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The quest for autism’s causes, and what it reveals about all of us

Emily Willingham Knowable Magazine As alarm grew over autism prevalence at the turn of this century, there was much public talk of a growing “epidemic.” That language has since softened, and it is now clear that many autistic people were there all along, their condition unrecognized until relatively recently. But what is the cause? The emerging narrative today is that there is no single cause—rather, multiple factors, roughly sorted into the categories of genetics and environment, work together in complex ways. Because of this complexity and the hundreds of gene variants that have been implicated, developing human brains may follow many possible paths to arrive at a place on the autism spectrum. And this may help explain something true about autism: It varies greatly from one person to the next. As clinicians view it, autism involves communication deficits and formulaic, repetitive behaviors that present obstacles to establishing conventional relationships. The…

IMFAR 2012 Roundup: Genetics of Autism and Animal Models

Emily Willingham www.ThinkingAutismGuide.com Caveat: All findings discussed here were presented at a conference and have not undergone peer review. —- What is the use of animal models? I understand the use of animal models like mice to figure out how gene changes affect outcomes in a whole animal, rather than, say, in cells in a dish. I’ve used them myself. Knocking out a gene of interest in a mouse strain, applying an environmental exposure of interest, observing the behavior of the mouse involved — these tactics can be revealing, sometimes. Say a mouse with a nonfunctioning partner in a gene pair shows a specific behavior — like vocalizing less to its mother — and maybe we can interpret that in human terms as being inhibited social communication and assume the gene in question is involved.  The idea is that observing changes linked to the absence or overabundance of a particular…

IMFAR 2012: Genetic Variants in ASD

Any omissions or errors in this summary are on TPGA; we have tried to include explanatory links for specific scientific terms. -SR Common and Genetic Variants in the Etiology of ASD: Where is the Field Heading? Bernie Devlin University of Pittsburgh Statistical geneticist, helps design projects & studies. Dr. Devlin’s goal: convince you that we know quite a bit about the genetics of autism, in a few years we’ll know more. Exciting times! Are those times going to continue? Devlin maintains, yes.     Using array-based tech & high throughput sequencing,     Samples and collaboration He considers that discovery of autism risk genes is going to increase exponentially in near future. How will we get there? Autism Genome Project (AGP) Trios: Mother, Father, ASD child Families could be multiplex (2+ ASD individuals per family) or simplex (1 ASD individual per family)     Simons Simplex Collection (SSC) Families are mostly quartets (Mother,…

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How Thinking People Read News About Science: The Double X Double-Take

Emily Willingham doublexscience.blogspot.com www.ThinkingAutismGuide.com Handy short-form version. [image: Light purple vertical rectangle, with black text reading: Double X Double-Take Checklist for reading science news 1. Skip the headline. 2. What is the basis of the article: original research, opinion, review of previous work? 3. What words does the article use? Link, correlation, risk, association don’t mean “biological cause” 4. Look at the original source of the information. Is it from  a journal, a conference presentation, a marketing tool? 5. Remember that everyone involved in what you’re reading has some return on what they’re seeking. 6. Ask a scientist for clarification. Don’t be afraid. We like to talk about science.] You’ve probably seen a lot of headlines lately about autism and various behaviors, ways of being, or “toxins” that, the headlines tell you, are “linked” to it. Maybe you’re considering having a child and are mentally tallying up the various risk factors…