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 conditions that are best established as probable causes of ASD include Fragile X syndrome, Tuberous Sclerosis and abnormalities of chromosome 15 involving the 15q11-13 region. Various other single gene mutations, genetic syndromes, chromosomal abnormalities and rare de novo copy number variants have been reported as being possibly implicated in etiology, as have several ante and post natal exposures and complications. However, in most instances the evidence base for an association with ASD is very limited and largely derives from case reports or findings from small, highly selected and uncontrolled case series. Not only therefore, is there uncertainty over whether the condition is associated, but the potential basis for the association is very poorly understood. In some cases the medical condition may be a consequence of autism or simply represent an associated feature deriving from an underlying shared etiology. Nevertheless, it is clear that in a growing proportion of individuals potentially causal medical conditions are being identified and clarification of their role in etio-pathogenesis is necessary. Indeed, investigations into the causal mechanisms underlying the association between conditions such as tuberous sclerosis, Fragile X and chromosome 15 abnormalities are beginning to cast light on the molecular and neurobiological pathways involved in the pathophysiology of ASD. It is evident therefore, that much can be learnt from the study of probably causal medical disorders as they represent simpler and more tractable model systems in which to investigate causal mechanisms. Recent advances in genetics, molecular and systems biology and neuroscience now mean that there are unparalleled opportunities to test causal hypotheses and gain fundamental insights into the nature of autism and its development.
journal_name
J Neurodev Disordjournal_title
Journal of neurodevelopmental disordersauthors
Bolton PFdoi
10.1007/s11689-009-9021-zsubject
Has Abstractpub_date
2009-06-01 00:00:00pages
102-13issue
2eissn
1866-1947issn
1866-1955journal_volume
1pub_type
杂志文章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: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: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: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::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 ...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1007/s11689-011-9084-5
更新日期:2011-09-01 00:00:00
abstract:BACKGROUND:Perinatal exposure to air pollution and immune system dysregulation are two factors consistently associated with autism spectrum disorders (ASD) and other neurodevelopmental outcomes. However, little is known about how air pollution may influence maternal immune function during pregnancy. OBJECTIVES:To asse...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-020-09343-0
更新日期:2020-12-16 00:00:00
abstract::Prader-Willi syndrome (PWS) is a genetic imprinting disease that causes developmental and behavioral disturbances resulting from loss of expression of genes from the paternal chromosome 15q11-q13 region. In about 70% of subjects, this portion of the paternal chromosome is deleted, while 25% have two copies of the mate...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1007/s11689-010-9051-6
更新日期:2010-09-01 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:Fragile X syndrome (FXS) is a genetic disorder that is highly comorbid with anxiety and autism spectrum disorder (ASD). Elevated negative affect in young children has been associated with increased risk for both anxiety and ASD; however, these relations remain poorly understood in FXS. METHODS:The present p...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-019-9284-y
更新日期:2019-09-13 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::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:: 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:BACKGROUND:Various techniques in assisted reproductive technology (ART) have been developed as solutions for specific infertility problems. It is important to gain consensual conclusions on the actual risks of neurodevelopmental disorders among children who are born from ART. This study aimed to quantify the relative r...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章,评审
doi:10.1186/s11689-020-09347-w
更新日期:2020-12-13 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::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: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::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::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:Individuals with autism spectrum disorder (ASD) show a relative indifference to the human voice. Accordingly, and contrarily to their typically developed peers, adults with autism do not show a preferential response to voices in the superior temporal sulcus; this lack of voice-specific response was previousl...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-017-9194-9
更新日期:2017-04-05 00:00:00
abstract::The paper argues that both evolutionary and genetic approaches to studying the biological foundations of speech and language could benefit from fractionating the problem at a finer grain, aiming not to map genetics to "language"-or even subdomains of language such as "phonology" or "syntax"-but rather to link genetic ...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1007/s11689-011-9097-0
更新日期:2011-12-01 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: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::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::[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: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:BACKGROUND:Individuals diagnosed with fragile X syndrome (FXS), the most common known inherited form of intellectual disability, commonly exhibit significant impairments in social gaze behavior during interactions with others. Although this behavior can restrict social development and limit educational opportunities, b...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-018-9243-z
更新日期:2018-08-28 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:BACKGROUND:Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with psychological vulnerability. This study examined cardiac indicators...
journal_title:Journal of neurodevelopmental disorders
pub_type: 杂志文章
doi:10.1186/s11689-017-9197-6
更新日期:2017-05-02 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::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