Neural Correlates of Visuomotor Learning in Autism
Motor impairments are prevalent in children with autism spectrum disorder. The Serial Reaction Time Task, a well-established visuomotor sequence learning probe, has produced inconsistent behavioral findings in individuals with autism. Moreover, it remains unclear how underlying neural processes for visuomotor learning in children with autism compare to processes for typically developing children. Neural activity differences were assessed using functional magnetic resonance imaging during a modified version of the Serial Reaction Time Task in children with and without autism. Though there was no group difference in visuomot...
Source: Journal of Child Neurology - November 12, 2015 Category: Neurology Authors: Sharer, E., Crocetti, D., Muschelli, J., Barber, A. D., Nebel, M. B., Caffo, B. S., Pekar, J. J., Mostofsky, S. H. Tags: Original Articles Source Type: research
Autism Phenotypes in Tuberous Sclerosis Complex: Diagnostic and Treatment Considerations
Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe 3 individuals with tuberous sclerosis complex who share common characteristics that can help to identify a distinct profile of autism spectrum disorder. These findings include typical cognitive development, expressive and pragmatic language deficits, and anxiety. The authors also describe features specific to...
Source: Journal of Child Neurology - November 12, 2015 Category: Neurology Authors: Gipson, T. T., Poretti, A., Thomas, E. A., Jenkins, K. T., Desai, S., Johnston, M. V. Tags: Original Articles Source Type: research
Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment
Phelan-McDermid syndrome or 22q13.3 deletion syndrome is a rare neurodevelopmental disorder characterized by generalized developmental delay, intellectual disability, absent or delayed speech, seizures, autism spectrum disorder, neonatal hypotonia, physical dysmorphic features, and recurrent medical comorbidities. Individuals with Phelan-McDermid syndrome have terminal deletions of the chromosomal region 22q13.3 encompassing SHANK3, a gene encoding a structural component of excitatory synapses indispensable for proper synaptogenesis and neuronal physiology, or point mutations within the gene. Here, we review the clinical a...
Source: Journal of Child Neurology - November 12, 2015 Category: Neurology Authors: Harony-Nicolas, H., De Rubeis, S., Kolevzon, A., Buxbaum, J. D. Tags: Original Articles Source Type: research
Autism Spectrum Disorders: Current Understanding and Future Directions
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - November 12, 2015 Category: Neurology Authors: Maria, B. L. Tags: Editorial Source Type: research
JCN Calendar of Events
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Tags: & lt;I gt;JCN lt;/I gt; Calendar of Events Source Type: research
The Emerging Molecular Foundations of Pediatric Brain Tumors
Recent years have witnessed extensive molecular characterization of several pediatric brain tumor variants. These studies have dramatically shifted notions of disease classification and are likely to have similarly profound effects on patient management in the near future. In this review, we cover the molecular foundations of low-grade glial and glioneuronal neoplasms, high-grade glioma, ependymoma, and medulloblastoma, the details of which have only been recently elucidated in many cases. In doing so, we describe an array of biomarkers likely to play a major role in clinically relevant molecular stratification moving forw...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Huse, J. T., Rosenblum, M. K. Tags: Topical Review Article Source Type: research
Neurology of Nutritional Vitamin B12 Deficiency in Infants: Case Series From India and Literature Review
We studied 27 infants aged 6 to 27 months with vitamin B12 deficiency also known as "infantile tremor syndrome" in India. All were exclusively breast-fed by vegetarian mothers. Developmental delay or regression, pallor, skin hyperpigmentation, and sparse brown hair were present in all. Majority were hypotonic and involuntary movements were encountered in 18. Anemia and macrocytosis was found in 83% and 71% infants, respectively. Low serum vitamin B12 was present in 12 of 21 infants. Seven of the 9 infants with normal serum vitamin B12 had received vitamin B12 before referral. Twelve mothers had low serum vitamin B12. Cereb...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Goraya, J. S., Kaur, S., Mehra, B. Tags: Original Articles Source Type: research
Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age: Diagnostic Implications and Peculiarities
Electroencephalographic (EEG) photoparoxysmal response has been little investigated in very young patients. We studied 5055 patients aged less than 5 years with no acquired brain damage, who underwent EEG recording. We determined the prevalence and significance of photoparoxysmal response induced by 1 to 20 Hz photic stimulation. Fifty-three showed photoparoxysmal response and were diagnosed as having Dravet syndrome (11), epileptic encephalopathy with myoclonic seizures (8), neurodegenerative disorders (8), benign idiopathic epilepsies (9), and static disorders with a known or suspected genetic origin (17). Photoparoxysma...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Binelli, S., Ragona, F., Canafoglia, L., Freri, E., Saletti, V., Casazza, M., Gilioli, I., D'Arrigo, S., Visani, E., Panzica, F., Granata, T., Riva, D., Franceschetti, S. Tags: Original Articles Source Type: research
GPR56-Related Polymicrogyria: Clinicoradiologic Profile of 4 Patients
Bilateral frontoparietal polymicrogyria is an autosomal recessive cortical malformation associated with abnormalities of neuronal migration, white matter changes, and mild brainstem and cerebellar abnormalities. Affected patients present with delayed milestones, intellectual disability, epilepsy, ataxia, and eye movement abnormalities. The clinicoradiologic profile resembles congenital muscular dystrophy. However, no muscle disease or characteristic eye abnormalities of congenial muscular dystrophy are detected in these children. GPR56 is the only confirmed gene associated with bilateral frontoparietal polymicrogyria. Ante...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Desai, N. A., Udani, V. Tags: Original Articles Source Type: research
Prognostic Predictors for Ambulation in Thai Children With Cerebral Palsy Aged 2 to 18 Years
The objectives of this study were to determine prognostic predictors for ambulation among Thai children with cerebral palsy and identify their ambulatory status. A retrospective cohort study was performed at 6 special schools or hospitals for children with physical disabilities. The prognostic predictors for ambulation were analyzed by multivariable ordinal continuation ratio logistic regression. The 533 participants aged 2 to 18 years were divided into 3 groups: 186 with independent ambulation (Gross Motor Function Classification System [GMFCS I-II]), 71 with assisted ambulation (Gross Motor Function Classification System...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Keeratisiroj, O., Thawinchai, N., Siritaratiwat, W., Buntragulpoontawee, M. Tags: Original Articles Source Type: research
CNTNAP2 Is Significantly Associated With Speech Sound Disorder in the Chinese Han Population
Speech sound disorder is the most common communication disorder. Some investigations support the possibility that the CNTNAP2 gene might be involved in the pathogenesis of speech-related diseases. To investigate single-nucleotide polymorphisms in the CNTNAP2 gene, 300 unrelated speech sound disorder patients and 200 normal controls were included in the study. Five single-nucleotide polymorphisms were amplified and directly sequenced. Significant differences were found in the genotype (P = .0003) and allele (P = .0056) frequencies of rs2538976 between patients and controls. The excess frequency of the A allele in the patien...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Zhao, Y.-J., Wang, Y.-P., Yang, W.-Z., Sun, H.-W., Ma, H.-W., Zhao, Y.-R. Tags: Original Articles Source Type: research
Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders
Abnormal concentrations of dopamine and serotonin metabolites in the cerebrospinal fluid is the diagnostic hallmark of a group of treatable conditions known as the monoamine neurotransmitter disorders. We assessed cerebrospinal fluid dopamine and serotonin metabolite concentrations in a series of 69 patients affected by movement disorders of unknown etiology. Abnormal results were disclosed in 13/69 subjects (19%). Both primary and secondary monoamine neurotransmitter disorders were observed. The clinical presentation of both forms was hypokinetic-rigid syndrome or dystonia. l-Dopa treatment resulted in significant improve...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Tonduti, D., Zorzi, G., Ghezzi, D., Zibordi, F., Garavaglia, B., Nardocci, N. Tags: Original Articles Source Type: research
The Relationship Among Genetic Heritability, Environmental Effects, and Autism Spectrum Disorders: 37 Pairs of Ascertained Twin Study
Autism spectrum disorders (ASD) comprise a heterogeneous group of neurodevelopmental disorders that have strong heritability. To better understand the heritable factors in twins with clinically diagnosed ASD and to discuss the relationship between social impairments and genetic and environmental factors. In last 13 years, over 12,000 cases of ASD were diagnosed in the children’s development and behavior center, the authors review 37 pairs of these twins, in each pair, and at least 1 twin had been diagnosed with an ASD, and found that the concordance rate was 80% [95% confidence interval (CI) 51.9-95.7%] for monozygot...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Deng, W., Zou, X., Deng, H., Li, J., Tang, C., Wang, X., Guo, X. Tags: Original Articles Source Type: research
When Is EEG Indicated in Attention-Deficit/Hyperactivity Disorder?
The authors investigated the parameters for predicting epileptiform abnormalities in a group of children diagnosed with attention-deficit/hyperactivity disorder (ADHD). The sample consisted of 148 subjects aged between 6 and 13 (8.76 ± 1.26; 25.7% female) years. Subtypes of ADHD and comorbid psychiatric disorders were defined according to DSM-IV criteria. The Wechsler Intelligence Scale for Children–Revised was applied to all patients. Most of the subjects (89.2%) had wakefulness and sleep electroencephalography examinations lasting about one hour. The authors found out that the coexistence of speech sound dis...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Zaimoglu, S., Turkdogan, D., Mazlum, B., Bekiroglu, N., Tetik-Kabil, A., Eyilikeder, S. Tags: Original Articles Source Type: research
Adding Insult to Injury: Nonconvulsive Seizures in Abusive Head Trauma
The primary objectives of this study were to determine the prevalence of nonconvulsive seizures and nonconvulsive status epilepticus in patients with abusive head trauma who underwent electroencephalography (EEG) monitoring and to describe predictive factors for this population. Children with a diagnosis of abusive head trauma were studied retrospectively to determine the rate of EEG monitoring, the rate of nonconvulsive seizures and nonconvulsive status epilepticus, and the associated neuroimaging findings. Over 11 years, 73 of 199 (36.8%) children with abusive head trauma had electroencephalography monitoring performed. ...
Source: Journal of Child Neurology - October 16, 2015 Category: Neurology Authors: Greiner, M. V., Greiner, H. M., Care, M. M., Owens, D., Shapiro, R., Holland, K. Tags: Original Articles Source Type: research
