The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients With Epilepsy at a Tertiary Medical Center
This study assessed the clinical utility of single-nucleotide polymorphism microarray in patients with epilepsy. Study subjects were patients between the ages of birth to 23 years who were diagnosed with epilepsy and had a microarray performed at Cincinnati Children’s Hospital Medical Center. Statistical analysis explored the association of microarray results and brain magnetic resonance imaging (MRI), seizure type, and structural malformations. Approximately 17.7% (26/147) of participants had an abnormal microarray as defined by laboratory guidelines. There were no differences in frequency of abnormal brain MRI or s...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Hrabik, S. A., Standridge, S. M., Greiner, H. M., Neilson, D. E., Pilipenko, V. V., Zimmerman, S. L., Connor, J. A., Spaeth, C. G. Tags: Original Articles Source Type: research
EEG Duration: The Long and the Short of It
Current American Clinical Neurophysiology Society guidelines require a minimum of 20 minutes of artifact-free EEG recording; however, the optimum duration for routine EEGs is not established. Our hypothesis was that an EEG recording of 40 minutes’ duration would yield more information than a 20-minute EEG in capturing epileptiform abnormalities and in obtaining sleep. We retrospectively studied 150 consecutive EEGs of 40 minutes’ duration performed at St Christopher’s Hospital for Children. Although the majority (89%) of interictal EEG abnormalities can be identified within the first 20 minutes of a routi...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Miskin, C., Carvalho, K. S., Valencia, I., Legido, A., Khurana, D. S. Tags: Original Articles Source Type: research
A Preliminary Study of the Effects of an Arts Education Program on Executive Function, Behavior, and Brain Structure in a Sample of Nonclinical School-Aged Children
The authors examined the effects of arts education on cognition, behavior, and brain of children. Twenty-nine nonclinical children participated in a 15-week arts education program that was composed of either creative movement or musical arts. Children completed the Wisconsin Card Sorting Test, clinical scales, and brain magnetic resonance imaging before and after the intervention. Following program completion, performances on the Wisconsin Card Sorting Test, the Children’s Depression Inventory scores, and conduct disorder scores were significantly improved. Furthermore, cortical thickness in the left postcentral gyru...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Park, S., Lee, J.-M., Baik, Y., Kim, K., Yun, H. J., Kwon, H., Jung, Y.-K., Kim, B.-N. Tags: Original Articles Source Type: research
CAOS--Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene
We describe the molecular basis of a distinctive syndrome characterized by infantile stress-induced episodic weakness, ataxia, and sensorineural hearing loss, with permanent areflexia and optic nerve pallor. Whole exome sequencing identified a deleterious heterozygous c.2452 G>A, p.(E818K) variant in the ATP1A3 gene and structural analysis predicted its protein-destabilizing effect. This variant has not been reported in context with rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood, the 2 main diseases associated with ATP1A3. The clinical presentation in the family described here differs categori...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Heimer, G., Sadaka, Y., Israelian, L., Feiglin, A., Ruggieri, A., Marshall, C. R., Scherer, S. W., Ganelin-Cohen, E., Marek-Yagel, D., Tzadok, M., Nissenkorn, A., Anikster, Y., Minassian, B. A., Zeev, B. B. Tags: Original Articles Source Type: research
Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale
Rett syndrome is a genetically based neurodevelopmental disorder. Although the clinical consequences of Rett syndrome are profound and lifelong, currently no approved drug treatments are available specifically targeted to Rett symptoms. High quality outcome measures, specific to the core symptoms of a disorder are a critical component of well-designed clinical trials for individuals with neurodevelopmental disorders. The Clinical Global Impression Scale is a measure of global clinical change with strong face validity that has been widely used as an outcome measure in clinical trials of central nervous system disorders. Des...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Neul, J. L., Glaze, D. G., Percy, A. K., Feyma, T., Beisang, A., Dinh, T., Suter, B., Anagnostou, E., Snape, M., Horrigan, J., Jones, N. E. Tags: Original Articles Source Type: research
Predictors of Outcome of Convulsive Status Epilepticus Among an Egyptian Pediatric Tertiary Hospital
Convulsive status epilepticus is a common neurologic emergency in pediatrics. We aimed to study the etiology, clinical features, and prognostic factors among pediatric patients with convulsive status epilepticus. Seventy patients were included in this cohort study from pediatric emergency department of the specialized Children Hospital of Cairo University. The outcome was evaluated using the Glasgow Outcome Score. Acute symptomatic etiology was the most common cause of convulsive status epilepticus. Refractory convulsive status epilepticus was observed more significantly in cases caused by acute symptomatic etiologies. The...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Halawa, E. F., Draz, I., Ahmed, D., Shaheen, H. A. Tags: Original Articles Source Type: research
Parental Stress in Families of Children With Autism and Other Developmental Disabilities
The level of parental stress in families of children with autism and other developmental disabilities and its association with child comorbid symptoms was studied in an ethnically diverse population, in a cross-sectional study with structured interview. The sample included 50 families of children with autism and 50 families of children with other developmental disabilities, matched by age/gender. Interview included Parenting Stress Index–Short Form, Gastrointestinal Questionnaire, Child Sleep Habits Questionnaire, and Aberrant Behavior Checklist. In this ethnically diverse sample, parental stress was significantly hi...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Valicenti-McDermott, M., Lawson, K., Hottinger, K., Seijo, R., Schechtman, M., Shulman, L., Shinnar, S. Tags: Original Articles Source Type: research
Peripheral Innervation in Children With Global Developmental Delay: Biomarker for Risk for Self-Injurious Behavior?
The relation between somatosensory mechanisms and self-injury among children with neurologic impairments associated with developmental delay is not well understood. We evaluated the feasibility of procuring skin biopsies to examine epidermal nerve fiber density and reported self-injury. Following informed parental consent, epidermal skin biopsies were obtained from a distal leg site with no pre-existing skin damage from 11 children with global developmental delay (55% male; mean age = 36.8 months, 17-63 months). Visual microscopic examination and quantitative analyses showed extremely high epidermal nerve fiber density val...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Symons, F. J., Tervo, R. C., Barney, C. C., Damerow, J., Selim, M., McAdams, B., Foster, S., Crabb, G. W., Kennedy, W. Tags: Original Articles Source Type: research
A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG-Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients: Clinical Evaluations and In Silico Investigations
Rett syndrome is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG–binding protein MeCP2. The aim of this study was to search for mutations of MECP2 gene in Tunisian Rett patients and to evaluate the impact of the found variants on structural and functional features of MeCP2. The result of mutation analysis revealed that 3 Rett patients shared the same novel heterozygous point mutation c.175G>C (p.A59P). The p.A59P mutation was located in a conserved amino acid in the N-terminal segment of MeCP2. This novel mutation confers a phenotypic variability...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Kharrat, M., Hsairi, I., Fendri-Kriaa, N., Kenoun, H., Othmen, H. B., Ben Mahmoud, A., Ghorbel, R., Abid, I., Triki, C., Fakhfakh, F. Tags: Original Articles Source Type: research
JCN Calendar of Events
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Tags: & lt;I gt;JCN lt;/I gt; Calendar of Events Source Type: research
Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Finsterer, J., Zarrouk-Mahjoub, S. Tags: Correspondence Source Type: research
Book Review: Pediatric Neurocritical Care
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Ostendorf, A. Tags: Book Reviews Source Type: research
Book Review: Pediatric Imaging Essentials: Radiography, Ultrasound, CT, and MRI in Neonates and Children
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Rose, S. C. Tags: Book Reviews Source Type: research
Book Review: Pocket EMG
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Patel, A. D. Tags: Book Reviews Source Type: research
How Can We Practice Ethical Medicine When the Evidence Is Always Changing?
The practice of ethical medicine requires that the clinician offers interventions that are likely to help (beneficence), avoid interventions that are likely to harm (nonmaleficence), and allow for autonomous decision making. Our determination of what is in the best interest of the patient is dependent on the state of medical evidence at the time. However, as evidence evolves, the balance of beneficence and nonmaleficence may change, even to the extent of a complete reversal. In this article, I explore the issues of autonomy, particularly parental autonomy for a child, in a world in which the evidence is always changing. (S...
Source: Journal of Child Neurology - September 18, 2015 Category: Neurology Authors: Noritz, G. Tags: Other Source Type: research
