The Autistic Me

Press Release: Using New Statistical Tools, Carnegie Mellon's Kathryn Roeder Finds Genetic Risk for Autism Stems Mostly From Common Genes -Carnegie Mellon News - Carnegie Mellon University I've written before about spontaneous, de novo, genetic variation and autism. The theory, which I consider favored by current research, is that genetics represent the primary  factor contributing to autistic traits. Now, with statistical modeling, researchers find a likely correlation between genetics and autism. If mild autistic traits are within inherited genetics, this suggests autistics are somewhere along the "spectrum" based on which  additional  variations occur. "Within a given family, the mutations could be a critical determinant that leads to the manifestation of ASD in a particular family member," said Joseph Buxbaum, the study's first author and professor of psychiatry, neuroscience, genetics and genomic sciences at the Icahn School of Medicine at Mou...

I've been sitting on this report for a month or two while I did a bit more research on the original sources and similar studies. As regular readers of this blog know, I believe autism is better described as "autisms" and that likely contributors include de novo genetic complications (sometimes called pre-natal genetic copy variation). In these forms of autism, genes replication introduces errors. This is not the genetic of heredity, a common misconception when the term "genetic" is used to describe some forms of autism. From CBS News: Children with autism have distinct facial features For the study - published in the Oct. 14 issue of Molecular Autism - researchers compared facial features in 64 boys with autism with faces of 41 typically developing boys, all 8-12 years old, with a 3-D camera system. After mapping out 17 points on faces, the researchers found significant differences between the two groups.  The study found children with autism had wider ey...

Experts critique statistics, conclusion of autism twin study - News & Commentary - Simons Foundation Autism Research Initiative (SFARI) : "For example, in March, Shiva Singh's group at the University of Western Ontario analyzed the genomes of identical twins among whom only one twin has schizophrenia. Singh's team found that identical twins carry different spontaneous genetic mutations." It is difficult for many laypeople, and even some with science backgrounds, to accept that "genetic" does not mean hereditary. I've written about this several times. Genes mutate during development of the fetus. During the first six to eight stages of development, minor errors in replication can affect all future development. Changing one cell among millions isn't so bad. Changing one cell among hundreds? That leads to potentially serious spontaneous genetic replication ("copy number variant") errors.

Thursday night I noticed the following on FoxNews.com: Dr. Manny Says Autism Breakthrough Is Real...For Now By Dr. Manny Alvarez Published June 09, 2011 | FoxNews.com …[W]hen you look at a family that delivers twins, and one is autistic and the other is not, as a scientist, I have to believe there is a genetic component to the problem. The studies, published in the journal Neuron, appear to have proven as much. The researchers examined the genomes of more than 1,000 families in which one child was autistic and the siblings and parents were not. Their findings confirmed a growing body of evidence that autism can be caused by a random genetic mutation that could occur at any one of hundreds of different sites in the human genome. On behalf of my son, who was born with autism, and my family, I just want to congratulate the men and women who spent years working on this research. The comments were soon filled with the standard anti-vaccine rhetoric, government conspiracy claims, and general...

See the full story online and you can locate the journal article, as well. Scientists Link 'Sets' of Genetic Abnormalities to Autism Risk - US News and World Report Searching for links between genetic irregularities and abnormal motor control and/or learning disabilities, the study authors focused on so-called CNVs -- "copy number variations" -- that occur when the number of copies of a particular gene varies from one individual to the next. These CNVs accounted for relatively big chunks of the genetic mutations, the researchers said. In all, about 800 CNVs were identified as exclusive to autistic children. In addition, the CNVs in question tended to be found in genes central to the impaired biological functions that show up in autistic behavior, such as those involving synapse function, nerve cell communication, and brain development, the CHOP researchers said. Ashley Scott-Van Zeeland, a postdoctoral research fellow at the Scripps Translational Science Institu...

Scientists are seeking what makes people different, at least genetically. What is done with this information is the realm of ethics and morality, not genetics. I'm autistic or a person with autism or whatever. I don't care what the label is. I was what I am before the label even existed and I'll be me long after some silly group of people change the labels and criteria again. What will not change (in theory) is my genetic composition. That fact of whatever genetic variation exists in my cells does not change regardless of the label and even regardless of a geneticist discovering it or not. "Autism(s)" predate genetics just as all human conditions predate their modern-language labels and cultural reactions. I am curious to know what make me who I am. What I do not want are choices made that assume my traits somehow reduce the value of my life. That's a cultural matter. We must change perceptions of "autism" within the culture; only then will the genet...

The great portal/blog Left Brain / Right Brain has a lengthy post on current research dealing with potential causes of autism. The post offers links to multiple peer-reviewed studies underway on the familiar suspects, ranging from mercury to the age of parents. Of course, no amount of research will influence the zealots, but I can at least suggest reading the actual studies underway: GENE-ENVIRONMENT INTERACTIONS IN AN AUTISM BIRTH COHORT AUTISM IN A FISH EATING POPULATION (a study of a population exposed to high levels of mercury) NEUROIMMUNOTOXICOLOGY OF MERCURY GENETIC SUSCEPTIBILITY TO MERCURY-INDUCED IMMUNE DYSFUNCTION IN AUTISM & ASD Again, I can only suggest reading and following the research. Many of the early findings demonstrate what we already know: mercury and other toxins are dangerous. What the findings do not, at least not yet, demonstrate is that mercury or other heavy metals are the primary cause of autism. Mercury exposure in adults does cause neurological damag...

I am quite open that I support genetic-based theories of autism etiology, while also open to the notion of triggers. Genetic predisposition is only that: predisposition. Many genetic conditions respond to triggers, so the two are not exclusionary. Today, there is a bit more on the genetics of autism. But even the most common genetic changes in his study were found in only 1% or less of patients, Scherer says. That suggests that "most individuals with autism are probably genetically quite unique, each having their own genetic form of autism," says Scherer, of the Hospital for Sick Children in Toronto, one of 120 scientists from 11 countries working on the study, called the Autism Genome Project. As co-author Stanley Nelson of the University of California-Los Angeles describes it, "If you had 100 kids with autism, you could have 100 different genetic causes." I have written before about the likelihood of the following: [D]octors may be able to use these findings to of...

Autism Genes: Better Test May Help Screen Causes - ABC News I always find myself torn with stories like this. The part of me that embraces science would prefer scientific ways to diagnose individuals and count autism rates. Yet, I also wonder what becomes of such scientific abilities. The issues that immediately come to mind include: Would parents eventually use genetic screening to avoid raising children with autism disorders? Would insurance companies cover these tests, possibly including this with other genetic screening? Would the government, which must pay for accommodations, use this test for less than ideal purposes? These are things I ponder. I don't have answers, but we are getting closer and closer to having to address serious ethical and social issues associated with genetic screening. We have already witnessed what happens with Down Syndrome screening.

This is from an interview About.com conducted May 1 with researcher Hakon Hakonarson, the lead researcher on an autism genetic database analysis conducted by Children's Hospital of Philadelphia. Question: Could any of these genetic differences be identified in utero? Response: Yes, all of them could be tested in utero; we have identified 10 new variations (9 rare and 1 common) and we have replicated (and confired) four other once that were previously published (neurexin 1, contactin 4, 15q11 and 22q11). However, we do not have a yes or no answer as to whether the fetus will be autistic -- but if we are testing a fetus in an autistic family the value of the test is much higher. I know something more should be said, but I'm not sure what. We know that autism is a set of symptoms, without a clear etiology. But, this genetic finding certainly brings us closer to understanding some of the symptoms consistent with the DSM-IV criteria for autism disorders. Experiments on mice reveal...