Abstract:
:Autism is now widely accepted as a biological disorder which, by and large, starts before birth. It has been shown that serotonin (5-HT) is associated with several psychological processes and hyperserotoninemia is observed in some autistic patients. The results of previous reports about family-based association studies between the serotonin transporter (5-HTT) gene promoter polymorphism and autism are controversial. In this study, an analysis using the transmission/disequilibrium test (TDT) between the 5-HTT gene promoter polymorphism and autism in 104 trios, all ethnically Japanese, showed no significant linkage disequilibrium (P=0.17). Recently, it has been reported that some haplotypes at the serotonin transporter locus may be associated with the pathogenesis of autism. Therefore, further investigations by haplotype analyses are necessary to confirm the implications of genetic variants of the serotonin transporter in the etiology of autism.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Koishi S,Yamamoto K,Matsumoto H,Koishi S,Enseki Y,Oya A,Asakura A,Aoki Y,Atsumi M,Iga T,Inomata J,Inoko H,Sasaki T,Nanba E,Kato N,Ishii T,Yamazaki Kdoi
10.1016/j.braindev.2005.09.003keywords:
subject
Has Abstractpub_date
2006-05-01 00:00:00pages
257-60issue
4eissn
0387-7604issn
1872-7131pii
S0387-7604(05)00197-Xjournal_volume
28pub_type
杂志文章abstract::We report on a 9-year-old boy who presented with acute encephalopathy and hemophagocytic lymphohistiocytosis (HLH). The patient was referred to our hospital because of fever, seizures, and decreased consciousness. He showed moderately elevated levels of proinflammatory cytokines in the cerebrospinal fluid and plasma, ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.07.005
更新日期:2012-05-01 00:00:00
abstract::We investigated potential renal functional impairment induced by chronic use of anti-epileptic drugs (AEDs) in 79 epileptic children. They were divided into five groups: valproic acid (VPA) monotherapy where the serum concentration (SC) of VPA was no less than 60 micrograms/ml (VPA [SC > or = 60]) (15 cases), VPA mono...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90003-5
更新日期:1994-11-01 00:00:00
abstract:OBJECTIVE:Acute encephalitis with refractory repetitive partial seizure (AERRPS) is a peculiar type of post-encephalitic/encephalopathic epilepsy. Here we report an analysis of AERRPS in a series of children and propose an effective treatment option for seizure control in these children. METHODS:We retrospectively rev...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.09.010
更新日期:2009-09-01 00:00:00
abstract::Hypoxic ischemic brain can result in cerebral palsy, mental retardation, and learning disabilities in surviving children. The purpose of this study was to elucidate the cerebral blood flow volume in infants complicated with brain damage after the birth. Nine term infants with hypoxic ischemic encephalopathy and 41 nor...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.08.008
更新日期:2008-04-01 00:00:00
abstract::We examined seizure, cognitive, and motor outcomes in patients with Rasmussen syndrome or Rasmussen encephalitis (RS), after recent initiation of immunomodulatory therapies. Among 53 patients with a diagnosis of RS referred from all over Japan, 49 patients (male 22, female 27) with symptoms and findings characteristic...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.01.010
更新日期:2013-09-01 00:00:00
abstract:OBJECTIVE:Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurologica...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.12.003
更新日期:2016-06-01 00:00:00
abstract::The purpose of this study was (1) to document cases of Tourette syndrome (TS) with comorbidities such as obsessive-compulsive symptoms (OCS) and hyperkinetic disorder (HD), and (2) to examine differences in clinical characteristics between TS patients with OCS and HD and those without these comorbidities. The subjects...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.01.005
更新日期:2010-03-01 00:00:00
abstract::Two cases of convulsive syncope following the insertion of sphenoidal electrodes are reported. The episodes occurred shortly after an uneventful insertion of the needle. Both patients exhibited behavioral arrest with loss of muscle tone, followed by flexor posturing, jerking of the extremities, then followed by what a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(99)00006-6
更新日期:1999-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(87)80012-8
更新日期:1987-01-01 00:00:00
abstract::Neural stem cells (NSCs)of the central nervous system (CNS) have recently received a great deal of attention and interest for their therapeutic potential for neurological disorders. NSCs are defined as CNS progenitor cells that have the capacity for self-renewal and multipotent potential to become neurons or glial cel...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2006.07.012
更新日期:2007-05-01 00:00:00
abstract:BACKGROUND:Children with epilepsy often show some degree of cognitive impairment. In this study, we investigated their learning skills to clarify the characteristics of the difficulties related to learning in Japanese-speaking children with focal epilepsy. METHODS:The study included 13 boys and 17 girls of mean age 9....
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.06.004
更新日期:2020-10-01 00:00:00
abstract::Brain magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) in one patient with merosin-deficient congenital muscular dystrophy (MDCMD) revealed significant metabolite (choline, creatine, N-acetyl aspartate) level reductions, fractional anisotropy (FA) reduction and increased apparent diffusion coef...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.10.004
更新日期:2007-06-01 00:00:00
abstract::We report three typical cases of Landau-Kleffner syndrome with varied courses. The very frequent discharges in sleep EEGs, often showing the patterns of CSWS (continuous spike-waves during slow-wave sleep), either typical (spike-wave complex occupying over 85% of slow-wave sleep duration) or atypical (spike-waves occu...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00168-9
更新日期:1996-05-01 00:00:00
abstract::Self-induced seizures by somatosensory stimulation are rare. We describe two epileptic patients with self-induced seizures presumably by peri-orbital somatosensory stimulation. Two infants with severely delayed psychomotor development and poor visual acuity after acute subdural hemorrhage in early infancy had been dia...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.11.004
更新日期:2012-09-01 00:00:00
abstract::Angelman syndrome (AS) is a genetic disorder with characteristic clinical and EEG findings. We report here the results of long-term follow-up studies on the epileptic seizures and EEG findings of 23 cases of deletion type AS confirmed by FISH analysis, including seven cases previously reported by Matsumoto et al. in 1...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.01.009
更新日期:2005-08-01 00:00:00
abstract::Mutation of the gene for alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency, a disorder usually stabilized or improved after vitamin E supplementation. Dystonia has rarely been described in ataxia with isolated vitamin E deficiency (AVED) patients. We present the case of a young boy wit...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(03)00054-8
更新日期:2003-09-01 00:00:00
abstract::The sixth case of hydranencephaly in a twin is reported. The patient is an 11-year-old girl, and her twin was stillborn and macerated. Intrauterine disseminated intravascular coagulation may be the cause of hydranencephaly in this patient. ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(80)80026-x
更新日期:1980-01-01 00:00:00
abstract::A family in which three siblings were affected with severe cerebral malformations in association with ocular anomalies and muscle disease is reported. One sibling was diagnosed as having Fukuyama type congenital muscular dystrophy (FCMD) because he showed severe hypotonia with dystrophic findings on a muscle biopsy in...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80154-9
更新日期:1992-09-01 00:00:00
abstract::Potassium bromide was tried for two children with daily convulsive focal motor seizures with unconsciousness and focal motor seizure status. The treatment resulted in complete cessation of the attacks. It has been reported that bromide is effective for generalized tonic-clonic seizures and not for complex partial seiz...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00023-2
更新日期:2002-04-01 00:00:00
abstract::In order to study the validity of disintegrative psychosis (DP) as defined in ICD-9, we compared the natural history of somatic morbidity of 13 patients given this diagnosis in childhood with a control group of 39 patients with infantile autism (IA) matched for gender, age, IQ and social class. Average follow-up time ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(99)00045-5
更新日期:1999-10-01 00:00:00
abstract::Serial cranial ultrasound examinations were performed through the anterior fontanel to detect and follow the complications of bacterial meningitis in 16 neonates. The final results included normal findings in 9 patients, and abnormal in the other 7 cases. Among the latter, 5 patients with hydrocephalus were sequential...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80117-6
更新日期:1986-01-01 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::Cerebral palsy (CP) is a group of movement and posture disorders attributed to insults in the developing brain. In rats, CP-like motor deficits can be induced by early hind-limb sensorimotor restriction (SR; from postnatal days P2 to P28), associated or otherwise with perinatal anoxia (PA; on P0 and P1). In this study...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.04.016
更新日期:2010-04-01 00:00:00
abstract::As a treatable cause of CNS dysfunctions in the fetal alcohol syndrome (FAS), low-zinc-status in addition to hypoglycemia has been investigated in experimental rat models. During the premating period female rats of an ethanol group and a control group received 30% ethanol (E) and water (W), respectively. During pregna...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(82)80070-3
更新日期:1982-01-01 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::Spasms are a form of epileptic seizure typical of infancy. From a clinical point of view, the child presents a flexor-extensor movement involving the trunk and limbs and lasting about 1s. Although asymmetry can be present, the seizure involves both sides of the body. The ictal discharge most frequently associated with...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(01)00284-4
更新日期:2001-11-01 00:00:00
abstract:PURPOSE:We performed this study to evaluate the long-term efficacy and tolerability of ethosuximide (ESX), valproic acid (VPA), and lamotrigine (LTG) as initial monotherapies for patients with newly diagnosed childhood absence epilepsy. METHODS:We retrospectively reviewed the medical records of 128 patients (45 boys a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.08.007
更新日期:2012-05-01 00:00:00
abstract::The British Isles Survey for Rett has registered 1,159 cases over up to 20 years. Indicators of health and severity, recorded at intervals throughout life, are drawn from clinical examinations, reports and postal questionnaires. This study aimed to establish the stability and predictive value of an early severity scor...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.10.007
更新日期:2005-11-01 00:00:00
abstract::Cerebral blood flow was assessed by ultrasound in 12 children with intractable epilepsy who were treated with ACTH. The average maximal blood velocity (A/L) and end-diastolic blood velocity (d) of the internal carotid artery were measured, before, during and after ACTH therapy in each subject. The right and left mean ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80060-7
更新日期:1985-01-01 00:00:00
abstract::Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle which causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.12.013
更新日期:2009-11-01 00:00:00