PubMed Journal Database | Brain & development 
The US National Library of Medicine and National Institutes of Health manage PubMed.gov which comprises of more than 21 million records, papers, reports for biomedical literature, including MEDLINE, life science and medical journals, articles, reviews, reports and books. BioPortfolio aims to publish relevant information on published papers, clinical trials and news associated with users selected topics.
For example view all recent relevant publications on Epigenetics and associated publications and clincial trials.
Showing PubMed Articles 1–25 of 32 from Brain & development
Epilepsy in pervasive developmental disorder without brain MRI abnormalities.
Background: Epilepsy has been reported in patients with pervasive developmental disorder (PDD), with an incidence ranging from 5% to 40%; however most of the studies included patients with brain magnetic resonance imaging (MRI) abnormalities (e.g., tuberous sclerosis) and patients with epilepsy whose seizure onset was in the first year of life. Methods: We retrospectively examined 67 patients (45 males, 22 females) with PDD and epilepsy, who did not have brain MRI abnormalities. Patients who had seizures in...
5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most prevalent inborn error of folate metabolism, and has variable clinical manifestations from asymptomatic to severe psychomotor retardation, microcephalus and seizure. In untreated infantile cases, it predominantly affects the central nervous system, which is sometimes fatal. On the other hand, peripheral nerve involvement is uncommon. We present a severe infantile case of MTHFR deficiency that manifested unilateral phrenic nerve palsy wi...
Background: Fatigue is a common complaint among elementary and junior high school students, and is related to poor academic performance. Since grade-dependent development of cognitive functions also influences academic performance, we attempted to determine whether cognitive functions were associated with the prevalence of fatigue. Methods: Participants were 148 elementary school students from 4th- to 6th-grades and 152 junior high school students from 7th- to 9th-grades. Participants completed a questionna...
Absence of small-vessel abnormalities in alternating hemiplegia of childhood.
Objective: To investigate whether Japanese patients with alternating hemiplegia of childhood (AHC) have the similar small-vessel abnormalities in skin reported in European patients with AHC. Methods: Electron microscopic observation of biopsied skin specimens were carried out in six Japanese patients with AHC. All patients (aged 5-17, all boys) had been diagnosed with AHC through their typical clinical courses and symptoms. Results: No abnormal findings in both endothelial cells and smooth muscle cells in s...
Correlation between EEG abnormalities and symptoms of autism spectrum disorder (ASD).
Children with ASD often suffer from epilepsy and paroxysmal EEG abnormality. Purposes of this study are the confirmation of incidence of epileptic seizures and EEG abnormalities in children with autism using a high performance digital EEG, to examine the nature of EEG abnormalities such as locus or modality, and to determine if the development of children with ASD, who have experienced developmental delay, improves when their epilepsy has been treated and maintained under control. A total of 1014 autistic c...
Epilepsy in autism: A pathophysiological consideration.
Eighty cases of idiopathic autism with epilepsy and 97 cases without epilepsy were studied to evaluate the pathophysiology of epilepsy in autism. The initial visit to this clinic ranged 8months-30years 3months of age, and the current ages are 5years 8months-42years 3months, 60% reaching to over 30years of age. The average follow up duration is 22.2years+/-9.4years. The ages of onset of epilepsy were from 7months to 30years of age, with the two peaks at 3.2years and 16.7years. EEG central focus appeared earl...
Periventricular leukomalacia is a major form of neuropathology in preterm infants that is associated with adverse motor and cognitive outcomes. The volume of periventricular white matter and corpus callosum has been reported to be diminished in infants with PVL, and the degree of the volume loss is correlated with the severity of neurological impairment. The thalamic index was calculated from the length, height, width of the thalamus, and thalamic volume was calculated using the formula for an ovoid in 62 l...
Epidemiology of cerebral palsy in El-Kharga District-New Valley (Egypt).
Cerebral palsy (CP) is the most frequent cause of motor handicap among children. The present door to door (every door) study was conducted in El-Kharga District-New Valley to estimate the epidemiology of CP among children. Each child was subjected to complete medical and neurological examination to detect cases with CP. These diseased children were subjected to meticulous neurological and medical assessment, brain MRI, EEG and Stanford Binet (4th edition). It was found that 52 out of 25,540 children had CP...
CD4(+)CD25(high) regulatory T cell in childhood ocular myasthenia gravis.
Dysfunction of CD4(+)CD25(+) regulatory T cell (Treg) has been demonstrated to play an important role in the development of autoimmune myasthenia gravis. This T cell subset, which has potent regulatory properties against immune response, has been reported to have a numerical or functional defect in patients with myasthenia gravis. We examined various T cell subsets, including CD4(+)CD25(+)Treg in peripheral blood mononuclear cells using flow cytometry in a pediatric patient suffering from ocular myasthenia...
Acoustic effects of lamotrigine in pediatric patients with epilepsy.
The aim of this study was to investigate the acoustic effects of lamotrigine in pediatric epileptic patients. Newly diagnosed 52 pediatric epileptic patients were assessed standard speech test through a Computerized Speech Lab applied before the beginning of therapy with lamotrigine and 2months after dosage had been stabilized. The voice onset times for /t/, /k(h)/, /p'/ and /t'/ after the therapy and those for /p/, /k/, /p(h)/, /t(h)/ and /k'/ was not affected. Total durations for all stop consonants did n...
Iron and neurodevelopment in infant.
We evaluated the cyclic alternating pattern (CAP) during the first year of life in order to obtain information on the maturation of arousal mechanisms during NREM sleep and to provide normative data for CAP parameters in this age range (5-16months). Eleven healthy children (mean age 7.9+/-3.3months, seven boys) were studied while they slept in the morning. They underwent a 3-h video-EEG-polysomnographic recording at the Pediatric Sleep Unit of Sant'Andrea Hospital in Rome, Italy. Sleep was scored visually f...
Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.
A patient with a large deletion of the distal part of the long arm of chromosome 13 showed severe psychomotor retardation, a characteristic face, nystagmus, retinopathy, cystic kidney disease, and brain malformation with molar tooth sign and cerebellar vermis hypoplasia, a phenotype typical of Arima syndrome. This patient also had bilateral retinoblastoma. Fluorescent in situ hybridization and single-nucleotide-polymorphism genotyping microarray demonstrated an interstitial deletion of 54 Mbp, ranging from...
High-dose phenobarbital (PB) therapy is effective for refractory status epilepticus. We reviewed medical records of patients with intractable partial epilepsies on whom performed non-intravenous high-dose PB therapy. Thirteen patients received PB rectally or orally at a dosage of 20-30mg/kg/day initially, and the PB dosage was gradually reduced to a maintenance dosage of 5-10mg/kg/day orally. We evaluated the effectiveness and safety of this procedure after 14days at the maintenance dosage level. Twelve pat...
Autistic regression with and without EEG abnormalities followed by favourable outcome.
OBJECTIVES: To explore the relationship between autistic regression (AR) with and without EEG abnormalities and favourable outcome. Methods: Follow up data on children with favourable outcome in a series of 534 cases aged below 5years and diagnosed as ASD. Results: Cases with regression were 167 (31.8%), usually with persistent ASD, intellectual disabilities and EEG abnormalities. Thirty nine children (7.3%) went off autism and recovered entirely their intellectual and social abilities. Few of them included...
Analysis of unsupported gait in toddlers with autism.
Aims: A number of studies have suggested the importance of motor development in autism. Motor development has been considered a possible bio-marker of autism since it does not depend on either social or linguistic development. In this study, using retrospective video analysis we investigated the first unsupported gait in toddlers with autism. Methods: Fifty-five toddlers, belonging to three groups were recruited: toddlers with autistic disorder (AD, n=20, age 14.2mo, sd 1.4mo) and as comparison groups: typi...
Background: When students proceed to junior high school from elementary school, rapid changes in the environment occur, which may cause various behavioral and emotional problems. However, the changes in cognitive functions during this transitional period have rarely been studied. Methods: In 158 elementary school students from 4th- to 6th-grades and 159 junior high school students from 7th- to 9th-grades, we assessed various cognitive functions, including motor processing, spatial construction ability, sema...
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome.
A 3-months-old boy presented with partial seizures that soon evolved into infantile spasms. Magnetic resonance imaging revealed bilateral perisylvian polymicrogyria with right-sided predominance. ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. Conventional G-banded chromosomal analysis was performed due to his distinctive features and a derivative chromosome 1 derived from parental balanced translocation with a karyoptype of 46,XY,der(1)t(1;4)(p36.23;q35) was detecte...
Clinical features of epilepsy with pervasive developmental disorder.
PURPOSE: To clarify the clinical features of patients with epilepsy and pervasive developmental disorder (PDD). Methods: We examined 12 outpatients with epilepsy as well as PDD at Seiai Rehabilitation Hospital. Results: The patients comprised 7 males and 5 females. The initial neurological symptoms appeared between 5months and 4years of age. The interval between the initial neurological symptoms/developmental delay and seizure onset ranged from several months to twenty years. The seizures started at 10-19ye...
To clarify the effects of hydrochlorothiazide (HCT) on calcium metabolism in subjects with severe motor and intellectual disabilities (SMID), we examined four patients (16-48years old) with a history of urolithiasis and/or bone fracture and increased urinary calcium/creatinine ratio (U-Ca/Cr). U-Ca/Cr, blood markers of bone turnover, and bone-mineral density (BMD) were measured before and after administration of low-dose HCT (0.25-0.5mg/kg/day). Three months after the initiation of HCT, U-Ca/Cr decreased in...
Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders.
The occurrence of epilepsy in autism is variable; nevertheless, EEG paroxysmal abnormalities (PA) are frequently recorded in patients with autism, although the influence of epilepsy and/or EEG PA on the autistic regression has not been clarified yet. We examine a large sample of 345 inpatients with autism, divided into three groups: (1) patients without epilepsy and EEG PA; (2) patients with EEG PA but no seizures; (3) patients with epilepsy including febrile convulsions. The prevalence of epilepsy (24.9%)...
