-tbi-diagnosis-and-clinical-presentation-at-the-emergency-department
#15
Angelina R A Pikstra, Zwany Metting, Johanna M Fock, Joukje van der Naalt
BACKGROUND: Annually 14.000 children with traumatic brain injury (TBI) are admitted to the Emergency Department (ED) in the Netherlands. Presentation varies and a specific entity comprises the juvenile head trauma syndrome (JHTS) with secondary deterioration after a mild trauma. As outcome of JHTS can be fatal, early recognition is essential. AIM: To outline the epidemiology and clinical features of JHTS, in comparison to paediatric mild TBI patients without JHTS...
September 23, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27707654/can-iq-predict-parent-reported-behavioral-and-emotional-problems-in-children-with-neurological-deficiencies
#16
Janneke C A W Peijnenborgh, Sandra A M van Abeelen, Petra P M Hurks, Annick M Laridon, Sylvia Klinkenberg, Albert P Aldenkamp, Johan S H Vles, Jos G M Hendriksen
OBJECTIVE: The aim of the current study was to investigate whether total intelligence scores (FSIQ) and/or a discrepancy in intelligence can predict behavioral or emotional problems in children with neurological deficiencies. METHOD: The population consists of children with neurological deficiencies (N = 610, ranging from 6 to 17 years), referred due to concerns on the (educational) development of the child to a tertiary outpatient clinic. All children were tested with the Dutch Wechsler Intelligence Scale for Children - third edition (WISC-III-NL)...
September 23, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27653852/focal-status-epilepticus-and-progressive-dyskinesia-a-novel-phenotype-for-glycine-receptor-antibody-mediated-neurological-disease-in-children
#17
D W S Chan, T Thomas, M Lim, S Ling, M Woodhall, A Vincent
BACKGROUND: Antibody-associated disorders of the central nervous system are increasingly recognised in adults and children. Some are known to be paraneoplastic, whereas in others an infective trigger is postulated. They include disorders associated with antibodies to N-methyl-d-aspartate receptor (NMDAR), voltage-gated potassium channel-complexes (VGKC-complex), GABAB receptor or glycine receptor (GlyR). With antibodies to NMDAR or VGKC-complexes, distinct clinical patterns are well characterised, but as more antibodies are discovered, the spectra of associated disorders are evolving...
September 12, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27666466/juvenile-myasthenia-gravis-in-norway-a-nationwide-epidemiological-study
#18
T H Popperud, M I Boldingh, C Brunborg, K W Faiz, A T Heldal, A H Maniaol, K I Müller, M Rasmussen, K Øymar, E Kerty
BACKGROUND: The aim of this study was to assess the incidence rate and prevalence of autoimmune myasthenia gravis (MG) among children in Norway. METHODS: This retrospective population-based study was performed in Norway from January 2012 to December 2013. Cases of juvenile MG (JMG) with onset < 18 years were identified through searches in coding systems of electronic patient records at the 15 main hospitals in Norway from 1989 to 2013. In addition, the acetylcholine receptor antibody database at Haukeland University Hospital and the clinical nationwide MG database at Oslo University Hospital were searched for cases of JMG...
September 10, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27712722/editorial-commentary
#19
Coriene Catsman-Berrevoets
No abstract text is available yet for this article.
November 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27594069/a-major-improvement-in-social-participation-of-two-children-with-cerebral-palsy-by-a-single-botulinum-toxin-injection
#20
Elif Yalcin, Sehim Kutlay, Olcay Ilgu, Mufit Akyuz
No abstract text is available yet for this article.
November 2016: European Journal of Paediatric Neurology: EJPN
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