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Autism in the News: New Studies Use Genetics to Advance Bold New Hypotheses

As we do every week, in looking back at the past week in autism news, we found one overriding topic connecting the major autism-related news stories: genetics. Both of the stories that we’ll discuss below posits a new theory about how autism interacts with an individual’s genes. Whether it be symptoms that had been previously attributed to autism showing up in the genes of the general population or autism affecting the genes that relate to how long a person lives, this week is all about our genes.

First up, a new study published in Nature Genetics found that the same genes involved in predisposing people to autism appear to influence social skills in the wider population, suggesting that the autism spectrum has no clear cut-off point, scientists have discovered. While previously, scientists had demonstrated that rather than being connected to one or two major genes in a person, autism is more the sum of many smaller genetic changes.

Dr. Elise Robinson, from Harvard University and a lead author on the paper, said: “This is the first study that specifically shows that … factors that we have unambiguously associated with autism are also very clearly associated with social communication differences in the general population.” Taking a page out of Alfred Kinsey’s notebook, Robinson doesn’t believe that one should look at someone as either having or not having autism. Rather, she argues, we should look at people in terms of a sliding scale that is measured against the whole of society.

The primary implication is that the line at which we say people are affected or unaffected is “arbitrary,” said Robinson. “There is no clear objective point either in terms of genetic risk or in terms of behavioral traits, where you can say quite simply or categorically that you’re affected or unaffected. It’s like trying to pick a point where you say someone is tall or not.” Robinson and her team came to this conclusion by analyzing five different datasets culled from over 38,000 individuals and looking for both rare mutations in individual genes and more complex genetic patterns across the entire genome that are known to predispose people to being diagnosed with autism. In either case, the team found that these genetic factors linked to autism also influenced traits relating to social communication in people who have not been diagnosed with the disease, although the authors stress that the influence of individual genetic factors on how accessible you find social situations to be is small.

On a slightly dourer note, our other major story of the week covers a recent study conducted in Sweden that found that individuals with autism generally live eighteen years less than their neurotypical counterparts and that the main cause of death is suicide. The researchers suspect that the shorter term of life is a combination of social and health factors, but are quick to point out that autism itself is unlikely the cause. Rather, they point to bullying that can arise in schools and in communities when symptoms present themselves and make the individual a subject of scrutiny and mockery. People with ASD had a 2.56-fold increased risk of death compared to those without a diagnosis. In men, the odds were worse than women and both low- and high-functioning people were at greater risk, though lower function increased the risk of death.

“This new research confirms the true scale of the hidden mortality crisis in autism,” Jon Spiers, chief executive of Autistica, which published a report on the Swedish study, said in a press release. “The inequality in outcomes for autistic people shown in this data is shameful. We cannot accept a situation where many autistic people will never see their 40th birthday.” While on first blush this is rather discouraging news, it provides a statistical and scientific argument for increased care in people with autism, especially children. Simply put, bullying needs to be constantly guarded against and safe spaces are needed to ensure that children are able to develop positive self-worth that will stick with them as they transition into adulthood.