Abstract:
:Eighteen female patients are described with the clinical features of Rett syndrome. Fifteen patients fulfill the criteria established by Hagberg et al hereas three represent clinical variants. Detailed biochemical and neurodiagnostic assessment was conducted in all patients. Reduction in cerebrospinal biogenic amine metabolites and characteristic alterations in respiratory, sleep, and EEG patterns were helpful in supporting the clinical diagnosis in the fifteen patients with typical features of Rett syndrome. In the remaining three patients, the modalities were much less helpful in establishing the diagnosis. Until a molecular marker is defined, diagnosis must depend on careful clinical assessment.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Percy AK,Zoghbi HY,Glaze DGdoi
10.1016/s0387-7604(87)80063-3subject
Has Abstractpub_date
1987-01-01 00:00:00pages
458-61issue
5eissn
0387-7604issn
1872-7131pii
S0387-7604(87)80063-3journal_volume
9pub_type
杂志文章abstract:OBJECTIVE:Very preterm (VP) children are at risk for social difficulties, including autism spectrum disorder (ASD). This study used eye tracking to determine viewing behaviors that may reflect these difficulties. DESIGN:The gaze patterns of 47 VP (mean gestational age: 28weeks, mean birth weight: 948g, and mean chrono...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.10.001
更新日期:2017-03-01 00:00:00
abstract:AIM:To describe beneficial effects of callosotomy on KCNQ2-related intractable epilepsy. CASE REPORT:Our patient was a 10-year-old girl who had developed epilepsy during the neonatal period, accompanied by a suppression-burst pattern on the electroencephalography (EEG). The patient showed profound psychomotor developm...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.05.005
更新日期:2020-09-01 00:00:00
abstract::Communicating hydrocephalus was inadvertently induced in a neonate by bilateral jugular vein catheterization. Removal of one catheter resulted in return to normal ventricular size within 14 days. The complication of hydrocephalus from bilateral jugular vein catheterization can be reversed by prompt removal of one cath...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(82)80026-0
更新日期:1982-01-01 00:00:00
abstract::The objective of this pilot study was to test the validity and reliability of a new scale, the Ability for Basic Movement Scale for Children (ABMS-C). A total of 45 pediatric patients with disabilities (aged 0.1-8.8 years; 29 males, 16 females) participated in this prospective study. To prove the validity and reliabil...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.12.001
更新日期:2011-06-01 00:00:00
abstract:BACKGROUND:Epilepsy is a common chronic disorder in pediatric neurology. Nowadays, a variety of antiepileptic drugs (AEDs) are available. A scientific method designed to evaluate the effectiveness of AEDs in the early stage of treatment has not been reported. PURPOSE:In this study, we try to use quantitative EEG (QEEG...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.07.004
更新日期:2018-01-01 00:00:00
abstract::The common factor causing congenital arthrogryposis is lack of fetal movements. This can result from a large number of disorders. They may be neuropathic, affecting the brain, the spinal cord, or the peripheral nerves; they may be abnormalities of the muscles, such as myasthenia gravis, congenital muscular dystrophies...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(98)00037-0
更新日期:1998-10-01 00:00:00
abstract::The relationship between febrile seizures and hippocampal sclerosis has been the subject of longstanding discussion. Animal models for prolonged seizures have shown a clear causal relationship with focal limbic features at low dose and hippocampal damage at high dose. Careful history taking of febrile seizure semiolog...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2009.09.013
更新日期:2010-01-01 00:00:00
abstract::A neurologic and neuropsychologic test battery was administered to a sample of 35 children drawn from all those in a defined geographic area who had been hospitalized for head trauma before age 7 during the years 1970-1976. Examination was performed 3 1/2 to 10 years after injury, at age 6-15. Twelve subjects had been...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80095-0
更新日期:1988-01-01 00:00:00
abstract::713 children (from newborn to 12-month-old) with delayed motor development were carefully examined and classified into normal, very light cerebral coordination disturbance (CCD, Vojta), light CCD, moderate CCD, severe CCD, suspected cerebral palsy (CP) and other diseases at their first visit, and were followed up care...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(83)80024-2
更新日期:1983-01-01 00:00:00
abstract::Prominent dysphagia is seen among patients with spinal muscular atrophy (SMA) type 2, especially at the late stage of their disease progression. Nasogastric tube feeding and gastrostomy are commonly utilized to maintain their nutritional status. However, choosing a treatment strategy to maintain appropriate nutritiona...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.04.003
更新日期:2007-11-01 00:00:00
abstract:OBJECTIVE:To analyze the electroclinical features of children with childhood absence epilepsy (CAE) and discuss the diagnostic criteria for CAE. METHODS:The video-electroencephalogram (VEEG) database in our hospital was searched using "absence seizures" and "3-Hz generalized spike and waves (GSW)" as key-words. Other ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.02.004
更新日期:2011-02-01 00:00:00
abstract:PURPOSE:To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases ca...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.04.003
更新日期:2019-09-01 00:00:00
abstract::Serial polygraphic recordings of two to three hours duration were made in five full-term newborns with trisomy 18 and one full-term newborn with trisomy 13 syndrome. The newborns with 18 trisomy syndrome were poor sleepers with long periods of wakefulness and/or drowsiness. There were no consistent abnormalities in th...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(79)80029-7
更新日期:1979-01-01 00:00:00
abstract::Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Seizures are frequent symptom in inborn errors of metabolism, with no specific seizure types or EEG signature...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2012.11.010
更新日期:2013-10-01 00:00:00
abstract::Environmental enrichment results in many modifications in the brain such as structural, behavioural, and biochemical changes. alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type receptors for excitatory amino acid glutamate are recently found to be involved in neuronal plasticity. In this study, we ex...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.07.006
更新日期:2005-06-01 00:00:00
abstract::Arachnoid cysts comprise approximately 1% of all intracranial space-occupying lesions and usually occur sporadically. We report retrocerebellar arachnoid cysts in two male siblings with mental retardation and undescended testis, suggesting the possibility of a genetic basis for at least some cases of retrocerebellar a...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(02)00061-x
更新日期:2002-08-01 00:00:00
abstract::We evaluated the usefulness of intravenous lidocaine therapy for managing of status epilepticus (SE) during childhood in a retrospective multi-institutional study. Questionnaires were sent to 28 hospitals concerning patients admitted for SE who were managed with lidocaine, assessing patient characteristics, treatment ...
journal_title:Brain & development
pub_type: 杂志文章,多中心研究
doi:10.1016/j.braindev.2007.12.016
更新日期:2008-09-01 00:00:00
abstract:OBJECTIVE:Cognitive impairments had been reported in childhood acute lymphoblastic leukemia, what caused the impairments needed to be demonstrated, chemotherapy-related or the disease itself. The primary aim of this exploratory investigation was to determine if there were changes in brain function of children with acut...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.04.014
更新日期:2017-10-01 00:00:00
abstract::Six females with Rett syndrome (RS)--all seriously motor disabled with clinical symptomatology indicating not only brain but also spinal cord impairment--were investigated using auditory and somatosensory evoked responses techniques. In all patients the responses representing the pathways through the upper spinal cord...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(87)80076-1
更新日期:1987-01-01 00:00:00
abstract:BACKGROUND:Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic paraplegia 2 (SPG2) are caused by mutations in the proteolipid protein 1 (PLP1) gene. Magnetic resonance imaging (MRI) is pivotal for diagnosing these disorders. The severity of PMD/SPG2 vari...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.06.011
更新日期:2015-04-01 00:00:00
abstract::Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.09.002
更新日期:2017-02-01 00:00:00
abstract::The recent advances in neonatal neurology which are discussed include i) the improved organization of perinatal medical services, ii) technological advances including ultrasonography, brainstem auditory evoked responses and intracranial pressure monitoring and, iii) new developments in therapeutics. The development of...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(84)80095-9
更新日期:1984-01-01 00:00:00
abstract:INTRODUCTION:Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described res...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.11.001
更新日期:2018-04-01 00:00:00
abstract:AIM:To report on two children with encephalopathy caused by dietary thiamine deficiency due to newly developing nutritional problems in contemporary Japan. SUBJECTS:A 1-year-old boy who had consumed 1l of isotonic drinks per day for 4 months after an episode of diarrhea, and presented with ocular movement disorder, dy...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.08.004
更新日期:2010-08-01 00:00:00
abstract::We characterized the neuropsychological status of children with newly diagnosed idiopathic childhood epilepsy and measured differences in IQ between children with different types of epilepsy. The Korean Education Development Institute-Wechsler Intelligence Scale for Children (KEDI-WISC) was administered to 72 patients...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.11.003
更新日期:2011-09-01 00:00:00
abstract::The pathogenesis of Menkes disease seems to be linked to metallothionein which binds to copper trapped within cells in some tissues. The only known therapy for this disease is parenteral administration of copper, but the effects are equivocal. We treated a patient with Menkes disease by giving vitamin C orally. The cl...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80122-4
更新日期:1985-01-01 00:00:00
abstract:PURPOSE:Fukuyama congenital muscular dystrophy (FCMD) is a congenital muscular dystrophy rarely reported outside Japan. Here, we report three patients with Fukuyama congenital muscular dystrophy (FCMD) in China who shared a similar clinical phenotype and 3-kb insertion in the FKTN 3' untranslated region. METHODS:Immun...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.02.010
更新日期:2015-10-01 00:00:00
abstract::We determined the efficacy of and tolerability to zonisamide (ZNS) in newly diagnosed patients with infantile spasms. ZNS, 4-20 mg/kg per day, was introduced as an add-on therapy or monotherapy in 27 children with infantile spasms (cryptogenic, 2; symptomatic, 25). The dosage was initially 2-4 mg/kg per day, and then ...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(98)00080-1
更新日期:1999-04-01 00:00:00
abstract::We examined the effects of stimulus rates on the somatosensory evoked potential (SEP) amplitudes following median nerve stimulation at the wrist in 42 children. We divided these subjects into five groups according to their age (0-6 months, 7-12 months, 1-3 years, 4-6 years and more than 7 years) and measured the peak-...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(98)00092-8
更新日期:1999-03-01 00:00:00
abstract:OBJECTIVE:To analyze and to discuss whether by paying attention to the many recent advancements in the field of pediatric epilepsy surgery catastrophic childhood epilepsies caused by definitive or suspected structural lesions can be prevented more often these days in comparison to the past. METHODS:Based on data from ...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2013.05.003
更新日期:2013-09-01 00:00:00