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Journal of Child Neurology

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
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
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
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
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
Ethan Bassett, Robert Heinle, Douglas Johnston
No abstract text is available yet for this article.
October 4, 2016: Journal of Child Neurology
Marko Pokorn, Monika Jevšnik, Miroslav Petrovec, Andrej Steyer, Tatjana Mrvič, Štefan Grosek, Lara Lusa, Franc Strle
The majority of children with febrile seizures have viral infections and viruses were detected in 22% to 63% of children in published studies. Using molecular methods, viruses were also detected in asymptomatic persons. A prospective study was conducted to detect respiratory and enteric viruses in 192 children with febrile seizures and compare the detection rates to those found in 156 healthy age-matched controls. A respiratory or enteric virus was detected in 72.9% of children with febrile seizures and in 51...
October 3, 2016: Journal of Child Neurology
Pinar Arican, Nihal Olgac Dundar, Pinar Gencpinar, Dilek Cavusoglu
Bell's palsy is the most common cause of acute peripheral facial nerve paralysis, but the optimal dose of corticosteroids in pediatric patients is still unclear. This retrospective study aimed to evaluate the efficacy of low-dose corticosteroid therapy compared with high-dose corticosteroid therapy in children with Bell's palsy. Patients were divided into 2 groups based on the dose of oral prednisolone regimen initiated. The severity of idiopathic facial nerve paralysis was graded according to the House-Brackmann Grading Scale...
September 29, 2016: Journal of Child Neurology
Merina T Su, Fiona McFarlane, Andrea E Cavanna, Cristiano Termine, Imogen Murray, Larissa Heidemeyer, Isobel Heyman, Tara Murphy
Gilles de la Tourette syndrome is a chronic neuropsychiatric disorder that can have a detrimental impact on the health-related quality of life of children with the condition. To date no patient-reported health-related quality of life measures have been developed for children and adolescents in the English language. This study validated the first disease-specific scale for the quantitative assessment of health-related quality of life in 118 children and adolescents with Gilles de la Tourette syndrome (C&A-GTS-QOL) following language adaptation from Italian to English in the United Kingdom...
September 29, 2016: Journal of Child Neurology
Romina Romaniello, Susan Marelli, Roberto Giorda, Maria F Bedeschi, Maria C Bonaglia, Filippo Arrigoni, Fabio Triulzi, Maria T Bassi, Renato Borgatti
To gain a better understanding of the clinical and genetic features associated with agenesis of corpus callosum, we enrolled and characterized 162 patients with complete or partial agenesis of corpus callosum. Clinical and genetic protocols allowed us to categorize patients as syndromic subjects, affected by complex extra-brain malformations, and nonsyndromic subjects without any additional anomalies. We observed slight differences in sex ratio (56% males) and agenesis type (52% complete). Syndromic agenesis of corpus callosum subjects were prevalent (69%)...
September 28, 2016: Journal of Child Neurology
Dazhi Cheng, Xiuxian Yan, Zhijie Gao, Keming Xu, Xinlin Zhou, Qian Chen
Although neuropsychological studies have demonstrated specific cognitive impairments in children with childhood absence epilepsy (CAE), the potential role of the frontal lobe in these cognitive deficits remains unclear. We therefore evaluated cognitive functions related to and unrelated to the functionality of the frontal lobe in childhood absence epilepsy patients and control subjects. Thirty-seven childhood absence epilepsy patients and 37 age- and gender-matched healthy control subjects were recruited and assessed using a computerized neuropsychological test battery...
September 23, 2016: Journal of Child Neurology
Azza M Oraby, Ehab R Abdol Raouf, Mostafa M El-Saied, Maha K Abou-Khadra, Suzette I Helal, Adel F Hashish
We conducted the present study to examine cognitive function and serum heat shock protein 70 levels among children with temporal lobe epilepsy. The Stanford-Binet Intelligence Test was carried out to examine cognitive function in 30 children with temporal lobe epilepsy and 30 controls. Serum heat shock protein 70 levels were determined with an enzyme-linked immunosorbent assay. The epilepsy group had significantly lower cognitive function testing scores and significantly higher serum heat shock protein 70 levels than the control group; there were significant negative correlations between serum heat shock protein 70 levels and short-term memory and composite scores...
September 23, 2016: Journal of Child Neurology
Madhivanan Karthigeyan, Kirti Gupta, Pravin Salunke
Central neurocytomas are well-differentiated tumors of neuronal origin. These are relatively uncommon in the pediatric population. Anaplastic features reflected by brisk mitotic activity, microvascular proliferation, necrosis, and MIB-1 labeling index >2% or 3% have been proposed to indicate aggressive behavior. Because of its rarity, there is paucity of data regarding the histologic spectrum and outcome of central neurocytomas in children. With this short series, we describe our observations of the clinicopathologic characteristics and outcome of this tumor in children over a 5-year period...
September 23, 2016: Journal of Child Neurology
Chih-Jou Lai, Ting-Rong Hsu, Chia-Feng Yang, Shyi-Jou Chen, Ya-Chin Chuang, Dau-Ming Niu
Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development-Third Edition at 6, 12, and 24 months of age...
September 21, 2016: Journal of Child Neurology
Simone Ardern-Holmes, Gemma Fisher, Kathryn North
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder (incidence 1:33 000-40 000) characterized by formation of central nervous system tumors, due to mutation in the NF2 gene on chromosome 22q12. Vestibular schwannomas are the hallmark lesion, affecting 95% of individuals and typically occur bilaterally. Schwannomas commonly occur on other nerves intracranially and in the spinal compartment, along with meningiomas, ependymomas, and gliomas. Although histologically benign, tumors are associated with significant morbidity due to multiple problems including hearing and vision loss, gait abnormalities, paralysis, pain, and seizures...
September 21, 2016: Journal of Child Neurology
Jacqueline S Gofshteyn, Angus Wilfong, Orrin Devinsky, Judith Bluvstein, Joshi Charuta, Michael A Ciliberto, Linda Laux, Eric D Marsh
Febrile infection-related epilepsy syndrome (FIRES) is a devastating epilepsy affecting normal children after a febrile illness. FIRES presents with an acute phase with super-refractory status epilepticus and all patients progress to a chronic phase with persistent refractory epilepsy. The typical outcome is severe encephalopathy or death. The authors present 7 children from 5 centers with FIRES who had not responded to antiepileptic drugs or other therapies who were given cannabadiol (Epidiolex, GW Pharma) on emergency or expanded investigational protocols in either the acute or chronic phase of illness...
September 21, 2016: Journal of Child Neurology
Amel A F El-Sayed
Data of 829 infants with obstetric brachial plexus palsy were reviewed to identify any cases that could not be fitted into the any of the well-known types of palsy. These unusual cases were studied in detail with regard to clinical presentation and electrophysiological findings as well as management and spontaneous motor recovery. Erb's, extended Erb's, and total palsies were seen in 42.8%, 28.8%, and 28.0% of cases, respectively. Three cases (0.4%) did not fit into any of the classic types. One case had bilateral palsy, and the remaining 2 cases had unilateral palsy...
September 21, 2016: Journal of Child Neurology
Alexander Cohen, Daniel Kenney-Jung, Hugo Botha, Jan-Mendelt Tillema
Freely available software, derived from the past 2 decades of neuroimaging research, is significantly more flexible for research purposes than presently available clinical tools. Here, we describe and demonstrate the utility of rapidly deployable analysis software to facilitate trainee-driven translational neuroimaging research. A recipe and video tutorial were created to guide the creation of a NeuroDebian-based virtual computer that conforms to current neuroimaging research standards and can exist within a HIPAA-compliant system...
September 21, 2016: Journal of Child Neurology
Sumeet R Dhawan, Anju Gupta, Pratibha Singhi, Naveen Sankhyan, Prahbhjot Malhi, N Khandelwal
AIMS: To assess the long-term outcome of childhood tuberculous meningitis treated with modern 4-drug antitubercular regimens and to determine predictors of survival and morbidity. METHODS: In this single-center prospective cohort, outcome of children with tuberculous meningitis treated with standard regimens was assessed at 6 months and 12 months after discharge using the Pediatric Cerebral Performance Category Scale. RESULTS: Of 130 children, 38 died in hospital and 34 were either severely disabled or comatose/vegetative at discharge...
September 21, 2016: Journal of Child Neurology
Caterina Garone, Juliana Gurgel-Giannetti, Simone Sanna-Cherchi, Sindu Krishna, Ali Naini, Catarina M Quinzii, Michio Hirano
SUCLA2 defects have been associated with mitochondrial DNA (mtDNA) depletion and the triad of hypotonia, dystonia/Leigh-like syndrome, and deafness. A 9-year-old Brazilian boy of consanguineous parents presented with psychomotor delay, deafness, myopathy, ataxia, and chorea. Despite the prominent movement disorder, brain magnetic resonance imaging (MRI) was normal while (1)H-magnetic resonance spectroscopy (MRS) showed lactate peaks in the cerebral cortex and lateral ventricles. Decreased biochemical activities of mitochondrial respiratory chain enzymes containing mtDNA-encoded subunits and mtDNA depletion were observed in muscle and fibroblasts...
September 20, 2016: Journal of Child Neurology
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