Modeling Autistic Features in Animals [PDF]
A variety of features of autism can be simulated in rodents, including the core behavioral hallmarks of stereotyped and repetitive behaviors, and deficits in social interaction and communication.
Patterson, Paul H.
core +1 more source
Defining language impairments in a subgroup of children with autism spectrum disorder [PDF]
Autism spectrum disorder (ASD) is diagnosed on the basis of core impairments in pragmatic language skills, which are found across all ages and subtypes.
A Bailey +81 more
core +2 more sources
Executive functions in parents of children with and without autism spectrum disorder [PDF]
Introduction: Autism spectrum disorder is a neurodevelopmental disorder that its etiology has not been determined definitively. The studies that have been conducted on the characteristics of relatives of people with ASD have shown that relatives of ...
Bita Shalani +2 more
doaj +1 more source
Frontal cortex functioning in the infant broader autism phenotype
Atypical attention has been proposed as a marker of the broader autism phenotype. In the present study we investigated this and the related process of inhibitory control at the youngest possible age through the study of infant siblings of children with an autism spectrum disorder (Sibs-ASD).
Holmboe, K. +7 more
openaire +4 more sources
O Fenótipo Ampliado do Autismo em genitores de crianças com Transtorno do Espectro Autista - TEA
RESUMOPesquisadores têm identificado expressões mais leves de traços do Transtorno do Espectro do Autismo - TEA em pais e irmãos destes indivíduos, que são definidas como Fenótipo Ampliado do Autismo (FAA).
Renata Giuliani Endres +4 more
doaj +1 more source
Confirmatory factor analysis of the Adult Asperger Assessment: The association of symptom domains within a clinical population [PDF]
Autism Spectrum Disorder (ASD) is a behaviourally defined disorder characterised by impairments in three domains of social interaction, communication, and repetitive, stereotyped behaviours and activities.
Kuenssberg, Renate, McKenzie, Karen
core +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Reduced face identity aftereffects in relatives of children with autism. [PDF]
Autism is a pervasive developmental condition with complex aetiology. To aid the discovery of genetic mechanisms, researchers have turned towards identifying potential endophenotypes - subtle neurobiological or neurocognitive traits present in ...
Fiorentini, Chiara +4 more
core +2 more sources
Investigating emotional impairments in adults with autism spectrum disorders and the broader autism phenotype [PDF]
There is an increasing interest in the socio-affective atypicalities observed in adults with autism spectrum disorder (ASD). The aim of this study was to further explore emotional responsiveness in adults with ASD using well-validated self-reports of alexithymia and to determine whether anhedonic features are part of a broader autism phenotype (BAP ...
Berthoz, S. +3 more
openaire +3 more sources
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source

