Cognitive and psychological profile of males with Becker muscular dystrophy.

abstract：:We report the clinical, electroencephalographic, neurophysiologic, and neuroimaging findings in eight children with infant-onset progressive myoclonus epilepsy, all of whom had muscle biopsies performed as as part of the diagnostic evaluation. Each child had myoclonic seizures, generalized tonic-clonic seizures, and n...

journal_title：Journal of child neurology

authors： Harbord MG,Hwang PA,Robinson BH,Becker LE,Hunjan A,Murphy EG

更新日期：1991-04-01 00:00:00

abstract：:Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. Epidemiologic data suggest that malnutrition is a common feature in amyotrophic lateral sclerosis and being overweight or obese confers a survival advantage in this patient population. In amyotrophic lateral sclerosis mouse models, a high-fat diet has...

journal_title：Journal of child neurology

authors： Paganoni S,Wills AM

更新日期：2013-08-01 00:00:00

abstract：:The authors conducted this study to identify whether bacille Calmette-Guérin (BCG) vaccination leads to an altered spectrum of neuroimaging findings outcome in pediatric patients with tuberculous meningitis. This retrospective study was conducted through chart review and review of computed tomography (CT) scans and ma...

journal_title：Journal of child neurology

authors： Wasay M,Ajmal S,Taqui AM,Uddin N,Azam I,Husen Y,Nizami SQ

更新日期：2010-05-01 00:00:00

abstract：:Lissencephaly is a brain malformation manifested by a smooth cerebral surface and caused by incomplete neuronal migration. Clinical sequellae include minor craniofacial changes (bitemporal hollowing, small jaw), severe mental retardation, and other neurological abnormalities. Patients with classical or type I lissence...

journal_title：Journal of child neurology

authors： Pavone L,Gullotta F,Incorpora G,Grasso S,Dobyns WB

更新日期：1990-01-01 00:00:00

abstract：:Rett Syndrome is known to occur in females, around the second year, with loss of hand use, onset of stereotypes and acquired microcephaly. Such regression is often very rapid, but this has never been documented. In one of our patients, photographs taken at different times clearly demonstrate the rapid progression of f...

journal_title：Journal of child neurology

authors： Fiumara A,Barone R,D'Asero G,Marzullo E,Pavone L

更新日期：1999-08-01 00:00:00

abstract：:Mitochondrial medicine provides a metabolic perspective on the pathology of conditions linked with inadequate oxidative phosphorylation. Dysfunction in the mitochondrial machinery can result in improper energy production, leading to cellular injury or even apoptosis. Clinical presentations are often subtle, so clinici...

journal_title：Journal of child neurology

authors： Thornton B,Cohen B,Copeland W,Maria BL

更新日期：2014-09-01 00:00:00

abstract：:Acute infantile bilateral striatal necrosis is a rarely described acute neurological syndrome associated with radiological findings. Its etiology and pathogenic mechanisms are unknown. Clinically, the syndrome usually follows respiratory illnesses and presents with an array of neurological findings, including axial at...

journal_title：Journal of child neurology

authors： Zevit N,Steinmetz A,Kornreich L,Straussberg R

更新日期：2007-10-01 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：:Familial hemophagocytic lymphohistiocytosis is an inherited deficiency of natural killer cell function and excessive cytokine activity, which predominantly presents in early childhood. The initial symptoms of familial hemophagocytic lymphohistiocytosis are often nonspecific but may be predominantly neurologic. The cas...

journal_title：Journal of child neurology

authors： Turtzo LC,Lin DD,Hartung H,Barker PB,Arceci R,Yohay K

更新日期：2007-07-01 00:00:00

abstract：:We recruited 128 neonates with hyperbilirubinemia over a 5-year period (1995-2000) to study the short- and long-term effects of hemolytic hyperbilirubinemia on the auditory brainstem pathway and neurodevelopmental status. These children were divided into two groups: (1) a hemolytic group (n = 29; ABO incompatibility [...

journal_title：Journal of child neurology

authors： Chen WX,Wong VC,Wong KY

更新日期：2006-06-01 00:00:00

abstract：:To report the authors' experience with diagnosis and management of Dravet syndrome, or severe myoclonic epilepsy in infancy, in the era of commercially available genetic testing, the authors performed a retrospective study of 16 patients diagnosed with Dravet syndrome at a tertiary care pediatric epilepsy center. They...

journal_title：Journal of child neurology

authors： Korff C,Laux L,Kelley K,Goldstein J,Koh S,Nordli D Jr

更新日期：2007-02-01 00:00:00

abstract：:The authors provide an update on most issues related to biology, diagnosis, and treatment of children with ependymoma based on a literature review. Ependymoma is the third most common brain tumor in children and overall survival ranges from 24% to 75% at 5 years. The extent of surgical resection remains the principal ...

journal_title：Journal of child neurology

authors： Zacharoulis S,Moreno L

更新日期：2009-11-01 00:00:00

abstract：:We report the case of a 15-month-old critically ill child with stimulus-induced diffuse voltage attenuation, a previously unreported electroencephalogram pattern. No clinical evidence of seizure activity was associated with these EEG changes. The patient went on to have a full recovery. This case suggests that critica...

journal_title：Journal of child neurology

authors： Losey TE,Ng YT

更新日期：2009-04-01 00:00:00

abstract：:To further delineate the clinical and developmental features of Angelman syndrome, we collected data through three sources of information: (1) physical examinations; (2) laboratory data and family questionnaire data of affected individuals; and (3) literature review. The questionnaire data describes a generally normal...

journal_title：Journal of child neurology

authors： Zori RT,Hendrickson J,Woolven S,Whidden EM,Gray B,Williams CA

更新日期：1992-07-01 00:00:00

abstract：:The objective of this study is to determine the long-term outcome of children with intractable epilepsy who have diffuse cortical hypometabolism on 2-deoxy-2-((18)F)fluoro-D-glucose positron emission tomography (FDG-PET) scans. Seventeen children with intractable epilepsy showing bilateral, diffuse cortical hypometabo...

journal_title：Journal of child neurology

authors： Shandal V,Veenstra AL,Behen M,Sundaram S,Chugani H

更新日期：2012-01-01 00:00:00

abstract：:Hypoxic-ischemic encephalopathy is an important cause of neuropsychological deficits. Little is known about brain diffusivity in these infants following cooling and its potential in predicting outcome. Diffusion tensor imaging was applied to 3 groups: (1) three infants with hypoxic-ischemic encephalopathy: cooled; (2)...

journal_title：Journal of child neurology

authors： Artzi M,Sira LB,Bassan H,Gross-Tsur V,Berger I,Marom R,Leitner Y,Bental Y,Shiff Y,Geva R,Weinstein M,Bashat DB

更新日期：2011-10-01 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：:Acute cerebellitis is a rare condition often considered within the group of acute postinfectious cerebellar ataxia despite its distinctive clinical and imaging features. We retrieved clinical, laboratory, and follow-up data of 15 children diagnosed with acute cerebellitis in our department between 2011 and 2019. There...

journal_title：Journal of child neurology

authors： Yildirim M,Gocmen R,Konuskan B,Parlak S,Yalnizoglu D,Anlar B

更新日期：2020-05-01 00:00:00

abstract：:A 14-year-old boy with an episode of acute weakness resembling acute demyelinating encephalomyelitis and polyradiculoneuritis after a febrile illness is described. Molecular analysis showed a mutation at codon 164 of the connexin 32 gene. Neuroradiological and neurophysiological follow-up is reported during acute and ...

journal_title：Journal of child neurology

authors： Fusco C,Frattini D,Pisani F,Spaggiari F,Ferlini A,Della Giustina E

更新日期：2010-06-01 00:00:00

abstract：:Neuromyelitis optica is a rare, severe idiopathic disease that predominantly involves optic nerves and spinal cord. Main clinical features of neuromyelitis optica are visual loss, paraparesis or tetraparesis, sensory loss, and sphincter dysfunction. A 13-year-old girl with vision loss and behavioral change was admitte...

journal_title：Journal of child neurology

authors： Yavuz H,Kiresi D

更新日期：2013-05-01 00:00:00

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：:If behavior results from brain function, some evidence of dysfunction could be expected in children with major behavioral problems. Yet, neurophysiologic studies in these children are frequently normal. We hypothesized a relationship between maturational asymmetry and behavior, given the role of hemispheric imbalance ...

journal_title：Journal of child neurology

authors： Gerez M,Tello A,Serrano C,Ibarra R,Mallet A

更新日期：1999-02-01 00:00:00

abstract：:Four unrelated infants with neonatal thrombocytopenia associated with congenital blindness and porencephaly have been seen over an 18-year period. The association of congenital blindness with neonatal thrombocytopenia has not previously been reported. All children had clinical purpura in the neonatal period; in three ...

journal_title：Journal of child neurology

authors： Manson J,Speed I,Abbott K,Crompton J

更新日期：1988-04-01 00:00:00

abstract：:We explored child neurologists' attitudes toward taking on the role of health care surrogate for terminally ill children. Physician members of the Child Neurology Society were sent a 16-question survey via email. Of the assumed 1050 recipients, 116 (11%) answered the questionnaire. Most individuals who have been in pr...

journal_title：Journal of child neurology

authors： Weisleder P,Perkins E,McLaughlin A

更新日期：2011-03-01 00:00:00

abstract：:Intractable epilepsies pose a therapeutic challenge. Precise localization of the epileptic focus is imperative before planning surgical intervention. Functional imaging is an important component of presurgical work-up. Positron emission tomography is unavailable in developing countries; hence, the need to evaluate the...

journal_title：Journal of child neurology

authors： Kalra V,Gulati S,Rana KS,Bal CS,Bhatia M

更新日期：2001-04-01 00:00:00

abstract：:The clinical label attention deficit hyperactivity disorder (ADHD) suggests that this syndrome is a disorder of attention. However, the presumed attentional deficits have not been linked either to specific cognitive operations or to specific neural systems. To provide this link, theories of the cognitive anatomy of at...

journal_title：Journal of child neurology

authors： Swanson JM,Posner M,Potkin S,Bonforte S,Youpa D,Fiore C,Cantwell D,Crinella F

更新日期：1991-01-01 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：:We report our experience in a cohort of patients with hyperphenylalaninemia in a tertiary care referral center in Lebanon. Forty-one sequential patients were studied: 34 classical phenylketonuria (PKU), 3 hyperphenylalaninemia (non-PKU), and 4 biopterin metabolism defects. The majority of cases were clinically diagnos...

journal_title：Journal of child neurology

authors： Karam PE,Daher RT,Moller LB,Mikati MA

更新日期：2011-02-01 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：:Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN) gene. There are two nearly identical copies of this gene present on chromosome 5q13; however, only the telomeric copy of this gene is affected in spinal muscular atrophy. In this study, we describe a new method to detec...

journal_title：Journal of child neurology

authors： Mazzei R,Conforti FL,Muglia M,Sprovieri T,Patitucci A,Magariello A,Gabriele AL,Quattrone A

更新日期：2003-04-01 00:00:00