Abstract：
:Fragile X syndrome (FXS) is caused by an expanded CGG repeat (>200 repeats) in the 5' un-translated portion of the fragile X mental retardation 1 gene (FMR1) leading to a deficiency or absence of the FMR1 protein (FMRP). FMRP is an RNA-binding protein that regulates the translation of a number of other genes that are important for synaptic development and plasticity. Furthermore, many of these genes, when mutated, have been linked to autism in the general population, which may explain the high comorbidity that exists between FXS and autism spectrum disorders (ASD). Additionally, premutation repeat expansions (55 to 200 CGG repeats) may also give rise to ASD through a different molecular mechanism that involves a direct toxic effect of FMR1 mRNA. It is believed that RNA toxicity underlies much of the premutation-related involvement, including developmental concerns like autism, as well as neurodegenerative issues with aging such as the fragile X-associated tremor ataxia syndrome (FXTAS). RNA toxicity can also lead to mitochondrial dysfunction, which is common in older premutation carriers both with and without FXTAS. Many of the problems with cellular dysregulation in both premutation and full mutation neurons also parallel the cellular abnormalities that have been documented in idiopathic autism. Research regarding dysregulation of neurotransmitter systems caused by the lack of FMRP in FXS, including metabotropic glutamate receptor 1/5 (mGluR1/5) pathway and GABA pathways, has led to new targeted treatments for FXS. Preliminary evidence suggests that these new targeted treatments will also be beneficial in non-fragile X forms of autism.
journal_name
J Neurodev Disordjournal_title
Journal of neurodevelopmental disordersauthors
Hagerman R,Au J,Hagerman Pdoi
10.1007/s11689-011-9084-5subject
Has Abstractpub_date
2011-09-01 00:00:00pages
211-24issue
3eissn
1866-1947issn
1866-1955journal_volume
3pub_type
杂志文章abstract：:The primary goal of this study was to examine environmental and neuroendocrine factors that convey increased risk for elevated autistic behavior in boys with Fragile X syndrome (FXS). This study involves three related analyses: (1) examination of multiple dimensions of social approach behaviors and how they vary over ...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1007/s11689-009-9028-5
更新日期：2009-12-01 00:00:00
abstract：:Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of SHANK3 results in 22q13 deletion syndrome or Phelan-McDermid syndrome (PMS) and causes a monogenic form of A...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章,评审
doi：10.1186/1866-1955-6-39
更新日期：2014-01-01 00:00:00
abstract：:Autism spectrum disorder (ASD) is a behaviourally defined syndrome where the etiology and pathophysiology is only partially understood. In a small proportion of children with the condition, a specific medical disorder is identified, but the causal significance in many instances is unclear. Currently, the medical condi...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1007/s11689-009-9021-z
更新日期：2009-06-01 00:00:00
abstract：BACKGROUND:Children with autism spectrum disorder (ASD) show marked impairment in social functioning and poor adaptation to new and changing contexts, which may be influenced by underlying regulatory processes. Oxytocin (OT) and cortisol are key neuromodulators of biological and behavioral responses, show a synergistic...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/s11689-016-9165-6
更新日期：2016-08-18 00:00:00
abstract：BACKGROUND:Children with neurodevelopmental disorders (NDDs) exhibit a shared phenotype that involves executive dysfunctions including impairments in mental flexibility (MF). It is of interest to understand if this phenotype stems from some shared neurobiology. METHODS:To investigate this possibility, we used magnetoe...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/s11689-019-9280-2
更新日期：2019-08-19 00:00:00
abstract：BACKGROUND:Gaze processing deficits are a seminal, early, and enduring behavioral deficit in autism spectrum disorder (ASD); however, a comprehensive characterization of the neural processes mediating abnormal gaze processing in ASD has yet to be conducted. METHODS:This study investigated whole-brain patterns of neura...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/1866-1955-6-15
更新日期：2014-01-01 00:00:00
abstract：:In the original publication of this article [1], the author name Leonard Abbeduto was misspelled as Leonardkk Abbeduto. The original article has been corrected. ...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章,已发布勘误
doi：10.1186/s11689-020-09314-5
更新日期：2020-04-02 00:00:00
abstract：BACKGROUND:Alcohol related neurodevelopmental disorder (ARND) falls under the umbrella of fetal alcohol spectrum disorder (FASD), but individuals do not demonstrate the facial characteristics associated with fetal alcohol syndrome (FAS), making diagnosis difficult. While attentional problems in ARND are similar to thos...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/1866-1955-4-12
更新日期：2012-05-18 00:00:00
abstract：:To examine brain volumes in substructures associated with the behavioral features of children with FXS compared to children with idiopathic autism and controls. A cross-sectional study of brain substructures was conducted at the first time-point as part of an ongoing longitudinal MRI study of brain development in FXS....
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1007/s11689-009-9009-8
更新日期：2009-03-01 00:00:00
abstract：BACKGROUND:The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified to cause a breadth of neurodevelopmental disorders including autism, intellectual disability, and epilepsy. The purpose of this work is to def...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/s11689-019-9276-y
更新日期：2019-08-08 00:00:00
abstract：BACKGROUND:Individuals with Autism Spectrum Disorders (ASD) typically show impaired eye contact during social interactions. From a young age, they look less at faces than typically developing (TD) children and tend to avoid direct gaze. However, the reason for this behavior remains controversial; ASD children might avo...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/1866-1955-4-17
更新日期：2012-06-07 00:00:00
abstract：BACKGROUND:The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live births. The etiological factors remain largely unknown. The aim of this study was to detect causative copy number variations (CNVs) in fetuses of terminated pregnancie...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/s11689-016-9144-y
更新日期：2016-04-15 00:00:00
abstract：: For decades, researchers have sought to clarify the nature of the social communication impairments in autism, highlighting impaired or atypical 'social attention' as a key measurable construct that helps to define the core impairment of social communication. In this paper, we provide an overview of research on social...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/1866-1955-4-11
更新日期：2012-05-17 00:00:00
abstract：:[This corrects the article DOI: 10.1186/s11689-016-9179-0.]. ...
journal_title：Journal of neurodevelopmental disorders
pub_type： 已发布勘误
doi：10.1186/s11689-017-9192-y
更新日期：2017-03-06 00:00:00
abstract：BACKGROUND:Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to mental age. This has not been formally examined, however, and data are ...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/s11689-019-9285-x
更新日期：2019-10-16 00:00:00
abstract：BACKGROUND:Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in a long-term follow-...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/s11689-015-9116-7
更新日期：2015-01-01 00:00:00
abstract：BACKGROUND:One of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clin...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/s11689-016-9152-y
更新日期：2016-05-06 00:00:00
abstract：BACKGROUND:Recent studies link autism spectrum disorders (ASD) with an altered balance between excitation and inhibition (E/I balance) in cortical networks. The brain oscillations in high gamma-band (50-120 Hz) are sensitive to the E/I balance and may appear useful biomarkers of certain ASD subtypes. The frequency of g...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/s11689-015-9121-x
更新日期：2015-01-01 00:00:00
abstract：:Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Anxiety and social withdrawal are considered core features of the FXS phenotype, yet there is limited diagnostic evidence of the prevalence of formal anxiety disorders in FXS. This study assessed the prevalence of anxiety disor...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1007/s11689-010-9067-y
更新日期：2011-03-01 00:00:00
abstract：:Activation of maternal stress response systems during pregnancy has been associated with altered postpartum maternal care and subsequent abnormalities in the offspring's brain and behavioral development. It remains unknown, however, whether similar effects may be induced by exposure to immunological stress during preg...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1007/s11689-008-9000-9
更新日期：2009-03-01 00:00:00
abstract：UNLABELLED: BACKGROUND:A previous study reported enhanced psychomotor speed, and subtle but significant cognitive impairments, modulated by age and by mutations in the fragile X mental retardation 1 (FMR1) gene in adult female fragile X premutation carriers (fXPCs). Because male carriers, unlike females, do not have a...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/1866-1955-4-26
更新日期：2012-11-13 00:00:00
abstract：:Turner syndrome (TS) is one of the most common sex chromosome abnormalities. Affected individuals often show a unique pattern of cognitive strengths and weaknesses and are at increased risk for a number of other neurodevelopmental conditions, many of which are more common in typical males than typical females (e.g., a...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1007/s11689-011-9089-0
更新日期：2011-12-01 00:00:00
abstract：BACKGROUND:Recent advances in understanding molecular and synaptic mechanisms of intellectual disabilities (ID) in fragile X syndrome (FXS) and Down syndrome (DS) through animal models have led to targeted controlled trials with pharmacological agents designed to normalize these underlying mechanisms and improve clinic...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/s11689-016-9167-4
更新日期：2016-09-06 00:00:00
abstract：BACKGROUND:The profile of cognitive and behavioral variation observed in individuals with fragile X syndrome (FXS), the most common known cause of inherited intellectual impairment, suggests aberrant functioning of specific brain systems. Research investigating animal models of FXS, characterized by limited or lack of ...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/1866-1955-5-20
更新日期：2013-08-28 00:00:00
abstract：BACKGROUND:Facial mimicry is crucial in the recognition of others' emotional state. Thus, the observation of others' facial expressions activates the same neural representation of that affective state in the observer, along with related autonomic and somatic responses. What happens, therefore, when someone cannot mimic...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/s11689-019-9272-2
更新日期：2019-07-10 00:00:00
abstract：BACKGROUND:The DYX5 locus for developmental dyslexia was mapped to chromosome 3 by linkage study of a large Finnish family, and later, roundabout guidance receptor 1 (ROBO1) was implicated as a candidate gene at DYX5 with suppressed expression from the segregating rare haplotype. A functional magnetoencephalographic st...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/s11689-016-9136-y
更新日期：2016-01-27 00:00:00
abstract：BACKGROUND:Children with autism spectrum disorder (ASD) show impairment in reciprocal social communication, which includes deficits in social cognition and behavior. Since social cognition and social behavior are considered to be interdependent, it is valuable to examine social processes on multiple levels of analysis....
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/1866-1955-6-35
更新日期：2014-01-01 00:00:00
abstract：:Fragile X syndrome (FXS) is the most common identifiable genetic cause of intellectual disability and autistic spectrum disorders (ASD), with up to 50% of males and some females with FXS meeting criteria for ASD. Autistic features are present in a very high percent of individuals with FXS, even those who do not meet f...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1007/s11689-011-9074-7
更新日期：2011-09-01 00:00:00
abstract：: Children with specific language impairment (SLI) are thought to have an inherited form of language impairment that spares other developmental domains. SLI shows strong heritability and recent linkage and association studies have replicated results for candidate genes. Regulatory regions of the genes may be involved. ...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章
doi：10.1186/1866-1955-4-27
更新日期：2012-11-24 00:00:00
abstract：BACKGROUND:The mitochondrial aminoacyl-tRNA synthetase proteins (mt-aaRSs) are a group of nuclear-encoded enzymes that facilitate conjugation of each of the 20 amino acids to its cognate tRNA molecule. Mitochondrial diseases are a large, clinically heterogeneous group of disorders with diverse etiologies, ages of onset...
journal_title：Journal of neurodevelopmental disorders
pub_type： 杂志文章,评审
doi：10.1186/s11689-019-9292-y
更新日期：2019-12-16 00:00:00
