Abstract:
:The NeuroDevNet Autism Spectrum Disorder Demonstration Project interfaces at many levels with the network's research themes and priorities. Our interdisciplinary team aims to improve understanding of genetic factors underlying vulnerability to autism spectrum disorders (ASDs) to develop better diagnostic strategies and, ultimately, to pinpoint molecular pathways relevant to developing biologically based treatments. Linking our existing longitudinal ASD cohorts with both genetics and neuroimaging studies will provide, for the first time, integrated data on how the genetic variation influences brain and behavioral development in ASD. Importantly, as our science progresses and we translate this information to the health care system, we will also educate policy makers, media, and business, so an informed society is prepared to capitalize on new genomic advances and effectively integrate these into health services for the broader community. We believe that this research has the potential to transform assessment and care for individuals with ASD.
journal_name
Semin Pediatr Neuroljournal_title
Seminars in pediatric neurologyauthors
Zwaigenbaum L,Scherer S,Szatmari P,Fombonne E,Bryson SE,Hyde K,Anagnostou E,Brian J,Evans A,Hall G,Nicholas D,Roberts W,Smith I,Vaillancourt T,Volden Jdoi
10.1016/j.spen.2011.02.003subject
Has Abstractpub_date
2011-03-01 00:00:00pages
40-8issue
1eissn
1071-9091issn
1558-0776pii
S1071-9091(11)00004-0journal_volume
18pub_type
杂志文章abstract::Seizures are a common complication of pediatric brain tumors and their treatment. This article reviews the epidemiology, evaluation, and treatment of seizures in children with brain tumors. Seizures in known brain tumor patients may signify tumor progression or recurrence, or treatment-related brain damage, as well as...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2012.02.010
更新日期:2012-03-01 00:00:00
abstract::A 5-year-old was admitted after an episode of loss of consciousness and an episode of convulsive activity. Information that aids in differentiating seizures and syncope is discussed. ...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2008.10.003
更新日期:2008-12-01 00:00:00
abstract::Protein misfolding and aggregation are common to many disorders, including neurodegenerative diseases referred to as "conformational disorders," suggesting that alterations in the normal protein homeostasis might contribute to pathogenesis. Cells evolved 2 major components of the protein quality control system to deal...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2006.11.005
更新日期:2007-03-01 00:00:00
abstract::An 11-year-old girl presented with a syndrome of inappropriate antidiuretic hormone secretion, which was transitory and, initially, of obscure origin. Subsequently, the patient's hypothalamic disorder emerged as a component of a steroid-responsive relapsing encephalomyelitis with cerebral pathology restricted to the b...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/s1071-9091(99)80014-x
更新日期:1999-09-01 00:00:00
abstract::Infections of the central nervous system are a significant cause of neurologic dysfunction in resource-limited countries, especially in Africa. The prevalence is not known and is most likely underestimated because of the lack of access to accurate diagnostic screens. For children, the legacy of subsequent neurodisabil...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2014.02.003
更新日期:2014-03-01 00:00:00
abstract::The cerebral cortex is the area of the brain where higher-order cognitive processing occurs. The 2 hemispheres of the cerebral cortex communicate through one of the largest fiber tracts in the brain, the corpus callosum. Malformation of the corpus callosum in human beings occurs in 1 in 4000 live births, and those aff...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2009.07.003
更新日期:2009-09-01 00:00:00
abstract::Cerebral palsy (CP) registers appear to be appropriate tools for answering questions regarding the prevalence and characteristics of this common childhood disability. Registers are population databases issuing from multiple sources, relying on a clear definition and inclusion and exclusion criteria of CP, and requirin...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2004.01.004
更新日期:2004-03-01 00:00:00
abstract::The craniovertebral junction is the most complex of the axial skeleton, residing between the skull and the upper cervical spine. Congenital, developmental, and acquired bony abnormalities result in compression and distortion of the neural structures, the vertebrobasilar vascular system, and the cerebrospinal fluid cha...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(97)80038-1
更新日期:1997-09-01 00:00:00
abstract::The discipline of childhood movement disorders is an exciting new area of specialization within the field of pediatric neurology. Establishing a formal educational system is an ongoing challenge that should include the standardization of movement definitions, the development of a formal classification system for exist...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2011.05.003
更新日期:2011-06-01 00:00:00
abstract::Autism spectrum disorder (ASD) is a multifactorial, pervasive neurodevelopmental disorder defined by the core symptoms of significant impairment in social interaction and communication as well as restricted, repetitive patterns of behavior. In addition to these core behaviors, persons with ASD frequently have associat...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2020.100833
更新日期:2020-10-01 00:00:00
abstract::In this review, we discuss the important pathological lesions observed in temporal lobectomies and neocortical resections performed for medically refractory seizures in children. A higher percentage of pediatric cases appear to be "lesional" with computed tomography (CT) and magnetic resonance imaging (MRI) and abnorm...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(05)80034-8
更新日期:1995-09-01 00:00:00
abstract::In recent years, there has been increasing recognition of the impact of childhood stroke and interest in the role of drugs in the acute, chronic, and prophylactic management of this condition. Most treatment strategies are based on studies in adults with stroke, and the relative infrequency of stroke and the heterogen...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2010.10.006
更新日期:2010-12-01 00:00:00
abstract::Intracranial pressure (ICP) and skull volume are intricately related. Craniosynostosis alters skull volume, and the many forms of craniosynostosis complicate the relationship to ICP even further. Patients with single-suture synostosis are less likely to experience elevated ICP than patients in whom multiple sutures, c...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2004.11.001
更新日期:2004-12-01 00:00:00
abstract::Intermediate filament (IF) proteins are cytoplasmic and nuclear cytoskeletal proteins. Of the ~70 IF proteins, nearly 12 are found in the nervous system, where their expression is largely cell-type specific. Astrocytes express glial fibrillary acidic protein (GFAP), whereas different neuron types contain neurofilament...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2014.12.005
更新日期:2015-03-01 00:00:00
abstract::The success of transition for children and youth with neurological disorders depends on leadership from the pediatric neurology team to encourage and support the patient's firm knowledge base of the medical condition, gradual acceptance of self-management skills and confident self-advocacy. While the foundations of ef...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2020.100852
更新日期:2020-12-01 00:00:00
abstract::An estimated 10% to 40% of children with epilepsy have treatment-resistant epilepsy. Persistent seizures have negative psychosocial, behavioral, cognitive, and financial consequences and are associated with an increased mortality rate. Accurate syndromic and etiologic diagnoses are of vital importance because they may...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2011.06.002
更新日期:2011-09-01 00:00:00
abstract::Scoliosis, common in preadolescent females is a finding which warrants investigation in any other age group or if the clinical or neuroimaging features are atypical even in the preadolescent female. The cause of scoliosis are numerous but include several important conditions some of which are treatable and some of whi...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/s1071-9091(96)80011-8
更新日期:1996-09-01 00:00:00
abstract::The incidence and sex distribution of spinal cord injury (SCI) changes with age. Motor vehicle accidents, bicycle accidents, sports accidents, and violence are major causes in the pediatric population. Pulmonary complications may be severe and life-threatening in the acute phase. Chronically, the degree of ventilatory...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(03)00022-6
更新日期:2003-06-01 00:00:00
abstract::Astrocytes have long been forgotten entities in our quest to understand brain function. Over the last few decades, there has been an exponential increase in our knowledge of central nervous system (CNS) function, and, consequently, astrocytes have emerged as key figures in CNS physiology and disease. Indeed, several p...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2013.10.003
更新日期:2013-12-01 00:00:00
abstract::Migraine is a commonly occurring headache syndrome in children and adolescents. Half of all individuals destined to have migraine begin their attacks before age 20 years. It is characterized by paroxysmal headache, nausea, vomiting, and desire to sleep. On occasion, dramatic neurological symptoms and signs accompany t...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(05)80023-3
更新日期:1995-06-01 00:00:00
abstract::Many genetic conditions can result in ataxia. Careful clinical, radiologic, and genetic evaluation permits the specific diagnosis of many of these conditions, which in turn facilitates medical care for the patient and genetic counseling for the patient and family. Predictive, prenatal, and carrier testing are possible...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(03)00031-7
更新日期:2003-09-01 00:00:00
abstract::The heterogeneous childhood limb-girdle muscular dystrophies have originally been defined as a group of autosomal recessive and dominant diseases with progressive weakness and wasting of shoulder and pelvic-girdle muscles. Over the last 12 years, the underlying genetic defects for many of the diseases have been identi...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2006.06.006
更新日期:2006-06-01 00:00:00
abstract::Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, language delay, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain. Synthesis defects are treatable, therefore an earl...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2016.11.003
更新日期:2016-11-01 00:00:00
abstract::The ultimate goal of treating status epilepticus is to provide the best opportunity for a good outcome. This review discusses the current literature on the outcome after status epilepticus in children, including the risk of recurrence, morbidity, and mortality. The outcome seems most dependent on etiology, with age an...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2010.06.012
更新日期:2010-09-01 00:00:00
abstract::Cytomegalovirus (CMV) is the most common congenital virus passed from mother to fetus in the United States, and the most common acquired cause of sensorineural hearing loss. Neuroimaging in patients with symptomatic congenital CMV demonstrates abnormalities frequently, but many providers are unaware of the extent of t...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2017.03.014
更新日期:2018-07-01 00:00:00
abstract::Numerous neurosurgical approaches are available for children presenting with hypothalamic hamartomas (HHs) associated with severe epilepsy. A concern regarding the impairment of short-term memory after resective surgery is promoting the exploration of less invasive alternatives like radiosurgery. Gamma knife radiosurg...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2007.03.005
更新日期:2007-06-01 00:00:00
abstract::The organization of language-relevant brain systems was examined in normally developing and language-impaired children. Atypical patterns of brain activity were observed in subsets of children with specific language impairment (SLI) for both sensory (auditory and visual) and language processing. However, it was not th...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(97)80029-0
更新日期:1997-06-01 00:00:00
abstract::Biomarkers are central to the translational medicine strategic focus, though strict criteria need to be applied to their designation and utility. They are one of the most promising areas of medical research, but the "biomarker life-cycle" must be understood to avoid false-positive and false-negative results. Molecular...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2017.08.001
更新日期:2017-08-01 00:00:00
abstract::Velocardiofacial syndrome, also called Shprintzen syndrome or DiGeorge sequence, is one of the most common genetic disorders in humans. Caused by a microdeletion on chromosome 22, it manifests in a remarkable variety of symptoms in multiple systems. The most frequent anomalies involve palatal function, facial features...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2007.07.005
更新日期:2007-09-01 00:00:00
abstract::The interaction between sleep and headache or migraine is powerful and an elevated comorbidity between these 2 disorders has been reported in either adults or children. This comobidity is linked to common neurophysiological and neuroanatomical substrates that are genetically based strongly. The first reports on this r...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2015.04.005
更新日期:2015-06-01 00:00:00