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.
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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."
Would You Eat These Futuristic Foods?
Imagine it's 2050. You wake up and make breakfast: fluffy scrambled eggs that didn't come from a chicken, but that taste identical to the ones you remember eating as a kid. You would never know that the egg protein on your plate, ovalbumin, was developed in an industrial bioreactor using fungi.
"We have this freedom to operate, freedom to engineer way beyond what we have now with livestock or plants."
For lunch, you head to your kitchen's 3D printer and pop in a cartridge, select your preferred texture and flavor, then stand back while your meal is chemically assembled. Afterward, for dessert, you snack on some chocolate that tastes more delicious than the truffles of the past. That's because these cocoa beans were gene-edited to improve their flavor.
2050 is not a random year –it's when the United Nations estimates that the world population will have ballooned to nearly 10 billion people. That's a staggering number of mouths to feed. So, scientists are already working on ways to make new food products that are unlike anything we consume today, but that could offer new, potentially improved nutritional choices and sustainable options for the masses. To whet your appetite, here are three futuristic types of food that are currently in development around the world:
1) Cellular Agriculture
Researchers at VTT Technical Research Centre of Finland, a leading R&D organization in Europe, are on the cutting-edge of developing a whole new ecosystem of food with novel ingredients and novel functionality.
In the high-tech world of cellular agriculture, single-cell organisms can be used in contained environments to produce food ingredients that are identical to traditionally sourced ingredients. For example, whey protein can be developed inside a bioreactor that is functionally the same as the kind in cow's milk.
Ditto for eggs without a chicken – so the world will finally know which came first.
The steel tank bioreactors in VTT´s piloting facility are used to grow larger amounts of plant cells or to brew dairy and egg proteins with microbes.
(VTT)
"We take the gene from a chicken genome, and place that in a microbe, and then the microbe can, with those instructions, make exactly the same protein," explains Lauri Reuter, a Senior Specialist at VTT who holds a doctorate in biotechnology. "It will swim in this bioreactor and kick out the protein, and we get this liquid that can be purified. Then you would cook or bake with it, and the food you would eat tastes and looks like food you would eat right now."
But why settle for what chickens can do? With this technology, it's possible, for example, to modify the ovalbumin protein to decrease its allergenicity.
"This is the power of what we can do with modern tools of genetic engineering," says Christopher Landowski,a Research Team Leader of the Protein Production Team. And the innovative potential doesn't stop there.
"We have this freedom to operate, freedom to engineer way beyond what we have now with livestock or plants," Reuter says. Future foods sourced from cells could include meat analogues, sugar substitutes, dairy substitutes, nutritious veggies that don't taste bitter, personalized nutrition – ingredients designed for individual needs; the list goes on. It could even be used one day to produce food on Mars.
The researchers emphasize the advantages of this method: their living cell factories are efficient – no care of complex animals is required; they can scale up or down in reaction to demand; their environments are contained and don't require antibiotics; and they provide an alternative to using animals.
But the researchers also readily admit that the biggest obstacle is consumer acceptance, which is why they seek to engage with people along the way to alleviate any concerns and to educate them about the technology. Novel foods of this sort have already been eaten in research settings, but it may take another three to five years before the egg and milk proteins hit the market, probably first in the United States before Europe.
Eventually, the researchers anticipate widespread adoption.
Emilia Nordlund, who directs the Food Solutions team, predicts, "Cellular agriculture will revolutionize the food industry as dramatically as the Internet revolutionized many other industries."
Jams made of culture cells of various plants: strawberry, scurvy grass, arctic bramble, tobacco, cloudberry and lingonberry.
(VTT/Lauri Reuter)
2) 3D-printed foods
In South Korea, researchers are developing 3D-printed foods to help solve a problem caused by aging. Elderly people often rely on soft foods which are easier to chew, but aren't always healthy, like Jello and pudding.
With 3D printing, foods of softer textures can be created with the same nutritional value as firmer food, via a processing method that breaks down the food into tiny nutrients by grinding it at a very low temperature with liquid nitrogen.
"The goal is that someone at home can print out food with whatever flavor and texture they want."
The micro-sized food materials are then reconstructed in layers to form what looks like a Lego block. "The cartridges are all textures, some soft and some stiff," explains Jin-Kyu Rhee, associate professor at Ewha Womans University, whose project has been funded for the last three years by the South Korean government. "We are developing a library of food textures, so that people can combine them to simulate a real type of food."
Users could then add powdered versions of various ingredients to create customized food. Flavor, of course, is of prime importance too, so the cartridges have flavors like barbecue to help simulate the experience of eating "real" food.
"The goal is that someone at home can print out food with whatever flavor and texture they want," Rhee says. "They can order their own cartridge and digital recipes to generate their own food, ready to cook with a microwave oven." It could also be used for space travel.
Rhee expects the prototype of the printer to be completed by the end of this year and will then seek out a commercial partner. If all goes well, you might be able to set up your 3D printer next to your coffee pot by 2025.
3) CRISPR-edited foods
You may not know that the cocoa plant is having a tough time out there in nature. It's plagued by fungal disease; on farms, about 30 to 40 percent of the potential cocoa beans are lost every year. For all the chocolate lovers of the world, this means less to go around.
Conventional plant breeding is very slow for trees, so researchers like Mark Guiltinan at Penn State University are devising ways to increase the plants' chances for survival – without moving any genes between species, as in genetically modified organisms (GMOs).
"Because society hasn't really embraced [GMOs] very much, we're trying to develop ways that don't use transgenic plants and speed up breeding," Guiltinan says.
He and his colleagues are using CRISPR-cas9, the precise method of editing DNA, to imbue cocoa plants with immunity to fungal disease.
How does it work? Similar to humans, the plants have an immune system. Part of it functions like brakes, repressing the whole system so it's only working when it needs to.
"Like when you get a fever, your immune system is working full blast, but your body shuts it down when it doesn't need it," he explains. "Plants do exactly the same thing. One idea is if we can reduce or eliminate that brake on the immune system, we could make plants that have a very high immunity."
A CRISPR-edited npr3 mutant cacao plantlet, not too much to see yet, but soon it will become a happy plant in the greenhouse.
(Photo credit: Mark Guiltinan)
The CRISPR-cas9 system allows "a really amazing little protein" to go into the cocoa plant cell, find a specific gene, and shut it off to put the whole immune system into overdrive. This confers the necessary immunity, and though the plant burns through a lot of energy, as if it has a fever all the time, this method would allow for more plants to fend off the fungal attacks every year. Which means more chocolate. It could also greatly reduce the need for pesticides.
"Replacing chemicals with genetics is one part of our goal," Guiltinan says. "And it's totally safe." Another goal of his project is to improve the cocoa beans' quality and flavor profile through gene editing.
Yum. Is your mouth watering yet?
Kira Peikoff was the editor-in-chief of Leaps.org from 2017 to 2021. As a journalist, her work has appeared in The New York Times, Newsweek, Nautilus, Popular Mechanics, The New York Academy of Sciences, and other outlets. She is also the author of four suspense novels that explore controversial issues arising from scientific innovation: Living Proof, No Time to Die, Die Again Tomorrow, and Mother Knows Best. Peikoff holds a B.A. in Journalism from New York University and an M.S. in Bioethics from Columbia University. She lives in New Jersey with her husband and two young sons. Follow her on Twitter @KiraPeikoff.
Got a Virus? Its Name Matters More Than You Think
It's a familiar scenario: You show up at the doctor feeling miserable—sneezing, coughing, lethargic. We've all been there. And we've all been told the same answer: we're suffering from "a virus."
Failing to establish a specific microbial cause undermines the health of individual patients—and potentially the public at large.
Some patients may be satisfied with that diagnosis, others may be frustrated, and still others may demand antibiotic treatment for a bacterial infection that is usually not even present. As an infectious disease doctor who specializes in pandemic preparedness, I detest using the catch-all "virus" diagnosis for a range of symptoms from common colds to life-threatening pneumonias to unexplained fevers. Failing to establish a specific microbial cause undermines the health of individual patients—and potentially the public at large.
Confirming a specific diagnosis to determine which virus is behind those nasty symptoms is not just an academic exercise. The benefits are plentiful. Patients can forego antibiotic treatment, possibly benefit from antiviral treatment, understand their illness, and be given a prognosis. Additionally, if hospitalized, patients with certain viral infections require specific types of precautions so as not to spread the virus within the hospital.
Another largely undervalued benefit of such an approach is that it allows experts to begin assembling an arsenal of tools that might stave off a global health catastrophe. With severe pandemics, such as the 1918 influenza pandemic that killed 50 to 100 million people, it can be challenging to predict which of the myriad microbial species (bacteria, viruses, fungi, parasites, prions) will be the most likely cause. Many different approaches to prediction exist, but there is a general lack of rigorous analysis about what it takes for any microorganism to reach the pantheon of pandemic pathogens. My colleagues and I at the Johns Hopkins Center for Health Security recently developed a new framework to understand the characteristics of pandemic pathogens.
One of our major conclusions is that the most likely pandemic pathogen will be viral and spread through respiratory means. Viruses rise to the top of the list because, when compared to other types of infectious agents, they have several features that confer pandemic potential: they mutate a lot, the speed of infection is rapid, and there are no broad-spectrum antivirals akin to broad-spectrum antibacterial agents. Contagion through breathing, coughing, and sneezing is likely because it is much more difficult for standard public health measures to extinguish respiratory spread agents compared to other routes of transmission like food, body fluids, or mosquitoes.
With this information, physicians and scientists can begin taking actions to prevent spread of the infection by developing vaccines, testing antiviral compounds, and making diagnostic tests for concerning viruses.
Many of the viral families that could pose a pandemic threat are very common causes of upper respiratory infections like influenza, the common cold, and bronchitis. These viruses cause a wide range of illnesses from mild coughs to serious pneumonias. Indeed, the 2009 H1N1 influenza pandemic virus was discovered in San Diego in a child with very mild illness in whom viral diagnostic testing was pursued. This event highlights the fact that such diseases are not only found in exotic locations in the developing world, but could appear anywhere.
Understanding the patterns of respiratory virus infections -- how frequent they are, which strains are predominating, changes in severity of disease, expanding geographic range -- may provide a glimpse into the first forays of a new human virus or an alert to changing behavior from a well-known virus. With this information, physicians and scientists can begin taking actions to prevent spread of the infection by developing vaccines, testing antiviral compounds, and making diagnostic tests for concerning viruses. Additionally, alerts to healthcare providers will provide greater situational awareness of the patterns of infection.
So, the next time you are given a wastebasket diagnosis of "viral syndrome," push your doctor a little harder. In 2018, we have countless diagnostic tests for viral infections available, many at the point-of-care, that too few physicians use. Not only will you be more satisfied with a real diagnosis, you may be spared an unnecessary course of antibiotics. You can also rest assured that having a name for your virus will help epidemiologists doing a very important job. While we have not yet technologically achieved the famed Tricorder of Star Trek fame that diagnoses everything with a sweep of the hand, using the tools we do have could be one of the keys to detecting the next pandemic virus early enough to intervene.
Dr. Adalja is focused on emerging infectious disease, pandemic preparedness, and biosecurity. He has served on US government panels tasked with developing guidelines for the treatment of plague, botulism, and anthrax in mass casualty settings and the system of care for infectious disease emergencies, and as an external advisor to the New York City Health and Hospital Emergency Management Highly Infectious Disease training program, as well as on a FEMA working group on nuclear disaster recovery. Dr. Adalja is an Associate Editor of the journal Health Security. He was a coeditor of the volume Global Catastrophic Biological Risks, a contributing author for the Handbook of Bioterrorism and Disaster Medicine, the Emergency Medicine CorePendium, Clinical Microbiology Made Ridiculously Simple, UpToDate's section on biological terrorism, and a NATO volume on bioterrorism. He has also published in such journals as the New England Journal of Medicine, the Journal of Infectious Diseases, Clinical Infectious Diseases, Emerging Infectious Diseases, and the Annals of Emergency Medicine. He is a board-certified physician in internal medicine, emergency medicine, infectious diseases, and critical care medicine. Follow him on Twitter: @AmeshAA