A child with Diamond-Blackfan anemia, methylenetetrahydrofolate reductase mutation, and perinatal stroke.

abstract：:To evaluate the effect of early treatment of congenital hypothyroidism on central nervous system development, auditory brainstem evoked potentials were determined in 32 patients with hyperthyrotropinemia diagnosed during neonatal screening. The patients included 27 with congenital hypothyroidism and 5 with transient h...

journal_title：Journal of child neurology

authors： Chou YH,Wang PJ

更新日期：2002-07-01 00:00:00

abstract：:The first case of Chikungunya virus in Honduras was identified in 2014. The virus has spread widely across Honduras via the Aedes aegypti mosquito, leading to an outbreak of Chikungunya virus (CHIKV) in 2015 that significantly impacted children. A retrospective chart review of 235 children diagnosed with CHIKV and adm...

journal_title：Journal of child neurology

authors： Samra JA,Hagood NL,Summer A,Medina MT,Holden KR

更新日期：2017-07-01 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：:This study investigated the efficacy and tolerability of potassium bromide in 113 patients (aged, 1-20 years) with severe epilepsy and generalized tonic-clonic seizures. Potassium bromide was started at 45 mg/kg and raised to 70 mg/kg (median). Steady-state blood level was reached after a median of 28 days (range, 5-9...

journal_title：Journal of child neurology

authors： Korinthenberg R,Burkart P,Woelfle C,Moenting JS,Ernst JP

更新日期：2007-04-01 00:00:00

abstract：:In this study we investigated centrally mediated parasympathetic regulation of modulated cardiac vagal tone among children with severe cyanotic and pallid breath-holding spells by examining respiratory sinus arrhythmia. Respiratory sinus arrhythmia was evaluated in 41 children; 17 subjects with cyanotic breath-holding...

journal_title：Journal of child neurology

authors： DiMario FJ Jr,Bauer L,Baxter D

更新日期：1998-09-01 00:00:00

abstract：:We have established the first prospective, collaborative study of spinal muscular atrophy, the second most common neuromuscular disease of childhood. One hundred and forty-one patients have been evaluated on at least four occasions over a 3-year period. The patients have been grouped by age of onset, as well as by fun...

journal_title：Journal of child neurology

authors： Russman BS,Iannacone ST,Buncher CR,Samaha FJ,White M,Perkins B,Zimmerman L,Smith C,Burhans K,Barker L

更新日期：1992-10-01 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：:The potential benefits of functional magnetic resonance imaging (MRI) for the investigation of normal development have been limited by difficulties in its use with children. We describe the practical aspects, including failure rates, involved in conducting large-scale functional MRI studies with normal children. Two h...

journal_title：Journal of child neurology

authors： Byars AW,Holland SK,Strawsburg RH,Bommer W,Dunn RS,Schmithorst VJ,Plante E

更新日期：2002-12-01 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：:In lieu of traditional training of examiners to identify cerebral palsy on a neurologic examination at age 1 year, we proposed an alternative approach using a multimedia training video and CD-ROM we developed after a two-step validation process. We hypothesized that use of CD-ROM interactive training will lead to reli...

journal_title：Journal of child neurology

authors： Kuban KC,O'Shea M,Allred E,Leviton A,Gilmore H,DuPlessis A,Krishnamoorthy K,Hahn C,Soul J,O'Connor SE,Miller K,Church PT,Keller C,Bream R,Adair R,Miller A,Romano E,Bassan H,Kerkering K,Engelke S,Marshall D,Milow

更新日期：2005-10-01 00:00:00

abstract：:This study was conducted to determine the occurrence, severity, and risk factors of gingival enlargement in children treated with valproate and other nonvalproate antiepileptic drugs. A cross-sectional study was carried out in which data obtained from 68 epileptic children under treatment were compared with those from...

journal_title：Journal of child neurology

authors： Tan H,Gürbüz T,Dağsuyu IM

更新日期：2004-12-01 00:00:00

abstract：:Vigabatrin is an antiepileptic drug that results in higher gamma-aminobutyrate levels in the brain and retina. Vigabatrin-induced visual field defects are usually asymptomatic and only detectable by perimetry. Further, perimetry requires good cooperation, and children aged under 10 years cannot do it. Electroretinogra...

journal_title：Journal of child neurology

authors： Bakhshandeh Bali MK,Otaghsara SM,Soltansanjari M,Sadighi N,Nasehi MM,Ashrafi MR,Karimzadeh P,Taghdiri MM,Ghofrani M

更新日期：2014-06-01 00:00:00

abstract：:Using diffusion tensor imaging tractography and color-coded anisotropy map quantification, we investigated asymmetry of the arcuate fasciculus to determine language laterality in children and compared it with the Wada test. Arcuate fasciculus volume and fractional anisotropy were measured after tractography. We also q...

journal_title：Journal of child neurology

authors： Tiwari VN,Jeong JW,Asano E,Rothermel R,Juhasz C,Chugani HT

更新日期：2011-12-01 00:00:00

abstract：:To determine if parents can successfully teach their children with autism spectrum disorders to become better sleepers, we piloted small group parent education workshops focused on behavioral sleep strategies. Workshops consisted of three 2-hour sessions conducted over consecutive weeks by 2 physicians. Curricula incl...

journal_title：Journal of child neurology

authors： Reed HE,McGrew SG,Artibee K,Surdkya K,Goldman SE,Frank K,Wang L,Malow BA

更新日期：2009-08-01 00:00:00

abstract：:A 16-year-old galactosemic patient, homozygous for the 5.5-kb gene deletion, suffered severe neurologic regression following streptococcal infection. Since the gene deletion includes the promoter of interleukin-11a receptor involved in neuronal apoptosis, we questioned whether this patient had no interleukin-11a recep...

journal_title：Journal of child neurology

authors： Winter GN,Ben-Pazi H

更新日期：2015-06-01 00:00:00

abstract：:The few cases of antiphospholipid syndrome that have been reported in neonates are believed to have resulted from a transplacental transfer of antiphospholipid antibodies. Here we report on a boy with a neonatal stroke revealing a de novo primary antiphospholipid, the mother being free of antiphospholipid antibodies. ...

journal_title：Journal of child neurology

authors： Merlin E,Doré E,Chabrier S,Biard M,Marques-Verdier A,Stéphan JL

更新日期：2012-10-01 00:00:00

abstract：:Seven children with neuromuscular disease were placed on mechanical ventilation before the age of 2 years. The outcome for these patients was variable and did not correlate with primary diagnosis. There appeared to be a high correlation between the incidence of electrocardiogram changes and death. Our experience demon...

journal_title：Journal of child neurology

authors： Iannaccone ST,Guilfoile T

更新日期：1988-01-01 00:00:00

abstract：:Pyridoxine dependency and congenital hypophosphatasia are unusual metabolic disorders. We report a female infant born from healthy consanguineous parents with shortening of limbs, detected during pregnancy by ultrasonography. Immediately after delivery, the baby was admitted to the neonatal intensive care unit because...

journal_title：Journal of child neurology

authors： Nunes ML,Mugnol F,Bica I,Fiori RM

更新日期：2002-03-01 00:00:00

abstract：:The frequency of cranial autonomic symptoms in children affected by primary headaches is uncertain. The aim of our study was to estimate the frequency of symptoms in pediatric headaches and correlate it with main migraine characteristics. A questionnaire investigating the presence of cranial autonomic symptoms was adm...

journal_title：Journal of child neurology

authors： Raieli V,Giordano G,Spitaleri C,Consolo F,Buffa D,Santangelo G,Savettieri G,Vanadia F,D'Amelio M

更新日期：2015-02-01 00:00:00

abstract：:We sent questionnaires concerning the current therapy for West syndrome to 208 institutions at which pediatric care members of the Japan Epilepsy Society were working. Of these, 129 (62%) institutions responded. Vitamin B6 was the preferred first-line drug, followed by the combination of vitamin B6 and valproate or mo...

journal_title：Journal of child neurology

authors： Ito M,Seki T,Takuma Y

更新日期：2000-06-01 00:00:00

abstract：:We studied the frequency and consequences of incidental neuroimaging findings in 400 otherwise healthy, nonacute pediatric headache patients through a retrospective, cross-sectional analysis. We excluded patients with currently recommended clinical criteria to consider diagnostic neuroimaging. We categorized neuroimag...

journal_title：Journal of child neurology

authors： Graf WD,Kayyali HR,Abdelmoity AT,Womelduff GL,Williams AR,Morriss MC

更新日期：2010-10-01 00:00:00

abstract：:We retrospectively identified 15 children ages 12 years and under with anticonvulsant resistant epilepsy who underwent a temporal lobectomy at Children's Hospital, Boston, between 1978 and 1993. Our aim was to study the long-term seizure outcome. Data pertaining to preoperative evaluation, electroencephalography (EEG)...

journal_title：Journal of child neurology

authors： Sotero de Menezes MA,Connolly M,Bolanos A,Madsen J,Black PM,Riviello JJ Jr

更新日期：2001-08-01 00:00:00

abstract：:This study explored verbal, visual, motor, and tactile humor appreciation and comprehension among preschool children with epilepsy as compared with healthy children. Participants included 32 children with focal epilepsy, as well as 70 healthy controls. The results suggest that children with epilepsy assess humor dicho...

journal_title：Journal of child neurology

authors： Suits K,Tulviste T,Ong R,Tulviste J,Kolk A

更新日期：2012-03-01 00:00:00

abstract：:Sixty-four children, aged 0-17 years, undergoing ambulatory electroencephalography (EEG) were prospectively recruited during a 12-month period. The diagnostic yield of ambulatory electroencephalography was determined for each of the following groups: group 1: differentiation of seizures from nonepileptic events; group...

journal_title：Journal of child neurology

authors： Wirrell E,Kozlik S,Tellez J,Wiebe S,Hamiwka L

更新日期：2008-06-01 00:00:00

abstract：:To contribute to characterize electroencephalographic (EEG) activity in pediatric anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis, we reviewed electroclinical data of 5 children with anti-NMDA receptor encephalitis diagnosed in our department. We identified 4 longitudinal electroencephalographic phases: in...

journal_title：Journal of child neurology

authors： Nosadini M,Boniver C,Zuliani L,de Palma L,Cainelli E,Battistella PA,Toldo I,Suppiej A,Sartori S

更新日期：2015-02-01 00:00:00

abstract：:Reversible posterior leukoencephalopathy syndrome is an increasingly recognized disorder with typical radiologic findings of bilateral gray- and white-matter abnormalities in the posterior regions of the cerebral hemispheres. The majority of patients with reversible posterior leukoencephalopathy syndrome are adults, a...

journal_title：Journal of child neurology

authors： Aydin K,Elmas S,Guzes EA

更新日期：2006-06-01 00:00:00

abstract：:A 13-month-old boy presented with repeated episodes of tongue biting during sleep. On evaluation, he was found to have hereditary chin trembling, a rare autosomal dominant condition characterized by continuous or intermittent tremulous activity of the mentalis muscle. This is the first report of this kind from India. ...

journal_title：Journal of child neurology

authors： Goraya JS,Virdi V,Parmar V

更新日期：2006-11-01 00:00:00

abstract：:Morvan syndrome is a rare autoimmune disease named after the French physician Augustin Marie Morvan. It is characterized by multiple, irregular contractions of the long muscles, weakness, pruritus, hyperhidrosis, insomnia, and delirium. Here, we describe a 17-year-old young man, previously diagnosed with B-cell lympho...

journal_title：Journal of child neurology

authors： El-Bitar MK,Muwakkit SA,Abboud MR,Sawaya RA,Boustany RM

更新日期：2010-08-01 00:00:00

abstract：:The purpose of this study was to examine the psychiatric characteristics of children with Prader-Willi syndrome in Korea, focusing particularly on their behavioral problems and obsessive-compulsive spectrum symptoms. Fourteen patients with Prader-Willi syndrome, together with their parents, underwent a psychiatric int...

journal_title：Journal of child neurology

authors： Kim JW,Yoo HJ,Cho SC,Hong KE,Kim BN

更新日期：2005-02-01 00:00:00

abstract：:Glucose transporter 1 facilitates glucose transport across the blood-brain barrier. By increasing histone acetylation at the SLC2A1 promotor, valproic acid could increase SLC2A1 gene expression. This study was designed to evaluate the effects of valproic acid on glucose transport in astrocyte cultures derived from SLC...

journal_title：Journal of child neurology

authors： Kim SK,Yang H,Pascual JM,De Vivo DC

更新日期：2013-01-01 00:00:00