Medical conditions in autism spectrum disorders

Autism spectrum disorder (ASD) is a behaviourally defined syndrome where the etiology and pathophysiology is only partially understood. In a small proportion of children with the condition, a specific medical disorder is identified, but the causal significance in many instances is unclear. Currently, the medical conditions that are best established as probable causes of ASD include Fragile X syndrome, Tuberous Sclerosis and abnormalities of chromosome 15 involving the 15q11-13 region. Various other single gene mutations, genetic syndromes, chromosomal abnormalities and rare de novo copy number variants have been reported as being possibly implicated in etiology, as have several ante and post natal exposures and complications. However, in most instances the evidence base for an association with ASD is very limited and largely derives from case reports or findings from small, highly selected and uncontrolled case series. Not only therefore, is there uncertainty over whether the condition is associated, but the potential basis for the association is very poorly understood. In some cases the medical condition may be a consequence of autism or simply represent an associated feature deriving from an underlying shared etiology. Nevertheless, it is clear that in a growing proportion of individuals potentially causal medical conditions are being identified and clarification of their role in etio-pathogenesis is necessary. Indeed, investigations into the causal mechanisms underlying the association between conditions such as tuberous sclerosis, Fragile X and chromosome 15 abnormalities are beginning to cast light on the molecular and neurobiological pathways involved in the pathophysiology of ASD. It is evident therefore, that much can be learnt from the study of probably causal medical disorders as they represent simpler and more tractable model systems in which to investigate causal mechanisms. Recent advances in genetics, molecular and systems biology and neuroscience now mean that there are unparalleled opportunities to test causal hypotheses and gain fundamental insights into the nature of autism and its development

Video as a mediating artefact of science learning: cogenerated views of what helps students learn from watching video

Abstract “Doing” science in the form of practical work is one pedagogical approach to learning science alongside others such as talking science, writing science, reading science and representing science. However, scientific ideas cannot always be illustrated through practical work or field trips, therefore, different kinds of activities are needed to represent these ideas. This study focused on the power of cogenerative dialogues for teachers to learn about their students and their video preferences for learning science in a secondary science classroom. The analysis of the use of video as a mediating artefact drew on an interpretive approach framed as authentic participant-centered inquiry and employed multiple theoretical frameworks to generate perspectives on the affordances and constraints of learning from video. Through a cogenerative dialogue intervention we found that video could afford the learning of scientific ideas, however, some videographic features were distracting to students and constrained their learning. We argue that video clips as cultural artefacts are inscribed with emotion that structures students’ opportunities to engage with scientific ideas. However, to accept the authoritative information presented in videos as facts uncritically was a missed opportunity to shape students’ epistemological understanding that scientific knowledge is evidence-based and subject to critique. The implications for designing pedagogical approaches that encourage a critical stance to explore the ongoing social construction and communication of scientific ideas are discussed