Abstract：
:Rett syndrome, a neurogenetic disorder predominantly affecting females, has many characteristic features including psychomotor retardation, impaired language development, hand stereotypies, gait dysfunction, and acquired microcephaly. Although each of these features undoubtedly contributes to the morbidity of this neurologic disorder, epilepsy is perhaps one of the most well-described and problematic, affecting as many as 50%-90% of patients. Seizures can often be refractory, requiring polytherapy and consideration of nonpharmacologic management (e.g., ketogenic diets and vagus nerve stimulation). In addition, many nonepileptic symptoms of Rett syndrome can occasionally be difficult to differentiate from seizures making clinical management and family counseling challenging. Our goal in this review is to better define the clinical and electrophysiological aspects of the epilepsy associated with Rett syndrome and provide practical guidance regarding management.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Dolce A,Ben-Zeev B,Naidu S,Kossoff EHdoi
10.1016/j.pediatrneurol.2012.11.001subject
Has Abstractpub_date
2013-05-01 00:00:00pages
337-45issue
5eissn
0887-8994issn
1873-5150pii
S0887-8994(12)00513-9journal_volume
48pub_type
杂志文章,评审abstract：:We assess the prevalence of vision problems in a cohort of low birth weight infants at age 2 years and the relationship of these problems to neonatal brain injury. Data on prenatal and neonatal history and brain injury status were prospectively collected on 721 children weighing 500-2,000 gm at birth enrolled in a mul...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章,多中心研究
doi：10.1016/0887-8994(96)00051-3
更新日期：1996-05-01 00:00:00
abstract：:Cerebral cavernous malformations are the second most common vascular malformations in the central nervous system, and over one-third are found in children. Lesions may be solitary or multiple, be discovered incidentally, be sporadic, or be secondary to familial cavernomatosis or radiation therapy. Children may present...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2020.11.004
更新日期：2020-11-27 00:00:00
abstract：:The brain structure of 14 infants born with congenital myotonic dystrophy at 2 hospitals was evaluated by cranial ultrasonography, and the findings were correlated with clinical and neuropathologic data. Ventricular dilation was diagnosed in 11 infants (78%). Seven infants died during the neonatal period; all had vent...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(91)90102-q
更新日期：1991-01-01 00:00:00
abstract：:Transcranial magnetic stimulation and motor performance tests were used to study the correlation between corticospinal maturation and actual motor performance in a group of young school children (n = 10, mean age = 7 years, age range = 6-9 years). The results were compared with normal adults (n = 10, mean age = 24 yea...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章
doi：10.1016/s0887-8994(98)00057-5
更新日期：1998-09-01 00:00:00
abstract：:Amphetamine-derived medications are being prescribed with increasing frequency to younger pediatric patients to treat attention deficit hyperactivity disorder. Although choreiform movements were reported in adults with amphetamine abuse and in those under therapeutic treatment for attention deficit hyperactivity disor...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.05.013
更新日期：2012-09-01 00:00:00
abstract：:We report on a 16-year-old girl with muscular atrophy of a distal upper extremity (Hirayama disease). The disease progressed insidiously, and during our first examination, she exhibited weakness and wasting in the right hand, accompanied by cold paresis. No sensory disturbance was evident. A nerve conduction test reve...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.03.015
更新日期：2010-08-01 00:00:00
abstract：:Three children ranging in age from 2 to 5 years with acute disseminated encephalomyelitis (ADEM) were successfully treated with high-dose intravenous immunoglobulin (IVIG). Their symptoms were somnolence, fever, headache, vomiting, and resting tremor. In all of these patients, it was difficult to distinguish the condi...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(99)00042-9
更新日期：1999-08-01 00:00:00
abstract：BACKGROUND:Clinically mild encephalopathy with a reversible splenial lesion (MERS) is the second commonest cause of encephalopathy. Several pathogens have been detected in patients with MERS type 2, such as influenza A and B, but little is known about the proportion of cases of MERS type 2 with this pathogenesis. Human...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2020.08.021
更新日期：2020-12-01 00:00:00
abstract：:Continuous electroencephalographic monitoring often detects nonconvulsive seizures in critically ill children, but it is resource-intense and has not been demonstrated to improve outcomes. As institutions develop clinical pathways for monitoring, they should consider how seemingly minor variations may exert substantia...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2011.12.009
更新日期：2012-03-01 00:00:00
abstract：BACKGROUND:Comorbidities including hearing impairment occur commonly in individuals with cerebral palsy (CP). METHODS:Hearing impairment was assessed in a registry-derived population-based sample of children with CP. RESULTS:Hearing impairment was documented in 12.7% (27 of 212) with less than a quarter of these (or ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.07.005
更新日期：2014-11-01 00:00:00
abstract：:Vanishing white matter disease is a chronically progressive leukodystrophy with periods of acute deterioration after head trauma and febrile illness. This report describes a child with genetically and clinically confirmed vanishing white matter disease exhibiting frequent episodes of right-sided hemiplegia, aphasia, a...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.12.014
更新日期：2006-07-01 00:00:00
abstract：:Headache hygiene refers to self-management behaviors and practices aimed at reducing headache-related disability and improving self-efficacy. Although self-management interventions have an established place in the management of a wide range of chronic conditions, there is still not a standardized approach to this in p...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2019.10.002
更新日期：2020-02-01 00:00:00
abstract：:Nerve growth factor (NGF) in cerebrospinal fluid was measured by ELISA in ten children with postinfectious diseases and in five children with diseases suggested to be of autoimmune etiology. Three groups of patients were studied: (1) those with moderately elevated concentrations (50.67 +/- 17.02 pg/mL, mean and SEM), ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)00204-x
更新日期：1998-03-01 00:00:00
abstract：:Cerebral perfusion pressure (CPP), believed to be a major determinant of neurologic outcome, was monitored at the bedside of high-risk premature newborns during the first few days of life. Intraventricular hemorrhage was presumed to have occurred in only one of the seven infants and was associated with ventriculomegal...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(86)90048-2
更新日期：1986-07-01 00:00:00
abstract：:An 11-year-old male was admitted with inability to walk and speech abnormality. He was diagnosed with subacute sclerosing panencephalitis on the basis of clinical and laboratory findings. Therapy with inosiplex (100 mg/kg/day orally) plus intrathecal interferon-alpha (3 million units/dose twice per week) and ribavirin...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(03)00040-7
更新日期：2003-07-01 00:00:00
abstract：:Oxcarbazepine, a carbamazepine analog, was approved for use as an antiepileptic agent in the United States in 2000. A search of the United States Food and Drug Administration's Adverse Event Reporting System identified nine cases of oxcarbazepine-associated angioedema in pediatric patients aged 16 years and younger. W...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2007.03.010
更新日期：2007-08-01 00:00:00
abstract：:Traumatic spinal epidural hematoma (TSEH) is rare in children. Only three cases of TSEH were documented in the pediatric literature. This clinical note presents an infant with TSEH but no risk factors. Without magnetic resonance imaging examination, children with TSEH and minor symptoms may be missed and under reporte...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(00)00151-x
更新日期：2000-07-01 00:00:00
abstract：:The contribution of intrapartum hypoxia-ischemia to neonatal encephalopathy in the larger preterm infant remains poorly defined. Such infants could become potential candidates for neuroprotective strategies. The objective of this study was to determine in preterm infants of gestation 31 to 36 weeks, with severe fetal ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2004.06.016
更新日期：2005-01-01 00:00:00
abstract：:Pseudoaneurysm of the internal carotid artery is an extremely uncommon complication of pediatric deep neck space infections in the postantibiotic era, and poses a diagnostic challenge to clinicians. Early recognition and aggressive management are essential to prevent mortality and serious morbidity. We describe a pseu...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.06.008
更新日期：2012-10-01 00:00:00
abstract：:A group of children and adolescents with infantile nephropathic cystinosis underwent cognitive testing and were examined for cortical atrophy using magnetic resonance imaging or computed tomography. Ten of 11 patients demonstrated cortical atrophy. A consistent pattern of lower cognitive performance was found in patie...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(90)90004-k
更新日期：1990-11-01 00:00:00
abstract：:The most effective method for the screening and monitoring of optic pathway gliomas in children with neurofibromatosis type 1 remains a dilemma. Children less than 6 years of age are the group at highest risk for the development of optic pathway gliomas. Although an annual ophthalmologic examination currently is recom...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(00)00230-7
更新日期：2001-01-01 00:00:00
abstract：:A retrospective review of children with epilepsy and obstructive sleep apnea, treated surgically for their obstructive sleep apnea from January 2008-October 2010, was performed for age, sex, type of epilepsy, antiseizure medications, sleep-study data, and changes in seizure frequency. Twenty-seven subjects (median age...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.03.005
更新日期：2012-06-01 00:00:00
abstract：BACKGROUND:Rituximab (anti-CD20) has been used as B-cell-targeted intervention to treat opsoclonus-myoclonus syndrome. Due to isolated reports of chronic hypogammaglobulinemia and B lymphopenia following rituximab in several disorders, and rapid B-cell depletion after a few doses, we reduced the dosage 20% in our clini...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2018.05.003
更新日期：2018-08-01 00:00:00
abstract：:A 16-year-old boy had a gradual onset of post-exercise myalgia with progressive fatigue and dizziness. He had bradycardia (37 beats/minute) with low supine and normal standing norepinephrine levels (56 and 311 pg/mL, respectively). He had absent sympathetically mediated vasoconstrictor responses during Valsalva maneuv...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.05.003
更新日期：2010-10-01 00:00:00
abstract：:Rett syndrome is a neurodevelopmental disorder that almost exclusively affects females. The clinical course as well as the electroencephalogram pattern are characteristic and have been correlated to the clinical stages of the disease. Sixty to 70 percent of the patients develop epilepsy. The aim of this retrospective ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.10.003
更新日期：2007-02-01 00:00:00
abstract：:A male with developmental dysphasia is documented with fine motor dysfunction whose improvement in expressive language was associated with increased cerebellar perfusion, as detected by serial N-isopropyl-p-[iodine-123] iodoamphetamine single photon emission computed tomography (SPECT). His expressive language has bee...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(99)00075-2
更新日期：1999-10-01 00:00:00
abstract：:Neurons must respond to a bewildering array of external and internal stimuli and must distinguish among them to generate an appropriate response or change in metabolic or electrical activity. Furthermore, the response of a cell to a given stimulus must depend on what else is happening inside and outside the cell at th...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(01)00320-4
更新日期：2001-11-01 00:00:00
abstract：:Parry-Romberg is a rare syndrome of unknown origin, characterized by hemiatrophy of the face including subcutaneous tissue, skeletal muscle, and bones, along with various ocular and central nervous system abnormalities. Some investigators consider that injury to the sympathetic fibers of the trigeminal nerve is a caus...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.11.007
更新日期：2009-04-01 00:00:00
abstract：:A neuropathologic study was undertaken to examine associated brain damage in patients with fetal and neonatal posthemorrhagic hydrocephalus (PHH). In PHH the association of periventricular leukomalacia and pontosubicular necrosis was not increased, but that of cerebellar subarachnoid hemorrhage and olivo-cerebellar pa...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(95)00183-g
更新日期：1995-10-01 00:00:00
abstract：:The present report concerns a vertically human immunodeficiency virus type 1 (HIV-1)-infected 7-year-old child, in whom a neurodegenerative disease occurred after an acute neurologic disorder that was in all likelihood symptomatic of HIV-1 encephalitis. At the steady state the neurologic disease fulfilled the accepted...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(98)00147-7
更新日期：1999-04-01 00:00:00
