Abstract：
:Newborn screening has evolved from a single test for a single metabolite to a test that detects more than 90 metabolites on a single blood spot. In the past decade, the panel of newborn-screening disorders has rapidly expanded and will continue to grow as more is discovered about the human genome. It continues to be a very sensitive population screening tool that is susceptible to the status of the infant and the timing of the specimen collection. This review discusses the disorders that should be detected on neonatal bloodspot screening and what pediatric neurologists may see in those that were detected on newborn screening and treated and those that have been untreated.
journal_name
Semin Pediatr Neuroljournal_title
Seminars in pediatric neurologyauthors
Copeland Sdoi
10.1016/j.spen.2008.05.003subject
Has Abstractpub_date
2008-09-01 00:00:00pages
110-6issue
3eissn
1071-9091issn
1558-0776pii
S1071-9091(08)00046-6journal_volume
15pub_type
杂志文章,评审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：: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：: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 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：: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：: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：: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：: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：:Significant advancements have been made in early intervention programs for children with Autism spectrum disorder (ASD). However, measuring treatment response for children with ASD is difficult due to the heterogeneity of changes in symptoms, which can be subtle, especially over a short period of time. Here we outline...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2020.100806
更新日期：2020-07-01 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：: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：:Epilepsy in children is mostly diagnosed and treated in an ambulatory office setting. This article reviews the literature and offers opinions about the best practice from the time of diagnosis through to remission and beyond. The diagnosis and assignment of an epilepsy syndrome may be difficult, and even experts disag...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2006.09.001
更新日期：2006-12-01 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：: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：: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：: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：: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 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：: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：: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：: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：: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：: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：:Alpers disease is a mitochondrial depletion syndrome characterized by psychomotor retardation, intractable epilepsy, and liver failure. Polymerase gamma (POLG) gene mutations are a known cause of the disease. We describe a case in which a 14-month-old female presented with epilepsia partialis continua evolving into ge...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2010.02.012
更新日期：2010-03-01 00:00:00
abstract：:This neuropathologic case study illustrates the discovery of metachronous hemorrhagic infarcts insinuating round mass-like lesions by magnetic resonance imaging in the setting of childhood primary angiitis of the central nervous system (cPACNS) raising diagnostic awareness of this unusual presentation in a clinical an...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.spen.2014.06.001
更新日期：2014-06-01 00:00:00
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 ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(98)80017-x
更新日期：1998-03-01 00:00:00
abstract：:Herpes simplex virus type 2 (HSV-2) is known to cause acute retinal necrosis (ARN). The availability of HSV-2-specific polymerase chain reaction tests for diagnostic analysis has greatly increased our ability to discriminate ARN caused by HSV-2 from ARN caused by either herpes simplex virus type 1 or varicella zoster ...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.spen.2012.02.005
更新日期：2012-09-01 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：: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：:The paroxysmal dyskinesias (PxDs) are involuntary, intermittent movement disorders manifested by dystonia, chorea, athetosis, ballismus or any combination of these hyperkinetic disorders. Paroxysmal kinesigenic dyskinesia (PKD), one of the four main types of PxD, involves sudden attacks of dyskinesias induced by volun...
journal_title：Seminars in pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s1071-9091(02)00012-8
更新日期：2003-03-01 00:00:00
