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Characterisation of CASPR2 deficiency disorder-a syndrome involving autism,epilepsy and language impairment
CNTNAP2 Epilepsy Intellectual disability Language regression Autism
2016/5/3
Background: Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. However heterozygous CNTN...
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
Genetic risk autism spectrum disorders neuropsychiatric variation general population
2016/5/3
Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the general population, but the effects of that risk are unclear in people not ascertained for neuropsychiatric sym...
Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorder
constitutional Pten dysfunction mice
2015/12/21
Autism spectrum disorder (ASD) is a neurodevelopmental condition with a clear, but heterogeneous, genetic component. Germline
mutations in the tumor suppressor Pten are a well-established risk factor...
Emotional language processing in autism spectrum disorders: a systematic review
autism spectrum disorders asperger syndrome
2015/12/18
In his first description of Autism Spectrum Disorders (ASD), Kanner emphasized emotional
impairments by characterizing children with ASD as indifferent to other people, selfabsorbed, emotionall...
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
autism intellectual disability
2015/12/18
FOXP1 (forkhead box protein P1; OMIM 605515) belongs to the FOX
gene family of transcription factor proteins, defined by the presence of
a characteristic DNA-binding domain known as the forkhe...
The Basis of Hyperspecificity in Autism:A Preliminary Suggestion Based on Properties of Neural Nets
Hyperspecificity in Autism Preliminary Suggestion Neural Nets
2015/6/19
This article reviews a few key ideas about the representation of information of information in neural networks, and uses these ideas to address one aspect of autism, namely the apparent hyperspecifici...
Emotional language processing in autism spectrum disorders: a systematic review
autism spectrum disorders asperger syndrome social emotion affect language
2015/5/13
In his first description of Autism Spectrum Disorders (ASD), Kanner emphasized emotional impairments by characterizing children with ASD as indifferent to other people, selfabsorbed, emotionally cold,...
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
FOXP1 variant autism intellectual disability severe speech language impairment
2015/5/13
FOXP1 (forkhead box protein P1) is a transcription factor involved in the development of several tissues, including the brain. An emerging phenotype of patients with protein-disrupting FOXP1 variants ...
Processing of Emotion Words by Patients with Autism Spectrum Disorders: Evidence from Reaction Times and EEG
Autism spectrum disorders EEG ERP Emotion words LPC Lexical decision task
2015/5/5
This study investigated processing of emotion words in autism spectrum disorders (ASD) using reaction times and event-related potentials (ERP). Adults with (n = 21) and without (n = 20) ASD performed ...
A direct molecular link between the autism candidate gene RORa and the schizophrenia candidate MIR137
direct molecular link autism candidate gene RORa the schizophrenia candidate MIR137
2015/5/5
Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-depend...
De novo TBR1 mutations in sporadic autism disrupt protein functions
TBR1 mutations sporadic autism disrupt protein functions
2015/5/5
Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of pr...
A Genome Wide Association Study of Mathematical Ability Reveals an Association at Chromosome 3q29, a Locus Associated with Autism and Learning Difficulties:A Preliminary Study
Genome Wide Mathematical Ability Chromosome 3q29 Locus Associated with Autism Learning Difficulties
2015/5/5
Mathematical ability is heritable, but few studies have directly investigated its molecular genetic basis. Here we aimed to identify specific genetic contributions to variation in mathematical ability...
A Perceptual–Motor Deficit Predicts Social and Communicative Impairments in Individuals With Autism Spectrum Disorders
autism spectrum disorders social deficits perception perceptual–motor integration action capability estimation affordance perception
2015/4/21
Individuals with autism spectrum disorders (ASDs) have known impairments in social and motor skills. Identifying putative underlying mechanisms of these impairments could lead to improved understandin...
Semantic, Factual, and Social Language Comprehension in Adolescents with Autism: An FMRI Study
autism brain Broca’s area integration pragmatics
2015/4/8
Language in high-functioning autism is characterized by pragmatic and semantic deficits, and people with autism have a reduced tendency to integrate information. Because the left and right inferior fr...
Exceptions and anomalies: An ERP study on context sensitivity in autism
Autism Asperger syndrome Context Linguistic processing Reasoning ERPs N400 effect Late positive component Sustained negativity
2015/4/8
Several studies have demonstrated that people with ASD and intact language skills still have problems processing linguistic information in context. Given this evidence for reduced sensitivity to lingu...