Communication deficits have a substantial impact on quality of life for individuals with Angelman syndrome (AS) and their families, but limited qualitative work exists to support the necessary content of measures aiming to assess communication for these individuals. Following best practices for concept elicitation studies, we conducted individual…

We identify and discuss the phenomenon of narrative stability, in the context of current methodological literature on interviewing. It derives from two independent studies, undertaken fifteen years apart, of members of the same genetics research group who were interviewed by different researchers. The first ('Discovery') interviews were collected…

Background: Advances in medical genetics herald the possibility that health and social care services could be more responsive to the needs arising from a person's genotype. This development may be particularly important for those men and women whose learning disability (known internationally as intellectual disability) is linked to a…

Although instruction on meiosis is repeated many times during the undergraduate curriculum, many students show poor comprehension even as upper-level biology majors. We propose that the difficulty lies in the complexity of understanding DNA, which we explain through a new model, the DNA triangle. The "DNA triangle" integrates three…

Autism spectrum disorder (ASD) diagnosis relies on parent-reported and clinician-observed instruments. Sometimes, results between these instruments disagree. The broader autism phenotype (BAP) in parent-reporters may be associated with discordance. Study to Explore Early Development data (N = 712) were used to address whether mothers with BAP and…

While elementary teachers do not typically cover the structure and function of DNA, their students can easily understand that organisms have observable traits, that each individual has a unique combination of traits, and that the "recipe" for traits is passed from parent to offspring. The Genetic Science Learning Center has developed and…

Background: The perceptions of individuals with Down syndrome are conspicuously absent in discussions about the use of prenatal testing. Method: Eight individuals with Down syndrome were interviewed about their views and experience of the topic of prenatal testing. Results: Interpretative phenomenological analysis revealed two major themes with…

This article offers a philosophical-empirical account of embodied skilful performance in the practice of plant biotechnology. Drawing on the work of Merleau-Ponty and others, we elaborate how skilful performance emerges from and through reciprocal relations encompassing the body-in-the-world and the world-in-the-body. The contribution of this…

Commodification is becoming an increasingly common phenomenon in the modern world. A vivid example of the commodification of unique objects is commercial surrogacy services, which transform the status of motherhood from being a "woman's social vocation" into a service whose end product is a human life that is valued in monetary terms.…

The 2018 Cleveland conference screened a documentary film titled "Symbiotic Earth: How Lynn Margulis Rocked the Boat and Started a Scientific Revolution." NAMTA conference participants enjoyed this memorable premier event in honor of Lynn Margulis, her symbiotic worldview, and her intimate community of scientific stars. This article is…

Accumulating evidence suggests that early adversity is linked to methylation of the glucocorticoid receptor (GR) gene, "NR3C1," which is a key regulator of the hypothalamic-pituitary-adrenal axis. Yet no prior work has considered the contribution of methylation of "NR3C1" to emerging behavior problems and psychopathology in…

Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results influence parents' beliefs about etiology and prognosis. We conducted in-depth interviews and surveys with 57 parents of children with ASD who received CMA results categorized as pathogenic,…

In communities with an increased prevalence of hereditary deafness, social, and linguistic adaptations are found in response. Aulbers (1959) describes a high prevalence of deafness in a fishing village on the Dutch coast: Katwijk aan Zee. This article aims to assess the current prevalence of deafness in Katwijk, as well as the current sign…

There are strong classroom ties between mathematics and the sciences of physics and chemistry, but those ties seem weaker between mathematics and biology. Practicing biologists realize both that there are interesting mathematics problems in biology, and that viewing classroom biology in the context of another discipline could support students'…

An essential component skill of monitoring and reflection during problem solving is work checking, a process used by experts while solving problems to determine if their solution is achieving the goal. The results of work checking may reveal errors or inconsistencies, indicating a need for iteration. Using think-aloud interviews, the authors…