Autism is heterogeneous at many levels, including clinical symptoms and etiology. A key strategy in studying heterogeneous conditions is having large enough sample sizes to stratify into smaller groups that are more homogeneous. SPARK and Simons Searchlight are large and growing research cohorts of individuals with autism in the United States and…

Background: To advance early identification efforts, we must detect and characterize neurodevelopmental sequelae of risk among population-based samples early in development. However, variability across the typical-to-atypical continuum and heterogeneity within and across early emerging psychiatric/neurodevelopmental disorders represent fundamental…

Research on siblings of youth with autism spectrum disorder (ASD) suggests that some phenotypic presentation, known as the broader autism phenotype (BAP), is common among siblings without an ASD diagnosis (e.g., Ruzich et al. in Autism Res 9(6):658-665, 2016). Whereas the symptoms that underlie both ASD and the BAP share commonality, the structure…

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 (ASD) diagnosis relies on parent-reported and clinician-observed instruments. Sometimes, results between these instruments disagree. The broader autism phenotype (BAP) in parent-reporters may be associated with discordance. Study to Explore Early Development data (N = 712) were used to address whether mothers with BAP and…

Phenotypic elements of autism spectrum disorder can be masked by attention-deficit/hyperactivity disorder symptoms, potentially leading to a misdiagnosis or delaying an autism spectrum disorder diagnosis. This study explored differences in the age of autism spectrum disorder diagnosis between participants with previously diagnosed…

English language readers rarely get glimpses of the state of autism research in China. Given the seriousness of autism, the population of China, and the potential for theoretically interesting cross-cultural insights, we provide a broad survey of research carried out in China on childhood autism. Four themes are considered: etiology, diagnosis,…

Each year, the Interagency Autism Coordinating Committee (IACC) releases a list of scientific advances that represent significant progress in the field of autism research. The "2021 Summary of Advances" provides short, plain language summaries of the top research breakthroughs selected by the IACC from a pool of research articles…

Each year, the Interagency Autism Coordinating Committee (IACC) releases a list of scientific advances that represent significant progress in the field of autism research. The "Summary of Advances" provides short, plain language summaries of the top research breakthroughs selected by the IACC from a pool of research articles nominated by…

In this activity, freshman college students learn biotechnology techniques while playing the role of a laboratory technician. They perform simulations of three diagnostic tests used to screen newborns for cystic fibrosis. By performing an ELISA, a PCR analysis, and a conductivity test, students learn how biotechnology techniques can be used to…

Each year, the Interagency Autism Coordinating Committee (IACC) releases a list of scientific advances that represent significant progress in the field. The "2020 Summary of Advances in Autism Research" provides short, plain language summaries of the top research breakthroughs selected by the IACC from a pool of research articles…

Background: Changes in reward processing are thought to be involved in the etiology of attention-deficit/hyperactivity disorder (ADHD), as well as other developmental disorders. In addition, different forms of therapy for ADHD rely on reinforcement principles. As such, improved understanding of reward processing in ADHD could eventually lead to…

Aim: Microarray technology has a significantly higher clinical yield than karyotyping in individuals with global developmental delay (GDD). Despite this, it has not yet been routinely implemented as a screening test owing to the perception that this approach is more expensive. We aimed to evaluate the effect that replacing karyotype with…

Each year, the Interagency Autism Coordinating Committee (IACC) releases its annual list of scientific advances that represent significant progress in the field. The 20 studies selected have given new insight into the underlying biology of autism spectrum disorder (ASD) and potential risk factors, examined the state of the science in early…

Most people have 23 pairs of chromosomes; one set from the mother and one from the father. However, nondisjunction errors during meiosis can lead to a case of trisomy, where there are three rather than two chromosomes. Although such events are not uncommon, they are usually lethal, and account for a high proportion of spontaneous abortions. There…