Each year, the Interagency Autism Coordinating Committee (IACC) releases a list of scientific advances that represent significant progress in the field. The 20 studies selected have provided new insight into characteristics of high-risk siblings of children with autism spectrum disorder (ASD), molecular changes underlying the biology of ASD, and…

In recent decades, a growing number of children have been diagnosed with autism spectrum disorder (ASD), a condition characterized by social interaction deficits and language impairment. Yet the precise nature of the disorder's impact on language development is not well understood, in part because of the language variability among children across…

Background: Williams syndrome (WMS) is a rare genetic disorder with an estimated prevalence of 1 in 20,000 live births. Among other characteristics, WMS has a distinctive cognitive profile with spared face processing and language skills that contrasts with impairment in the cognitive domains of spatial cognition, problem solving and planning. It…

Mothers of adolescents and adults with fragile X syndrome (FXS) are faced with high levels of parenting stress. The extent to which mothers are negatively impacted by this stress, however, may be influenced by their own genetic status. The present study uses a diathesis-stress model to examine the ways in which a genetic vulnerability in mothers…

Background: The most prevalent type of structural variation in the human genome is represented by copy number variations that can affect transcription levels, sequence, structure and function of genes. Method: In the present study, we used the multiplex ligation-dependent probe amplification (MLPA) technique and quantitative PCR for the detection…

Terms to be familiar with before you start to solve the test: cell cycle, generation time, S-phase, cell culture synchronization, isotopic pulse-chase labeling, density labeling, equilibrium density-gradient centrifugation, buoyant density, rate-zonal centrifugation, nucleoside, nucleotide, kinase enzymes, polymerization of nucleic acids,…

Infection by pathogenic microbes initiates a set of complex interactions between the pathogen and the host mediated by pattern recognition receptors. Innate immune responses play direct roles in host defense during the early stages of infection, and they also exert a profound influence on the generation of the adaptive immune responses that ensue.…

A 20 item observational measure of social functioning, the Impression of Interviewee rating scale, is one of three measures devised to assess the broader autism phenotype. The sample studied included families containing at least two individuals with autism spectrum disorder; observations were undertaken by the researcher who interviewed the…

Mothers, fathers, and siblings from 87 multiplex (M-mothers, M-fathers, and M-siblings) and 41 simplex (S-mothers, S-fathers, and S-siblings) Autism spectrum disorder families were assessed using the Broader Phenotype Autism Symptom Scale. S-mothers, S-fathers, and S-siblings showed more social interest and were more expressive in their use of…

Anxiety is among the most impairing conditions associated with Fragile X syndrome (FXS) and is putatively linked to atypical physiological arousal. However, few studies have examined this association in young children with FXS. The authors examined whether patterns of arousal and behavior during an experimental stranger approach paradigm differ…

Few studies have examined the relationship between heart rate and self-injurious behavior (SIB) shown by individuals with IDD (intellectual and developmental disabilities). In this single-case study, we simultaneously monitored heart rate and activity levels during a functional analysis of severe skin picking behavior exhibited by a young man with…

Guided instruction is an approach that fully explains the concepts and procedures that students are required to learn. It seems intuitive that this approach should increase student learning; however, there is evidence in the literature that this may not always be the case. We wanted to assess the effectiveness of our own repeated…

This article describes the substance, structure, and rationale of a learning progression in genetics spanning kindergarten through twelfth grade (K-12). The learning progression is designed to build a foundation towards understanding protein structure and activity and should be viewed as one possible pathway to understanding concepts of genetics…

Social behavior abnormalities in Fragile X syndrome (FXS) are characterized by social withdrawal, anxiety, and deficits in social cognition. To assess these deficits, a model of FXS, the "Fmr1" knockout mouse ("Fmr1" KO), has been utilized. This mouse model has a null mutation in the fragile X mental retardation 1 gene ("Fmr1") and displays…

Some studies conducted on ADHD have found a statistically significant relationship between those diagnosed with the disorder and a higher susceptibility to abuse alcohol. However, other studies have found no such correlation, or have found this to be true of only a nonstatistically significant subset of the population of individuals with ADHD.…