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 afflicted experience an extensive range of neurologic disorders, from relatively mild to severe cognitive deficits. Understanding the molecular and cellular processes involved in these disorders would therefore assist in the development of prognostic tools and therapies. During the past 3 decades, mouse models have been used extensively to determine which molecules play a role in the complex regulation of corpus callosum development. This review provides an update on these studies, as well as highlights the value of using mouse models with the goal of developing therapies for human acallosal syndromes.
journal_name
Semin Pediatr Neuroljournal_title
Seminars in pediatric neurologyauthors
Donahoo AL,Richards LJdoi
10.1016/j.spen.2009.07.003subject
Has Abstractpub_date
2009-09-01 00:00:00pages
127-42issue
3eissn
1071-9091issn
1558-0776pii
S1071-9091(09)00047-3journal_volume
16pub_type
杂志文章,评审abstract::Pediatric movement disorders may present with psychiatric symptoms at many points during the course of the disease. For the relatively common pediatric movement disorder, Tourette syndrome, psychiatric comorbidities are well-described and treatment is well-studied. Managing these comorbidities may be more effective th...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2017.12.002
更新日期:2018-04-01 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
abstract::Two consanguineous siblings presented with developmental regression and emerging spasticity. Cranial magnetic resonance imaging in both showed diffuse leukoencephalopathy. Further investigation established the siblings as having complex 1 deficiency consequent to a novel homozygous mutation in NDUFV1, a nuclear-encode...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2008.10.013
更新日期:2008-12-01 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 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::It was not too long ago that being struck violently in the head or "getting your bell rung" was often brushed off as nothing to worry about. These days the pendulum has swung and there is growing appreciation that this mild traumatic brain injury (mTBI), often called concussion, must be taken seriously and is now on t...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2019.03.008
更新日期:2019-07-01 00:00:00
abstract::Although no single neurological manifestation is specific of mitochondrial encephalopathies, several neurological syndromes are clearly suggestive of the diagnosis. Muscle biopsy for histochemicals, biochemical, and mitochondrial DNA studies is frequently necessary to establish diagnosis of mitochondrial encephalopath...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(96)80032-5
更新日期:1996-12-01 00:00:00
abstract::A 6-year-old girl had reduced fetal movements, numerous apneic spells, muscle hypotonia, and developmental motor delay. Her muscle biopsy tissue showed variation in myofiber diameters, small minicores by electron microscopy, and near-uniformity of type I fibers. Although no mutations were detected in RYR1, SEPN1, and ...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2017.03.006
更新日期:2018-07-01 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::Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic aci...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2018.02.003
更新日期:2018-04-01 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::Children with neurologic conditions benefit from international conventions, and national treaties, policies and regulations that safeguard their human rights. These regulations also exist to serve as guidance in the creation of comprehensive systems of care, inclusive environments, accessible societies and communities...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2018.03.007
更新日期:2018-10-01 00:00:00
abstract::Training in child neurology requires formal training in other aspects of pediatrics. This pediatrics training affords the ability to obtain a developmentally appropriate history and physical examination at all stages of childhood and adolescence and to provide anticipatory guidance to children and families of all deve...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2011.05.007
更新日期:2011-06-01 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::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::Pediatric epileptic encephalopathies represent a clinically challenging and often devastating group of disorders that affect children at different stages of infancy and childhood. With the advances in genetic testing and neuroimaging, the etiologies of these epileptic syndromes are now better defined. The various ence...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2016.06.002
更新日期:2016-05-01 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::Childhood stoke is increasingly recognized, but studies remain largely descriptive. Important differences from adult stroke include the following: (1) frequently delayed or missed diagnosis, (2) heterogenous and overlapping risk factors, and (3) developmental differences in the cerebrovascular, neurologic, and coagula...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1053/spen.2000.20074
更新日期:2000-12-01 00:00:00
abstract::Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2015.11.001
更新日期:2015-12-01 00:00:00
abstract::Cyclic vomiting is a variant of migraine that is discussed in depth. The importance of the diagnostic criteria, differential diagnosis, supportive and pharmacologic therapies is stressed. ...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1053/spen.2001.23456
更新日期:2001-03-01 00:00:00
abstract::In this article, I consider in what sense bioethics is philosophical. Philosophy includes both analysis and synthesis. Analysis focuses on central concepts in a domain, for example, informed consent, death, medical futility, and health. It is argued that analysis should avoid oversimplification. The synthesis or synop...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2015.05.005
更新日期:2015-09-01 00:00:00
abstract::Infants with congenital infections are at high risk for developmental disabilities. Because of this increased-risk status, they require comprehensive, longitudinal follow-up that should begin in the neonatal period with sensory, developmental, and neuromotor assessments as well as neuroradiological imaging. Reassessme...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:
更新日期:1994-09-01 00:00:00
abstract::Neonatal neurocritical care is an evolving subsubspecialty whose goal is to implement neuroprotective care strategies, continuous bedside monitoring of neurologic function, and therapies in order to reduce the risk of neurologic injury and improve long-term neurodevelopmental outcomes in neonates who require intensive...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2019.08.010
更新日期:2019-12-01 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::This article contains a discussion and detailed pictorial account of diagnostic and neurosurgical therapeutic procedures used to help pediatric patients who have medically intractable epilepsy. The operations discussed are placement of sphenoidal electrodes, strips and grids, temporal and extratemporal resections, cor...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1053/spen.2000.9219
更新日期:2000-09-01 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::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::Recurrent headaches in children are most often migraines and are based in a genetic predisposition with a low headache threshold. As with any pain experience, there is a large emotional component associated with an attack of migraines that grows in amplitude as the headaches become more frequent and resistant to medic...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2010.04.002
更新日期:2010-06-01 00:00:00
abstract::Transition from pediatric to adult healthcare is a well-established challenge for individuals with neurodevelopmental disorders like cerebral palsy. With regard to ethics, some of the key aspects to explore include the following: if and how individuals feel respected during the transition process; if and how their val...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2013.06.009
更新日期:2013-06-01 00:00:00