Abstract:
:We report preliminary studies in 18 girls with Rett syndrome (15 typical, three atypical cases) who were studied using a number of neuropsychologic measures. Results indicate a relative preservation of gross motor and daily living skills at the developmental level of the age of onset of the condition. Other adaptive functions were more depressed. Higher levels of object permanency were found in this population than reported previously. Our results indicate that islands of motor and intellectual function persist in Rett syndrome patients. These data may be useful for therapeutic intervention.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Fontanesi J,Haas RHdoi
10.1177/0883073888003001s05subject
Has Abstractpub_date
1988-01-01 00:00:00pages
S20-4eissn
0883-0738issn
1708-8283journal_volume
3 Supplpub_type
杂志文章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
pub_type: 杂志文章
doi:10.1177/0883073811416363
更新日期:2012-01-01 00:00:00
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
pub_type: 杂志文章
doi:10.1177/088307389100600207
更新日期:1991-04-01 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
pub_type: 杂志文章
doi:10.1177/08830738060210021601
更新日期:2006-02-01 00:00:00
abstract::The clinical picture, family history, laboratory data, treatment modalities, and outcome in 27 juvenile myasthenics seen over a 25-year period are presented. Onset was after 10 years of age in the majority of patients. Half presented with ocular signs, the other half with generalized-onset myasthenia. Half of those wi...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307389300800422
更新日期:1993-10-01 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
pub_type: 杂志文章,多中心研究
doi:10.1177/088307389200700403
更新日期:1992-10-01 00:00:00
abstract::Congenital adrenal hyperplasia could provide a promising model for the study of the effects of hormones on cognition. The aim of this study was to assess sexual dimorphic abilities related to oral language, spatial abilities, and verbal fluency and to determine the existence of learning disabilities in 11 congenital g...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808315618
更新日期:2008-08-01 00:00:00
abstract::This article describes the neurologic presentations of children with mitochondrial disorders. The charts of 42 children with highly suspect mitochondrial disorders were reviewed. Thirty-seven children were diagnosed as having definite mitochondrial disorders based on a suggestive clinical presentation and at least one...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500110
更新日期:2000-01-01 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
pub_type: 杂志文章
doi:10.1177/08830738050200021601
更新日期:2005-02-01 00:00:00
abstract::We report a juvenile patient who developed vertebrobasilar occlusion following nonpenetrating head and neck trauma, with complete recovery. The patient presented with transient signs of brain-stem dysfunction that were secondary to embolization and/or extension of a thrombus. He was treated with anticoagulants. We hav...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307389000500314
更新日期:1990-07-01 00:00:00
abstract::A child suffered from herpes simplex virus encephalitis at the age of 6 months; a late relapse occurred 8.5 years after the initial episode, the longest latency period reported. Radiologic and autopsy findings suggest local reactivation of latent herpes simplex virus as the cause of relapse. All cases of late relapse ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073807309243
更新日期:2008-03-01 00:00:00
abstract::There is strong evidence for a loss of habituation during cognitive processing in migraine as measured by P300 and contingent negative variation in adults. Event-related potentials evoked by an oddball paradigm have not yet been studied in children and adolescents suffering from different primary headache types. We re...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389801300703
更新日期:1998-07-01 00:00:00
abstract::In the literature, several malformations of cortical development have been described as additional lesions in tuberous sclerosis complex. Among these lesions, a very large focal cortical dysplasia has peculiar magnetic resonance imaging features: a signal abnormality that extends radially inward toward the lateral ven...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738020170101601
更新日期:2002-10-01 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
pub_type: 杂志文章,多中心研究
doi:10.1177/088307380001500510
更新日期:2000-05-01 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
pub_type: 杂志文章,评审
doi:10.1177/08830738040190091401
更新日期:2004-09-01 00:00:00
abstract::We report a 6-month-old boy with diffuse hypertonia and developmental delay who had unilateral separated-lip schizencephaly and contralateral polymicrogyria. The contralateral polymicrogyria was associated with an incomplete clefting in that hemisphere. An umbilical cord hamartoma is presumed to have caused hypoperfus...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180031401
更新日期:2003-03-01 00:00:00
abstract::Minimal evidence exists about the risk of recurrent childhood acute ischemic stroke in patients subjected to a subsequent head or neck injury. Recurrent or multiple dissections have been demonstrated in select cases. Minor head trauma has also been associated with acute ischemic stroke. The objective of this study was...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807306271
更新日期:2007-08-01 00:00:00
abstract::To identify early predictive factors of outcome in childhood epilepsy, the case records of all children with new-onset epilepsy presenting to a single neurology practice over a 10-year interval were reviewed. Only children with more than 2 years of follow-up were included. Cox regression analysis was used to identify ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738050200110701
更新日期:2005-11-01 00:00:00
abstract::Primary spinal atypical teratoid/rhabdoid tumor is extremely rare. The authors present a case of atypical teratoid/rhabdoid tumor occurring in a 4-year-old girl. Magnetic resonance imaging The authors showed an intramedullary mass extending from the bulbomedullary junction to T1 with leptomeningeal dissemination. The ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808319319
更新日期:2008-12-01 00:00:00
abstract::Six cases of childhood multiple sclerosis (MS) are presented. All patients (three boys and three girls) were black and came from the Washington, DC, metropolitan area. Age at onset of the disease ranged from 8 to 17 years. Although motor deficits, optic neuritis, and ataxia were similar to those previously reported in...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389100600112
更新日期:1991-01-01 00:00:00
abstract::Acute disseminated encephalomyelitis is a monophasic inflammatory demyelinating disease of the central nervous system involving the white matter, and to a lesser extent, the gray matter. Bilateral thalamic lesions have been reported in 12% of pediatric patients with acute disseminated encephalomyelitis. In most cases,...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808331364
更新日期:2009-08-01 00:00:00
abstract::Assessment of upper limb function, kinematic analysis, and dystonia in patients with spastic diplegia cerebral palsy and periventricular leukomalacia. Seven children with spastic diplegia cerebral palsy and 8 controls underwent upper limb kinematics. Movement duration, average and maximum linear velocity, index of cur...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073817722451
更新日期:2017-10-01 00:00:00
abstract::To study the cognitive profile and scholastic performance of children with parenchymal neurocysticercosis. A total of 500 children with a diagnosis of neurocysticercosis and epilepsy registered in our pediatric neurocysticercosis clinic between January 1996 and December 2002 were enrolled. Patients were evaluated for ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073818766985
更新日期:2018-06-01 00:00:00
abstract::Visual electrophysiological techniques represent excellent means for assessing retinal, optic pathways and visual cortex function. Electroretinograms, visual evoked potentials, and clinical records of 17 patients with mucopolysaccharidosis registered in the neurophysiological database of our institution were reviewed ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812453322
更新日期:2013-10-01 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
pub_type: 杂志文章
doi:10.1177/0883073808331348
更新日期:2009-08-01 00:00:00
abstract::The relationship between somatic growth and neurocognitive outcome was studied in a cohort of 136 children with intrauterine growth retardation. The children were followed up from birth to 9 to 10 years of age by annual measurements of growth parameters, neurodevelopmental evaluations, and IQ. The rate of catch-up for...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808331082
更新日期:2009-07-01 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
pub_type: 杂志文章
doi:10.1177/0883073811402346
更新日期:2011-10-01 00:00:00
abstract::An association between overweight and attention-deficit/hyperactivity disorder (ADHD) in children was previously suggested. We examined the prevalence of overweight, anthropometric changes, and the effect of methylphenidate treatment in 275 children with ADHD without neurological comorbidities and in controls. Data we...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810380051
更新日期:2011-03-01 00:00:00
abstract::Fusiform dilation of the internal carotid artery complicates aggressive craniopharyngioma resection and occurs mainly in children. We report a case to describe the availability of endovascular treatment for this rare entity. A 13-year-old boy presented with headache for 2 years after resection of craniopharyngioma. A ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814552105
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
pub_type: 杂志文章
doi:10.1177/0883073810382142
更新日期:2011-03-01 00:00:00
abstract::The cerebellum undergoes a protracted development, making it particularly vulnerable to a broad spectrum of developmental events. Acquired destructive and hemorrhagic insults may also occur. The main steps of cerebellar development are reviewed. The normal imaging patterns of the cerebellum in prenatal ultrasound and ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073811420148
更新日期:2011-12-01 00:00:00