Rett syndrome (RTT) is a rare, late detected developmental disorder associated with severe deficits in the speech-language domain. Despite a few reports about atypicalities in the speech-language development of infants and toddlers with RTT, a detailed analysis of the pre-linguistic vocalisation repertoire of infants with RTT is yet missing. Based…

Skin picking is highly prevalent in people with Prader-Willi syndrome (PWS). This study addressed the temporal (frequency, duration) and wider characteristics (e.g. type of skin picked, apparent motivations, or management strategies) of skin picking to inform intervention strategies. Nineteen parents/carers who observe skin picking shown by the…

The incorporation of collaborative work in the educational field grows day after day, as does the research associated with this topic. One of the most recurring problems faced by teachers who want to employ this learning strategy is the good students' group formation since this task can be complex both conceptually and computationally, especially…

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…

Autism spectrum disorder (ASD), a heritable neurodevelopmental disorder, confers genetic liability that is often expressed among relatives through subclinical, genetically-meaningful traits, or endophenotypes. For instance, relative to controls, parents of individuals with ASD differ in language-related skills, with differences emerging in…

With the better understanding of human genome and genetic contributions to human complex diseases, more and more clinical genetic tests have been developed for the prevention, diagnosis, and treatment of human diseases. This has raised new challenges to classroom teaching of medical genetics (MG) in medical education of undergraduates, who are…

Pedigree problems are typical tasks in school genetics classes. However, they are perceived as difficult and often are not successfully completed. Therefore, the purpose of this study is to determine relevant factors that might have an impact on success in pedigree analysis. Based on previous research, we investigate the influence of the…

Multiple studies have shown that testing contributes to learning at all educational levels. In this observational classroom study, we report the use of a learning tool developed for a Genetics and Molecular Biology course at the college level. An interactive set of practice exams that included 136 multiple choice questions (MCQ) or matching…