Background: A teaching method to improve students' ability to communicate ideas in genetics across the macro-micro levels of organisation was investigated in this study. Purpose: It is designed to help students deconstruct the level of organisation of each tier of a genetic diagram, as the symbols used in such diagrams (i.e. lines and letters) can…

Semi-structured interviews were conducted with boys and young men who have Duchenne muscular dystrophy (DMD), a severe, degenerative condition that only affects boys. The main focus of the interviews was to explore how the participants thought they might make a decision to take part in medical research. To better understand this, aspects of the…

Sex differences in typical development can provide context for understanding ASD. Baron-Cohen ("Trends Cogn Sci" 6(6):248-254, 2002) suggested ASD could be considered an extreme expression of normal male, compared to female, phenotypic profiles. In this paper, sex-specific M-CHAT scores from N = 53,728 18-month-old toddlers, including n…

Background: Individuals with intellectual disability experience high rates of bullying, but it is not known how people with specific syndromes, such as Williams syndrome (WS), experience and respond to bullying. Given their behavioral profile, including hypersociability and heightened anxiety, and their risk for experiencing other forms of…

Learning science is language intensive. Students might have to interpret the meaning of models, support claims with evidence, communicate arguments, and discuss phenomena and scientific principles. For English Language Learners (ELLs), engaging in scientific and engineering practices includes additional challenges. This article describes a series…

Background: This phenomenological study explores the perceptions, hopes, and dreams of relationships and parenting of women with a genetic intellectual disability. Method: Five women with both 22q11.2 deletion syndrome (22q11DS) and intellectual disability took part in semistructured interviews. Their subjective interpretations were analysed using…

Background: Mental health services for patients intellectual disabilities (ID) and additional mental illnesses are only sparsely studied. Objective: The objective was to describe a representative sample of patients with ID in a specialized psychiatric department. Methods: Data were collected from case files in a 7-year period. Of 143 invited…

The aim of this study was to understand how students' attitudes were connected to the web based software Socrative. The study was conducted with 50 students taking first year physics courses in a university. The survey dimensions were based on four previous research works and the survey instrument was extended to better reflect the current study…

The concept of precision medicine aims to provide additional context to patient data for healthcare providers. Precision medicine overlays three additional layers of patient data on top of standard patient information: environmental exposure, personal lifestyle and behavior patterns, and information gleaned from their genome. While precision…

In this small scale study in higher education, a good educational practice on the teaching of Bioethics based on transformative learning and accomplished by debates is presented. The research was carried out in June 2016 at the Department of Molecular Biology and Genetics, Democritus University of Thrace, Greece and it includes the assessment of…

This case-control study explores the association between pregnancy/birth complications and other factors with Autism Spectrum Disorder (ASD) in Lebanese subjects aged 2-18 years. Researchers interviewed 136 ASD cases from the American University of Beirut Medical Center Special Kids Clinic, and 178 controls selected by systematic digit dialing in…

National reports have called for the introduction of research experiences throughout the undergraduate curriculum, but practical implementation at many institutions faces challenges associated with sustainability, cost, and large student populations. We describe a novel course-based undergraduate research experience (CURE) that introduces…

Background: Rett syndrome (RTT), an X-linked, dominant, neurodevelopment disorder represents 10% of female subjects with profound intellectual disability. Mutations in the "MECP2" gene are responsible for up to 95% of the classical RTT cases, and nearly 500 different mutations distributed throughout the gene have been reported. Methods:…

Recently the "DRD3" gene has been associated with ASD in two independent samples. Follow up analysis of the risk allele of the SNP rs167771 in 91 subjects revealed a significant association with a specific type of repetitive behavior: the factor "insistence on sameness" (IS) derived from the Autism Diagnostic Interview. This risk allele was…

This report describes a novel, inquiry-based learning plan developed as part of the GENA educational outreach project. Focusing on mitochondrial genetics and disease, this interactive approach utilizes pedigree analysis and laboratory techniques to address non-Mendelian inheritance. The plan can be modified to fit a variety of educational goals…