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European Journal of Paediatric Neurology: EJPN

Michael P Fitzgerald, Adam Reynolds, Cliona Mc Garvey, Gary Norman, Mary D King, Breda C Hayes
OBJECTIVE: To establish the local incidence of hearing loss in newborns with Hypoxic Ischaemic Encephalopathy (HIE) and to identify associated risk factors. STUDY DESIGN: Retrospective Cohort Study. Neonatal Intensive Care Unit (NICU) dual stage hearing screening protocol, including automated otoacoustic emissions (AOAE) and automated auditory brainstem response (AABR) testing. RESULTS: 57 newborns received therapeutic hypothermia for HIE...
October 10, 2018: European Journal of Paediatric Neurology: EJPN
Emma Macdonald-Laurs, Archana Koirala, Philip N Britton, William Rawlinson, Chee Chung Hiew, Jocelynne Mcrae, Russell C Dale, Cheryl Jones, Kristine Macartney, Brendan McMullan, Sekhar Pillai
PURPOSE: Neurological complications of influenza cause significant disease in children. Central nervous system inflammation, the presumed mechanism of influenza-associated encephalopathy, is difficult to detect. Characteristics of children presenting with severe neurological complications of influenza, and potential biomarkers of influenza-associated encephalopathy are described. METHODS: A multi-center, retrospective case-series of children with influenza and neurological complications during 2017 was performed...
September 28, 2018: European Journal of Paediatric Neurology: EJPN
An-Sofie Schoonjans, Shauni De Keersmaecker, Maxime Van Bouwel, Berten Ceulemans
AIM: Sleep problems are often reported in patients with a Dravet Syndrome (DS). In this study we explored the sleep behavior in DS and compared the prevalence of sleep problems with other epilepsy patients. METHODS: An online questionnaire based on the 'Sleep Behavior Questionnaire by Simonds & Parraga (SQ-SP)' was distributed amongst DS parents and a control group (parents from children with epilepsy). Completed questionnaires were evaluated by factor scores and Composite Sleep Index (CSI)...
September 27, 2018: European Journal of Paediatric Neurology: EJPN
Margherita Nosadini, Shekeeb S Mohammad, Irene Toldo, Stefano Sartori, Russell C Dale
BACKGROUND: Available data on mycophenolate mofetil (MMF), azathioprine (AZA) and methotrexate (MTX) for paediatric-onset anti-N-methyl-d-aspartate receptor encephalitis (anti-NMDARE) is limited. METHODS: Systematic literature review on patients treated with MMF/AZA/MTX for paediatric-onset anti-NMDARE, with focus on modes of use, efficacy and safety. RESULTS: 87 patients were included (age at onset median 11 years, range 0.8-18 years; 69% females)...
September 27, 2018: European Journal of Paediatric Neurology: EJPN
Alexis Arzimanoglou, Jose Ferreira, Andrew Satlin, Omar Olhaye, Dinesh Kumar, Shobha Dhadda, Francesco Bibbiani
OBJECTIVE: Evaluate the long-term safety, tolerability, and behavioral effects of adjunctive rufinamide in pediatric patients (≥1 to <4 years old) with inadequately controlled seizures associated with Lennox-Gastaut syndrome (LGS). METHODS: Study 303 ( identifier NCT01405053) was a multicenter, randomized, open-label, Phase III trial. Patients were randomized (2:1) to oral suspension rufinamide (≤45 mg/kg/day) or any other investigator-chosen antiepileptic drug (AED) for a 2-year treatment period...
September 27, 2018: European Journal of Paediatric Neurology: EJPN
Lisa Bartha-Doering, Astrid Novak, Kathrin Kollndorfer, Anna-Lisa Schuler, Gregor Kasprian, Georg Langs, Ernst Schwartz, Florian Ph S Fischmeister, Daniela Prayer, Rainer Seidl
Brain plasticity has often been quoted as a reason for the more favorable outcome in childhood stroke compared to adult stroke. We investigated the relationship between language abilities and language localization in childhood stroke. Seventeen children and adolescents with left- or right-sided ischemic stroke and 18 healthy controls were tested with a comprehensive neurolinguistic test battery, and the individual neural representation of language was measured with an fMRI language paradigm. Overall, 12 of 17 stroke patients showed language abilities below average, and five patients exhibited impaired language performance...
September 25, 2018: European Journal of Paediatric Neurology: EJPN
Dhanalakshmi Angappan, Jitendra K Sahu, Prahbhjot Malhi, Pratibha Singhi
West syndrome is a distinct, infantile onset, epileptic encephalopathy, associated with poor neurodevelopmental outcome. The present study was designed as a randomized, open-label, pilot study to evaluate the safety, feasibility, and effectiveness of oral zonisamide therapy in comparison with adrenocorticotropic hormone therapy in infants with West syndrome. Thirty infants with West syndrome were randomized to receive treatment with either synthetic, intramuscular adrenocorticotropic hormone (30-60 IU) or oral zonisamide (4-25 mg/kg/day)...
September 22, 2018: European Journal of Paediatric Neurology: EJPN
Judith M Lionarons, Danique M J Hellebrekers, Sylvia Klinkenberg, Catharina G Faber, Johan S H Vles, Jos G M Hendriksen
Attention-deficit hyperactivity disorder (ADHD) is a common comorbidity in Duchenne muscular dystrophy (DMD). Until now, treatment with methylphenidate (MPH) has never been systematically assessed and described in this population. Our aim was to evaluate the effectiveness and safety of short acting MPH for learning problems in males with DMD and ADHD. Neuropsychological (cognition and behavior) and medical data of a sample of ten males (mean age = 8.1 years, range 6.3-9.8) with DMD and an ADHD diagnosis was retrospectively analyzed at baseline (T0; without MPH), short-term follow-up (T1; with MPH; mean interval T0-T1 = 8...
September 21, 2018: European Journal of Paediatric Neurology: EJPN
J Toulouse, M Hully, D Brossier, M-L Viallard, L de Saint Blanquat, S Renolleau, M Kossorotoff, I Desguerre
BACKGROUND: In Pediatric Intensive Care Unit (PICU) two types of population require the intervention of neuropediatricians (NP): chronic brain diseases' patients who face repetitive and prolonged hospitalizations, and patients with acute brain failure facing the risk of potential neurologic sequelae, and both conditions may result in a limitation of life-sustaining treatments (LLST) decision. OBJECTIVE: To assess NP's involvement in LLST decisions within the PICU of a tertiary hospital...
September 14, 2018: European Journal of Paediatric Neurology: EJPN
Franziska Schoeppe, Andrea Rossi, Johannes Levin, Maximilian Reiser, Sophia Stoecklein, Birgit Ertl-Wagner
BACKGROUND: Patients with Down syndrome carry a third copy of the amyloid precursor protein gene, which is localized on chromosome 21. Consequently, these patients are prone to develop early-onset Alzheimer disease and cerebral amyloid angiopathy. Post-mortem studies suggest increased amyloid deposition to be already detectable in children with Down syndrome. The aim of our study was to evaluate if amyloid-related changes in pediatric Down syndrome patients can be detected in vivo using MRI biomarkers of cerebral microbleeds and cortical superficial siderosis...
September 12, 2018: European Journal of Paediatric Neurology: EJPN
Pinelopi Dragoumi, Finbar O'Callaghan, Dimitrios I Zafeiriou
Tuberous sclerosis complex is a dominantly inherited genetic disorder of striking clinical variability. It is caused by mutations in either TSC1 or TSC2 gene, which regulate cell growth and proliferation by inhibition of mTORC1 signaling. TS is characterized by the development of benign tumors in many tissues and organs and its neurological manifestations include epilepsy, autism, cognitive and behavioral dysfunction, and giant cell tumors. With mechanism-based mTOR inhibitors therapy now available for many of its manifestations, early diagnosis of TSC is very important in order to offer appropriate care, long-term surveillance and parental counseling...
September 12, 2018: European Journal of Paediatric Neurology: EJPN
Leen Att De Wispelaere, Sabine Ouwehand, Marielle Olsthoorn, Paul Govaert, Liesbeth S Smit, Rogier Cj de Jonge, Maarten H Lequin, Irwin K Reiss, Jeroen Dudink
OBJECTIVE: The aim was to establish any differences in the predictive value of EEG and MRI for outcome in infants treated and not-treated with therapeutic hypothermia (HT) for perinatal asphyxia. We hypothesize that they are equally predictive and that combining both has the highest predictive value. STUDY DESIGN: We retrospectively compared data of infants with hypoxic-ischemic encephalopathy (HIE) who received HT (n = 45) between September 2009 and December 2013 with those of infants with HIE born between January 2004 and August 2009, before HT was available (NT, n = 37)...
September 12, 2018: European Journal of Paediatric Neurology: EJPN
Alessandro Amaddeo, Livio De Sanctis, Jorge Olmo Arroyo, Sonia Khirani, Nadia Bahi-Buisson, Brigitte Fauroux
INTRODUCTION: Rett syndrome (RS) is a severe neurodevelopment disorder associated with abnormal breathing during wakefulness and disturbed nocturnal behaviour. Breathing abnormalities during daytime have been extensively reported but polysomnographic (PSG) findings have been poorly studied. MATERIALS AND METHODS: Consecutive patients with RS carrying distinct mutations in MECP2 gene, who underwent a PSG between October 2014 and January 2018, were included in the study...
September 12, 2018: European Journal of Paediatric Neurology: EJPN
Christina Engel Hoei-Hansen, Bjarne Laursen, Jens Langhoff-Roos, Gija Rackauskaite, Peter Uldall
AIM: To analyse trends in prevalence and severity of cerebral palsy (CP) in Denmark in birth years 1999-2007 and compare with previous periods. METHOD: Data has been collected uniformly in the Danish cerebral palsy national register nationwide since 1995. Rates in the time periods 1999-2001, 2002-2004 and 2005-2007 covering 585,393 births were analysed by gestational age and subtypes. RESULTS: Total number of CP cases in the period was 1165...
September 6, 2018: European Journal of Paediatric Neurology: EJPN
Eduardo F Tizzano, Dimitrios Zafeiriou
With the recent advances in spinal muscular atrophy therapies, the complete scenario of standard of care and following up is changing not only in the clinical field with new phenotypes emerging but also with new expectations for patients, caregivers and health providers. The actual evidence indicates that early intervention and treatment is crucial for better response and prognosis. Knowledge of the prenatal and pre-symptomatic postnatal stages of the disease are becoming essential to consider the opportunities of timely diagnosis and to decide the earliest therapeutic intervention...
September 3, 2018: European Journal of Paediatric Neurology: EJPN
Zvi Leibovitz, Laurent Guibaud, Catherine Garel, Mona Massoud, Katrin Karl, Gustavo Malinger, Karina K Haratz, Liat Gindes, Mordechai Tamarkin, Liat Ben-Sira, Dorit Lev, Josef Shalev, Marie Brasseur-Daudruy, Carlos Andrés Contreras Gutierrez de Piñeres, Tally Lerman-Sagie
OBJECTIVES: To describe a unique posterior fossa neuroimaging characteristic of prenatal PHACES syndrome (PS): unilateral cerebellar hypoplasia (UCH) and ipsilateral posterior fossa (PF) cyst communicating with an asymmetrically distended 4th ventricle. METHODS: The registries of seven prenatal diagnosis centers were searched for cases with PF findings and a postnatal diagnosis of PS. All records were evaluated for ultrasound and MRI findings and the postnatal outcome...
September 1, 2018: European Journal of Paediatric Neurology: EJPN
Nicola Tambasco, Federico Paolini Paoletti, Giulia Prato, Maria Margherita Mancardi, Paolo Prontera, Lucio Giordano, Salvatore Grosso, Antonino Romeo, Francesca Pinto, Salvatore Savasta, Cinzia Peruzzi, Michele Romoli, Pasquale Striano, Alberto Verrotti, Vincenzo Belcastro
INTRODUCTION: Shapiro syndrome (SS) is characterized by spontaneous recurrent episodes of hypothermia, hyperhidrosis and corpus callosum (CC) agenesis. Less than 60 cases have been reported to date and the pathogenic mechanism as well as the prognosis of this syndrome are still debated. We describe the clinical features and long-term follow-up of a pediatric cohort of SS patients. METHODS: We collected 13 (10 novel) pediatric cases of SS and report their long-term follow-up and neurological outcome...
August 29, 2018: European Journal of Paediatric Neurology: EJPN
Ruxandra-Iulia Milos, Martin Szimacsek, Fritz Leutmezer, Kevin Rostasy, Astrid Blaschek, Michael Karenfort, Mareike Schimmel, Martin Pritsch, Karin Storm Van's Gravesande, Michael Weber, Michaela Schmoeger, Rainer Seidl, Daniela Prayer, Barbara Kornek
BACKGROUND: The diagnosis of multiple sclerosis (MS) both in children and adults is based on clinical and magnetic resonance imaging (MRI) features according to the McDonald criteria. Little is known about differences in the presentation between pre-pubertal children, adolescents, and adult patients at disease onset. OBJECTIVE: To compare (1) the clinical, cerebrospinal fluid (CSF), and MRI characteristics, and (2) the diagnostic performance of the 2010 McDonald criteria between pre-pubertal, adolescent, and adult patients with a clinically isolated syndrome (CIS)...
August 28, 2018: European Journal of Paediatric Neurology: EJPN
T Michael Yates, Mohnish Suri, Archana Desurkar, Gaetan Lesca, Carina Wallgren-Pettersson, Trine B Hammer, Ashok Raghavan, Anne-Lise Poulat, Rikke S Møller, Ann-Charlotte Thuresson, Meena Balasubramanian
We aim to further delineate the phenotype associated with pathogenic variants in the SLC35A2 gene, and review all published literature to-date. This gene is located on the X chromosome and encodes a UDP-galactose transporter. Pathogenic variants in SLC35A2 cause a congenital disorder of glycosylation. The condition is rare, and less than twenty patients have been reported to-date. The phenotype is complex and has not been fully defined. Here, we present a series of five patients with de novo pathogenic variants in SLC35A2...
August 27, 2018: European Journal of Paediatric Neurology: EJPN
Federica Ricci, Chiara Brusa, Francesca Rossi, Enrica Rolle, Valeria Placentino, Angela Berardinelli, Veronica Pagliardini, Francesco Porta, Marco Spada, Tiziana Mongini
BACKGROUND: Pompe disease (PD) is a rare condition caused by mutations in gene encoding for the enzyme alpha-glucosidase, resulting in an abnormal intracellular accumulation of glycogen. The disease clinical spectrum ranges from severe infantile forms to adult-onset forms with minor limitations. Since 2000 enzyme replacement therapy (ERT) is available and disease natural history has changed, with prolonged survival and evidence of myopathic features. METHODS: In this study, we monitored disease progression up to three years in eight young patients with PD...
August 18, 2018: European Journal of Paediatric Neurology: EJPN
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