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, 1992 through June 30, 1999 we screened more than 700,000 newborns in Pennsylvania, Ohio, North Carolina, and Louisiana. We have prospectively detected 163 inborn errors of metabolism. Eighty-six patients have amino acid metabolism errors. Among them are phenylketonuria, hyperphenylalaninemia, maple syrup urine disease, and several urea cycle disorders. Thirty-two have organic acid metabolism errors, including glutaric aciduria type 1; 3-methylcrotonyl coenzyme A (CoA) carboxylase deficiency, propionic acidemia, methylmalonic acidemia, and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency; and 45 have fatty acid oxidation errors, including 36 with medium-chain acyl-CoA dehydrogenase deficiency. Details of the methodology are presented and the potential of this screening technology is discussed.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Naylor EW,Chace DHdoi
10.1177/0883073899014001021subject
Has Abstractpub_date
1999-11-01 00:00:00pages
S4-8eissn
0883-0738issn
1708-8283journal_volume
14 Suppl 1pub_type
杂志文章abstract::Primary hypertension is associated with decreased performance on neurocognitive testing and a blunted cerebrovascular reactivity to hypercapnia. Parents of 14 children with hypertension and prehypertension completed the Behavior Rating Inventory of Executive Functions. Children underwent 24-hour ambulatory blood press...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813494264
更新日期:2015-04-01 00:00:00
abstract::Children and adolescents with the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV) diagnosis of attention-deficit hyperactivity disorder (ADHD) can have comorbid conditions such as conduct disorder, oppositional defiant disorder, and obsessive-compulsive disorder (comorbid type). The purpose of our st...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738040190020201
更新日期:2004-02-01 00:00:00
abstract:BACKGROUND:We developed and validated a Spanish seizure screen for children based on a previously validated English seizure screen that could be administered by a trained research assistant in a 2-step process, approximating the clinical diagnostic process of a pediatric epilepsy specialist. This questionnaire was desi...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820978001
更新日期:2020-12-18 00:00:00
abstract::In lieu of traditional training of examiners to identify cerebral palsy on a neurologic examination at age 1 year, we proposed an alternative approach using a multimedia training video and CD-ROM we developed after a two-step validation process. We hypothesized that use of CD-ROM interactive training will lead to reli...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/08830738050200101001
更新日期:2005-10-01 00:00:00
abstract::In vivo magnetic resonance techniques such as magnetic resonance imaging (MRI) and magnetic resonance spectroscopy have been some of the most useful tools for evaluation of neurologic diseases. In subacute sclerosing panencephalitis, magnetic resonance spectroscopy can be an additional tool for evaluation of disease p...
journal_title:Journal of child neurology
pub_type: 评论,杂志文章
doi:10.1177/08830738060210022101
更新日期:2006-02-01 00:00:00
abstract::Brain tissue from three patients with a clinical diagnosis of Reye syndrome was compared with tissue from three control patients. All Reye syndrome patients demonstrated cytotoxic cerebral edema, with swelling of astrocyte foot processes, which was not seen in controls. Myelin sheath splitting was seen both in control...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389100600108
更新日期:1991-01-01 00:00:00
abstract::A 3 1/2-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory cha...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380401900403
更新日期:2004-04-01 00:00:00
abstract::We report a case of a neonate with sectional narrowing of the spinal cord on the level of T12 to L2 and a deformed vertebral body on a different level, L4. In previously described cases of sectional spinal dysgenesis, the vertebral and spinal cord malformations are usually found on the same level. Our case may represe...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101600819
更新日期:2001-08-01 00:00:00
abstract::Detecting silent cerebral infarcts on magnetic resonance images (MRIs) in children with sickle cell anemia is challenging, yet reproducibility of readings has not been examined in this population. We evaluated consensus rating, inter-, and intra-grader agreement associated with detecting silent cerebral infarct on scr...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813506491
更新日期:2014-12-01 00:00:00
abstract::To contribute to characterize electroencephalographic (EEG) activity in pediatric anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis, we reviewed electroclinical data of 5 children with anti-NMDA receptor encephalitis diagnosed in our department. We identified 4 longitudinal electroencephalographic phases: in...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813515947
更新日期:2015-02-01 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::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
pub_type: 杂志文章
doi:10.1177/0883073813488669
更新日期:2013-08-01 00:00:00
abstract::Sydenham's chorea results from group A streptococcus infection and subsequent generation of antineuronal antibodies directed at the caudate nucleus and putamen. Predominantly bilateral, in up to 30% of cases the chorea can be unilaterally restricted. Imaging studies, both structural (magnetic resonance imaging) and fu...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389901400805
更新日期:1999-08-01 00:00:00
abstract::We aimed to decrease practice variation in treatment of neonatal status epilepticus by implementing a standardized protocol. Our primary goal was to achieve 80% adherence to the algorithm within 12 months. Secondary outcome measures included serum phenobarbital concentrations, number of patients progressing from seizu...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073816664670
更新日期:2016-12-01 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
pub_type: 杂志文章
doi:10.1177/0883073810380048
更新日期:2011-03-01 00:00:00
abstract::The association between tuberous sclerosis complex and intracranial abnormalities such as hemimegalencephaly, schizencephaly, intracranial arterial aneurysms, and corpus callosum agenesis/dysplasia has been reported in the recent literature. However, the association between tuberous sclerosis complex and bilateral tem...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807304014
更新日期:2007-06-01 00:00:00
abstract::Three normal children with headache occurring only with exertion were advised to try "head cooling" (eg, immersion of the head in cold water, cold water poured over the head, application of a cold, wet towel or ice pack) at the onset of headache. The patients were followed up quarterly as outpatients, and the effectiv...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/7010.2006.00227
更新日期:2006-12-01 00:00:00
abstract::A review of the selective posterior rhizotomy procedure for reduction of spasticity in cerebral palsy is presented. The history of the procedure, selection of patients, operative technique, and results are described. The neurophysiologic basis for spasticity is considered, as well as the role of spasticity in the comp...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307389000500303
更新日期:1990-07-01 00:00:00
abstract::The purpose of this study was to determine the etiologic factors, clinical characteristics, seasonal distributions, family history, response to corticosteroid therapy, recurrence and residual paralysis rates, and factors affecting these in pediatric facial palsy. Patients aged <18 years diagnosed with acute peripheral...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819865682
更新日期:2019-12-01 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
pub_type: 杂志文章
doi:10.1177/0883073810381446
更新日期:2011-03-01 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
pub_type: 杂志文章
doi:10.1177/088307388700200105
更新日期:1987-01-01 00:00:00
abstract::We investigated familial and environmental risk factors in a cohort of South African children diagnosed with attention-deficit hyperactivity disorder (ADHD). A prospective, hospital-based case control study was conducted comprising 50 children diagnosed with ADHD and 50 matched non-ADHD controls. The adjusted effect o...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814560630
更新日期:2015-09-01 00:00:00
abstract::Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is a recently recognized autoimmune neurologic disorder that presents with severe neuropsychiatric symptoms in previously healthy children. A 4-year-old Lebanese girl presented with new-onset behavioral changes, orofacial dyskinesias, fluctuation in consciousness,...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812456085
更新日期:2013-10-01 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
pub_type: 杂志文章
doi:10.1177/08830738030180041301
更新日期:2003-04-01 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::This review summarizes what is known about the neurobiology of specific language impairment. Despite its name, specific language impairment is frequently not specific. It is common to find associated impairments in motor skills, cognitive function, attention, and reading in children who meet criteria for specific lang...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738040190070101
更新日期:2004-07-01 00:00:00
abstract::We present a case of a 1-year-old female child who was referred to the Early Intervention Clinic for evaluation of developmental delay and progressively enlarging head size. Developmental assessment revealed significant motor delay with borderline cognitive impairment. MRI of the brain revealed generalized ventriculom...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814533149
更新日期:2015-03-01 00:00:00
abstract::CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a progressive neurodegenerative condition, associated with mutations in the notch3 gene. Symptoms include migraine with aura, mood disorders, progressive cognitive decline, subcortical ischemic strokes, dementia, an...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810361382
更新日期:2010-05-01 00:00:00
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 f...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073888003001s05
更新日期:1988-01-01 00:00:00
abstract::Two pharmacoeconomic studies on the treatment of acute seizures have been conducted. In 1991, Kriel and colleagues surveyed parents of children with a history of cluster seizures, prolonged seizures, or status epilepticus who had been instructed in the use of rectal diazepam. A comparison of data before instruction wi...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073898013001081
更新日期:1998-10-01 00:00:00