"DDX[subscript 3]X" variants are a common cause of intellectual disability (ID) in females, and have been associated with autism spectrum disorder and emotional-behavioural difficulties. In this study, we compared phenotypic data for 23 females with "DDX[subscript 3]X" variants, to 23 females with ID and other genetic…

This study aimed to examine the impact of a context-based relating, experiencing, applying, cooperating, and transferring (REACT) strategy on the scientific reasoning (SR) abilities of tenth grade students. A mixed-method approach and convergent embedded experimental design were used. One hundred thirty-one students participated in the study in…

Purpose: Autistic boys and boys with co-occurring fragile X syndrome and autism spectrum disorder (FXS + ASD) demonstrate similar pragmatic language difficulties. The Pragmatic Rating Scale--School Age (PRS-SA) captures ecologically valid metrics of pragmatic language impairments in these populations. It is traditionally scored based on the Autism…

It is 157 years since Mendel presented his results on hybridisation in peas to the Brünn Society for Natural Science. The discipline of genetics has dramatically changed since then, with technological advancements revealing multifactorial causation and trait variability. Whilst none of this complexity featured in the discovery of classical…

Due to loss of spoken language and resulting complex communication needs, people with Rett syndrome are obvious candidates for communication intervention. To advance evidence-based practice and guide future research efforts, we identified and summarized 16 communication intervention studies published since a previous 2009 review on this topic.…

Community health advisors (CHAs) play a key role in promoting health in medically underserved communities, including in addressing cancer disparities. There is a need to expand the research on what characteristics make for an effective CHA. We examined the relationship between CHA personal and family history of cancer, and implementation and…

High school students' perceptions often do not capture the diversity and opportunity intrinsic within science. University outreach programmes represent an ideal opportunity to increase students' exposure to diverse scientific fields and dismantle limiting perceptions. The authors examined the impact of a university-based science outreach programme…

Structure--activity relationships are foundational concepts in biochemistry and drug design. Despite their importance, it can be difficult to create and execute laboratory activities that allow students to directly observe the interactions between small-molecule drugs and their biomolecular targets. Here, we report an activity that investigates…

Rett syndrome is a severe neurodevelopmental disorder that results in both motor and language skill regression with a wide range of severity in symptom presentation. Communication intervention may be particularly challenging for this population due to the decline in speech, motor skills, and motor planning difficulties that characterize the…

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…