Abstract:
OBJECTIVES:Several neurotransmitters involved in brain development are altered in fragile X syndrome (FXS), the most common monogenic cause of autism spectrum disorder (ASD). Serotonin plays a vital role in synaptogenesis and postnatal brain development. Deficits in serotonin synthesis and abnormal neurogenesis were shown in young children with autism, suggesting that treating within the first years of life with a selective serotonin reuptake inhibitor might be the most effective time. In this study we aimed to identify molecular biomarkers involved in the serotonergic pathway that could predict the response to sertraline treatment in young children with FXS. METHODS:Genotypes were determined for several genes involved in serotonergic pathway in 51 children with FXS, ages 24-72months. Correlations between genotypes and deviations from baseline in primary and secondary outcome measures were modeled using linear regression models. RESULTS:A significant association was observed between a BDNF polymorphism and improvements for several clinical measures, including the Clinical Global Impression scale (P=0.008) and the cognitive T score (P=0.017) in those treated with sertraline compared to those in the placebo group. Additionally, polymorphisms in the MAOA, Cytochrome P450 2C19 and 2D6, and in the 5-HTTLPR gene showed a significant correlation with some of the secondary measures included in this study. CONCLUSION:This study shows that polymorphisms of genes involved in the serotonergic pathway could play a potential role in predicting response to sertraline treatment in young children with FXS. Larger studies are warranted to confirm these initial findings.
journal_name
Brain Devjournal_title
Brain & developmentauthors
AlOlaby RR,Sweha SR,Silva M,Durbin-Johnson B,Yrigollen CM,Pretto D,Hagerman RJ,Tassone Fdoi
10.1016/j.braindev.2017.01.012subject
Has Abstractpub_date
2017-06-01 00:00:00pages
483-492issue
6eissn
0387-7604issn
1872-7131pii
S0387-7604(17)30012-8journal_volume
39pub_type
杂志文章,随机对照试验abstract::Although a large amount of cholesterol is known to be needed for brain maturation and differentiation, cholesterol metabolism during these periods remains unclear. To elucidate the developmental regulation of cholesterol metabolism in the brain, we investigated the expression of 3-hydroxy-3-methyglutaryl-coenzyme A (H...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00129-7
更新日期:2000-08-01 00:00:00
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 studie...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.09.003
更新日期:2006-05-01 00:00:00
abstract:PURPOSE:We studied children younger than 6years old who developed catastrophic epilepsy and were registered in the FACE study group to clarify their clinical characteristics and prevalence of seizure as well as epilepsy types. SUBJECTS:Subjects were prospectively recruited from children with epilepsy who satisfied the...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.02.004
更新日期:2013-09-01 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::Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder that is characterized by the development of refractory epilepsy during childhood with gradual declines in cognitive performance and behavior. Although the prognoses of seizures and intellectual disability associated with this condition are poor, life-t...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.02.013
更新日期:2016-09-01 00:00:00
abstract::Eye and brain involvement in congenital muscular dystrophies (CMD) constitute a distinct group with a spectrum of brain malformations. We report two such CMD patients among our series of 58 cases with CMD. Despite known clinical and neuroradiological overlap, we tend to classify them into specific syndromes, though th...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00047-f
更新日期:1995-07-01 00:00:00
abstract:INTRODUCTION:We performed this study to confirm the known risk factors and to identify possible new risk factors for subsequent unprovoked seizure after febrile seizure (FS) on Jeju Island, South Korea. METHODS:A population-based retrospective study of 204 children with FS, whose first FS developed between March 2003 ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.06.003
更新日期:2015-03-01 00:00:00
abstract::A female was diagnosed as a late variant form of infantile Krabbe disease at 1 year and 3 months because of the late onset of regressive clinical course, decreased motor nerve conduction velocities, high cerebrospinal protein concentration and partial deficiency of galactocerebrosidase (15.6%) in the cultured skin fib...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80045-7
更新日期:1988-01-01 00:00:00
abstract::The association between measurements of lateral ventricle dilatation determined by serial ultrasound and brain specific creatine-kinase isoenzyme patterns (CK-BB) is studied in 60 very low birth weight preterm neonates of 1,500 g birth weight or 32 weeks gestation or less. The patients were divided into three groups a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80234-8
更新日期:1992-07-01 00:00:00
abstract::Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents....
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(98)00002-3
更新日期:1998-04-01 00:00:00
abstract::Six boys affected by acquired encephalopathy with an abnormal breathing pattern in wakefulness were studied. Polygraphic recordings showed two different patterns in our population. In two brothers a periodic breathing pattern was recorded in the awake and sleep states. In the others, central apneas with or without tac...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80180-x
更新日期:1990-01-01 00:00:00
abstract::Recent postmortem studies have suggested that sudden infant death syndrome (SIDS) might involve an underlying, gradual brain stem injury caused by repeated episodes of transiently compromised brain stem circulation. Autopsy studies have also reported that vertebral artery occlusion due to head rotations, such as occur...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(03)00004-4
更新日期:2003-08-01 00:00:00
abstract::We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation i...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.12.013
更新日期:2018-05-01 00:00:00
abstract::A 5-year-old boy with acute cerebellar ataxia was examined by means of magnetic resonance imaging (MRI) and was found to have a lesion showing low and high signal intensity in T1- and T2-weighted images, respectively, in the left cerebellar peduncle in the acute phase. The lesion disappeared in the convalescent phase....
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(89)80032-4
更新日期:1989-01-01 00:00:00
abstract:AIM:Cerebellar injury is a characteristic injury associated with preterm infants. However, the impact of cerebellar injury on the development of preterm infants is unclear. METHOD:We reviewed magnetic resonance image studies of preterm infants with cerebral palsy retrospectively and evaluated the developmental outcome...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.01.009
更新日期:2015-10-01 00:00:00
abstract::Findings from a Golgi study of the visual cortex in patients with the Down syndrome were compared with those from neurologically normal, age-matched control subjects. The dendritic atrophy seen in childhood continued into adulthood, with a marked decrease in dendritic branching, dendritic length, and spine frequency i...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(89)80082-8
更新日期:1989-01-01 00:00:00
abstract:PURPOSE:Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS) is the most common childhood idiopathic focal epilepsy with a good outcome. However, an increasing number of reports suggest a 'not so benign' outcome showing atypical evolution. METHODS:We analyzed the electroencephalographic (EEG) spike source dip...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.06.001
更新日期:2016-11-01 00:00:00
abstract::Patients with germline phosphatidylinositol glycan biosynthesis class A (PIGA) related disorder have historically been categorized into one of two distinct subtypes: a severe form which is often fatal, and a less severe form. However, the increasing number of cases with features indicative of both subtypes raise the p...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2019.10.002
更新日期:2020-02-01 00:00:00
abstract::We performed neurophysiological studies in 12 patients with the Leigh syndrome (6 pathologically confirmed and 6 clinically diagnosed). The results are compared with data derived from a literature survey of 173 Leigh syndrome patients. We found no positive contribution of neurophysiological studies towards the diagnos...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80004-3
更新日期:1986-01-01 00:00:00
abstract::The purpose of this study was to evaluate the ability of the test of variables of attention (TOVA) to distinguish between 6- to 12-year-old Japanese male children with attention deficit hyperactivity disorder (ADHD group; n=17) meeting DSM-IV and ICD-10 criteria, and age-matched, normal Japanese male controls (control...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00168-6
更新日期:2000-09-01 00:00:00
abstract:PURPOSE:This study aimed to analyze the topological characteristics of brain structural network in pediatric epilepsy patients with vagus nerve stimulation (VNS) by applying graph theoretical approaches. METHODS:Nine patients with generalized seizures and eight normal controls (NC) were enrolled. Based on diffusion te...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.07.006
更新日期:2021-01-01 00:00:00
abstract:BACKGROUND:Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple carboxylase deficiency. Its infantile onset is characterized by intractable seizures associated with lethargy, psychomotor regression, hypotonia, feeding a...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.03.001
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND:Rett syndrome is a severe genetic neurodevelopmental disorder mainly affecting females. The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. METHODS:To assess pubertal trajectory we used six waves of data provided by parents of girls and wome...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.11.007
更新日期:2013-11-01 00:00:00
abstract::We recorded serially brainstem auditory evoked response (BAER) during the neonatal period in term infants who suffered perinatal asphyxia. The amplitudes of BAER components was analysed at 40 dB above BAER threshold of each subject who had a threshold journal_title:Brain & development pub_type: 杂志文章 doi:10.1016/j.braindev.2006.03.004 更新日期:2006-10-01 00:00:00
abstract::The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least 3 standard deviation below the mean. The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. It ha...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.07.003
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:The underlying genetic abnormalities of rare familial idiopathic epilepsy have been identified, such as mutation in KCNQ2, a K(+) channel gene. Yet, few genetic abnormalities have been reported for commoner epilepsy, i.e., sporadic idiopathic epilepsy, which share a phenotype similar to those of familial epi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.05.010
更新日期:2009-01-01 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
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::Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.04.004
更新日期:2005-01-01 00:00:00
abstract::Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.01.003
更新日期:2016-08-01 00:00:00