Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents.

abstract：:The attention-deficit disorder, with and without hyperactivity, is associated with defective attention, response inhibition and, in attention-deficit disorder with hyperactivity, with motor restlessness. In adults, inattention, defective response inhibition, and impersistence are more commonly seen in right hemisphere...

journal_title：Journal of child neurology

authors： García-Sánchez C,Estévez-González A,Suárez-Romero E,Junqué C

更新日期：1997-02-01 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：:The geographic distribution of multiple sclerosis (MS) may relate to the age of initial exposure and degree of sensitization to common viruses or bacteria which have proteins with epitopes (antigenic determinants) which are homologous with potentially encephalitogenic peptides in central myelin proteins, such as basic...

journal_title：Journal of child neurology

authors： Alvord EC Jr,Jahnke U,Fischer EH,Kies MW,Driscoll BF,Compston DA

更新日期：1987-10-01 00:00:00

abstract：:In this report, we have summarized our 9-year experience of over 100 proven cases of lysosomal storage disease using electron microscopic evaluation of skin biopsies as a screening tool. The skin biopsy was very specific in establishing the diagnosis in only two disorders, namely neuronal ceroid lipofuscinosis and muc...

journal_title：Journal of child neurology

authors： Prasad A,Kaye EM,Alroy J

更新日期：1996-07-01 00:00:00

abstract：:Autism is etiologically heterogeneous; medical conditions are implicated in only a minority of cases, whereas metabolic disorders are even less common. Recently, there have been articles describing the association of autism with mitochondrial abnormalities. We critically review the current literature and conclude that...

journal_title：Journal of child neurology

authors： Lerman-Sagie T,Leshinsky-Silver E,Watemberg N,Lev D

更新日期：2004-05-01 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：:At present, both migraine and tension-type headaches in children are believed to be chronic primary headaches. Meningeal signs in both cases are ignored or not examined, and the neurologic status is considered normal. This is the first study that focuses on meningeal signs in children with chronic headaches. The study...

journal_title：Journal of child neurology

authors： Almazov I,Brand N

更新日期：2006-05-01 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：:To describe the spectrum and associated clinical features of peripheral and cerebral vasculopathy in pediatric patients with neurofibromatosis type 1, children seen at a single center from 2000 to 2010 with appropriate imaging studies were identified. Scans were assessed for vascular disease by 2 pediatric neuroradiol...

journal_title：Journal of child neurology

authors： Kaas B,Huisman TA,Tekes A,Bergner A,Blakeley JO,Jordan LC

更新日期：2013-05-01 00:00:00

abstract：:To document the impact of Tourette syndrome on the health care needs of children and access to health care among youth with Tourette syndrome, parent-reported data from the 2007-2008 National Survey of Children's Health were analyzed. Children with Tourette syndrome had more co-occurring mental disorders than children...

journal_title：Journal of child neurology

authors： Bitsko RH,Danielson M,King M,Visser SN,Scahill L,Perou R

更新日期：2013-12-01 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：: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：:Development of acylcarnitine and amino acid profiling using tandem mass spectrometry, and its application for use with dried blood specimens collected on filter-paper cards, has introduced an innovative new technology for detecting inborn errors of fatty acid, organic acid, and amino acid metabolism. From November 1, ...

journal_title：Journal of child neurology

authors： Naylor EW,Chace DH

更新日期：1999-11-01 00:00:00

abstract：:After obtaining familial informed consent, between January 1996 and July 1997, 173 children (5 to 15 years old) with sickle cell disease were enrolled in a prospective multicenter study using blood screening, transcranial Doppler ultrasonography (n = 143), cerebral magnetic resonance imaging (n = 144), and neuropsycho...

journal_title：Journal of child neurology

authors： Bernaudin F,Verlhac S,Fréard F,Roudot-Thoraval F,Benkerrou M,Thuret I,Mardini R,Vannier JP,Ploix E,Romero M,Cassé-Perrot C,Helly M,Gillard E,Sebag G,Kchouk H,Pracros JP,Finck B,Dacher JN,Ickowicz V,Raybaud C,Ponce

更新日期：2000-05-01 00:00:00

abstract：:To evaluate the consistency of the Hammersmith Infant Neurological Examination scores of very-low-birth-weight infants at 6 and 12 months of age and its correlation to cranial ultrasonography findings, we designed a prospective study between January 2005 and January 2008, in the tertiary Neonatal Unit of Aristotle Uni...

journal_title：Journal of child neurology

authors： Karagianni P,Rallis D,Kyriakidou M,Tsakalidis C,Pratsiou P,Nikolaidis N

更新日期：2014-11-01 00:00:00

abstract：:Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) 677C>T mutation (MTHFR TT) has been linked to an increased risk for stroke, coronary artery disease, and migraine headaches. The authors analyzed the potential link between MTHFR 677C>T homozygosity and childhood stroke. A true association might facilita...

journal_title：Journal of child neurology

authors： Alsayouf H,Zamel KM,Heyer GL,Khuhro AL,Kahwash SB,de los Reyes EC

更新日期：2011-03-01 00:00:00

abstract：:Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is characterized by acute- or subacute-onset encephalopathy with extrapyramidal, psychiatric, and epileptic manifestations. Diagnosis is confirmed by positive antibodies to NMDA receptor in cerebrospinal fluid and serum. Eleven pediatric cases presented over a 2-y...

journal_title：Journal of child neurology

authors： Chakrabarty B,Tripathi M,Gulati S,Yoganathan S,Pandit AK,Sinha A,Rathi BS

更新日期：2014-11-01 00:00:00

abstract：:Inherited leukodystrophies are a group of diseases affecting central nervous system myelin that lead to death or significant health problems. Although for most leukodystrophies there are no curative treatments, for a handful of diseases hematopoietic stem cell transplantation (HSCT; bone marrow transplant) can stop di...

journal_title：Journal of child neurology

authors： Bonkowsky JL,Wilkes J,Shyr DC

更新日期：2018-12-01 00:00:00

abstract：:Neurologic toxicity may occur as a direct effect of cancer and its therapy or indirectly because of a dysfunctional immune system. The authors report the development of axonal neuropathy, myelopathy, and leucoencephalopathy associated with glutamic acid decarboxylase-65 (GAD) antibodies in 4 children with progressive ...

journal_title：Journal of child neurology

authors： Ledet DS,Handgretinger R,Bertorini TE,Hale GA,Ribeiro RC,Khan RB

更新日期：2008-11-01 00:00:00

abstract：BACKGROUND:Metagenomic next-generation sequencing offers an unbiased approach to identifying viral pathogens in cerebrospinal fluid of patients with meningoencephalitis of unknown etiology. METHODS:In an 11-month case series, we investigated the use of cerebrospinal fluid metagenomic next-generation sequencing to diag...

journal_title：Journal of child neurology

authors： Erdem G,Kaptsan I,Sharma H,Kumar A,Aylward SC,Kapoor A,Shimamura M

更新日期：2020-11-18 00:00:00

abstract：:Apneic neonatal seizures can present as apparent life-threatening events. We report a newborn with unexplained episodes of apnea associated with cyanosis and desaturation, starting on the first day postpartum. Biochemical tests were normal. Central nervous system infections as well as abnormalities of upper airways an...

journal_title：Journal of child neurology

authors： Khajeh L,Cherian PJ,Swarte RM,Smit LS,Lequin MH

更新日期：2014-07-01 00:00:00

abstract：:Pyridoxine-dependent seizures are a rare condition recognized when numerous seizures respond to pyridoxine treatment and recur on pyridoxine withdrawal. For decades the diagnosis was confirmed only with pyridoxine treatment withdrawal trial. Recently described biochemical and molecular pathology improved the diagnosti...

journal_title：Journal of child neurology

authors： Kaczorowska M,Kmiec T,Jakobs C,Kacinski M,Kroczka S,Salomons GS,Struys EA,Jozwiak S

更新日期：2008-12-01 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：: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：:Muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy an...

journal_title：Journal of child neurology

authors： Tsao CY,Mendell JR

更新日期：2006-02-01 00:00:00

abstract：:The level of parental stress in families of children with autism and other developmental disabilities and its association with child comorbid symptoms was studied in an ethnically diverse population, in a cross-sectional study with structured interview. The sample included 50 families of children with autism and 50 fa...

journal_title：Journal of child neurology

authors： Valicenti-McDermott M,Lawson K,Hottinger K,Seijo R,Schechtman M,Shulman L,Shinnar S

更新日期：2015-11-01 00:00:00

abstract：:Levetiracetam, one of the newer-generation antiepilepsy drugs, is not currently approved for use in children. Given its favorable efficacy, pharmacokinetic, and, particularly, safety profile in adults, we felt that it may be a useful antiepilepsy drug for children with refractory epilepsy. We treated 39 patients (mean...

journal_title：Journal of child neurology

authors： Wheless JW,Ng YT

更新日期：2002-06-01 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：:Paroxysmal tonic upgaze of childhood is an eye movement abnormality characterized by periodic episodes of conjugate upward eye deviation. Although the spectrum of paroxysmal tonic upgaze has broadened considerably, a specific pathophysiology has not been elucidated. We report an infant with paroxysmal tonic upgaze who...

journal_title：Journal of child neurology

authors： Joseph K,Avallone J,Difazio M

更新日期：2005-02-01 00:00:00

abstract：:There are limited data on the pattern and prevalence of pediatric chronic neurologic conditions in the region. Therefore, the objective of this study was to establish the prevalence of these disorders in the Kingdom of Saudi Arabia. A multistage probability sampling design was used to select a random sample of Saudi h...

journal_title：Journal of child neurology

authors： Al Salloum AA,El Mouzan MI,Al Omar AA,Al Herbish AS,Qurashi MM

更新日期：2011-01-01 00:00:00