Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature.

abstract：:Three normal children with headache occurring only with exertion were advised to try "head cooling" (eg, immersion of the head in cold water, cold water poured over the head, application of a cold, wet towel or ice pack) at the onset of headache. The patients were followed up quarterly as outpatients, and the effectiv...

journal_title：Journal of child neurology

authors： Singh RK,Martinez A,Baxter P

更新日期：2006-12-01 00:00:00

abstract：:The most devastating complications of tuberous sclerosis complex affect the central nervous system and include epilepsy, mental retardation, autism, and glial tumors. Mutations in one of two genes, TSC1 and TSC2, result in a similar disease phenotype by disrupting the normal interaction of their protein products, hama...

journal_title：Journal of child neurology

authors： Scheidenhelm DK,Gutmann DH

更新日期：2004-09-01 00:00:00

abstract：:In addition to the typical infantile spasm symptoms, several other symptoms, such as eye movements, have been reported to be associated with infantile spasms, although the relationship between the typical spasms and these other events is not fully understood. Here we present a case with West syndrome. We observed the ...

journal_title：Journal of child neurology

authors： Kakisaka Y,Kobayashi T,Hino-Fukuyo N,Uematsu M,Numata Y,Mori M,Kure S

更新日期：2013-11-01 00:00:00

abstract：:Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN) gene. There are two nearly identical copies of this gene present on chromosome 5q13; however, only the telomeric copy of this gene is affected in spinal muscular atrophy. In this study, we describe a new method to detec...

journal_title：Journal of child neurology

authors： Mazzei R,Conforti FL,Muglia M,Sprovieri T,Patitucci A,Magariello A,Gabriele AL,Quattrone A

更新日期：2003-04-01 00:00:00

abstract：:We report the clinical, electroencephalographic, neurophysiologic, and neuroimaging findings in eight children with infant-onset progressive myoclonus epilepsy, all of whom had muscle biopsies performed as as part of the diagnostic evaluation. Each child had myoclonic seizures, generalized tonic-clonic seizures, and n...

journal_title：Journal of child neurology

authors： Harbord MG,Hwang PA,Robinson BH,Becker LE,Hunjan A,Murphy EG

更新日期：1991-04-01 00:00:00

abstract：:Growth failure is nearly universal in spinal muscular atrophy type 1 and common in type 2, although acuity is often underappreciated at initial diagnosis. We reviewed 44 consecutive spinal muscular atrophy patients (28 type 1, 16 type 2) under 3 years at initial presentation. Growth failure was conventionally defined:...

journal_title：Journal of child neurology

authors： Sproule DM,Hasnain R,Koenigsberger D,Montgomery M,De Vivo DC,Kaufmann P

更新日期：2012-07-01 00:00:00

abstract：:Aminoacyl-transfer ribonucleic acid (RNA) synthetases (ARSs) are a group of enzymes required for the first step of protein translation. Each aminoacyl-transfer RNA synthetase links a specific amino acid to its corresponding transfer RNA component within the cytoplasm, mitochondria, or both. Mutations in ARSs have been...

journal_title：Journal of child neurology

authors： McMillan HJ,Humphreys P,Smith A,Schwartzentruber J,Chakraborty P,Bulman DE,Beaulieu CL,FORGE Canada Consortium.,Majewski J,Boycott KM,Geraghty MT

更新日期：2015-07-01 00:00:00

abstract：:Autosomal inherited mitochondrial diseases have been of increasing interest among clinicians and mitochondrial research groups because these diseases are caused through a secondary effect on the mitochondrial DNA. It was thought that the genetic stability of mitochondrial DNA relies on the accuracy of DNA polymerase g...

journal_title：Journal of child neurology

authors： Burusnukul P,de los Reyes EC

更新日期：2009-04-01 00:00:00

abstract：:The objective of this study is to determine the long-term outcome of children with intractable epilepsy who have diffuse cortical hypometabolism on 2-deoxy-2-((18)F)fluoro-D-glucose positron emission tomography (FDG-PET) scans. Seventeen children with intractable epilepsy showing bilateral, diffuse cortical hypometabo...

journal_title：Journal of child neurology

authors： Shandal V,Veenstra AL,Behen M,Sundaram S,Chugani H

更新日期：2012-01-01 00:00:00

abstract：:Young children with sickle cell disease are at risk of brain damage, including stroke. We tested the hypothesis that such patients are also at risk of cognitive impairment. We characterized the cognitive ability of kindergarten children to minimize the effect of disease-related school absence. The Memphis City Schools...

journal_title：Journal of child neurology

authors： Steen RG,Hu XJ,Elliott VE,Miles MA,Jones S,Wang WC

更新日期：2002-02-01 00:00:00

abstract：:To determine the plasma baclofen concentrations of children undergoing continuous intrathecal baclofen infusion for treatment of cerebral spasticity, we assayed plasma samples from six children, 8 to 18 years of age, who were receiving intrathecal baclofen at constant rates of 77 to 400 micrograms/day. Plasma levels w...

journal_title：Journal of child neurology

authors： Albright AL,Shultz BL

更新日期：1999-06-01 00:00:00

abstract：:Ketogenic therapy is now an accepted treatment for pediatric and adult patients with medically refractory epilepsy.1-3 However, young adults treated with a ketogenic diet face unique challenges when transitioning to adult neurology providers.4 The variable acceptance of dietary therapy, paucity of nutritionists and ad...

journal_title：Journal of child neurology

authors： Seaborg K,Wang X,Olson C,Felton EA

更新日期：2020-11-01 00:00:00

abstract：:This is the first study to evaluate the efficacy of riboflavin for migraine prophylaxis in children. This was a randomized, double-blind study of riboflavin (200 mg daily) versus placebo in 48 children. The primary efficacy measure was the number of patients achieving a 50% or greater reduction in the number of migrai...

journal_title：Journal of child neurology

authors： MacLennan SC,Wade FM,Forrest KM,Ratanayake PD,Fagan E,Antony J

更新日期：2008-11-01 00:00:00

abstract：: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 neuroimagin...

journal_title：Journal of child neurology

authors： Cohen A,Kenney-Jung D,Botha H,Tillema JM

更新日期：2017-01-01 00:00:00

abstract：:Our objective was to delineate the educational and behavioral differences between learning disabled children with and without attention-deficit hyperactivity disorder (ADHD). A restrospective (TROHOC) multimeasure comparative design was employed. Parents' and teachers' questionnaires (ANSER system) pertaining to atten...

journal_title：Journal of child neurology

authors： Tirosh E,Berger J,Cohen-Ophir M,Davidovitch M,Cohen A

更新日期：1998-06-01 00:00:00

abstract：:MECP2 duplication syndrome is an X-linked genomic disorder that is characterized by infantile hypotonia, intellectual disability, and recurrent respiratory infections. Regression affects a subset of individuals, and the etiology of regression has yet to be examined. In this study, alterations in the hypothalamus-pitui...

journal_title：Journal of child neurology

authors： Peters SU,Byiers BJ,Symons FJ

更新日期：2016-02-01 00:00:00

abstract：:During the 4-year period, 1982-1986, 18 patients presented to the Children's Hospital, Camperdown, Sydney, with the following features: (1) Recurrent "absences" clinically indistinguishable from childhood absence epilepsy, (2) Normal clinical examination, (3) Electroencephalogram (EEG) demonstrating normal waking back...

journal_title：Journal of child neurology

authors： North KN,Ouvrier RA,Nugent M

更新日期：1990-10-01 00:00:00

abstract：:To investigate the significance of electroencephalogram (EEG) discharges and their treatment, we retrospectively reviewed the charts of 22 children with atypical cognitive development that did not respond to standard educational therapy and demonstrated discharges on EEG. Most children demonstrated no obvious symptoms...

journal_title：Journal of child neurology

authors： Frye RE,Butler I,Strickland D,Castillo E,Papanicolaou A

更新日期：2010-05-01 00:00:00

abstract：:Girls with Rett syndrome display signs of neuronal dysfunction including mental retardation, seizures, stereotyped movements, and abnormal breathing and autonomic control. Decelerating head growth during infancy might reflect a disorder in production or pruning of neuronal synapses or both. Recent immunocytochemical s...

journal_title：Journal of child neurology

authors： Johnston MV,Mullaney B,Blue ME

更新日期：2003-10-01 00:00:00

abstract：:Pediatric brain tumors are the leading cause of cancer-related death during childhood. Since the first pediatric brain tumor clinical trials, the field has seen improved outcomes in some, but not all tumor types. In the past few decades, a number of promising new therapeutic agents have emerged, yet only a few of thes...

journal_title：Journal of child neurology

authors： Bornhorst M,Hwang EI

更新日期：2016-10-01 00:00:00

abstract：:Children with autistic spectrum disorder are known to have histopathological abnormalities in the cerebellum. Diffusion tensor imaging has been utilized to study abnormalities in connectivity and microintegrity in brains of such children. A region of interest approach was adopted to study cerebellar outflow and inflow...

journal_title：Journal of child neurology

authors： Sivaswamy L,Kumar A,Rajan D,Behen M,Muzik O,Chugani D,Chugani H

更新日期：2010-10-01 00:00:00

abstract：:The aim of this work was to evaluate the cognitive, language, and motor development, after 18 months of life, of nonmicrocephalic children born to mothers with Zika virus infection during pregnancy. Participants were 37 children aged 18-29 months divided into 2 groups: 17 nonmicrocephalic children born to mothers who ...

journal_title：Journal of child neurology

authors： Gerzson LR,de Almeida CS,Silva JHD,Feitosa MMA,de Oliveira LN,Schuler-Faccini L

更新日期：2020-03-01 00:00:00

abstract：:Animal models have assisted in understanding the mechanisms of brain injury underlying cerebral palsy. Nevertheless, no such models replicate every aspect of the human disease. This review summarizes the classic and more recent studies of the neuropathology of human perinatal brain injury most commonly associated with...

journal_title：Journal of child neurology

authors： Folkerth RD

更新日期：2005-12-01 00:00:00

abstract：:Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem involvement, selective contrast enhancement, and ...

journal_title：Journal of child neurology

authors： Tavasoli A,Armangue T,Ho CY,Whitehead M,Bornhorst M,Rhee J,Hwang EI,Wells EM,Packer R,van der Knaap MS,Bugiani M,Vanderver A

更新日期：2017-02-01 00:00:00

abstract：:A pseudotumoral presentation of acute hemicerebellitis is rare in pediatric age. The authors report a new single case study of a 7-year-old child with pseudotumoral unilateral cerebellitis mimicking an intracranial tumor, which clinically presented itself with signs of intracranial hypertension and mild contralateral ...

journal_title：Journal of child neurology

authors： Alberini E,Vellante V,Zennaro F,Calligaris L,Barbi E,Carrozzi M,Devescovi R

更新日期：2015-03-01 00:00:00

abstract：:An association between overweight and attention-deficit/hyperactivity disorder (ADHD) in children was previously suggested. We examined the prevalence of overweight, anthropometric changes, and the effect of methylphenidate treatment in 275 children with ADHD without neurological comorbidities and in controls. Data we...

journal_title：Journal of child neurology

authors： Dubnov-Raz G,Perry A,Berger I

更新日期：2011-03-01 00:00:00

abstract：:Although long-term follow-up data are available for cases with acute disseminated encephalomyelitis, the findings range widely because of the lack of consistent definitions. Using the International Pediatric Multiple Sclerosis Study Group definitions strictly, we determined the long-term prognosis of children with acu...

journal_title：Journal of child neurology

authors： Mar S,Lenox J,Benzinger T,Brown S,Noetzel M

更新日期：2010-06-01 00:00:00

abstract：:Neuromotor function was assessed in 94 children of normal intelligence with Tourette syndrome, Tourette syndrome and attention-deficit hyperactivity disorder (ADHD), or ADHD only, using the Physical and Neurological Examination of Subtle Signs (PANESS). Time to complete six motor movements was analyzed separately by s...

journal_title：Journal of child neurology

authors： Schuerholz LJ,Cutting L,Mazzocco MM,Singer HS,Denckla MB

更新日期：1997-10-01 00:00:00

abstract：:We aimed to decrease practice variation in treatment of neonatal status epilepticus by implementing a standardized protocol. Our primary goal was to achieve 80% adherence to the algorithm within 12 months. Secondary outcome measures included serum phenobarbital concentrations, number of patients progressing from seizu...

journal_title：Journal of child neurology

authors： Harris ML,Malloy KM,Lawson SN,Rose RS,Buss WF,Mietzsch U

更新日期：2016-12-01 00:00:00

abstract：:Idiopathic dystonia with onset in the first year of life has been described as a transient movement disorder, in contrast to other forms of idiopathic dystonia We report on a girl who showed, from her 5th month, episodes of dystonic postures of her neck and arm, which lasted for seconds and occurred several times a da...

journal_title：Journal of child neurology

authors： John B,Klemm E,Haverkamp F

更新日期：2000-12-01 00:00:00