The 14 & 6-associated clinical complex: a rejected hypothesis revisited.

abstract：:This study examines trends in corticosteroid use for males with Duchenne muscular dystrophy by birth year, race/ethnicity, and knowledge of Duchenne muscular dystrophy family history. Firstborn males (n = 521) selected from a population-based surveillance system of Duchenne muscular dystrophy were analyzed using Kapla...

journal_title：Journal of child neurology

authors： Fox DJ,Kumar A,West NA,DiRienzo AG,James KA,Oleszek J,Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

更新日期：2015-01-01 00:00:00

abstract：:This population-based cross-sectional study evaluates the clinical value of electroretinography and visual evoked potentials in childhood brain tumor survivors. A flash electroretinography and a checkerboard reversal pattern visual evoked potential (or alternatively a flash visual evoked potential) were done for 51 su...

journal_title：Journal of child neurology

authors： Pietilä S,Lenko HL,Oja S,Koivisto AM,Pietilä T,Mäkipernaa A

更新日期：2016-07-01 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：:Two siblings with familial encephalopathy, calcification of the basal ganglia, and cerebrospinal fluid lymphocytosis, constituting the triad of Aicardi-Goutieres syndrome, are reported. This syndrome resembles congenital intrauterine infections, which must be meticulously excluded. Aicardi-Goutieres syndrome is extrem...

journal_title：Journal of child neurology

authors： Koul R,Chacko A,Joshi S,Sankhla D

更新日期：2001-10-01 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：:In this article, we describe a 14-year-old boy with a confirmed diagnosis of Friedreich ataxia who underwent cardiac transplantation for left ventricular failure secondary to dilated cardiomyopathy with restrictive physiology. His neurological status prior to transplantation reflected early signs of neurological disea...

journal_title：Journal of child neurology

authors： Yoon G,Soman T,Wilson J,George K,Mital S,Dipchand AI,McCabe J,Logan W,Kantor P

更新日期：2012-09-01 00:00:00

abstract：:Three children presented with a complex syndrome of atypical psychotic and extremely immature behavior, obesity and overgrowth, borderline retardation, and seizures (prominent in two). Weight overgrowth exceeded height overgrowth and was stratospheric (up to 8 SD above mean). Obesity seemed related to lack of satiety....

journal_title：Journal of child neurology

authors： Jobe A,Lewis D,Wainwright M,DeLong GR

更新日期：2000-08-01 00:00:00

abstract：:The outcomes of children with cryptogenic seizures most probably arising from the frontal lobe are difficult to predict. We retrospectively collected data on 865 pediatric patients with epilepsy. In 78 patients with cryptogenic frontal lobe epilepsy, the age at first seizure was inversely correlated with the outcome, ...

journal_title：Journal of child neurology

authors： Lee IC,Chen YJ,Lee HS,Li SY

更新日期：2014-12-01 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：:Multiple sclerosis and acute disseminated encephalomyelitis are demyelinating disorders of the central nervous system that can present initially as an acute focal demyelinating syndrome. We report an 11-year-old girl who initially presented with intractable vomiting and hypertension and later developed a subacute onse...

journal_title：Journal of child neurology

authors： Mostafapour SP,Enzmann D,North W,Hahn JS

更新日期：1995-11-01 00:00:00

abstract：:Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also docume...

journal_title：Journal of child neurology

authors： Sarnat HB,Flores-Sarnat L,Wei XC

更新日期：2017-05-01 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：: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：:A large body of evidence suggests that genetic factors influence liability to many common neurodevelopmental disorders. Examples include Tourette syndrome, attention-deficit hyperactivity disorder, autism, and dyslexia. Characterization of the genetic component of susceptibility to these conditions at a molecular leve...

journal_title：Journal of child neurology

authors： Ryan SG

更新日期：1999-03-01 00:00:00

abstract：OBJECTIVE:To quantify the number of personnel, time to induce and complete sedation using propofol for outpatient magnetic resonance imaging (MRI) of the brain, and the frequency of serious adverse events (SAEs) in children with autism spectrum disorder (ASD) compared with children without ASD. RESULTS:Baseline charac...

journal_title：Journal of child neurology

authors： Kamat PP,Karaga MK,Wisniewski BL,McCracken CE,Simon HK,Sidhu R,Grunwell JR

更新日期：2018-04-01 00:00:00

abstract：:Neuronal ceroid lipofuscinosis is a hereditary disease, and ceroid-lipofuscinosis neuronal protein 5 (CLN5) has been proved to be associated with neuronal ceroid lipofuscinosis. Here we report 3 patients from 2 families diagnosed with CLN5 neuronal ceroid lipofuscinosis. Whole genome sequencing of DNAs from 3 patients...

journal_title：Journal of child neurology

authors： Ge L,Li HY,Hai Y,Min L,Xing L,Min J,Shu HX,Mei OY,Hua L

更新日期：2018-11-01 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 infantile form of neuronal ceroid lipofuscinosis (ie, infantile Batten disease) is the most rapidly progressing type and is caused by an inherited deficiency in the lysosomal enzyme palmitoyl protein thioesterase 1. The absence of enzyme activity leads to progressive accumulation of autofluorescent material in man...

journal_title：Journal of child neurology

authors： Sands MS

更新日期：2013-09-01 00:00:00

abstract：:We describe the brain magnetic resonance imaging (MRI) findings in eight neonates with tuberous sclerosis complex to further delineate the spectrum of characteristic findings in these patients. In addition to the previously described characteristic brain MRI findings in neonates, which included cortical tuber, transma...

journal_title：Journal of child neurology

authors： Arca G,Pacheco E,Alfonso I,Duchowny MS,Melnick SJ

更新日期：2006-04-01 00:00:00

abstract：:Acute necrotizing encephalopathy is characterized by fever, seizures, acute encephalopathy, and rapid progression to coma. It is usually associated with viral illness and shows characteristic brain magnetic resonance imaging features, including symmetrical involvement of bilateral thalami, brain stem, white matter, an...

journal_title：Journal of child neurology

authors： Lee JH,Lee M,Lee J

更新日期：2012-10-01 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：:Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 are two sides of the same coin. Both arise from mutations in the gene encoding myelin proteolipid protein. The disease spectrum for Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is extraordinarily broad, ranging from a spastic gait in the...

journal_title：Journal of child neurology

authors： Hudson LD

更新日期：2003-09-01 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：:Outcome measures should include the patient's values and preferences (from the patient's perspective) in addition to performance ratings and physiologic states. Outcome measures can assess relationships between services and interventions and their end results, can clarify which therapies are worth providing and which ...

journal_title：Journal of child neurology

authors： Ronen GM,Rosenbaum MP,Streiner DL

更新日期：2000-12-01 00:00:00

abstract：:To determine whether findings on videofluoroscopic swallow studies reveal different patterns of dysphagia between children with central and peripheral neurologic disorders, a retrospective study of 118 videofluoroscopic swallow studies was completed. There were 3 groups: cerebral palsy with only spastic features (n = ...

journal_title：Journal of child neurology

authors： van den Engel-Hoek L,Erasmus CE,van Hulst KC,Arvedson JC,de Groot IJ,de Swart BJ

更新日期：2014-05-01 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：:A nondescribed behavioral disorder was observed during wake-sleep transitions in 2 young children. Two boys had episodes of abnormal behavior in hypnagogic-and occasionally hypnopompic-periods for 1 year from the time they were 1 year and several months old. The episodes consisted of irregular body movements, which co...

journal_title：Journal of child neurology

authors： Pareja JA,Cuadrado ML,García-Morales I,Gil-Nagel A,Franch O

更新日期：2008-08-01 00:00:00

abstract：:To identify parent-reported symptoms that predict parenting stress in preschoolers with global developmental delay, 201 parents/guardians of 142 boys and 59 girls with global delay, mean age 39.1 months (range, 18 to 63 months) were studied retrospectively. Parents completed the following: (a) a semistructured intervi...

journal_title：Journal of child neurology

authors： Tervo RC

更新日期：2012-03-01 00:00:00

abstract：:From February 2006 to March 2008, 42 pregnant women homozygous for the 677CT-methylenetetrahydrofolate reductase (MTHFR) allele were recruited in our obstetrics service for pregnancy at risk. All had antithrombotic prophylaxis with low-dose aspirin and/or low-molecular-weight heparin, supplemented with folic acid. In ...

journal_title：Journal of child neurology

authors： Pogliani L,Muggiasca L,Arrigoni L,Rossi E,Zuccotti G

更新日期：2010-06-01 00:00:00

abstract：:Postictal psychoses are brief psychotic episodes that usually occur after poorly controlled partial complex seizure clusters. The psychosis commonly appears following a lucid interval, ranging from a few hours to days after seizure termination. An underlying structural brain abnormality is common and usually involves ...

journal_title：Journal of child neurology

authors： Nissenkorn A,Moldavsky M,Lorberboym M,Raucher A,Bujanover Y,Lerman-Sagie T

更新日期：1999-12-01 00:00:00