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Tzipi Horowitz-Kraus, Rola Farah, Mark DiFrancesco, Jennifer Vannest
Story listening in children relies on brain regions supporting speech perception, auditory word recognition, syntax, semantics, and discourse abilities, along with the ability to attend and process information (part of executive functions). Speed-of-processing is an early-developed executive function. We used functional and structural magnetic resonance imaging (MRI) to demonstrate the relationship between story listening and speed-of-processing in preschool-age children. Eighteen participants performed story-listening tasks during MRI scans...
October 21, 2016: Neuropediatrics
Nele Stahlmann, Nora Eisemann, Ute Thyen, Egbert Herting, Marion Rapp
Background Little is known about the psychosocial development and health-related quality of life (HRQOL) of extremely preterm infants once they are adolescents. Methods The regional population-based study cohort included 90 extremely premature infants (< 27(+0) gestational weeks) born between January 1997 and December 1999 in the German state of Schleswig-Holstein. In addition to a neurological and cognitive Wechsler Intelligence Scale for Children, 4th edition assessment, self- and parent-reported psychological problems (Strengths and Difficulties Questionnaire), and health-related quality of life (KINDL(R)) were obtained and compared with a general population of 3,737 adolescents using data from a German Health Interview and Examination Survey for Children and Adolescents (KiGGS survey 2003-2006, Robert Koch Institute, Germany)...
October 4, 2016: Neuropediatrics
Yilmaz Yildiz, Emine Pektas, Aysegul Tokatli, Goknur Haliloglu
Hereditary dopamine transporter deficiency syndrome (DTDS) is a neurotransmitter disorder caused by a defect in the neuronal uptake of dopamine. To date, 20 patients are reported in the literature, and we present 2 additional patients with DTDS harboring novel homozygous SLC6A3 gene mutations. Patient A is an 8-month-old male with neonatal-onset hypotonia, who developed orolingual dyskinetic movements and oculogyric crises after 4 months of age, with evolution to status dystonicus episodes. Patient B is a 4-year-old male who also had hypotonia since birth, with additional severe limb contractions and oculogyric crises after the age of 3 months, with a misdiagnosis of epileptic encephalopathy...
September 30, 2016: Neuropediatrics
Christoph Kuenzle
No abstract text is available yet for this article.
September 27, 2016: Neuropediatrics
Mehmet Canpolat, Hakan Gumus, Zubeyde Gunduz, Ruhan Dusunsel, Sefer Kumandas, Ayşe Kaçar Bayram, Sibel Yel, Hatice Gamze Poyrazoglu, Kenan Yilmaz, Selim Doganay, Ali Yikilmaz, Munis Dundar, Huseyin Per
Background Familial Mediterranean fever (FMF) is an inherited inflammatory disorder characterized by attacks of fever with polyserositis. Objective The purpose of this study was to evaluate pediatric patients with FMF who had central nervous system (CNS) findings. Materials and Methods Our medical records database for 2003 to 2014 was screened retrospectively. In total, 104 patients with FMF were identified, 22 of whom had undergone neurological examination for CNS symptoms. Results Neurological findings included headache in 16 patients (72...
September 22, 2016: Neuropediatrics
John H Livingston, Yanick J Crow
The Aicardi-Goutières syndrome (AGS) was first described in 1984, and over the following years was defined by the clinical and radiological features of an early onset, severe, neurologic disorder with intracranial calcification, leukoencephalopathy, and cerebral atrophy, usually associated with a cerebrospinal fluid (CSF) pleocytosis and elevated CSF interferon α activity. It is now recognized that mutations in any of the following seven genes may result in the classical AGS phenotype: TREX1 (AGS1), RNASEH2A (AGS2), RNASEH2B (AGS3), RNASEH2C (AGS4), SAMHD1 (AGS5), ADAR1 (AGS6), and IFIH1 (AGS7)...
September 19, 2016: Neuropediatrics
Stella Lilles, Inga Talvik, Klari Noormets, Ulvi Vaher, Katrin Õunap, Tiia Reimand, Valentin Sander, Pilvi Ilves, Tiina Talvik
Cyclin-dependent kinase-like 5 (CDKL5) gene mutations have mainly been found in females with early infantile epileptic encephalopathy (EIEE), severe intellectual disability, and Rett-like features. To date, only 22 boys have been reported, presenting with far more severe phenotypic features. We report the first cases of CDKL5 gene-related EIEE in Estonia diagnosed using panels of epilepsy-associated genes and describe the phenotype-genotype correlations in three male and one female patient. One of the mutations, identified in a male patient, was a novel de novo hemizygous frameshift mutation (NM_003159...
September 6, 2016: Neuropediatrics
William L Nyhan, Jon A Gangoiti
Objective Orotic aciduria and deficiency of uridine monophosphate synthetase have been observed in a patient, studied over 10 years, who had no megaloblastic anemia. Excretion of orotic acid and orotidine were 8.24 and 0.52 mmol/mol of creatinine. The ratio of 15.85 differed appreciably from that of 6 patients reported with no megaloblastic anemia. Methods The analysis of orotidine by gas chromotography mass spectrometry was conducted. Conclusion Patients with orotic aciduria with and without megaloblastic anemia cannot be distinguished by ratio of orotic acid to orotidine...
August 30, 2016: Neuropediatrics
Sietske H Kevelam, Marjan E Steenweg, Siddharth Srivastava, Guy Helman, Sakkubai Naidu, Raphael Schiffmann, Susan Blaser, Adeline Vanderver, Nicole I Wolf, Marjo S van der Knaap
Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily affecting myelin of the central nervous system. At that time, a limited number of such disorders and no associated gene defects were known. The majority of the leukodystrophy patients remained without a specific diagnosis. In the following two decades, magnetic resonance imaging pattern recognition revolutionized the field, allowing the definition of numerous novel leukodystrophies. Their genetic defects were usually identified through genetic linkage studies...
August 26, 2016: Neuropediatrics
Ayşe Kacar Bayram, Hüseyin Per, Sevda Ismailoğullari, Mehmet Canpolat, Hakan Gumus, Murat Aksu
Objective Narcolepsy is a chronic sleep disorder characterized by excessive daytime sleepiness, cataplexy, hypnagogic and/or hypnopompic hallucinations, and sleep paralysis. It is one of the most important causes of excessive daytime sleepiness in the pediatric population. The aim of this study is to present the clinical and laboratory findings, and treatment results of pediatric patients with narcolepsy. Materials and Methods We studied five unrelated consecutive children with narcolepsy, focusing on clinical and laboratory features, the therapy and outcome over the 33-month follow-up period...
August 26, 2016: Neuropediatrics
Alessandro Parodi, Luca A Ramenghi, Mariya Malova, Domenico Tortora, Mariasavina Severino, Giovanni Morana, Andrea Rossi
Background Cerebellar hemorrhage is a complication of extreme prematurity with a significant impact on the neurodevelopmental outcome. It has been shown that cerebellar hemorrhage is associated with a reduction in the anteroposterior diameter of the pons on the midline sagittal plane at term-equivalent age, suggesting that cerebellar injury may impair overall pons development in premature infants. Objective This study stemmed from an incidental observation of crossed pontine hemiatrophy in a preterm infant with a history of unilateral massive cerebellar bleeding...
August 23, 2016: Neuropediatrics
Florian Stehling, Katharina Alfen, Christian Dohna-Schwake, Uwe Mellies
Background In pediatric neuromuscular disorders (NMD), respiratory muscle weakness parallels respiratory failure. The objectives of this study are (1) to evaluate respiratory muscle capacity in neuromuscular children and (2) to assess the relationship between vital capacity, respiratory muscle performance, and alveolar ventilation during sleep and wakefulness. Methods Inspiratory vital capacity (IVC), peak inspiratory pressure (PIP), mouth occlusion pressure (P0.1), and noninvasive tension-time index of the respiratory muscles (TTImus) were studied in 80 NMD subjects (12...
August 23, 2016: Neuropediatrics
Svetlana Gataullina, Julia Lauer-Zillhardt, Anna Kaminska, Louise Galmiche-Rolland, Nadia Bahi-Buisson, Clément Pontoizeau, Chris Ottolenghi, Olivier Dulac, Catherine Fallet-Bianco
We report the cases of a brother and a sister of nonconsanguineous parents who developed progressive microcephaly and had tremor, irritability, spasticity, startle reflexes, and permanent erratic myoclonus since birth. Focal clonic seizures, status epilepticus, and infantile spasms appeared later, during the first months of life, while erratic myoclonic jerks persisted. Electroencephalogram initially showed multifocal spikes that evolved into modified hypsarrhythmia and then discontinuous activity, evoking the progressive nature of the condition...
August 14, 2016: Neuropediatrics
Gill Nilsson, Elisabeth Fernell, Thomas Arvidsson, Brian Neville, Ingrid Olsson, Christopher Gillberg
A questionnaire about any type of seizures was distributed to parents at the children's 4-year health surveillance at Child Healthcare Centers in Gothenburg, Sweden, to analyze the prevalence of febrile seizures (FS), epilepsy, and other paroxysmal attacks. Parents who reported any kind of seizures in their child were subsequently contacted by telephone to confirm the information given and to invite the child to a clinical assessment. In addition, hospital registers and individual records were checked of the appropriate age group as regards a diagnosis of epilepsy or febrile seizures...
August 14, 2016: Neuropediatrics
Georgia Ramantani
No abstract text is available yet for this article.
October 2016: Neuropediatrics
Bernhard Schmitt
No abstract text is available yet for this article.
October 2016: Neuropediatrics
Emmanuelle A D Schindler, Xiaoyue M Guo, Matthew Schrag, Shivani Ghoshal, Michael L Schilsky, Lauren A Beslow
No abstract text is available yet for this article.
October 2016: Neuropediatrics
Georgia Ramantani
No abstract text is available yet for this article.
October 2016: Neuropediatrics
Anna Lorenzen, Marko Wilke, Michael Alber, Monika Milian, Antje Bornemann, Ulrike Ernemann, Sabine Rona
We report on a girl with progressive left frontal tissue destruction starting at the age of almost 8 years. She manifested acutely with epileptic seizures accompanied by Broca aphasia as well as transient right hemiparesis. Due to refractory epilepsy developing over the next years, which originated from the left frontal lobe, the decision was made to proceed to epilepsy surgery. By then, her language functions had recovered despite progressive left frontal tissue-destruction, raising the possibility of a hemispheric shift of language...
October 2016: Neuropediatrics
Carlotta Spagnoli, Stefano Seri, Elena Pavlidis, Silvia Mazzotta, Annalisa Pelosi, Francesco Pisani
Background Phenobarbital is the first-line choice for neonatal seizures treatment, despite a response rate of approximately 45%. Failure to respond to acute anticonvulsants is associated with poor neurodevelopmental outcome, but knowledge on predictors of refractoriness is limited. Objective To quantify response rate to phenobarbital and to establish variables predictive of its lack of efficacy. Methods We retrospectively evaluated newborns with electrographically confirmed neonatal seizures admitted between January 1999 and December 2012 to the neonatal intensive care unit of Parma University Hospital (Italy), excluding neonates with status epilepticus...
October 2016: Neuropediatrics
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