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European Journal of Paediatric Neurology: EJPN

Peter Weber, Rahel Erlacher
No abstract text is available yet for this article.
March 13, 2018: European Journal of Paediatric Neurology: EJPN
Mirjam N Landgraf, Lucia Albers, Birte Rahmsdorf, Katharina Vill, Lucia Gerstl, Michaela Lippert, Florian Heinen
OBJECTIVE: The objective of our study was to evaluate the knowledge about fetal alcohol spectrum disorders (FASD) and the implementation of the German guideline for FASD among different professionals in the health and social system and among parents with children with FASD. METHODS: A questionnaire about FASD, containing 20 items, was sent by post to all children's hospitals (n = 287), all hospitals for child and adolescent psychiatry (n = 173), all social paediatric centres (n = 162), all neuropaediatricians (n = 129) and all youth welfare offices (n = 672) in Germany...
March 2, 2018: European Journal of Paediatric Neurology: EJPN
Mohamed Almuqbil, Michael J Rivkin, Masanori Takeoka, Edward Yang, Lance H Rodan
GLUT1 deficiency syndrome (GLUT1DS) is a well described neurometabolic disorder that results from impaired glucose transport into the central nervous system. GLUT1DS classically presents with infantile-onset epilepsy, progressive microcephaly, developmental delay, ataxia, dystonia, and spasticity, but a minority of patients may manifest with paroxysmal non-epileptic phenomena including hemiparesis (Wang et al., 2002). We report for the first time cerebral perfusion changes during an acute episode of hemiparesis in a 9 year old child with GLUT1DS...
February 19, 2018: European Journal of Paediatric Neurology: EJPN
Yannay Khaikin, Sarah Sidky, Jose Abdenur, Arnaud Anastasi, Diana Ballhausen, Sabrina Buoni, Alicia Chan, David Cheillan, Nathalie Dorison, Alice Goldenberg, Jennifer Goldstein, Floris C Hofstede, Marie-Line Jacquemont, Dwight D Koeberl, Laurence Lion-Francois, Allan Meldgaard Lund, Karine Mention, Helen Mundy, Declan O'Rourke, Gaele Pitelet, Miquel Raspall-Chaure, Maria Tassini, Thierry Billette de Villemeur, Monique Williams, Gajja S Salomons, Saadet Mercimek-Andrews
PURPOSE: Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder caused by pathogenic variants in GAMT. Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorder. Treatment consists of creatine, ornithine and arginine-restricted diet. We initiated an international treatment registry using Research Electronic Data Capture (REDCap) software to evaluate treatment outcome. METHODS: Physicians completed an online REDCap questionnaire...
February 16, 2018: European Journal of Paediatric Neurology: EJPN
Francesco Pisani, Antonio Percesepe, Carlotta Spagnoli
Seizures are more frequent in newborns than in any other period of life. In most cases they are due to acute dysfunction of the central nervous system; however some can be true epileptic disorders with an early onset. Although rare, diagnosis of neonatal-onset epilepsies is rising as genetic testing increases. The spectrum of clinical severity associated with specific genes can vary widely with difficulties in providing genotype-phenotype correlations. Therefore, clinicians should strive in order to clearly delineate the clinical features associated with pathogenic genetic variants with the aim to guide the increasing use of genetic testing and improve clinical management...
February 16, 2018: European Journal of Paediatric Neurology: EJPN
Bernadette Gillick, Tonya Rich, Samuel Nemanich, Chao-Ying Chen, Jeremiah Menk, Bryon Mueller, Mo Chen, Marcie Ward, Gregg Meekins, Tim Feyma, Linda Krach, Kyle Rudser
We investigated the safety, feasibility, and efficacy of transcranial direct current stimulation (tDCS) combined with constraint-induced movement therapy (CIMT) in children and young adults with unilateral cerebral palsy. Twenty participants were randomized to receive active or sham tDCS. The intervention consisted of 10 consecutive weekday sessions of tDCS applied to the non-lesioned hemisphere (20 min) concurrently with CIMT (120 min). Participants, caregivers, and interventionists were blinded to group assignment...
February 11, 2018: European Journal of Paediatric Neurology: EJPN
Anna Papadopoulou, Argyrios Dinopoulos, George Koutsodontis, Roser Pons, Pelagia Vorgia, Vasiliki Koute, Athanassios Vratimos, Dimitrios Zafeiriou
Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, including the brain, heart, skin and kidneys. Seizures, autism, developmental and behavioral delay, as well as non-neurological phenotypic findings, are suggestive of TSC. The identification of one pathogenic mutation in either the TSC1 or TSC2 genes is considered to be an independent diagnostic criterion...
February 9, 2018: European Journal of Paediatric Neurology: EJPN
Pablo E Brockmann, Felipe Damiani, Eduardo Pincheira, Francisca Daiber, Sergio Ruiz, Francisco Aboitiz, Raffaele Ferri, Oliviero Bruni
STUDY OBJECTIVES: To assess spindle activity as possible markers for neurocognitive consequences in children with mild obstructive sleep apnea. METHODS: Children aged 6-11 years diagnosed with mild OSA (i.e., an apnea hypopnea index <5.0) were recruited and compared with age and gender-matched healthy controls. Polysomnographic recordings were analyzed for sleep microstructure and spindle activity. All children completed also an intelligence test battery (i.e...
February 9, 2018: European Journal of Paediatric Neurology: EJPN
V A Bach, M P Neininger, U P Spindler, L C Hotopp, F Hornemann, S Syrbe, A Merkenschlager, W Kiess, M K Bernhard, T Bertsche, A Bertsche
BACKGROUND: The main source of knowledge on adverse drug events (ADE) are physicians' reports in controlled clinical trials. In contrast, little is known about the parents' perception of ADE of anticonvulsants their children receive. METHODS: After approval by the local ethics committee, we performed a survey in a neuropediatric outpatient clinic of a university hospital. Based on a structured questionnaire, we interviewed parents of children with current anticonvulsant treatment regarding (i) their fears about potential ADE, (ii) experienced ADE according to parents, and (iii) implications of ADE on the child's life...
February 9, 2018: European Journal of Paediatric Neurology: EJPN
Emanuela Pagliano, Giovanni Baranello, Riccardo Masson, Maria Foscan, Maria Teresa Arnoldi, Alessia Marchi, Giorgia Aprile, Chiara Pantaleoni
The huge contribution of advances in the pediatric neurosciences, improvements in clinical practice, and new therapeutic options, has led to the development of new models of treatment and rehabilitation for dystonia in the last decade. It is now generally agreed that a multidimensional therapeutic approach is needed for children with motor disorders, whose motor function-conceived as a complex perceptive, motor and cognitive process - is impaired at a crucial time in their development, with a fall out on how their various adaptive functions evolve...
February 8, 2018: European Journal of Paediatric Neurology: EJPN
Yael Hacohen, Angela Vincent
No abstract text is available yet for this article.
February 6, 2018: European Journal of Paediatric Neurology: EJPN
Giulia Pascolini, Emanuele Agolini, Silvia Majore, Antonio Novelli, Paola Grammatico, Maria Cristina Digilio
A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause. We report on two children, displaying intellectual disability (ID) and peculiar congenital eyes anomalies, both carrying a de novo nonsense mutation in the ADNP gene. The review of present and literature reports, suggests that the diagnosis of HVDAS should be suspected in patients with ID accompanied by behavioral features in the Autism Spectrum Disorder and distinctive craniofacial phenotype...
February 3, 2018: European Journal of Paediatric Neurology: EJPN
Kristina Tedroff, Gustaf Befrits, Carl Johan Tedroff, Stefan Gantelius
BACKGROUND AND OBJECTIVES: Children with cerebral palsy (CP) are routinely treated with botulinum toxin A (BoNT-A). Two non dose-equivalent and differently priced products, Botox and Dysport are used. Depending on the conversion one of the products is considerably cheaper. However, the dose conversion factors studied to date have varied widely and relevant studies have not included children. Our objective here was to compare the efficacy and health economics of the switch from Botox to Dysport in children with CP when conversion was set to 1:2...
February 3, 2018: European Journal of Paediatric Neurology: EJPN
Federica Zibordi, Zorzi Giovanna, Carecchio Miryam, Nardocci Nardo
The terms Pediatric Autoimmune Neuropsychiatric disorders associated with streptococcal infections (PANDAS), Pediatric acute-onset neuropsychiatric Syndrome (PANS), and Childhood Acute Neuropsychiatric Symptoms (CANS) have been used to describe certain acute onset neuropsychiatric pediatric disorders. This clinical characteristic was unusually abrupt onset of obsessive compulsive symptoms and/or severe eating restrictions and concomitant cognitive, behavioral or neurological symptoms. Because the CANS/PANS criteria define a broad spectrum of neuropsychiatric conditions, the syndrome is presumed to result from a variety of disease mechanisms and to have multiple etiologies, ranging from postinfectious autoimmune and neuroinflammatory disorders to toxic, endocrine or metabolic disorders...
February 1, 2018: European Journal of Paediatric Neurology: EJPN
Fatema Al Amrani, Jaclyn Marcovitz, Priscille-Nice Sanon, May Khairy, Christine Saint-Martin, Michael Shevell, Pia Wintermark
AIM: To determine whether an MRI scoring system, which was validated in the pre-cooling era, can still predict the neurodevelopmental outcome of asphyxiated newborns treated with hypothermia at 2 years of age. PATIENTS AND METHOD: We conducted a retrospective cohort study of asphyxiated newborns treated with hypothermia. An MRI scoring system, which was validated in the pre-cooling era, was used to grade the severity of brain injury on the neonatal brain MRI. Their neurodevelopment was assessed around 2 years of age; adverse outcome included cerebral palsy, global developmental delay, and/or epilepsy...
January 31, 2018: European Journal of Paediatric Neurology: EJPN
Gaetano Terrone, Giuseppina Vitiello, Ennio Del Giudice
No abstract text is available yet for this article.
January 31, 2018: European Journal of Paediatric Neurology: EJPN
Alan Leviton, Elizabeth N Allred, Raina N Fichorova, T Michael O'Shea, Lynn A Fordham, Karl K C Kuban, Olaf Dammann
AIM: To assess to what extent the blood concentrations of proteins with neurotrophic and angiogenic properties measured during the first postnatal month convey information about the risk of sonographically-identified brain damage among very preterm newborns. METHODS: Study participants were 1219 children who had a cranial ultrasound scan during their stay in the intensive care nursery and blood specimens collected on 2 separate days at least a week apart during the first postnatal month...
January 31, 2018: European Journal of Paediatric Neurology: EJPN
Carlotta Spagnoli, Rosario Pascarella, Carlo Fusco
No abstract text is available yet for this article.
January 31, 2018: European Journal of Paediatric Neurology: EJPN
Camilla Caporali, Sabrina Signorini, Valentina De Giorgis, Anna Pichiecchio, Orsetta Zuffardi, Simona Orcesi
FOXG1-related syndrome is a developmental encephalopathy with a high phenotypic variability. A movement disorder presenting at onset is one of the main features, along with microcephaly and severe psychomotor delay without regression. Specific brain MRI findings facilitate the diagnosis. We report three cases of FOXG1-related syndrome, focusing on clinical onset, brain MRI and evolution over time in order to identify common features despite the three different underlying genotypes (14q12 deletion including the FOXG1 gene, FOXG1 intragenic mutation, 14q12 deletion including PRKD1 and a region regulating FOXG1 expression)...
January 29, 2018: European Journal of Paediatric Neurology: EJPN
Chiara Reale, Celeste Panteghini, Miryam Carecchio, Barbara Garavaglia
Next-Generation Sequencing (NGS) is a group of new methods that allow sequencing a variable number of known genes (targeted resequencing) or even the whole human genome (whole genome sequencing-WGS) and have contributed to an exponential genetic knowledge growth, especially in rare diseases, in the past few years. Since 2015, in the Molecular Neurogenetics Unit of Neurological Institute "Carlo Besta", some gene panels have become available to screen all the known genes associated with Movement Disorders (MD) in children and adults as a diagnostic package...
January 29, 2018: European Journal of Paediatric Neurology: EJPN
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