Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation
This study broadens the clinical phenotype of hereditary motor and sensory neuropathy due to MPZ mutation and emphasises the difficulty of achieving an accurate genetic diagnosis in a sporadic patient to provide an appropriate pharmacologic treatment. (Source: Journal of Child Neurology)
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Lupo, V., Pascual-Pascual, S. I., Sancho, P., Calpena, E., Gutierrez-Molina, M., Mateo-Martinez, G., Espinos, C., Arriola-Pereda, G. Tags: Brief Communication Source Type: research
Massive Soft Tissue Neurofibroma (Elephantiasis Neuromatosa): Case Report and Review of Literature
The authors review the literature on massive soft tissue neurofibroma. The methods included a review of 71 reports (PubMed search 1929-2012) with a total of 91 massive soft tissue neurofibroma patients and illustration of clinical and radiological progression of massive soft tissue neurofibroma on a patient with neurofibromatosis type 1. The mean age at initial examination was 21 years. Tumor onset was mostly in childhood years. The commonest affected body segment was the lower extremity (46%), followed by head/neck (30%). Surgical management was pursued in the majority of cases (79%). Bleeding was a common complication (2...
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Pinheiro, F. S., Rothner, A. D., Moodley, M., Zahka, K. G. Tags: Topical Review Article Source Type: research
Predictors of Abnormal Neuroimaging of the Brain in Children With Epilepsy Aged 1 Month to 2 Years: Useful Clues in a Resource-Limited Setting
Neuroimaging should be performed on infants with seizure. However, there are economic limitations in performing neuroimaging in a resource-limited setting. The younger the age, the higher the risk of having abnormal neuroimaging. The aim was to determine frequency and predictors of abnormal neuroimaging in children with epilepsy aged 1 month to 2 years. History, physical examination, electroencephalogram (EEG), and neuroimaging were reviewed. Thirty-seven of 49 (76%) had neuroimaging studies; 19 computed tomography (CT), 14 magnetic resonance imaging (MRI), and 4 had both. Abnormal neuroimaging was found in 19 (51%). Predi...
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Sanmaneechai, O., Danchaivijitr, N., Likasitwattanakul, S. Tags: Original Articles Source Type: research
An Evaluation of Cerebral and Systemic Predictors of 18-Month Outcomes for Neonates With Hypoxic Ischemic Encephalopathy
Amplitude-integrated EEG (aEEG) is a commonly used predictor of outcome after hypoxic ischemic encephalopathy. Cerebral and systemic near-infrared spectroscopy and acute kidney injury might also have prognostic value. The authors monitored neonates with aEEG, cerebral and systemic near-infrared spectroscopy during therapeutic hypothermia, assigned an acute kidney injury stage, and measured neurodevelopmental outcome. For 18 infants, cerebral near-infrared spectroscopy variables did not differentiate between those with favorable (n = 13) versus adverse (death or moderate-severe disability; n = 5) 18-month outcomes. However,...
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Shellhaas, R. A., Kushwaha, J. S., Plegue, M. A., Selewski, D. T., Barks, J. D. E. Tags: Original Articles Source Type: research
Sleep Structure in Children With Attention-Deficit/Hyperactivity Disorder
The authors evaluated basic sleep architecture and non–rapid eye movement (NREM) sleep alterations in drug-naïve attention-deficit/hyperactivity disorder (ADHD) children without psychiatric or other comorbidities. This cross-sectional case-control study included 28 drug-naïve children with ADHD and 15 healthy controls. This subjective studies revealed that children with ADHD had a worse sleep quality and increased daytime sleepiness. Polysomnography data showed that the sleep macrostructure was not significantly different in children with ADHD. Sleep microstructure was altered in ADHD children by means of r...
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Akinci, G., Oztura, I., Hiz, S., Akdogan, O., Karaarslan, D., Ozek, H., Akay, A. Tags: Original Articles Source Type: research
Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation
This report of familial recurrence, with suspected germline mosaicism in a healthy parent, has important consequences for genetic counseling. Although it is not possible to predict an exact recurrence risk, it is likely to be increased. (Source: Journal of Child Neurology)
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Hagebeuk, E. E. O., Marcelis, C. L., Alders, M., Kaspers, A., de Weerd, A. W. Tags: Original Articles Source Type: research
Resting State and Diffusion Neuroimaging Predictors of Clinical Improvements Following Constraint-Induced Movement Therapy in Children With Hemiplegic Cerebral Palsy
The aim was to identify neuroimaging predictors of clinical improvements following constraint-induced movement therapy. Resting state functional magnetic resonance and diffusion tensor imaging data was acquired in 7 children with hemiplegic cerebral palsy. Clinical and magnetic resonance imaging (MRI) data were acquired at baseline and 1 month later following a 3-week constraint therapy regimen. A more negative baseline laterality index characterizing an atypical unilateral sensorimotor resting state network significantly correlated with an improvement in the Canadian Occupational Performance Measure score (r = –0.81...
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Manning, K. Y., Fehlings, D., Mesterman, R., Gorter, J. W., Switzer, L., Campbell, C., Menon, R. S. Tags: Original Articles Source Type: research
Procedural Learning in Children With Developmental Coordination, Reading, and Attention Disorders
In conclusion, children with DCD+RD+ADHD improve in their use of cognitive-motor procedures over a short training period. Aims of intervention in DCD+RD+ADHD should be based on individual learning abilities. (Source: Journal of Child Neurology)
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Magallon, S., Crespo-Eguilaz, N., Narbona, J. Tags: Original Articles Source Type: research
Brain State Before Error Making in Young Patients With Mild Spastic Cerebral Palsy
In the present experiment, children with mild spastic cerebral palsy and a control group carried out a memory recognition task. The key question was if errors of the patient group are foreshadowed by attention lapses, by weak motor preparation, or by both. Reaction times together with event-related potentials associated with motor preparation (frontal late contingent negative variation), attention (parietal P300), and response evaluation (parietal error-preceding positivity) were investigated in instances where 3 subsequent correct trials preceded an error. The findings indicated that error responses of the patient group a...
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Hakkarainen, E., Pirila, S., Kaartinen, J., van der Meere, J. J. Tags: Original Articles Source Type: research
Cost and Outcome in Pediatric Ischemic Stroke
The cost of childhood stroke receives little notice. The authors examined potential drivers of cost and outcome to test whether (1) neonatal strokes cost less than childhood strokes, (2) associated diseases influence cost, (3) arterial ischemic stroke is more costly than sinovenous thrombosis, and (4) cost correlates with outcome. The authors reviewed records of 111 children who sustained arterial ischemic stroke or sinovenous thrombosis between 2005 and 2010 to identify costs for the following year. They assessed outcomes in 46 with the Recovery and Recurrence Questionnaire and the Pediatric Quality of Life Inventory. Neo...
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Hamilton, W., Huang, H., Seiber, E., Lo, W. Tags: Original Articles Source Type: research
Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a progressive neuromuscular condition that has a high rate of cognitive and learning disabilities as well as neurobehavioral disorders, some of which have been associated with disruption of dystrophin isoforms. Retrospective cohort of 59 boys investigated the cognitive and neurobehavioral profile of boys with Duchenne muscular dystrophy. Full-scale IQ of < 70 was seen in 27%; learning disability in 44%, intellectual disability in 19%; attention-deficit/hyperactivity disorder in 32%; autism spectrum disorders in 15%; and anxiety in 27%. Mutations affecting Dp260 isoform and 5’untransl...
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Banihani, R., Smile, S., Yoon, G., Dupuis, A., Mosleh, M., Snider, A., McAdam, L. Tags: Original Articles Source Type: research
Facial Expression in Response to Smell and Taste Stimuli in Small and Appropriate for Gestational Age Newborns
Small for gestational age newborns can later suffer from eating difficulties and slow growth. Nutritional preferences can be influenced by changes in sensory perception of smell and taste. To determine whether these could be detected at birth, the authors examined the different recognition pattern of smell and taste in small for gestational age newborns compared to appropriate for gestational age controls, as expressed by gusto-facial and naso-facial reflexes. The authors performed video analysis of facial expressions of 10 small for gestational age and 12 control newborns exposed to various tastes and smells. No differenc...
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Rotstein, M., Stolar, O., Uliel, S., Mandel, D., Mani, A., Dollberg, S., Reifen, R., Steiner, J. E., Harel, S., Leitner, Y. Tags: Original Articles Source Type: research
Fears in the General Population: More Frequent in Females and Associated With the Serotonin Transporter Promoter Polymorphism and Perceived Relationship With Mothers
This study aimed to examine the structure of fears of youth, and its associations with gender, genetic variation of the serotonin transporter (5-HTTLPR), and perceived maternal acceptance/rejection and control, in a population-representative sample. Participants were 453 adolescents and 540 young adults. Fears were assessed by a 18-item Fear Questionnaire, and perceived maternal relationships by the Mother Acceptance-Rejection/Control Questionnaire. A structured psychiatric interview was used to assess current and lifetime psychiatric disorders in participants from the older cohort. A principal component analyses indicated...
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Tulviste, T., Kiive, E., Akkermann, K., Harro, J. Tags: Original Articles Source Type: research
Outcome After Therapeutic Hypothermia in Term Neonates With Encephalopathy and a Syndromic Diagnosis
The objective of this study was to report our experience using hypothermia in neonates with signs of hypoxic-ischemic encephalopathy and a syndromic disorder or brain anomaly. Subjects were identified from a database of neonates admitted to the Neuro-Intensive Care Nursery at University of California, San Francisco. Of 169 patients fulfilling criteria for hypothermia, 8 (5%) had a syndromic disorder and were cooled per guidelines for nonsyndromic neonates. Perinatal characteristics of infants with and without syndromic disorder were not significantly different. Overall outcome was poor: 38% had evidence of acute hypoxic-is...
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Mrelashvili, A., Bonifacio, S. L., Rogers, E. E., Shimotake, T. K., Glass, H. C. Tags: Original Articles Source Type: research
Visual Outcome and Recurrence Rate in Children With Idiopathic Intracranial Hypertension
The purpose of this retrospective study was to evaluate the visual outcome and recurrence rate of idiopathic intracranial hypertension in children. The study included 68 patients who were diagnosed with idiopathic intracranial hypertension according to the modified Dandy criteria. Permanent visual impairment was rare. Three percent remained with mild visual impairment, 4% with minimal visual field defects, and only 1 patient had severe visual impairment. However, 26% had either a prolonged course of disease or a recurring condition. Higher cerebrospinal fluid opening pressure was the only clinical predictor at presentation...
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Ravid, S., Shahar, E., Schif, A., Yehudian, S. Tags: Original Articles Source Type: research
