There has been intense debate within the autistic and autism communities about the use of autism biobanks -- repositories containing biological and phenotypic materials -- and of genomic autism research more broadly. Here, we sought to understand the views and experiences of those contributing to one specific biobank, the Australian Autism…

Autism spectrum disorders and Williams syndrome exhibit quite opposite features in the social domain, but also share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative…

Autistic students report feeling lonely, rejected by peers which is associated with poorer well-being and lower academic results. This study aims to evaluate the effect of autism phenotype and diagnosis disclosure on students' desire for social distance from autistic students and factors related to social distancing. 303 students (72.3% women;…

Concerns have been raised about genomic studies of autism. Most recently, the Spectrum 10 K study was paused due to criticism from the autistic community. This situation raised important questions about how the autistic and autism communities perceive genomic research. The Personal Experiences of Autism and Perceptions of DNA-based-research study…

The clinical heterogeneity of autism spectrum disorders majorly challenges their genetic study. Autism spectrum disorders symptoms occur in milder forms in the general population, as autistic-like traits, and share genetic factors with autism spectrum disorders. Here, we investigate the genetics of individual autistic-like traits to improve our…

The broad autism phenotype is the phenotypic expression of the primary characteristics of autism. However, currently available tests do not agree with the two-domain operationalization of broad autism phenotype or autism, and their internal structure has shown instability across applications. This study presents the Broad Autism…

Many individuals with autism experience challenges using language in social contexts (i.e., pragmatic language). Characterizing and understanding pragmatic variability is important to inform intervention strategies and the etiology of communication challenges in autism; however, current manual coding-based methods are often time and labor…

Genetics, environment, and their interactions impact autism spectrum disorder etiology. Smoking is a suspected autism spectrum disorder risk factor due to biological plausibility and high prevalence. Using two large epidemiological samples, we examined whether autism spectrum disorder was associated with prenatal paternal smoking in a Discovery…

Although differences in DNA methylation have been associated with both syndromic and idiopathic autism, differential methylation has not been examined previously with respect to sex differences. The goals of this study were to (1) identify differences in the DNA methylation profiles of lymphoblastoid cell lines derived from a subgroup of severely…

Autism spectrum disorder is associated with sensory processing alterations, such as sensory hyper- and hypo-responsiveness. Twin studies are scarce in this field, but they are necessary in order to disentangle the genetic and environmental contributions to this association. Furthermore, it is unclear how different neurodevelopmental/psychiatric…

The "Diagnostic and Statistical Manual of Mental Disorders'" (5th ed.) Social (Pragmatic) Communication Disorder is meant to capture the social elements of communication dysfunction in children who do not meet autism spectrum disorder criteria. It is unclear whether Social (Pragmatic) Communication Disorder captures these elements…

Several studies have suggested an association between vitamin D in childhood and autism spectrum disorder. No prospective studies have evaluated whether lower vitamin D levels precede ASD diagnoses -- a necessary condition for causality. The objective of this study was to prospectively evaluate whether vitamin D serum levels in early childhood was…

Early diagnosis of autism spectrum disorder is challenging due to its phenotypic and etiological heterogeneity, but critical for implementation of early interventions. We examined the age of autism spectrum disorder diagnosis in a sample of 554 children and adolescents enrolled in the ELENA cohort study in France with regard to the influences of…

Autism spectrum disorder is a grouping of neurodevelopmental disorders characterized by deficits in social communication and language, as well as by repetitive and stereotyped behaviors. While the environment is believed to play a role in the development of autism spectrum disorder, there is now strong evidence for a genetic link to autism.…

The autism spectrum disorder phenotype varies by social and communication ability and co-occurring developmental, behavioral, and medical conditions. Etiology is also diverse, with myriad potential genetic origins and environmental risk factors. Examining the influence of parental broader autism phenotype--a set of sub-clinical characteristics of…