Plasma baclofen levels in children receiving continuous intrathecal baclofen infusion.

abstract：:The goal of the research was to point out the importance of early prespeech therapy for babies suffering from at-birth-acquired unilateral or bilateral lesion in the prespeech period of development. On the basis of existing studies and experience in the field, a protocol and methodology for the observation of the phon...

journal_title：Journal of child neurology

authors： Gec V

更新日期：2007-01-01 00:00:00

abstract：:Six girls between 2 years 9 months and 15 years of age with Rett syndrome were thoroughly investigated. Blood ammonia levels varied between 42 and 123 mumol/L, and serum lactate concentration was slightly elevated in two girls. Electroencephalograms showed a dysrhythmic pattern during wakefulness; during drowsiness an...

journal_title：Journal of child neurology

authors： Eeg-Olofsson O,al-Zuhair AG,Teebi AS,Daoud AS,Zaki M,Besisso MS,Al-Essa MM

更新日期：1990-07-01 00:00:00

abstract：:Patients with partial seizures aged 1 week to 19 years (n = 175) were included in several prospective vigabatrin studies at the hospital Saint Vincent de Paul. A decrease in seizure frequency of over 50% was achieved in 70% of patients, with 30% becoming seizure free, and only 6% experiencing an increase. Tuberous scl...

journal_title：Journal of child neurology

authors： Nabbout RC,Chiron C,Mumford J,Dumas C,Dulac O

更新日期：1997-04-01 00:00:00

abstract：:Fumarase deficiency is a very rare inborn error of metabolism caused by decreased activity of fumarate hydratase enzyme. We describe a fumarase-deficient infant who presented with encephalopathy, metabolic crisis, psychomotor retardation, hypotonia, seizures, and facial dysmorphism. To our knowledge, this is the first...

journal_title：Journal of child neurology

authors： Saini AG,Singhi P

更新日期：2013-04-01 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：: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 chromos...

journal_title：Journal of child neurology

authors： Ortiz MV,Dunkel IJ

更新日期：2016-02-01 00:00:00

abstract：:Childhood disintegrative disorder, a rare, relentlessly progressive neurologic disorder, first described by Heller in 1908, remains a condition of great interest. It has long been debated whether it is a discrete disorder or simply a late-onset variant of childhood autism. We have studied 6 cases of childhood disinteg...

journal_title：Journal of child neurology

authors： Rosman NP,Bergia BM

更新日期：2013-12-01 00:00:00

abstract：:Diagnostic ultrasound has been extensively used for neurologic evaluation of cranial, vascular and spinal diseases. This study presents the techniques, methodology, and procedures for a new diagnostic application of ultrasound for evaluation of the neuromuscular system. In order to determine the optimum sonographic ch...

journal_title：Journal of child neurology

authors： Fischer AQ,Stephens S

更新日期：1988-01-01 00:00:00

abstract：: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...

journal_title：Journal of child neurology

authors： Manning KY,Menon RS,Gorter JW,Mesterman R,Campbell C,Switzer L,Fehlings D

更新日期：2016-02-01 00:00:00

abstract：:Congenital adrenal hyperplasia could provide a promising model for the study of the effects of hormones on cognition. The aim of this study was to assess sexual dimorphic abilities related to oral language, spatial abilities, and verbal fluency and to determine the existence of learning disabilities in 11 congenital g...

journal_title：Journal of child neurology

authors： Inozemtseva O,Matute E,Juárez J

更新日期：2008-08-01 00:00:00

abstract：:The failure to diagnose an ependymoma at an appropriately early age led to an incomplete excision and a tumor burden too great for radiotherapy to control. The development of normative curves for brain weight correlated with head circumference allowed for the estimates of the extremes of possible growth rates of the t...

journal_title：Journal of child neurology

authors： Alvord EC Jr

更新日期：1986-07-01 00:00:00

abstract：:The acquired alexia with agraphia syndrome is a conspicuous disorder of reading and writing in the absence of significant other language impairments that has mainly been recorded in adults. Pure cases are rare, with most patients displaying mild aphasic deficits. In children, acquired reading and writing disorders are...

journal_title：Journal of child neurology

authors： Paquier PF,De Smet HJ,Mariën P,Poznanski N,Van Bogaert P

更新日期：2006-04-01 00:00:00

abstract：:We present a case of a 1-year-old female child who was referred to the Early Intervention Clinic for evaluation of developmental delay and progressively enlarging head size. Developmental assessment revealed significant motor delay with borderline cognitive impairment. MRI of the brain revealed generalized ventriculom...

journal_title：Journal of child neurology

authors： Rai B,Sharif F

更新日期：2015-03-01 00:00:00

abstract：:The electrophysiologic findings in an infant with congenital facial diplegia (Möbius syndrome) are presented. As to serial electrically elicited blink reflexes, the R1 amplitude was significantly reduced and the R2 latency was significantly prolonged. The M response of the orbicularis oculi muscle showed slightly redu...

journal_title：Journal of child neurology

authors： Hatanaka T,Yoshijima S,Hayashi N,Owa K,Suehiro Y,Shinomiya K

更新日期：1993-04-01 00:00:00

abstract：:Neonatal seizures are one of the most common neurological disorders in infants. However, the optimal treatment strategy for neonatal seizures remains controversial and there is little data regarding current treatment of neonatal seizures. In this study we describe the current treatment of neonatal seizures and variati...

journal_title：Journal of child neurology

authors： Blume HK,Garrison MM,Christakis DA

更新日期：2009-02-01 00:00:00

abstract：:Behçet disease is a systemic vasculitis of unknown etiology that can affect the neurologic system. Neuro-Behçet disease is not well defined in children and adolescents, and the diagnosis is difficult to make in this population as they often present with insufficient symptoms to meet diagnostic criteria. Psychiatric sy...

journal_title：Journal of child neurology

authors： Patel P,Steinschneider M,Boneparth A,Lantos G

更新日期：2014-09-01 00:00:00

abstract：:Attention-deficit hyperactivity disorder (ADHD) is described as the most common neurobehavioral condition of childhood. We raise the concern that ADHD is not a disease per se but rather a group of symptoms representing a final common behavioral pathway for a gamut of emotional, psychological, and/or learning problems....

journal_title：Journal of child neurology

authors： Furman L

更新日期：2005-12-01 00:00:00

abstract：:Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathe...

journal_title：Journal of child neurology

authors： Zhang LM,An Y,Pan G,Ding YF,Zhou YF,Yao YH,Wu BL,Zhou SZ

更新日期：2015-09-01 00:00:00

abstract：: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 ...

journal_title：Journal of child neurology

authors： Lechpammer M,Wintermark P,Merry KM,Jackson MC,Jantzie LL,Jensen FE

更新日期：2016-03-01 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：:Motor speed and accuracy are both affected in childhood dystonia. Thus, deriving a speed-accuracy function is an important metric for assessing motor impairments in dystonia. Previous work in dystonia studied the speed-accuracy trade-off during point-to-point tasks. To achieve a more relevant measurement of functional...

journal_title：Journal of child neurology

authors： Lunardini F,Bertucco M,Casellato C,Bhanpuri N,Pedrocchi A,Sanger TD

更新日期：2015-10-01 00:00:00

abstract：:It was recently postulated that because increased genetic load and increased parental age are both purportedly associated with the risk to develop an autism spectrum disorder, there must be a linkage between increasing genetic load and increasing parental age in autism spectrum disorder pathogenesis. The present study...

journal_title：Journal of child neurology

authors： Geier DA,Hooker BS,Kern JK,Sykes LK,Geier MR

更新日期：2014-08-27 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：:Intravenous immunoglobulin has been reported to be an effective treatment for infantile spasms. Juvenile spasms are electrically and clinically similar to infantile spasms but occur in a later age group. We retrospectively reviewed the charts of five children (aged 4.5-11.5 years) at our institution. Their primary sei...

journal_title：Journal of child neurology

authors： Bingel U,Pinter JD,Sotero de Menezes M,Rho JM

更新日期：2003-06-01 00:00:00

abstract：:Donnai-Barrow syndrome is a rare autosomal recessive disorder first described in 1993. This report presents ocular manifestations of this rare autosomal recessive disorder through 2 additional cases. Ocular features include hypertelorism, down-slanting palpebral fissures, iris coloboma, high myopia, and retinal detach...

journal_title：Journal of child neurology

authors： Patel N,Hejkal T,Katz A,Margalit E

更新日期：2007-04-01 00:00:00

abstract：:Sonography of the posterior fontanelle is easily performed and yields exquisite details of the outline of the major structures of the posterior fossa and the tentorium. These structures are more clearly outlined through the posterior fontanelle than via the traditional anterior fontanelle approach, probably because th...

journal_title：Journal of child neurology

authors： Maertens P

更新日期：1989-01-01 00:00:00

abstract：:Managing severe epilepsy syndromes of early childhood is challenging as the seizures are typically resistant to treatment and may cause disabling mental and behavioral problems in later life. A comprehensive treatment plan includes pharmacologic, nonpharmacologic, and surgical options. This article reviews clinical st...

journal_title：Journal of child neurology

authors： Wheless JW

更新日期：2009-08-01 00:00:00

abstract：:A 10-year-old boy with tuberous sclerosis complex and macrodactyly of the right index and middle fingers is described. He also had a fibrous hamartoma at the front of the right wrist. The association of fibrous hamartoma and macrodactyly has not been previously described in tuberous sclerosis complex. ...

journal_title：Journal of child neurology

authors： Sharma S,Sankhyan N,Gulati S,Kumar A,Srinivas M,Shukla B,Mathur SR

更新日期：2011-01-01 00:00:00

abstract：:A subset of inattentive children have an underlying problem in sustaining wakefulness ("vigilance"). This disorder of vigilance, termed Weinberg's syndrome, is characterized by difficulty in maintaining wakefulness and alertness as evidenced by (among other symptoms) motor restlessness (fidgeting and moving about, yaw...

journal_title：Journal of child neurology

authors： Brumback RA

更新日期：2000-07-01 00:00:00

abstract：:Two children with isolated congenital anosmia, a rare syndrome of deficient restricted neuronal migration, are presented with early diagnosis confirmed by standardized smell testing and detailed neuroimaging studies. Recognition of this disorder and its spectrum of presentations provides important insights into the mo...

journal_title：Journal of child neurology

authors： Assouline S,Shevell MI,Zatorre RJ,Jones-Gotman M,Schloss MD,Oudjhane K

更新日期：1998-04-01 00:00:00