Abstract：
:The discovery of new cytogenetic and molecular genetic techniques and principles has been explosive in recent years. A secure diagnosis based on molecular evidence has become possible for many syndromes previously only clinically defined, which has helped enormously in predicting children's developmental progress, in allowing knowledgeable surveillance for potential associated health problems, in genetic counseling, and in prenatal diagnosis. This article reviews several of the most significant recently described cytogenetic and molecular genetic principles and techniques in relation to the child who presents with developmental delay.
journal_name
Semin Pediatr Neuroljournal_title
Seminars in pediatric neurologyauthors
Macmillan Cdoi
10.1016/s1071-9091(98)80017-xsubject
Has Abstractpub_date
1998-03-01 00:00:00pages
39-44issue
1eissn
1071-9091issn
1558-0776pii
S1071-9091(98)80017-Xjournal_volume
5pub_type
杂志文章,评审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：: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：: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：: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
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：: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：: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：:Cerebral/cortical visual impairment (CVI) is characterized by higher order visual dysfunction caused by injury to the retrogeniculate visual pathways and brain structures which subserve visual processing. CVI has become the leading cause of significant vision loss in children in developed countries, but continues to b...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2019.05.005
更新日期：2019-10-01 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：: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：:The possibility of sudden unexpected death in people with epilepsy (SUDEP) is very frightening for parents of a child with epilepsy. The mechanism for SUDEP is unclear but is probably most commonly related to postictal respiratory insufficiency. Occasionally the cause is a cardiac arrhythmia induced by a seizure. Even...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2004.11.005
更新日期：2005-03-01 00:00:00
abstract：:Ethical issues in the critical care unit frequently arise in children with neurological problems. These ethical issues frequently challenge our medical management of such cases and can be quite problematic. This article reviews key ethical issues that may arise including informed consent, futility, justice/rationing, ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2004.03.012
更新日期：2004-06-01 00:00:00
abstract：:Antiseizure medications and dietary therapies have associated effects on the endocrine system. We provided an overview of the relationship between epilepsy treatment and bone health in children with epilepsy. Additionally, we discussed the effects of epilepsy treatment on other endocrine systems including thyroid func...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2017.10.005
更新日期：2017-11-01 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：:Pediatric neurologists frequently encounter patients who present with significant musculoskeletal pain that cannot be attributed to a specific injury or illness, which can often be defined as pain amplification syndrome (PAS). PAS in children and adolescents is the result of a heightened pain sensitivity pathway, whic...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2016.10.006
更新日期：2016-08-01 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：:Adults treated in infancy for conditions such as spina bifida and hydrocephalus are not cured of their conditions even after reaching adulthood. However, patients who have received coordinated care within a children's facility are unlikely to find the same type of coordinated care when they become adults. This article...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2009.03.004
更新日期：2009-03-01 00:00:00
abstract：:Autoimmunity is being increasingly recognized as a cause of neurologic presentations both inside and outside the intensive care unit (ICU) setting. Pediatric autoimmune neurologic diseases likely to be seen in the ICU include autoimmune encephalitidies such as N-Methyl-D-aspartate (NMDA) receptor encephalitis, central...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2014.12.008
更新日期：2014-12-01 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：: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 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：:Headache is a common problem in children and adolescents. Its recurrent and disabling nature may lead to use of neuroimaging to exclude secondary causes of headache such as Chiari I malformation (CM I). CM I has a variety of presentation with headache being the most common symptom. CM I can be asymptomatic and is also...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2016.01.001
更新日期：2016-02-01 00:00:00
abstract：:Postural tachycardia syndrome is a chronic condition with frequent symptoms of orthostatic intolerance or sympathetic activation and excessive tachycardia while standing, without significant hypotension. Orthostatic symptoms include dizziness, lightheadedness, blurring of vision, near faints, weakness in legs, poor co...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2013.01.001
更新日期：2013-03-01 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：: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：:A 13-year-old boy with Lennox-Gastaut syndrome characterized by absence, myoclonic, complex-partial, and secondarily generalized tonic-clonic seizures, presents with progressive obtundation and loss of motor and verbal skills over a 2-day period. Initial evaluation revealed therapeutic phenytoin serum concentrations. ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/s1071-9091(99)80004-7
更新日期：1999-09-01 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：:A seven year-old male presented to his pediatrician with choreiform movements and a recent history of sore throat. He was diagnosed with Sydenham's chorea based on clinical criteria and laboratory evidence. Worsening symptoms prompted a magnetic resonance imaging (MRI) of the brain which demonstrated evidence of Moyam...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2010.01.004
更新日期：2010-03-01 00:00:00
abstract：:The occurrence of seizures in the sleep state is observed in nearly one third of patients. This is caused by an intimate relationship between the physiological state of sleep and the pathological process underlying epileptic seizures. Both sleep and sleep deprivation influence the frequency of epileptiform discharges ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2008.03.007
更新日期：2008-06-01 00:00:00
