Purpose: The current Joint Committee on Infant Hearing guidelines recommend that infants with syndromes or craniofacial abnormalities (CFAs) who pass the universal newborn hearing screening (UNHS) undergo audiological assessment by 9 months of age. However, emerging research suggests that children with these risk factors are at increased risk of…

To explore the willingness to participate in genomics research among African Americans, we developed a technique specifically suited to a relaxed social setting. The "Qualitative Story Deck," (QSD) is a gamified, structured elicitation technique that allows for the spontaneous creation of scenarios with variable attributes. We used the…

Education in biochemistry teaching laboratories focus primarily on applying biochemical techniques to understanding human disease, biochemistry, and biotechnology. With anthropogenic climate change, there is a renewed interest in quantifying biodiversity, especially with the use of molecular-based approaches such as DNA barcoding. This 3-week…

Background: Williams syndrome anxiety research predominantly focuses on disorder prevalence and symptomatology, categorised using standardised mental health classifications. However, the use of these assessments may not fully capture the phenotypic features of anxiety in Williams syndrome. In this study, we examined characteristics of anxiety…

An understanding of basic science is central to student success at the university level, even for students who will never work in scientific fields. Our investigation into students' understanding of DNA is part of a larger investigation into students' knowledge and attitudes about science. DNA and the concepts associated with it (e.g., heredity…

We aimed to examine the opinions of parents' having a child with ASD, on genetic testing, in a Turkish sample. 951 parents' attitudes towards genetic testing were included. 89.1% of the parents did not take a genetic test during pregnancy. 87.6% of the parents agreed to take a genetic test if it could explain the cause of ASDs. 93% agreed to take…

In the last 40 years, there has been a huge increase in autism genetics research and a rapidly growing number of discoveries. We now know autism is one of the most highly heritable disorders with negligible shared environmental contributions. Recent discoveries also show that rare variants of large effect size as well as small effect common gene…

The origin of life is one of the most interesting and challenging questions in biology. This article discusses relevant contemporary theories and hypotheses about the origin of life, recent scientific evidence supporting them, and the main contributions of several scientists of different nationalities and specialties in different disciplines. Also…

Genome Sciences Education Outreach (GSEO) has developed innovative programs that bring leading-edge science to teachers and students in K-12 schools. Disseminating educational materials equitably and accessibly to teacher stakeholders to maximize reach and impact is challenging for many programs. Traditionally, programs connect materials with…

Rising tuition rates across colleges and universities contribute to the mounting financial strain on students. In response to rising costs, literature details that students seek to bolster their financial security by working additional hours per week, consequently leading to less available time. Previous studies have focused on the negative…

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…

The purpose of this literature review was to provide a comprehensive summary of the relationship between Autism Spectrum Disorder (ASD) and Avoidant/Restrictive Food Intake Disorder (ARFID). Eight research studies published between the years 2012 and 2022 were included in the review. The studies examined various symptoms, risk factors,…

Purpose: Individuals with proximal 16p11.2 copy number variants (CNVs), either deletions (16p11.2DS) or duplications (16p11.2Dup), are predisposed to neurodevelopmental difficulties and disorders, such as language disorders, intellectual disability, and autism spectrum disorder. The purpose of the current study was to characterize language…

Williams syndrome (WS) is a rare genetic syndrome. As with all rare syndromes, obtaining adequately powered sample sizes is a challenge. Here we present legacy data from seven UK labs, enabling the characterisation of cross-sectional and longitudinal developmental trajectories of verbal and non-verbal development in the largest sample of…

Few studies have examined differences in autism spectrum disorder (ASD) phenotype between children from multiplex and simplex families at the time of diagnosis. The present study used an age- and gender-matched, community-based sample (n = 105) from the southwestern United States to examine differences in ASD symptom severity, cognitive…