Neuropathology of Rett syndrome.

abstract：:Autism spectrum disorders are neurodevelopmental disorders that are thought to be caused by a gene-by-environment interaction and in which various immune alterations are reported. We investigate CD4(+) T-cell cytokine profiles and subpopulations in 19-year-old monozygotic twins with autism and different comorbidities....

journal_title：Journal of child neurology

authors： Magid-Bernstein J,Mahajan K,Lincoln J,Ming X,Rohowsky-Kochan C

更新日期：2015-03-01 00:00:00

abstract：:Understanding patterns of medical comorbidity in attention-deficit/hyperactivity disorder (ADHD) may lead to better treatment of affected individuals as well as aid in etiologic study of disease. This article provides the first systematic evaluation on the medical comorbidity of ADHD in a nationally representative sam...

journal_title：Journal of child neurology

authors： Jameson ND,Sheppard BK,Lateef TM,Vande Voort JL,He JP,Merikangas KR

更新日期：2016-10-01 00:00:00

abstract：:Neuroblastoma is, at once, the most common and deadly extracranial solid tumor of childhood. Efforts aimed at targeting the neural characteristics of these tumors have taught us much about neural crest cell biology, apoptosis induction in the nervous system, and neurotrophin receptor signaling and intracellular proces...

journal_title：Journal of child neurology

authors： Schor NF

更新日期：2013-06-01 00:00:00

abstract：:Klonopin (clonazepam; Genentech Inc, South San Francisco, California) oral wafers are benzodiazepines with anticonvulsive and anxiolytic properties. Our institution has been prescribing clonazepam wafers for acute treatment of prolonged seizures for years. Patients' size determined dosing at 0.25, 0.5, 1, or 2 mg wafe...

journal_title：Journal of child neurology

authors： Troester MM,Hastriter EV,Ng YT

更新日期：2010-12-01 00:00:00

abstract：:In general, people with learning disabilities are a heterogeneous population that require a multidisciplinary evaluation and careful, well-planned intervention. Despite this heterogeneity, patterns of problems often co-occur. Therefore, diagnosticians and educators should look beyond single areas of achievement such a...

journal_title：Journal of child neurology

authors： Johnson DJ

更新日期：1995-01-01 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：:Two children with neurofibromatosis and a chief complaint of severe, episodic, unilateral facial itching were found to have brainstem glioma. Initial computerized tomography of the brain was thought to be normal, but the brainstem tumor was subsequently demonstrated on magnetic resonance imaging. The paroxysmal facial...

journal_title：Journal of child neurology

authors： Summers CG,MacDonald JT

更新日期：1988-07-01 00:00:00

abstract：:Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia. The au...

journal_title：Journal of child neurology

authors： Davis K,Holden KR,S'Aulis D,Amador C,Matheus MG,Rizzo WB

更新日期：2013-10-01 00:00:00

abstract：:The acquisition of reading is a complex neurobiologic process. Identifying the most effective instruction and remedial intervention methods for children at risk of developing reading problems and for those who are already struggling is equally complex. This article aims to provide the clinician with a review of more c...

journal_title：Journal of child neurology

authors： Alexander AW,Slinger-Constant AM

更新日期：2004-10-01 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：:The authors conducted a systematic literature review of preventive pharmacological treatments for episodic childhood migraines searching several databases through May 20, 2012. Episodic migraine prevention was examined in 24 publications of randomized controlled trials that enrolled 1578 children in 16 nonrandomized s...

journal_title：Journal of child neurology

authors： Shamliyan TA,Kane RL,Ramakrishnan R,Taylor FR

更新日期：2013-10-01 00:00:00

abstract：BACKGROUND:Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals. OBJECTIVES:To report on the quality...

journal_title：Journal of child neurology

authors： Weaver MS,Hanna R,Hetzel S,Patterson K,Yuroff A,Sund S,Schultz M,Schroth M,Halanski MA

更新日期：2020-04-01 00:00:00

abstract：:There are scarce reports of childhood stroke from China. Our objective was to describe the clinical spectrum, risk factors, and imaging characteristics of childhood stroke in China. Using a hospital discharge database, children with stroke who were first admitted from 2002 to 2011 were retrospectively enrolled. We ide...

journal_title：Journal of child neurology

authors： Deng Y,Wang Y,Yang W,Yu Y,Xu J,Wang Y,Gao B

更新日期：2015-03-01 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 3-year-old boy who had been a 23-week premature infant had subacute onset of abnormal gait, which progressed to generalized weakness with severe weakness of neck extensors. He had U waves on electrocardiography. His serum potassium was 1.8 mmol/L. The patient had a gastrostomy tube due to chronic feeding issues and ...

journal_title：Journal of child neurology

authors： Brosch JR,Sant RV,Golomb MR

更新日期：2011-03-01 00:00:00

abstract：INTRODUCTION:Since its creation, patients on ketogenic diet are told to avoid liquid medications due to theoretical concerns of "hidden" carbohydrates. However, switching from liquid to tablet formulations can be problematic, especially for infants and young children. We theorized that increasing the daily ketogenic ra...

journal_title：Journal of child neurology

authors： Haney CA,Charpentier A,Turner Z,Bessone SK,Doerrer SC,Kossoff EH

更新日期：2019-06-01 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：:Abnormal zinc metabolism in a 6-year-old male patient with Landau-Kleffner syndrome (acquired aphasia and convulsive disorder) is the subject of our report. We describe a significant decrease of erythrocyte and plasma zinc levels in the patient as compared with normal. Red blood cell zinc content is normally 38.5 +/- ...

journal_title：Journal of child neurology

authors： Lerman-Sagie T,Statter M,Lerman P

更新日期：1987-01-01 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：:This investigation correlated incidence and degree of autonomic dysfunction with the degree of motor impairment in children hospitalized with Guillain-Barré syndrome. Motor weakness varies, as does the effect on autonomic function including heart rate, vasomotor stability, sweating, continence, and blood pressure. Aft...

journal_title：Journal of child neurology

authors： Dimario FJ Jr,Edwards C

更新日期：2012-05-01 00:00:00

abstract：:Cardiomyopathy is a leading cause of death in patients with Duchenne muscular dystrophy. Congestive heart failure is often sub-clinical and unrecognized as a result of the severe physical limitations of this patient population. We report the case of a 16-year-old boy with Duchenne muscular dystrophy who demonstrated n...

journal_title：Journal of child neurology

authors： Wong BL,Mukkada VA,Markham LW,Cripe LH

更新日期：2005-03-01 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：:The goal of this study was to collect prospective longitudinal information on the development of an epidemiologically defined cohort of patients with Tourette syndrome. These data may improve prognostic understanding of the condition. This information will also be important for specification of an adult phenotype for ...

journal_title：Journal of child neurology

authors： Burd L,Kerbeshian PJ,Barth A,Klug MG,Avery PK,Benz B

更新日期：2001-06-01 00:00:00

abstract：:Actinopathies are defined by missense mutations in the ACTA1 gene coding for sarcomeric actin, of which some 70 families have, so far, been identified. Often, but not always, muscle fibers carry large patches of actin filaments. Many such patients also have nemaline myopathy, qualifying actinopathies as a subgroup of ...

journal_title：Journal of child neurology

authors： Goebel HH,Brockmann K,Bönnemann CG,Warlo IA,Hanefeld F,Labeit S,Durling HJ,Laing NG

更新日期：2004-02-01 00:00:00

abstract：:Prenatal ultrasonographic evidence of intracranial mass lesions generally results in a diagnosis of primary glial or primitive neuroectodermal neoplasm. We describe two infants, one who was stillborn at 25 weeks' estimated gestational age and one term infant who was born live and died shortly after birth with large in...

journal_title：Journal of child neurology

authors： Harris CP,Townsend JJ,Klatt EC

更新日期：1994-10-01 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：:We analyzed clinical and instrumental data of 403 consecutive newborns with gestational age from 24 to 32 weeks, admitted to the University-Hospital of Parma between January 2000 and December 2007, to evaluate the possible relationship between neonatal mortality and occurrence of neonatal seizures in very preterm newb...

journal_title：Journal of child neurology

authors： Pisani F,Copioli C,Turco EC,Sisti L,Cossu G,Seri S

更新日期：2012-10-01 00:00:00

abstract：:Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory fea...

journal_title：Journal of child neurology

authors： Jong Hee Chae,Ki Joong Kim,Yong Seung Hwang,Ki CS,Kim JW

更新日期：2007-11-01 00:00:00

abstract：:Cavernous haemangiomas, or cavernous malformations, have been reported during pregnancy, most of which have been either supratentorial or spinal lesions. We encountered a 15-year old pregnant patient with a rapidly progressive and haemorrhagic brainstem cavernous haemangioma. The case presented here describes the hist...

journal_title：Journal of child neurology

authors： Ranger AM,Chaudhary N,Avery M,Lownie S

更新日期：2013-10-01 00:00:00

abstract：:Neurofibromatosis type 1 is associated with executive dysfunctions and comorbidity with attention-deficit hyperactivity disorder (ADHD) in 30% to 50% of children. This study was designed to clarify the neurocognitive phenotype observed in neurofibromatosis type 1 by testing the hypothesis that children with neurofibro...

journal_title：Journal of child neurology

authors： Galasso C,Lo-Castro A,Di Carlo L,Pitzianti MB,D'Agati E,Curatolo P,Pasini A

更新日期：2014-10-01 00:00:00