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Journal of Child Neurology

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https://www.readbyqxmd.com/read/27909013/comparison-of-cerebrospinal-fluid-opening-pressure-in-children-with-demyelinating-disease-to-children-with-primary-intracranial-hypertension
#1
Bethanie Morgan-Followell, Shawn C Aylward
The authors aimed to compare the opening pressures of children with demyelinating disease to children with primary intracranial hypertension. Medical records were reviewed for a primary diagnosis of demyelinating disease, or primary intracranial hypertension. Diagnosis of demyelinating disease was made according to either the 2007 or 2012 International Pediatric Multiple Sclerosis Study Group criteria. Primary intracranial hypertension diagnosis was confirmed by presence of elevated opening pressure, normal cerebrospinal fluid composition and neuroimaging...
November 30, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27888271/investigation-of-the-association-between-motor-stereotypy-behavior-with-fundamental-movement-skills-adaptive-functioning-and-autistic-spectrum-disorder-symptomology-in-children-with-intellectual-disabilities
#2
Joanne L Powell, Lydia Pringle, Matt Greig
Motor stereotypy behaviors are patterned, coordinated, repetitive behaviors that are particularly evident in those with an autistic spectrum disorder and intellectual disabilities. The extent to which motor stereotypy behavior severity is associated with motor skills and maladaptive behavior, measures of adaptive functioning, along with fundamental movement skills and degree of autistic spectrum disorder symptomology is assessed in this preliminary report. Twelve participants, aged 7 to 16 years, with a reported motor stereotypy behavior and either mild or severe intellectual disability comprising developmental or global delay took part in the study...
November 25, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27888270/cerebellar-volume-in-children-with-attention-deficit-hyperactivity-disorder-adhd-replication-study
#3
Aleksandra Wyciszkiewicz, Mikolaj A Pawlak, Krzysztof Krawiec
Attention Deficit Hyperactivity Disorder (ADHD) is associated with altered cerebellar volume and cerebellum is associated with cognitive performance. However there are mixed results regarding the cerebellar volume in young patients with ADHD. To clarify the size and direction of this effect, we conducted the analysis on the large public database of brain images. The aim of this study was to confirm that cerebellar volume in ADHD is smaller than in control subjects in currently the largest publicly available cohort of ADHD subjects...
November 25, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27888269/internal-carotid-artery-pseudoaneurysm-and-ischemic-stroke-secondary-to-retropharyngeal-and-parapharyngeal-abscess-a-case-report-and-review-of-the-literature
#4
Michael W Ruff, Deena M Nasr, James P Klaas, Deborah L Renaud
Internal carotid artery pseudoaneurysm is an uncommon complication of retropharyngeal and parapharyngeal abscess in children. Treatment of the pseudoaneurysm has evolved in recent years from surgical ligation to endovascular techniques. Neurologic sequelae most commonly consist of Horner's syndrome with cerebral ischemia being uncommon. The clinical course of a 2-year-old boy with retropharyngeal abscess complicated by internal carotid artery pseudoaneurysm, is described and the literature is reviewed. A conventional angiogram confirmed the presence of a large pseudoaneurysm with no anterograde flow distal to the pseudoaneurysm and substantial collateral flow across the circle of Willis, with filling of the left anterior and middle cerebral arteries via the anterior and posterior communicating arteries...
November 25, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27885106/publisher-s-notice
#5
(no author information available yet)
No abstract text is available yet for this article.
November 24, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27885105/authors-response-to-the-comments-on-pattern-reversal-visual-evoked-potential-parameters-and-migraine-in-the-teenage-population
#6
EDITORIAL
Jasna Jancic, Igor Petrusic, Vera Pavlovski, Zorica Savkovic, Dragana Vucinic, Zarko Martinovic
No abstract text is available yet for this article.
November 24, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27872179/anti-n-methyl-d-aspartate-nmda-receptor-encephalitis-a-survey-of-treatment-progress-and-prospects-from-pediatric-neurologists
#7
Ilana Kahn, Guy Helman, Adeline Vanderver, Elizabeth Wells
Anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis has been shown to be a treatable form of autoimmune encephalitis, but there remains no standardized approach to immunotherapy. We designed an anonymous survey sent to members of the Child Neurology Society to identify the current practices among child neurologists. A total of 151 pediatric neurologists responded to the survey. With these responses we were able to highlight areas of practice uniformity, including first-line treatment with intravenous immunoglobulin and intravenous methylprednisone and initiation of disease-modifying therapy with rituximab alone...
November 21, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27872178/childhood-activity-on-progression-in-limb-girdle-muscular-dystrophy-2i
#8
Brianna N Brun, Shelley R H Mockler, Katie M Laubscher, Carrie M Stephan, Julia A Collison, M Bridget Zimmerman, Katherine D Mathews
Limb girdle muscular dystrophy 2I is a slowly progressive muscular dystrophy due to mutations in the Fukutin-related protein (FKRP) gene. Clinicians are frequently asked if physical activity is harmful for pediatric patients with limb girdle muscular dystrophy 2I. The primary objective of this study was to determine if there is a relationship between self-reported childhood activity level and motor function and respiratory function in older children and adults with limb girdle muscular dystrophy 2I. We compared retrospective self-reported middle school activity level and sport participation with age at onset of weakness, 10-meter walk test, and forced vital capacity later in life in 41 participants with FKRP mutations...
November 21, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27872177/levetiracetam-for-the-treatment-of-seizures-in-neonatal-hypoxic-ischemic-encephalopathy
#9
Charu Venkatesan, Sarah Young, Mark Schapiro, Cameron Thomas
The objective of this study was to determine the efficacy and safety of levetiracetam in treatment of neonatal seizures due to hypoxic ischemic encephalopathy. Seizures often persist in neonates with hypoxic ischemic encephalopathy despite phenobarbital. A retrospective single-center study was conducted in neonates ≥36 weeks gestation with hypoxic ischemic encephalopathy. A total of 127 neonates were identified born 2008-2015. Clinical seizures occurred in 83 infants. Fifty-one neonates (61%) had cessation of seizures with only phenobarbital...
November 21, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27821512/dopamine-d4-receptor-gene-polymorphism-in-a-sample-of-egyptian-children-with-attention-deficit-hyperactivity-disorder-adhd
#10
Farida ElBaz Mohamed, Tarek Mostafa Kamal, Sally Soliman Zahra, Mona Abdel Hakiem Khfagy, Azza Mohamed Youssef
This study aimed to detect DRD4 receptor gene polymorphisms in attention-deficit hyperactivity disorder (ADHD) children and to correlate their phenotype-genotype. Fifty children with ADHD were diagnosed by Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, criteria and were subjected to Conners Parent Rating Scale. All cases and controls were subjected to history taking, physical examination, IQ assessment, and dopamine receptor D4 (DRD4) exon 3 genotyping. The 7-repeat allele was present only in controls, whereas 2-repeat allele was present in the ADHD children (heterozygous 2-repeat allele in 16% and homozygous in 26% of cases)...
November 7, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27810967/electronic-fetal-monitoring-are-we-asking-the-correct-questions
#11
EDITORIAL
Max Wiznitzer
No abstract text is available yet for this article.
November 3, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27810966/brainstem-low-grade-gliomas-in-children-excellent-outcomes-with-multimodality-therapy
#12
Santhosh A Upadhyaya, Carl Koschmann, Karin Muraszko, Sriram Venneti, Hugh J Garton, Daniel A Hamstra, Cormac O Maher, Bryan L Betz, Noah A Brown, Daniel Wahl, Helmut C Weigelin, Kathleen E DuRoss, Annette S Leonard, Patricia L Robertson
Safe maximal surgical resection is the initial treatment of choice for pediatric brainstem low-grade gliomas. Optimal therapy for incompletely resected tumors or that progress after surgery is uncertain. We reviewed the clinical characteristics, therapy, and outcomes of all children with nontectal brainstem low-grade gliomas treated at the University of Michigan between 1993 and 2013. Median age at diagnosis was 6 years; histology was confirmed in 23 of 25 tumors, 64% were pilocytic astrocytoma. Nineteen patients underwent initial tumor resection; 14/19 received no upfront adjuvant therapy...
November 3, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27798370/scaled-vibratory-feedback-can-bias-muscle-use-in-children-with-dystonia-during-a-redundant-1-dimensional-myocontrol-task
#13
Shanie A Liyanagamage, Matteo Bertucco, Nasir H Bhanpuri, Terence D Sanger
Vibratory feedback can be a useful tool for rehabilitation. We examined its use in children with dystonia to understand how it affects muscle activity in a population that does not respond well to standard rehabilitation. We predicted scaled vibration (ie, vibration that was directly or inversely proportional to muscle activity) would increase use of the vibrated muscle because of task-relevant sensory information, whereas nonscaled vibration would not change muscle use. The study was conducted on 11 subjects with dystonia and 14 controls...
October 25, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27777328/focal-seizures-in-patients-with-scn1a-mutations-response-to-treatment
#14
Christopher L McDonald, Russell P Saneto, Lionel Carmant, Márcio A Sotero de Menezes
The SCN1A gene has been implicated in the etiology of various forms of epilepsy. New research has linked this gene to specific types of epilepsy, all of which present in infancy or early childhood. This study examines the time course and pathology of pediatric patients who have a mutation in the SCN1A gene in order to open a discussion regarding the key trends of this form of epilepsy as well as important clinical considerations in management for patients who present with symptoms relating to the SCN1A mutations...
October 24, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27777327/wiedemann-steiner-syndrome-with-2-novel-kmt2a-mutations-variable-severity-in-psychomotor-development-and-musculoskeletal-manifestation
#15
Jung Min Ko, Jae So Cho, Yongjin Yoo, Jieun Seo, Murim Choi, Jong-Hee Chae, Hye-Ran Lee, Tae-Joon Cho
Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity...
October 24, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27770045/de-novo-tubb2a-variant-presenting-with-anterior-temporal-pachygyria
#16
Lance H Rodan, Christelle Moufawad El Achkar, Gerard T Berry, Annapurna Poduri, Sanjay P Prabhu, Edward Yang, Irina Anselm
TUBB2A is a gene that has recently been reported in association with structural brain abnormalities. Only 3 cases have been reported to date with disparate brain morphologic abnormalities, although all patients have presented with developmental delay and infantile-onset epilepsy. We report a fourth patient with a de novo variant in TUBB2A that is predicted to be pathogenic, presenting with developmental delay, spastic diplegia, exaggerated startle, and anterior temporal pachygyria in the absence of epilepsy...
October 21, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27760875/spinal-muscular-atrophy-type-i-is-it-ethical-to-standardize-supportive-care-intervention-in-clinical-trials
#17
Richard S Finkel, Kathie M Bishop, Robert M Nelson
The natural history of spinal muscular atrophy type I (SMA-I) has changed as improved medical support has become available. With investigational drugs for spinal muscular atrophy now in clinical trials, efficient trial design focuses on enrolling recently diagnosed infants, providing best available supportive care, and minimizing subject variation. The quandary has arisen whether it is ethically appropriate to specify a predefined level of nutritional and/or ventilation support for spinal muscular atrophy type I subjects while participating in these studies...
October 19, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27742862/hypertonia-assessment-tool-reliability-and-validity-in-children-with-neuromotor-disorders
#18
Petra Marsico, Victoria Frontzek-Weps, Julia Balzer, Hubertus J A van Hedel
The Hypertonia Assessment Tool is a 7-item instrument that discriminates spasticity, dystonia, and rigidity on 3 levels: item scores, subtype, and hypertonia diagnosis for each extremity. We quantified the inter- and intrarater reliability using Kappa statistics, Gwet's first-order agreement coefficient (both with 95% confidence interval), and percentage agreement for all levels. For validity, we compared the Hypertonia Assessment Tool subtype with the clinical diagnosis provided by the physicians. Two physiotherapists tested 45 children with neuromotor disorders...
October 14, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27733599/natural-history-of-sanfilippo-syndrome-type-c-in-boyac%C3%A3-colombia-a-neurogenetic-description
#19
Harvy Mauricio Velasco, Yasmin Sanchez, Angela Milena Martin, Luis A Umaña
Mucopolysaccharidosis type III, or Sanfilippo syndrome, is an autosomal recessive disorder characterized by impairment in the degradation of Heparan sulfate. Here the authors describe the natural history of 5 related individuals; all associated through a large pedigree which reports a total of 11 affected members, originally from the Boyacá region in Colombia, diagnosed with MPS IIIC who all harbor a novel mutation in HGSNAT The authors report an unusually high incidence of the disease in this population. The clinical features are similar to previously described patients, although some differences in the degree of severity and end-stage of the disease are seen in this specific group...
October 12, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27702912/frontal-hypoactivation-during-a-working-memory-task-in-children-with-22q11-deletion-syndrome
#20
Waverly Harrell, Ling Zou, Zoe Englander, Stephen R Hooper, Matcheri S Keshavan, Allen Song, Vandana Shashi
Impairments in executive function, such as working memory, are almost universal in children with chromosome 22q11.2 deletion syndrome. Delineating the neural underpinnings of these functions would enhance understanding of these impairments. In this study, children and adolescents with 22q11 deletion syndrome were compared with healthy control participants in a functional magnetic resonance imaging (MRI) study of working memory. When the 2-back condition was contrasted with the 1-back and 0-back conditions, the participants with 22q11 deletion syndrome showed lower activation in several brain areas involved in working memory-notably dorsolateral prefrontal cortex, anterior cingulate, and precuneus...
October 4, 2016: Journal of Child Neurology
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