Abstract:
:Genetic factors play an important role in childhood autism. This study is to determine the association of single-nucleotide polymorphisms in dopa decarboxylase (DDC) and dopamine receptor-1 (DRD1) genes with childhood autism, in a Chinese Han population. A total of 211 autistic children and 250 age- and gender-matched healthy controls were recruited. The severity of disease was determined by Children Autism Rating Scale scores. TaqMan Probe by real-time polymerase chain reaction was used to determine genotypes and allele frequencies of single-nucleotide polymorphism rs6592961 in DDC and rs251937 in DRD1. Case-control and case-only studies were respectively performed, to determine the contribution of both single-nucleotide polymorphisms to the predisposition of disease and its severity. Our results showed that there was no significant association of the genotypes and allele frequencies of both single-nucleotide polymorphisms concerning childhood autism and its severity. More studies with larger samples are needed to corroborate their predicting roles.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Yu H,Liu J,Yang A,Yang G,Yang W,Lei H,Quan J,Zhang Zdoi
10.1177/0883073815601496subject
Has Abstractpub_date
2016-04-01 00:00:00pages
560-4issue
5eissn
0883-0738issn
1708-8283pii
0883073815601496journal_volume
31pub_type
杂志文章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
pub_type: 杂志文章,评审
doi:10.1177/0883073809338153
更新日期:2009-08-01 00:00:00
abstract::The goal of this project was to promote bicycle helmet use via an inpatient educational program. We hypothesized that this program would increase bicycle helmet use. One hundred twenty inpatients with history of regular (>1 time per week) bicycle riding (mean age 10.0 ± 3.6 years; 67 males, 53 females; 57 whites, 59 b...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812464272
更新日期:2013-11-01 00:00:00
abstract:BACKGROUND:Moyamoya disease is a rare cerebrovascular disease characterized by progressive stenosis of the bilateral distal internal carotid arteries and their proximal branches. Both chorea and dystonia have been reported as the initial presentation of moyamoya disease. OBJECTIVE:The objective was to define the clini...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815609152
更新日期:2016-04-01 00:00:00
abstract::We reviewed cranial sonographic studies done on 108 normal newborn infants to determine the prevalence and variability in size of the cavum septi pellucidi (CSP). Infants were classified according to gestational age by 2-week intervals. At 24 weeks, only four normal scans were identified. Between 26 and 34 weeks, ten ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389200700106
更新日期:1992-01-01 00:00:00
abstract:BACKGROUND:Acute flaccid myelitis has emerged as the leading cause of acute flaccid paralysis in children. Acute flaccid myelitis leads to significant physical disability; hence, objective outcome measures to study disease severity and progression are desirable. In addition, nerve transfer to improve motor function in ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820939392
更新日期:2020-11-01 00:00:00
abstract::The use of corticosteroids for treatment of Duchenne and Becker muscular dystrophy in clinical practice from 1991 through 2005 was reviewed in a large population-based cohort (MD STARnet) of boys in 4 regional sites and 6 clinics of the United States. Corticosteroid use increased from 20% (11 of 56 individuals) in 199...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810362762
更新日期:2010-11-01 00:00:00
abstract::Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvem...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073816630087
更新日期:2016-06-01 00:00:00
abstract::The objective of this study was to determine the impact of migraine headaches on health-related quality of life among Canadian adolescents. The Canadian Community Health Survey (CCHS) collects information related to health status, health care utilization, and health determinants for the Canadian population. Analysis w...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807307987
更新日期:2008-01-01 00:00:00
abstract::Congenital lumbar spinal stenosis is believed to rarely cause neurologic symptoms during childhood. We present a 16-year-old boy with bilateral congenital clubfeet surgically corrected by tendo Achillis releases at 2 years of age who presented with progressive, bilateral footdrop. Magnetic resonance imaging of his lum...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700122
更新日期:2002-01-01 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
pub_type: 杂志文章
doi:10.1177/088307389000500311
更新日期:1990-07-01 00:00:00
abstract::Sensory rhizotomy in the treatment of spasticity has been evolving over the past century since its first use in 1888. This paper reviews its historical evolution, current physiologic basis, range in current surgical technique, and the outcome, along with complications seen over the past decade since its repopularizati...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073896011001S06
更新日期:1996-11-01 00:00:00
abstract::An infant with a neonatal form of nemaline myopathy showed ultrastructural features of muscle immaturity. Immaturity was characterized by an abnormal presence of myotubes, as well as cells in clusters within a common basement membrane and a great number of satellite cells adhering to very small muscle fibers. In addit...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389000500209
更新日期:1990-04-01 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::We describe a case of pediatric Sjögren's syndrome with progressive neurologic involvement. At age 4 years, she had been diagnosed with Melkersson-Rosenthal syndrome. After being stable with facial diplegia and swelling for 5 years, she acutely presented with diplopia, vertigo, and ataxia. Cranial magnetic resonance i...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101600911
更新日期:2001-09-01 00:00:00
abstract::To investigate the significance of electroencephalogram (EEG) discharges and their treatment, we retrospectively reviewed the charts of 22 children with atypical cognitive development that did not respond to standard educational therapy and demonstrated discharges on EEG. Most children demonstrated no obvious symptoms...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809344743
更新日期:2010-05-01 00:00:00
abstract::Neural tube defects are common birth defects, the frequency of which appears to be reduced by maternal supplementation and/or fortification of folic acid. Latin Americans have a high incidence of neural tube defects. We surveyed the dietary intake of Honduran women of childbearing age using a 24-hour dietary recall qu...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700506
更新日期:2002-05-01 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
pub_type: 杂志文章
doi:10.1177/088307388800300208
更新日期:1988-04-01 00:00:00
abstract::The past 10 years' experience with bone marrow transplantation from normal, immunologically compatible donors indicates its possible use in various neurometabolic diseases, particularly in a patient who has not suffered irreparable brain damage. This experience may be a prelude to treatment by somatic gene therapy. Th...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738920070011711
更新日期:1992-04-01 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
pub_type: 杂志文章
doi:10.1177/0883073813481403
更新日期:2014-07-01 00:00:00
abstract::The few cases of antiphospholipid syndrome that have been reported in neonates are believed to have resulted from a transplacental transfer of antiphospholipid antibodies. Here we report on a boy with a neonatal stroke revealing a de novo primary antiphospholipid, the mother being free of antiphospholipid antibodies. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811435238
更新日期:2012-10-01 00:00:00
abstract::Generalized edema can occur during the course of juvenile dermatomyositis. In this article, a 4-year-old boy with generalized nonpitting edema and proximal weakness is reported. Characteristic cutaneous lesions, laboratory tests, results of electromyography, and magnetic resonance imaging findings resulted in a diagno...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808318544
更新日期:2008-11-01 00:00:00
abstract::Reversible posterior leukoencephalopathy syndrome is an increasingly recognized disorder with typical radiologic findings of bilateral gray- and white-matter abnormalities in the posterior regions of the cerebral hemispheres. The majority of patients with reversible posterior leukoencephalopathy syndrome are adults, a...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210060901
更新日期:2006-06-01 00:00:00
abstract::Myoclonus epilepsy with ragged red fibers (MERRF) is one of the major mitochondrial encephalomyopathies. Its main clinical features are myoclonus epilepsy, ataxia, and myopathy with ragged red fibers. Whereas there is a close correlation between MERRF syndrome and the A8344G mutation of mitochondrial DNA, the reverse ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210010901
更新日期:2006-01-01 00:00:00
abstract::Despite the recent development of new antiepilepsy drugs, a significant number of children are still unable to achieve seizure freedom without side effects. Understanding the factors behind individual variability in antiepilepsy drug tolerability and dose response and incorporating these factors into a treatment plan ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738020170011301
更新日期:2002-01-01 00:00:00
abstract::Pediatric headache patients often experience significant sleep disturbance, which may be a risk factor for poor physical, academic, and emotional functioning, including increased anxiety/fear. The current retrospective cohort study of a clinical sample of youth with persistent headache aimed to examine the impact of s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819887597
更新日期:2020-03-01 00:00:00
abstract::The relationships between the Expanded Hammersmith Functional Motor Scale (HFMSE) and genotype and motor and respiratory outcomes were examined in patients with spinal muscular atrophy types II and III (n = 70). The correlation between the HFMSE and Gross Motor Function Measure was r = 0.98. Correlations between HFMSE...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811420294
更新日期:2011-12-01 00:00:00
abstract::We retrospectively analyzed the medical documentation of 194 children infected with Epstein-Barr virus. The diagnosis was based on clinical symptoms and the presence of the viral capsid antigen IgM antibody. Patients with severe neurologic complications also underwent neurologic examination, magnetic resonance imaging...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815613563
更新日期:2016-05-01 00:00:00
abstract::A 10-year-old boy with tuberous sclerosis complex and macrodactyly of the right index and middle fingers is described. He also had a fibrous hamartoma at the front of the right wrist. The association of fibrous hamartoma and macrodactyly has not been previously described in tuberous sclerosis complex. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810375616
更新日期:2011-01-01 00:00:00
abstract::Acute focal neurologic deficits are a rare but known presentation of ornithine transcarbamylase deficiency, particularly in females. We describe here a 6-year-old girl with newly diagnosed ornithine transcarbamylase deficiency who presents with an episode of acute cortical blindness lasting for 72 hours in the absence...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814535490
更新日期:2015-05-01 00:00:00
abstract::MECP2 duplication syndrome is an X-linked genomic disorder that is characterized by infantile hypotonia, intellectual disability, and recurrent respiratory infections. Regression affects a subset of individuals, and the etiology of regression has yet to be examined. In this study, alterations in the hypothalamus-pitui...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815585577
更新日期:2016-02-01 00:00:00