Seizure Action Plans Do Not Reduce Health Care Utilization in Pediatric Epilepsy Patients
This study suggests that pediatric epilepsy quality improvement measures may require alternative approaches to reduce health care utilization and improve outcomes. (Source: Journal of Child Neurology)
Source: Journal of Child Neurology - February 8, 2016 Category: Neurology Authors: Roundy, L. M., Filloux, F. M., Kerr, L., Rimer, A., Bonkowsky, J. L. Tags: Original Articles Source Type: research
Dysregulation of FMRP/mTOR Signaling Cascade in Hypoxic-Ischemic Injury of Premature Human Brain
In this study the authors investigated whether dysregulation of the fragile X mental retardation protein and mammalian target of rapamycin signaling cascade can have a role in the pathogenesis of encephalopathy of prematurity following perinatal hypoxia-ischemia. The authors examined the brain tissue of newborns with encephalopathy and compared it to age-matched controls with normal brain development and adults. In normal controls, the fragile X mental retardation protein expression in cortical gray matter spiked 4-fold during 36-39 gestational weeks compared to the adult, with a concomitant suppression of p70S6K and S6. I...
Source: Journal of Child Neurology - February 8, 2016 Category: Neurology Authors: Lechpammer, M., Wintermark, P., Merry, K. M., Jackson, M. C., Jantzie, L. L., Jensen, F. E. Tags: Original Articles Source Type: research
Seizure Recurrence in Developmentally and Neurologically Normal Children With a Newly Diagnosed Unprovoked Seizure
This study aims to assess recurrence risk in developmentally and neurologically normal children with a newly diagnosed unprovoked seizure. The medical record was retrospectively reviewed in 393 children who had a newly diagnosed, unprovoked seizure. A total of 152 children met inclusion criteria. The relationship between seizure recurrence and variables was examined. Seventy cases had recurrent seizures. Total 113 cases had follow-up data and 70 cases of these (63.7%) experienced recurrent seizures. EEG was abnormal in 65 (44.8%): focal epileptiform abnormality in 34 cases (23.4%) and generalized epileptiform abnormality i...
Source: Journal of Child Neurology - February 8, 2016 Category: Neurology Authors: Kim, H., Oh, A., de Grauw, X., de Grauw, T. J. Tags: Original Articles Source Type: research
A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho-Levin Syndrome
Jarcho–Levin syndrome (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold–Chiari malformation, renal and urinary abnormalities, hydrocephalus, congenital cardiac abnormalities, and extremity malformations. The study included 12 cases at 37-42 weeks of gestation and diagnosed to have had Jarcho–Levin syndrome, Arnold–Chiari malformation, and meningmyelocele. All cases of Jarcho–Levin syndrome had Arnold–Chiari type 2 malformation; there was corpus callosum dysgenesis in 6, l...
Source: Journal of Child Neurology - February 8, 2016 Category: Neurology Authors: Demir, N., Peker, E., Gülsen, I., Agengin, K., Kaba, S., Tuncer, O. Tags: Original Articles Source Type: research
Polio-Like Illness Associated With Outbreak of Upper Respiratory Tract Infection in Children
Poliomyelitis is a historically devastating neurological complication of poliovirus infection. Poliovirus vaccines have decreased the incidence of poliomyelitis to 209 global cases in 2014, with new cases of acute flaccid myelitis primarily associated with nonpolio enteroviruses. Recently, during outbreaks of enterovirus D68 throughout North America and Europe, cases of acute flaccid myelitis have been reported, suggesting another nonpolio enterovirus associated with acute flaccid myelitis. The authors describe 3 patients diagnosed with acute flaccid myelitis during a province-wide outbreak of enterovirus D68 with the viru...
Source: Journal of Child Neurology - February 8, 2016 Category: Neurology Authors: Crone, M., Tellier, R., Wei, X.-C., Kuhn, S., Vanderkooi, O. G., Kim, J., Mah, J. K., Mineyko, A. Tags: Original Articles Source Type: research
JCN Calendar of Events
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Tags: & lt;I gt;JCN lt;/I gt; Calendar of Events Source Type: research
Book Review: Neuro-Oncology: The Essentials
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Gedela, S. Tags: Book Reviews Source Type: research
Book Review: Spinal Cord Injury in the Child and Young Adult
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Sribnick, E. A. Tags: Book Reviews Source Type: research
Late Effects of Treatment of Pediatric Central Nervous System Tumors
Central nervous system tumors represent the most common solid malignancy in childhood. Improvement in treatment approaches have led to a significant increase in survival rates, with over 70% of children now surviving beyond 5 years. As more and more children with CNS tumors have longer survival times, it is important to be aware of the long-term morbidities caused not only by the tumor itself but also by tumor treatment. The most common side effects including poor neurocognition, endocrine dysfunction, neurological and vascular late effects, as well as secondary malignancies, are discussed within this article. (Source: Jou...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Roddy, E., Mueller, S. Tags: Topical Review Articles Source Type: research
Retinoblastoma
is the most common primary intraocular malignancy of childhood. It typically presents with leukocoria or strabismus. In later stages of the disease, the child may exhibit proptosis, buphthalmos, or hypopyon. The pathognomonic molecular aberration is a loss of function mutation in the RB1 gene on chromosome 13q. The degree of tumor involvement within the eye is defined by its group. Grouping was historically done with Reese-Ellsworth System. Recent therapeutic advances have led to the development of a new grouping system, the International Classification of Retinoblastoma (ICRB). In cases of extraocular extension and metas...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Ortiz, M. V., Dunkel, I. J. Tags: Topical Review Articles Source Type: research
Neuroplastic Sensorimotor Resting State Network Reorganization in Children With Hemiplegic Cerebral Palsy Treated With Constraint-Induced Movement Therapy
Using resting state functional magnetic resonance imaging (MRI), we aim to understand the neurologic basis of improved function in children with hemiplegic cerebral palsy treated with constraint-induced movement therapy. Eleven children including 4 untreated comparison subjects diagnosed with hemiplegic cerebral palsy were recruited from 3 clinical centers. MRI and clinical data were gathered at baseline and 1 month for both groups, and 6 months later for the case group only. After constraint therapy, the sensorimotor resting state network became more bilateral, with balanced contributions from each hemisphere, which was s...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Manning, K. Y., Menon, R. S., Gorter, J. W., Mesterman, R., Campbell, C., Switzer, L., Fehlings, D. Tags: Original Articles Source Type: research
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease
Disease-related mutations in the mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene encoding a critical enzyme for mitochondrial translation have been rarely reported and are described in association with Leigh syndrome and combined oxidative phosphorylation deficiency. Symptoms include developmental delay, followed by ataxia and spasticity manifesting at later stages. A man had a clinical picture suggestive of an acquired demyelinating disease. Brain magnetic resonance imaging (MRI) demonstrated extensive involvement of the optic nerves, cerebral white matter, brain stem, and spinal cord. Whole-exome sequencing d...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Pena, J. A., Lotze, T., Yang, Y., Umana, L., Walkiewicz, M., Hunter, J. V., Scaglia, F. Tags: Original Articles Source Type: research
Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation
GNAO1, located on chromosome 16q12.2, encodes for 1 of the heterotrimeric guanine binding proteins subunits (G proteins), specifically Gαo, which has been implicated as having an important role in brain function. GNAO1 mutations have been shown to impart oncogene properties as well as cause epileptic encephalopathy. The authors report 2 cases of brothers with a severe movement disorder and hypotonia without epilepsy who have been confirmed by whole exome sequencing to have a novel mutation in GNAO1. Their movement disorder improved significantly with deep brain stimulation. (Source: Journal of Child Neurology)
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Kulkarni, N., Tang, S., Bhardwaj, R., Bernes, S., Grebe, T. A. Tags: Original Articles Source Type: research
Anxiety and Depression in Adolescents With Epilepsy
The present study examined anxiety and depression in adolescents with epilepsy and the association of these disorders with seizure-related and sociodemographic variables. The Hospital Anxiety and Depression Scale was administered to 140 children with epilepsy and 50 children with asthma aged 10 to 18 years attending mainstream schools. Adolescents with epilepsy had significantly higher scores on the depression subscale than those with asthma (5.2 ± 3.3 vs 4.2 ± 3.2, P = .032). Anxiety subscale scores and the frequency of anxiety and depression in both the epilepsy and asthma groups were not statistically sign...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Kwong, K. L., Lam, D., Tsui, S., Ngan, M., Tsang, B., Lai, T. S., Lam, S. M. Tags: Original Articles Source Type: research
Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex
Tuberous sclerosis complex is an autosomal dominant genetic disorder that confers a high risk for neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability. Studies have demonstrated specific delays in visual reception skills that may predict the development of autism spectrum disorder and intellectual disability. Based on evidence for alterations in the retinogeniculate pathway in animal models of tuberous sclerosis complex, we asked whether children with tuberous sclerosis complex demonstrate alterations in early visual processing that may undermine the development of higher-level visual ...
Source: Journal of Child Neurology - January 12, 2016 Category: Neurology Authors: Varcin, K. J., Nelson, C. A., Ko, J., Sahin, M., Wu, J. Y., Jeste, S. S. Tags: Original Articles Source Type: research
