Abstract:
:A large body of evidence suggests that genetic factors influence liability to many common neurodevelopmental disorders. Examples include Tourette syndrome, attention-deficit hyperactivity disorder, autism, and dyslexia. Characterization of the genetic component of susceptibility to these conditions at a molecular level should improve classification, elucidate fundamental neurobiologic mechanisms of disease, and suggest novel approaches to treatment. Susceptibility loci for complex traits could be identified by detecting linkage to a well-mapped genetic marker or by detecting association with a putative high-risk allele at a candidate locus. This article reviews the principles underlying these complementary approaches, and notes recent progress in specific conditions. As the molecular epidemiology of susceptibility to common neurodevelopmental disorders emerges, it might be increasingly possible to identify "high-risk" and "low-risk" genotypes. Clinicians should understand the nature of this kind of information in order to appreciate its power as well as its limitations.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Ryan SGdoi
10.1177/088307389901400310subject
Has Abstractpub_date
1999-03-01 00:00:00pages
187-95issue
3eissn
0883-0738issn
1708-8283journal_volume
14pub_type
杂志文章,评审abstract::To determine whether findings on videofluoroscopic swallow studies reveal different patterns of dysphagia between children with central and peripheral neurologic disorders, a retrospective study of 118 videofluoroscopic swallow studies was completed. There were 3 groups: cerebral palsy with only spastic features (n = ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813501871
更新日期:2014-05-01 00:00:00
abstract::Ethical problems related to intensive care of extremely preterm newborns of < or = 25 weeks' gestational age and at risk of disability have been extensively debated. The Bioethical Committee of the Department of Paediatrics of the University Hospital of Padua organized and started a multidisciplinary group to release ...
journal_title:Journal of child neurology
pub_type: 指南,杂志文章,实务指引
doi:10.1177/088307380401900106011
更新日期:2004-01-01 00:00:00
abstract::Pediatric brain tumors are the leading cause of cancer-related death during childhood. Since the first pediatric brain tumor clinical trials, the field has seen improved outcomes in some, but not all tumor types. In the past few decades, a number of promising new therapeutic agents have emerged, yet only a few of thes...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073815604221
更新日期:2016-10-01 00:00:00
abstract::Three patients with Leigh's syndrome developed respiratory failure following general anesthesia. Although all three had respiratory symptoms prior to the anesthetic, the diagnosis was not suspected at the time of the procedure in two of the children. We reviewed the case notes of 16 other patients with Leigh's syndrom...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389000500214
更新日期:1990-04-01 00:00:00
abstract::On April 19, 1995, Oklahoma City (and the United States) lost its innocence. Almost all Oklahomans can relate exactly what they were doing either at 9:02 AM that day or when they first learned of the bombing. Of course, the whole world watched the events unfold through around-the-clock television coverage. One of the ...
journal_title:Journal of child neurology
pub_type: 传,历史文章,杂志文章
doi:10.1177/088307389501000510
更新日期:1995-09-01 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::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::This article assessed how Indian providers and mothers value quality of life in pediatric disabilities, hypothesizing lower values with increasing disability, lower values among providers than mothers, and lower values among mothers with versus mothers without a disabled child. We asked 175 participants: "If born tomo...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073818773941
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:To analyze the available literature on papilledema in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), report the first detailed pediatric case, and explore the underlying pathophysiology. METHODS:First, we conducted a comprehensive literature review of all cases of papilledema in CIDP. Next...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820925302
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVE:Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. METHODS:Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073817712589
更新日期:2017-09-01 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
pub_type: 杂志文章
doi:10.1177/088307380201700204
更新日期:2002-02-01 00:00:00
abstract::Clinical and subclinical seizures occur frequently among children with autistic spectrum disorders. Electrographic status epilepticus in sleep, or continuous spike-wave in slow-wave sleep, is a typical feature of acquired epileptic aphasia and Landau-Kleffner syndrome. Seizures and epilepsy are more common among child...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307380401900106
更新日期:2004-08-01 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::Duchenne muscular dystrophy results in a broad spectrum of physical and psychosocial consequences, both to patient and caregivers. This study was aimed to explore health-related quality of life and its possible determinants in Duchenne muscular dystrophy children and in their parents. Caregivers (21 mothers and 6 fath...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810389043
更新日期:2011-06-01 00:00:00
abstract::Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073818802724
更新日期:2018-12-01 00:00:00
abstract::A 15-month-old girl demonstrated progressive weakness in all limbs. Magnetic resonance imaging (MRI) on admission revealed (1) diffuse and symmetric cervical cord swelling, (2) diffuse decrease and increase in signal intensity within the affected cord on T1- and T2-weighted images, respectively, (3) preserved anatomic...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389200700214
更新日期:1992-04-01 00:00:00
abstract::Cerebral vasculitis and clinically important myocardial inflammation are rare in juvenile dermatomyositis. We report a previously healthy 6-year-old girl with dermatomyositis who died after a fulminating clinical deterioration. Postmortem examination of the heart revealed characteristic endothelial tubuloreticular agg...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389400900315
更新日期:1994-07-01 00:00:00
abstract::Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem involvement, selective contrast enhancement, and ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073816673263
更新日期:2017-02-01 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
pub_type: 杂志文章
doi:10.1177/0883073816653782
更新日期:2016-10-01 00:00:00
abstract::Epilepsy, together with mental retardation, represents a common manifestation of chromosomal aberrations. Specific electroencephalographic (EEG) and epileptic patterns have been described in several chromosomal disorders, such as Angelman's syndrome, Miller-Dieker syndrome, Wolf-Hirschhorn syndrome, and ring 20 syndro...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380401900807
更新日期:2004-08-01 00:00:00
abstract::A case of a 5-day-old newborn with rhizomelic chondrodysplasia punctata was investigated with multivoxel magnetic resonance spectroscopy, including chemical shift imaging maps, which disclosed a decrease in the choline peak and the choline signal intensity, respectively, in the right cerebral hemisphere. This is the s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738050200081401
更新日期:2005-08-01 00:00:00
abstract::Fifty-three (5%) of 1064 consecutively imaged children showed an arterial vascular pattern on magnetic resonance images, accounting for 12% of all abnormal studies. Signal abnormalities on T2-weighted scans persisted years after the clinical stroke occurrence. Ipsilateral atrophy of the pons or midbrain was found in 2...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389100600311
更新日期:1991-07-01 00:00:00
abstract::Attention Deficit Hyperactivity Disorder (ADHD) is associated with altered cerebellar volume and cerebellum is associated with cognitive performance. However there are mixed results regarding the cerebellar volume in young patients with ADHD. To clarify the size and direction of this effect, we conducted the analysis ...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/0883073816678550
更新日期:2017-02-01 00:00:00
abstract::Despite remarkable growth in the clinical neurology literature, there is little research on peer review and biomedical publication in neurology. Biomedical publication research encompasses every step of the research process, from the methodology to the publication of research findings. Some general medical journals ha...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073810374647
更新日期:2010-10-01 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::As a community, physicians with expertise in child development and an appreciation of school-related challenges are uniquely positioned to enhance the well-being of children with specific learning disabilities. Efforts in such areas as differential diagnosis, enhancing communication between home and school and among p...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:
更新日期:2004-10-01 00:00:00
abstract::Current guidelines permitting return to play for athletes who have sustained a concussion rely on resolution of cognitive and physical symptoms. Evolving evidence suggest that vascular, radiologic and cerebral metabolic abnormalities persist in some athletes beyond the period of clinical recovery. This commentary addr...
journal_title:Journal of child neurology
pub_type: 社论
doi:10.1177/0883073818790169
更新日期:2018-10-01 00:00:00
abstract:BACKGROUND:The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor decline. Atypical phenotypes exhibit variable time of onset, symptomatology, ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820977997
更新日期:2020-12-23 00:00:00
abstract::Patients with partial seizures aged 1 week to 19 years (n = 175) were included in several prospective vigabatrin studies at the hospital Saint Vincent de Paul. A decrease in seizure frequency of over 50% was achieved in 70% of patients, with 30% becoming seizure free, and only 6% experiencing an increase. Tuberous scl...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/088307389701200304
更新日期:1997-04-01 00:00:00
abstract::The purpose of this study was to determine whether children with epilepsy undergoing valproate therapy and who are otherwise healthy have lower levels of serum and muscle carnitine. A total of 50 patients with epilepsy, 3 to 14 years of age, who were treated solely with valproate and free of abnormal neurologic findin...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/0883073808321060
更新日期:2009-01-01 00:00:00