Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement
We report two additional patients with novel de novo mutations in KIF1A, hereby expanding the genetic spectrum of KIF1A-related hereditary spastic paraplegia. Both children presented with spastic paraplegia and additional findings of optic nerve atrophy, structural brain abnormalities, peripheral neuropathy, cognitive/language impairment, and never achieved ambulation. In particular, we highlight the progressive nature of cerebellar involvement as captured on sequential magnetic resonance images (MRIs), thus linking the neurodegenerative and spastic paraplegia phenotypes. Exome sequencing in patient 1 and patient 2 identif...
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: Hotchkiss, L., Donkervoort, S., Leach, M. E., Mohassel, P., Bharucha-Goebel, D. X., Bradley, N., Nguyen, D., Hu, Y., Gurgel-Giannetti, J., Bönnemann, C. G. Tags: Original Articles Source Type: research
Relationship Between Iodine Concentration in Maternal Colostrum and Neurobehavioral Development of Infants in Shanghai, China
It is well known that iodine plays an important role in the process of early growth and development of most organs, especially the brain. However, iodine concentration in the colostrum and its association with the neurobehavioral development of infants remains unclear. Colostrums from 150 women were collected, and their iodine concentrations were measured. The median colostrum iodine level was 187.8 μg/L. The Bayley Scales of Infant and Toddler Development–III test was performed when the infants were about 18 months. The mean cognitive, language, and motor composite scores were 105.3 ± 9.8, 105.2 ± 1...
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: Wu, M., Wu, D., Wu, W., Li, H., Cao, L., Xu, J., Yu, X., Bian, X., Yan, C., Wang, W. Tags: Original Articles Source Type: research
A Comparison of Midazolam, Lorazepam, and Diazepam for the Treatment of Status Epilepticus in Children: A Network Meta-analysis
In conclusion, nonintravenous midazolam and intravenous lorazepam were superior to intravenous or nonintravenous diazepam, and intravenous lorazepam was at least as effective as nonintravenous midazolam in treating pediatric status epilepticus. (Source: Journal of Child Neurology)
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: Zhao, Z.-y., Wang, H.-y., Wen, B., Yang, Z.-b., Feng, K., Fan, J.-c. Tags: Original Articles Source Type: research
JCN Calendar of Events
(Source: Journal of Child Neurology)
Source: Journal of Child Neurology - June 13, 2016 Category: Neurology Tags: & lt;I gt;JCN lt;/I gt; Calendar of Events Source Type: research
Use of a Virtual-Technological Sailing Program to Prepare Children With Disabilities for a Real Sailing Course: Effects on Balance and Quality of Life
Sailing might produce a positive effect on a patient’s general health and become an integrated part of rehabilitation. Our hypothesis was that a specific technological rehabilitation program might be used to prepare a group of disabled subjects for sailing. Seventeen patients (age range: 9-20) with impairments in motor coordination and balance and 15 healthy subjects participated in the study. The study was divided into the virtual-technological sailing phase, theory-practice phase, and sports phase. Proprioceptive platforms were used to evaluate balance, and the Child Health Questionnaire–PF50 was used to eval...
Source: Journal of Child Neurology - June 13, 2016 Category: Neurology Authors: Aprile, I., Iacovelli, C., Iuvone, L., Imbimbo, I., Cruciani, A., Pecchioli, C., Manozzi, F. M., Padua, L. Tags: Original Articles Source Type: research
Clinical Characteristics of Pediatric-Onset and Adult-Onset Multiple Sclerosis in Hispanic Americans
Multiple sclerosis can affect pediatric patients. Our aim was to compare characteristics between pediatric-onset multiple sclerosis and adult-onset multiple sclerosis in Hispanic Americans. This was a cross-sectional analysis of 363 Hispanic American multiple scleroses cases; demographic and clinical characteristics were analyzed. A total of 110 Hispanic patients presented with multiple sclerosis before age 18 and 253 as adult multiple sclerosis. The most common presenting symptoms for both was optic neuritis. Polyfocal symptoms, seizures, and cognitive symptoms at presentation were more prevalent in pediatric-onset multip...
Source: Journal of Child Neurology - June 13, 2016 Category: Neurology Authors: Langille, M. M., Islam, T., Burnett, M., Amezcua, L. Tags: Original Articles Source Type: research
Behavioral Symptoms in Pediatric Multiple Sclerosis: Relation to Fatigue and Cognitive Impairment
The emotional and behavioral problems associated with pediatric multiple sclerosis remain unclear. Participants with pediatric multiple sclerosis or clinically isolated syndrome (n = 140; ages 5-18 years) completed self- and parent ratings using the Behavioral Assessment System for Children, Second Edition, neurologic exam, the Fatigue Severity Scale, and neuropsychological assessment. Mean self- and parent-ratings on the Behavioral Assessment System for Children, Second Edition, were in the typical range across all scales. However, 33.1% indicated a clinically significant problem on a least 1 scale. Although the type of c...
Source: Journal of Child Neurology - June 13, 2016 Category: Neurology Authors: Charvet, L., Cersosimo, B., Schwarz, C., Belman, A., Krupp, L. B. Tags: Original Articles Source Type: research
The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?
Benign paroxysmal torticollis of infancy is an unusual movement disorder, often accompanied by a family history of migraine. Some benign paroxysmal torticollis cases are associated with CACNA1A mutations. The authors sought to determine the frequency of CACNA1A mutations in benign paroxysmal torticollis by testing 8 children and their parents and by searching the literature for benign paroxysmal torticollis cases with accompanying CACNA1A mutations or other disorders linked to the same gene. In our 8 benign paroxysmal torticollis cases, the authors found 3 different polymorphisms, but no pathogenic mutations. By contrast, ...
Source: Journal of Child Neurology - June 13, 2016 Category: Neurology Authors: Shin, M., Douglass, L. M., Milunsky, J. M., Rosman, N. P. Tags: Original Articles Source Type: research
Diet Redux: Outcomes from Reattempting Dietary Therapy for Epilepsy
The outcome for patients attempting dietary therapy for epilepsy a second time is unknown. Twenty-six subjects treated with the ketogenic diet as children who then began either the ketogenic diet or a Modified Atkins Diet (MAD) at least 6 months later were evaluated. The mean age at the first diet trial was 5.6 years and at the second diet trial was 11.5 years. Most restarted dietary therapy because of persistent seizures (65%) or recurrence after seizure freedom (19%). Overall, 77% had a ≥50% seizure reduction with the first diet, and 50% with the second diet, P = .04. Individual subject responses were largely similar,...
Source: Journal of Child Neurology - June 13, 2016 Category: Neurology Authors: Kossoff, E. H., Doerrer, S. C., Winesett, S. P., Turner, Z., Henry, B. J., Bessone, S., Stanfield, A., Cervenka, M. C. Tags: Original Articles Source Type: research
Functional Outcome of School Children With History of Global Developmental Delay
This study aimed to investigate the functional and developmental outcomes in school age children diagnosed with global developmental delay before 2 years old and to verify the association between their final diagnosis and environmental and biological factors. Forty-five Brazilian children (26 boys), mean age 95.84 (7.72) months, who attended regular school and were diagnosed with global developmental delay before they were 2 years old had their functions evaluated. Children with global developmental delay were diagnosed with several conditions at school age. Students with greater chances of receiving a diagnosis were those...
Source: Journal of Child Neurology - June 13, 2016 Category: Neurology Authors: Dornelas, L. F., Duarte, N. M. C., Morales, N. M. O., Pinto, R. M. C., Araujo, R. R. H., Pereira, S. A., Magalhaes, L. C. Tags: Original Articles Source Type: research
Clinical Experience With Deferiprone Treatment for Friedreich Ataxia
Friedreich ataxia is an inherited disorder characterized by degeneration of the peripheral and central nervous system and hypertrophic cardiomyopathy. Homozygous mutations in the frataxine (FXN) gene reduce expression of frataxin and cause accumulation of iron in the mitochondria. Deferiprone, an oral iron chelator, has been shown effective in cell and animal models of Friedreich ataxia. The results of a 6-month randomized, double blind placebo-controlled study suggested that deferiprone 20 mg/kg/day may reduce disease progression. The authors present their experience of 5 Friedreich ataxia patients treated with deferipron...
Source: Journal of Child Neurology - June 13, 2016 Category: Neurology Authors: Elincx-Benizri, S., Glik, A., Merkel, D., Arad, M., Freimark, D., Kozlova, E., Cabantchik, I., Hassin-Baer, S. Tags: Original Articles Source Type: research
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series
ADCY5 mutations have been reported as a cause of early onset hyperkinetic movements associated with delayed motor milestones, hypotonia, and exacerbation during sleep. The movement disorder may be continuous or episodic, and can vary considerably in severity within families and in individuals. The authors report a case series of 3 patients with ADCY5 mutations treated with deep brain stimulation after unsuccessful medication trials. All had extensive imaging, metabolic, and genetic testing prior to confirmation of their ADCY5 mutation. Two of the patients had the c.1252C>T; p.R418W mutation, while the youngest and most ...
Source: Journal of Child Neurology - June 13, 2016 Category: Neurology Authors: Dy, M. E., Chang, F. C. F., Jesus, S. D., Anselm, I., Mahant, N., Zeilman, P., Rodan, L. H., Foote, K. D., Tan, W.-H., Eskandar, E., Sharma, N., Okun, M. S., Fung, V. S. C., Waugh, J. L. Tags: Original Articles Source Type: research
Autism Spectrum Disorders in Africa: Current Challenges in Identification, Assessment, and Treatment: A Report on the International Child Neurology Association Meeting on ASD in Africa, Ghana, April 3-5, 2014
This report summarizes a workshop on autism spectrum disorder in Africa under the auspices of the International Child Neurology Association and the African Child Neurology Association through guided presentations and working group reports, focusing on identification, diagnosis, management, and community support. A total of 47 delegates participated from 14 African countries. Although there was a huge variability in services across the countries represented, numbers of specialists assessing and managing autism spectrum disorder was small relative to populations served. Strategies were proposed to improve identification, dia...
Source: Journal of Child Neurology - June 13, 2016 Category: Neurology Authors: Ruparelia, K., Abubakar, A., Badoe, E., Bakare, M., Visser, K., Chugani, D. C., Chugani, H. T., Donald, K. A., Wilmshurst, J. M., Shih, A., Skuse, D., Newton, C. R. Tags: Original Articles Source Type: research
Moyamoya Syndrome in South African Children With HIV-1 Infection
A national multicenter study identified 17 South African children with vertically acquired HIV-1 infection and HIV-associated vasculopathy. Five of the children (all indigenous African ancestry) had progressive vascular disease, consistent with moyamoya syndrome. Median presentation age 5.8 years (range 2.2-11). The children with moyamoya syndrome presented with abnormal CD4 counts and raised viral loads. Clinical features included motor deficits, neuroregression, and intellectual disability. Neuroimaging supported progressive vascular disease with preceding clinically silent disease course. Neurologic recovery occurred in...
Source: Journal of Child Neurology - June 13, 2016 Category: Neurology Authors: Hammond, C. K., Shapson-Coe, A., Govender, R., van Toorn, R., Ndondo, A., Wieselthaler, N., Eley, B., Mubaiwa, L., Wilmshurst, J. M. Tags: Original Articles Source Type: research
Impaired Automatic Arm Movements in Obstetric Brachial Plexus Palsy Suggest a Central Disorder
The authors aimed to find evidence for a central component of the impairment of movement of the affected arm in children with obstetric brachial plexus palsy. The authors performed a cross-sectional study in 19 children (median age 5 years) with obstetric brachial plexus palsy who were able to voluntarily abduct their affected arm beyond 90 degrees. They were asked to perform 4 tasks designed to provoke automatic arm movements to maintain balance. The authors assumed automatic motor programming to be impaired when 2 of 3 investigators agreed using video recordings that the affected arm did not abduct beyond 90 degrees whil...
Source: Journal of Child Neurology - June 13, 2016 Category: Neurology Authors: Anguelova, G. V., Malessy, M. J. A., Buitenhuis, S. M., Zwet, E. W. v., Dijk, J. G. v. Tags: Original Articles Source Type: research
