Purpose: The "Fragile X Messenger Ribonucleoprotein-1 (FMR1)" premutation (FXpm) is a genetic variant that is common in the general population and is associated with health symptoms and disease in adulthood. However, poor understanding of the clinical phenotype during childhood has hindered the development of clinical practice guidelines…

In this study, we focus on Rubinstein-Taybi syndrome (RTS) to explore the associations between executive function deficits and repetitive behaviors. Thirty individuals with RTS completed direct assessments of inhibition, working memory and set-shifting. Informants completed repetitive behavior and executive function questionnaires. Repetitive…

Children with chromosome 22q11.2 deletion syndrome (22q11.2DS) exhibit impaired ability to process and understand emotions in others. We measured structural connectivity in children and adolescents with 22q11.2DS (n = 28) and healthy controls (n = 29). Compared to controls, those with 22q11.2DS had poorer social skills and more difficulty…

Using discourse analysis, this article traces the persistence of eugenic ideology through the narrative structures of world history in the California Department of Education's history/social science K-12 framework. This article excavates the hidden depths at which scientific racism has become embedded into the curriculum and asks, "How do…

Background: The affective expression of sexual behaviour in individuals with Williams syndrome can lead to risky behaviours, especially if parents do not have information on how to provide sex education or support from specialised professionals. Method: The Attitudes to Sexuality Questionnaire for Individuals with Intellectual Disabilities was…

Cognition is the mental process of acquiring knowledge and understanding through thought, experience and senses. Based on Embodied Cognition theory, physical activities are an important manifestation of cognitive functions. As a result, they can be employed to both assess and train cognitive skills. In order to assess various cognitive measures,…

Estimates of shared environmental influence on educational attainment (EA) using the Classical Twin Design (CTD) have been enlisted as genetically sensitive measures of unequal opportunity. However, key assumptions of the CTD appear violated for EA. In this study we compared CTD estimates of shared environmental influence on EA with estimates from…

Anxiety is being increasingly identified in Angelman syndrome (AS). Qualitative questions and quantitative assessments were used to evaluate for anxiety in 50 subjects with AS. In-person evaluations assessed behaviors concerning for anxiety and circumstances wherein they occurred. Caregivers completed anxiety and other behavioral rating scales.…

Southern blot analysis is an important molecular biology technique for identifying a specific sequence in DNA samples. Although it is no longer used extensively in recent years, the steps and underlying principles of Southern blot are applicable to modern biology. High sensitivity and limited background are keys to successful Southern blots,…

Idiograms are graphical representations in which chromosomes appear ordered by their relative size, homology groups, and the presence of cytogenetic landmarks such as centromeres, secondary constrictions, and banding patterns. They have become crucial elements in cytogenetic research. Here, we describe a simple protocol for spreadsheet software to…

Growing evidence suggests that autistic females are more likely to be diagnostically overlooked than males, perhaps due to differences in ASD presentations (van Wijngaarden-Cremers in JAMA 44:627-635, 2014). To investigate specific behaviours in which differences lie, we analysed profiles of 777 children using the Childhood Autism Rating Scale…

Fragile X syndrome (FXS) has a classic phenotype, however its expression can be variable among full mutation males. This is secondary to variable methylation mosaicisms and the number of CGG triplet repeats in the non-coding region of the Fragile X Mental Retardation 1 ("FMR1") gene, producing a variable expression of the Fragile X…

It is well established that intelligence testing in its modern form developed and was deployed slightly differently in several countries, most notably France, England and the United States. Less widely recognized is the fact that its originators were all part of a close network of scholars who liaised internationally, exchanged ideas and were…

While the predictive power of genetic information is not yet strong enough to apply to individuals in the classroom, this study aimed to explore how genetic information may be received in educational settings as a potentially important source of individual differences in academic achievement and learning difficulties. Focus group discussions with…

Learning molecular biology involves using visual representations to communicate ideas about largely unobservable biological processes and molecules. Genes and gene expression cannot be directly visualized, but students are expected to learn and understand these and related concepts. Theoretically, textbook illustrations should help learners master…