Why Are Autism Rates Steadily Rising?
Stefania Sterling was just 21 when she had her son, Charlie. She was young and healthy, with no genetic issues apparent in either her or her husband's family, so she expected Charlie to be typical.
"It is surprising that the prevalence of a significant disorder like autism has risen so consistently over a relatively brief period."
It wasn't until she went to a Mommy and Me music class when he was one, and she saw all the other one-year-olds walking, that she realized how different her son was. He could barely crawl, didn't speak, and made no eye contact. By the time he was three, he was diagnosed as being on the lower functioning end of the autism spectrum.
She isn't sure why it happened – and researchers, too, are still trying to understand the basis of the complex condition. Studies suggest that genes can act together with influences from the environment to affect development in ways that lead to Autism Spectrum Disorder (ASD). But rates of ASD are rising dramatically, making the need to figure out why it's happening all the more urgent.
The Latest News
Indeed, the CDC's latest autism report, released last week, which uses 2016 data, found that the prevalence of ASD in four-year-old children was one in 64 children, or 15.6 affected children per 1,000. That's more than the 14.1 rate they found in 2014, for the 11 states included in the study. New Jersey, as in years past, was the highest, with 25.3 per 1,000, compared to Missouri, which had just 8.8 per 1,000.
The rate for eight-year-olds had risen as well. Researchers found the ASD prevalence nationwide was 18.5 per 1,000, or one in 54, about 10 percent higher than the 16.8 rate found in 2014. New Jersey, again, was the highest, at one in 32 kids, compared to Colorado, which had the lowest rate, at one in 76 kids. For New Jersey, that's a 175 percent rise from the baseline number taken in 2000, when the state had just one in 101 kids.
"It is surprising that the prevalence of a significant disorder like autism has risen so consistently over a relatively brief period," said Walter Zahorodny, an associate professor of pediatrics at Rutgers New Jersey Medical School, who was involved in collecting the data.
The study echoed the findings of a surprising 2011 study in South Korea that found 1 in every 38 students had ASD. That was the the first comprehensive study of autism prevalence using a total population sample: A team of investigators from the U.S., South Korea, and Canada looked at 55,000 children ages 7 to 12 living in a community in South Korea and found that 2.64 percent of them had some level of autism.
Searching for Answers
Scientists can't put their finger on why rates are rising. Some say it's better diagnosis. That is, it's not that more people have autism. It's that we're better at detecting it. Others attribute it to changes in the diagnostic criteria. Specifically, the May 2013 update of the Diagnostic and Statistical Manual of Mental Disorders-5 -- the standard classification of mental disorders -- removed the communication deficit from the autism definition, which made more children fall under that category. Cynical observers believe physicians and therapists are handing out the diagnosis more freely to allow access to services available only to children with autism, but that are also effective for other children.
Alycia Halladay, chief science officer for the Autism Science Foundation in New York, said she wishes there were just one answer, but there's not. While she believes the rising ASD numbers are due in part to factors like better diagnosis and a change in the definition, she does not believe that accounts for the entire rise in prevalence. As for the high numbers in New Jersey, she said the state has always had a higher prevalence of autism compared to other states. It is also one of the few states that does a good job at recording cases of autism in its educational records, meaning that children in New Jersey are more likely to be counted compared to kids in other states.
"Not every state is as good as New Jersey," she said. "That accounts for some of the difference compared to elsewhere, but we don't know if it's all of the difference in prevalence, or most of it, or what."
"What we do know is that vaccinations do not cause autism."
There is simply no defined proven reason for these increases, said Scott Badesch, outgoing president and CEO of the Autism Society of America.
"There are suggestions that it is based on better diagnosis, but there are also suggestions that the incidence of autism is in fact increasing due to reasons that have yet been determined," he said, adding, "What we do know is that vaccinations do not cause autism."
Zahorodny, the pediatrics professor, believes something is going on beyond better detection or evolving definitions.
"Changes in awareness and shifts in how children are identified or diagnosed are relevant, but they only take you so far in accounting for an increase of this magnitude," he said. "We don't know what is driving the surge in autism recorded by the ADDM Network and others."
He suggested that the increase in prevalence could be due to non-genetic environmental triggers or risk factors we do not yet know about, citing possibilities including parental age, prematurity, low birth rate, multiplicity, breech presentation, or C-section delivery. It may not be one, but rather several factors combined, he said.
"Increases in ASD prevalence have affected the whole population, so the triggers or risks must be very widely dispersed across all strata," he added.
There are studies that find new risk factors for ASD almost on a daily basis, said Idan Menashe, assistant professor in the Department of Health at Ben-Gurion University of the Negev, the fastest growing research university in Israel.
"There are plenty of studies that find new genetic variants (and new genes)," he said. In addition, various prenatal and perinatal risk factors are associated with a risk of ASD. He cited a study his university conducted last year on the relationship between C-section births and ASD, which found that exposure to general anesthesia may explain the association.
Whatever the cause, health practitioners are seeing the consequences in real time.
"People say rates are higher because of the changes in the diagnostic criteria," said Dr. Roseann Capanna-Hodge, a psychologist in Ridgefield, CT. "And they say it's easier for children to get identified. I say that's not the truth and that I've been doing this for 30 years, and that even 10 years ago, I did not see the level of autism that I do see today."
Sure, we're better at detecting autism, she added, but the detection improvements have largely occurred at the low- to mid- level part of the spectrum. The higher rates of autism are occurring at the more severe end, in her experience.
A Polarizing Theory
Among the more controversial risk factors scientists are exploring is the role environmental toxins may play in the development of autism. Some scientists, doctors and mental health experts suspect that toxins like heavy metals, pesticides, chemicals, or pollution may interrupt the way genes are expressed or the way endocrine systems function, manifesting in symptoms of autism. But others firmly resist such claims, at least until more evidence comes forth. To date, studies have been mixed and many have been more associative than causative.
"Today, scientists are still trying to figure out whether there are other environmental changes that can explain this rise, but studies of this question didn't provide any conclusive answer," said Menashe, who also serves as the scientific director of the National Autism Research Center at BGU.
"It's not everything that makes Charlie. He's just like any other kid."
That inconclusiveness has not dissuaded some doctors from taking the perspective that toxins do play a role. "Autism rates are rising because there is a mismatch between our genes and our environment," said Julia Getzelman, a pediatrician in San Francisco. "The majority of our evolution didn't include the kinds of toxic hits we are experiencing. The planet has changed drastically in just the last 75 years –- it has become more and more polluted with tens of thousands of unregulated chemicals being used by industry that are having effects on our most vulnerable."
She cites BPA, an industrial chemical that has been used since the 1960s to make certain plastics and resins. A large body of research, she says, has shown its impact on human health and the endocrine system. BPA binds to our own hormone receptors, so it may negatively impact the thyroid and brain. A study in 2015 was the first to identify a link between BPA and some children with autism, but the relationship was associative, not causative. Meanwhile, the Food and Drug Administration maintains that BPA is safe at the current levels occurring in food, based on its ongoing review of the available scientific evidence.
Michael Mooney, President of St. Louis-based Delta Genesis, a non-profit organization that treats children struggling with neurodevelopmental delays like autism, suspects a strong role for epigenetics, which refers to changes in how genes are expressed as a result of environmental influences, lifestyle behaviors, age, or disease states.
He believes some children are genetically predisposed to the disorder, and some unknown influence or combination of influences pushes them over the edge, triggering epigenetic changes that result in symptoms of autism.
For Stefania Sterling, it doesn't really matter how or why she had an autistic child. That's only one part of Charlie.
"It's not everything that makes Charlie," she said. "He's just like any other kid. He comes with happy moments. He comes with sad moments. Just like my other three kids."
The news last November that a rogue Chinese scientist had genetically altered the embryos of a pair of Chinese twins shocked the world. But although this use of advanced technology to change the human gene pool was premature, it was a harbinger of how genetic science will alter our healthcare, the way we make babies, the nature of the babies we make, and, ultimately, our sense of who and what we are as a species.
The healthcare applications of the genetics revolution are merely stations along the way to the ultimate destination.
But while the genetics revolution has already begun, we aren't prepared to handle these Promethean technologies responsibly.
By identifying the structure of DNA in the 1950s, Watson, Crick, Wilkins, and Franklin showed that the book of life was written in the DNA double helix. When the human genome project was completed in 2003, we saw how this book of human life could be transcribed. Painstaking research paired with advanced computational algorithms then showed what increasing numbers of genes do and how the genetic book of life can be read.
Now, with the advent of precision gene editing tools like CRISPR, we are seeing that the book of life -- and all biology -- can be re-written. Biology is being recognized as another form of readable, writable, and hackable information technology with we humans as the coders.
The impact of this transformation is being first experienced in our healthcare. Gene therapies including those extracting, re-engineering, then reintroducing a person's own cells enhanced into cancer-fighting supercells are already performing miracles in clinical trials. Thousands of applications have already been submitted to regulators across the globe for trials using gene therapies to address a host of other diseases.
Recently, the first gene editing of cells inside a person's body was deployed to treat the genetically relatively simple metabolic disorder Hunter syndrome, with many more applications to come. These new approaches are only the very first steps in our shift from the current system of generalized medicine based on population averages to precision medicine based on each patient's individual biology to predictive medicine based on AI-generated estimations of a person's future health state.
Jamie Metzl's groundbreaking new book, Hacking Darwin: Genetic Engineering and the Future of Humanity, explores how the genetic revolution is transforming our healthcare, the way we make babies, and the nature of and babies we make, what this means for each of us, and what we must all do now to prepare for what's coming.
This shift in our healthcare will ensure that millions and then billions of people will have their genomes sequenced as the foundation of their treatment. Big data analytics will then be used to compare at scale people's genotypes (what their genes say) to their phenotypes (how those genes are expressed over the course of their lives).
These massive datasets of genetic and life information will then make it possible to go far beyond the simple genetic analysis of today and to understand far more complex human diseases and traits influenced by hundreds or thousands of genes. Our understanding of this complex genetic system within the vaster ecosystem of our bodies and the environment around us will transform healthcare for the better and help us cure terrible diseases that have plagued our ancestors for millennia.
But as revolutionary as this challenge will be for medicine, the healthcare applications of the genetics revolution are merely stations along the way to the ultimate destination – a deep and fundamental transformation of our evolutionary trajectory as a species.
A first inkling of where we are heading can be seen in the direct-to-consumer genetic testing industry. Many people around the world have now sent their cheek swabs to companies like 23andMe for analysis. The information that comes back can tell people a lot about relatively simple genetic traits like carrier status for single gene mutation diseases, eye color, or whether they hate the taste of cilantro, but the information about complex traits like athletic predisposition, intelligence, or personality style today being shared by some of these companies is wildly misleading.
This will not always be the case. As the genetic and health data pools grow, analysis of large numbers of sequenced genomes will make it possible to apply big data analytics to predict some very complex genetic disease risks and the genetic components of traits like height, IQ, temperament, and personality style with increasing accuracy. This process, called "polygenic scoring," is already being offered in beta stage by a few companies and will become an ever bigger part of our lives going forward.
The most profound application of all this will be in our baby-making. Before making a decision about which of the fertilized eggs to implant, women undergoing in vitro fertilization can today elect to have a small number of cells extracted from their pre-implanted embryos and sequenced. With current technology, this can be used to screen for single-gene mutation diseases and other relatively simple disorders. Polygenic scoring, however, will soon make it possible to screen these early stage pre-implanted embryos to assess their risk of complex genetic diseases and even to make predictions about the heritable parts of complex human traits. The most intimate elements of being human will start feeling like high-pressure choices needing to be made by parents.
The limit of our imagination will become the most significant barrier to our recasting biology.
Adult stem cell technologies will then likely make it possible to generate hundreds or thousands of a woman's own eggs from her blood sample or skin graft. This would blow open the doors of reproductive possibility and allow parents to choose embryos with exceptional potential capabilities from a much larger set of options.
The complexity of human biology will place some limits to the extent of possible gene edits that might be made to these embryos, but all of biology, including our own, is extremely flexible. How else could all the diversity of life have emerged from a single cell nearly four billion years ago? The limit of our imagination will become the most significant barrier to our recasting biology.
But while we humans are gaining the powers of the gods, we aren't at all ready to use them.
The same tools that will help cure our worst afflictions, save our children, help us live longer, healthier, more robust lives will also open the door to potential abuses. Prospective parents with the best of intentions or governments with lax regulatory structures or aggressive ideas of how population-wide genetic engineering might be used to enhance national competitiveness or achieve some other goal could propel us into a genetic arms race that could undermine our essential diversity, dangerously divide societies, lead to dangerous, destabilizing, and potentially even deadly conflicts between us, and threaten our very humanity.
But while the advance of genetic technologies is inevitable, how it plays out is anything but. If we don't want the genetic revolution to undermine our species or lead to grave conflicts between genetic haves and have nots or between societies opting in and those opting out, now is the time when we need to make smart decisions based on our individual and collective best values. Although the technology driving the genetic revolution is new, the value systems we will need to optimize the benefits and minimize the harms of this massive transformation are ones we have been developing for thousands of years.
And while some very smart and well-intentioned scientists have been meeting to explore what comes next, it won't be enough for a few of even our wisest prophets to make decisions about the future of our species that will impact everyone. We'll also need smart regulations on both the national and international levels.
Every country will need to have its own regulatory guidelines for human genetic engineering based on both international best practices and the country's unique traditions and values. Because we are all one species, however, we will also ultimately need to develop guidelines that can apply to all of us.
As a first step toward making this possible, we must urgently launch a global, species-wide education effort and inclusive dialogue on the future of human genetic engineering that can eventually inform global norms that will need to underpin international regulations. This process will not be easy, but the alternative of an unregulated genetic arms race would be far worse.
The overlapping genomics and AI revolutions may seem like distant science fiction but are closer than you think. Far sooner than most people recognize, the inherent benefits of these technologies and competition between us will spark rapid adoption. Before that spark ignites, we have a brief moment to come together as a species like we never have before to articulate and translate into action the future we jointly envision. The north star of our best shared values can help us navigate the almost unimaginable opportunities and very real challenges that lie ahead.
Here's something to chew on. Can a gulp of water help save the planet? If you're drinking *and* eating your water at the same time, the answer may be yes.
The tasteless packaging is made from brown seaweed that biodegrades naturally in four to six weeks.
The Lowdown
A start-up company called Skipping Rocks Lab has created a "water bubble" encased in an edible sachet that you can pop in your mouth whole. Or if you're not into swallowing it, you can tear off the edge, drink up, and toss the rest in a composter. The tasteless packaging is made from brown seaweed that biodegrades naturally in four to six weeks, whereas plastic water bottles can linger for hundreds of years.
The founders of the London-based company are determined to "make plastic packaging disappear." They had two foodie inspirations: molecular gastronomists and fruit. They tried to emulate the way chefs used edible membranes to encase bubbles of liquid to make things like fake caviar and fake egg yolks; and they also considered the peel of an orange or banana, which protects the tasty insides but can be composted.
The sachets can also contain other liquids that come in single-serve plastic containers -- think packets of condiments with takeout meals, specialty cocktails at parties, and especially single servings of water for sporting events. The London Marathon last month gave out the water bubble pods at a station along the route, using them to replace 200,000 plastic bottles that would have likely ended up first in the street, and ultimately in the ocean.
Next Up
The engineers and chemists at Skipping Rocks intend to lease their machines to others who can then manufacture their own sachets on-site to fill with whatever they desire. The new material, which is dubbed "Notpla" (not plastic), also has other applications beyond holding liquids. It can be used to replace the plastic lining in cardboard takeout boxes, for example. And the startup is working on additional materials to replace other types of ubiquitous plastic packaging, like the netting that encases garlic and onions, and the sachets that hold nails and screws.
Edible water bubbles may be the future of drinks at sporting events and festivals.
Open Questions
One hurdle is that the pods are not very hardy, so while they work fine to hand out along a marathon route, they wouldn't really be viable for a hiker to throw in her backpack. Another issue concerns the retail market: to be stable on a shelf, they'd have to be protected from all that handling, which brings us back to the problem the engineers tried to solve in the first place -- disposable packaging.
So while Skipping Rocks may not achieve their ultimate goal of ridding the world of plastic waste, a little progress can still go a long way. If edible water bubbles are the future of drinks at sporting events and festivals, the environment will certainly benefit from their presence -- and absence.