Why Are Autism Rates Steadily Rising?
Stefania Sterling with her son Charlie, who was diagnosed at age 3 with autism.
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."
Real-Time Monitoring of Your Health Is the Future of Medicine
Implantable sensors and other surveillance technologies offer tremendous health benefits -- and ethical challenges.
The same way that it's harder to lose 100 pounds than it is to not gain 100 pounds, it's easier to stop a disease before it happens than to treat an illness once it's developed.
In Morris' dream scenario "everyone will be implanted with a sensor" ("…the same way most people are vaccinated") and the sensor will alert people to go to the doctor if something is awry.
Bio-engineers working on the next generation of diagnostic tools say today's technology, such as colonoscopies or mammograms, are reactionary; that is, they tell a person they are sick often when it's too late to reverse course. Surveillance medicine — such as implanted sensors — will detect disease at its onset, in real time.
What Is Possible?
Ever since the Human Genome Project — which concluded in 2003 after mapping the DNA sequence of all 30,000 human genes — modern medicine has shifted to "personalized medicine." Also called, "precision health," 21st-century doctors can in some cases assess a person's risk for specific diseases from his or her DNA. The information enables women with a BRCA gene mutation, for example, to undergo more frequent screenings for breast cancer or to pro-actively choose to remove their breasts, as a "just in case" measure.
But your DNA is not always enough to determine your risk of illness. Not all genetic mutations are harmful, for example, and people can get sick without a genetic cause, such as with an infection. Hence the need for a more "real-time" way to monitor health.
Aaron Morris, a postdoctoral researcher in the Department of Biomedical Engineering at the University of Michigan, wants doctors to be able to predict illness with pinpoint accuracy well before symptoms show up. Working in the lab of Dr. Lonnie Shea, the team is building "a tiny diagnostic lab" that can live under a person's skin and monitor for illness, 24/7. Currently being tested in mice, the Michigan team's porous biodegradable implant becomes part of the body as "cells move right in," says Morris, allowing engineered tissue to be biopsied and analyzed for diseases. The information collected by the sensors will enable doctors to predict disease flareups, such as for cancer relapses, so that therapies can begin well before a person comes out of remission. The technology will also measure the effectiveness of those therapies in real time.
In Morris' dream scenario "everyone will be implanted with a sensor" ("…the same way most people are vaccinated") and the sensor will alert people to go to the doctor if something is awry.
While it may be four or five decades before Morris' sensor becomes mainstream, "the age of surveillance medicine is here," says Jamie Metzl, a technology and healthcare futurist who penned Hacking Darwin: Genetic Engineering and the Future of Humanity. "It will get more effective and sophisticated and less obtrusive over time," says Metzl.
Already, Google compiles public health data about disease hotspots by amalgamating individual searches for medical symptoms; pill technology can digitally track when and how much medication a patient takes; and, the Apple watch heart app can predict with 85-percent accuracy if an individual using the wrist device has Atrial Fibrulation (AFib) — a condition that causes stroke, blood clots and heart failure, and goes undiagnosed in 700,000 people each year in the U.S.
"We'll never be able to predict everything," says Metzl. "But we will always be able to predict and prevent more and more; that is the future of healthcare and medicine."
Morris believes that within ten years there will be surveillance tools that can predict if an individual has contracted the flu well before symptoms develop.
At City College of New York, Ryan Williams, assistant professor of biomedical engineering, has built an implantable nano-sensor that works with a florescent wand to scope out if cancer cells are growing at the implant site. "Instead of having the ovary or breast removed, the patient could just have this [surveillance] device that can say 'hey we're monitoring for this' in real-time… [to] measure whether the cancer is maybe coming back,' as opposed to having biopsy tests or undergoing treatments or invasive procedures."
Not all surveillance technologies that are being developed need to be implanted. At Case Western, Colin Drummond, PhD, MBA, a data scientist and assistant department chair of the Department of Biomedical Engineering, is building a "surroundable." He describes it as an Alexa-style surveillance system (he's named her Regina) that will "tell" the user, if a need arises for medication, how much to take and when.
Bioethical Red Flags
"Everyone should be extremely excited about our move toward what I call predictive and preventive health care and health," says Metzl. "We should also be worried about it. Because all of these technologies can be used well and they can [also] be abused." The concerns are many layered:
Discriminatory practices
For years now, bioethicists have expressed concerns about employee-sponsored wellness programs that encourage fitness while also tracking employee health data."Getting access to your health data can change the way your employer thinks about your employability," says Keisha Ray, assistant professor at the University of Texas Health Science Center at Houston (UTHealth). Such access can lead to discriminatory practices against employees that are less fit. "Surveillance medicine only heightens those risks," says Ray.
Who owns the data?
Surveillance medicine may help "democratize healthcare" which could be a good thing, says Anita Ho, an associate professor in bioethics at both the University of California, San Francisco and at the University of British Columbia. It would enable easier access by patients to their health data, delivered to smart phones, for example, rather than waiting for a call from the doctor. But, she also wonders who will own the data collected and if that owner has the right to share it or sell it. "A direct-to-consumer device is where the lines get a little blurry," says Ho. Currently, health data collected by Apple Watch is owned by Apple. "So we have to ask bigger ethical questions in terms of what consent should be required" by users.
Insurance coverage
"Consumers of these products deserve some sort of assurance that using a product that will predict future needs won't in any way jeopardize their ability to access care for those needs," says Hastings Center bioethicist Carolyn Neuhaus. She is urging lawmakers to begin tackling policy issues created by surveillance medicine, now, well ahead of the technology becoming mainstream, not unlike GINA, the Genetic Information Nondiscrimination Act of 2008 -- a federal law designed to prevent discrimination in health insurance on the basis of genetic information.
And, because not all Americans have insurance, Ho wants to know, who's going to pay for this technology and how much will it cost?
Trusting our guts
Some bioethicists are concerned that surveillance technology will reduce individuals to their "risk profiles," leaving health care systems to perceive them as nothing more than a "bundle of health and security risks." And further, in our quest to predict and prevent ailments, Neuhaus wonders if an over-reliance on data could damage the ability of future generations to trust their gut and tune into their own bodies?
It "sounds kind of hippy-dippy and feel-goodie," she admits. But in our culture of medicine where efficiency is highly valued, there's "a tendency to not value and appreciate what one feels inside of their own body … [because] it's easier to look at data than to listen to people's really messy stories of how they 'felt weird' the other day. It takes a lot less time to look at a sheet, to read out what the sensor implanted inside your body or planted around your house says."
Ho, too, worries about lost narratives. "For surveillance medicine to actually work we have to think about how we educate clinicians about the utility of these devices and how to how to interpret the data in the broader context of patients' lives."
Over-diagnosing
While one of the goals of surveillance medicine is to cut down on doctor visits, Ho wonders if the technology will have the opposite effect. "People may be going to the doctor more for things that actually are benign and are really not of concern yet," says Ho. She is also concerned that surveillance tools could make healthcare almost "recreational" and underscores the importance of making sure that the goals of surveillance medicine are met before the technology is unleashed.
"We can't just assume that any of these technologies are inherently technologies of liberation."
AI doesn't fix existing healthcare problems
"Knowing that you're going to have a fall or going to relapse or have a disease isn't all that helpful if you have no access to the follow-up care and you can't afford it and you can't afford the prescription medication that's going to ward off the onset," says Neuhaus. "It may still be worth knowing … but we can't fool ourselves into thinking that this technology is going to reshape medicine in America if we don't pay attention to … the infrastructure that we don't currently have."
Race-based medicine
How surveillances devices are tested before being approved for human use is a major concern for Ho. In recent years, alerts have been raised about the homogeneity of study group participants — too white and too male. Ho wonders if the devices will be able to "accurately predict the disease progression for people whose data has not been used in developing the technology?" COVID-19 has killed Black people at a rate 2.5 time greater than white people, for example, and new, virtual clinical research is focused on recruiting more people of color.
The Biggest Question
"We can't just assume that any of these technologies are inherently technologies of liberation," says Metzl.
Especially because we haven't yet asked the 64-thousand dollar question: Would patients even want to know?
Jenny Ahlstrom is an IT professional who was diagnosed at 43 with multiple myeloma, a blood cancer that typically attacks people in their late 60s and 70s and for which there is no cure. She believes that most people won't want to know about their declining health in real time. People like to live "optimistically in denial most of the time. If they don't have a problem, they don't want to really think they have a problem until they have [it]," especially when there is no cure. "Psychologically? That would be hard to know."
Ahlstrom says there's also the issue of trust, something she experienced first-hand when she launched her non-profit, HealthTree, a crowdsourcing tool to help myeloma patients "find their genetic twin" and learn what therapies may or may not work. "People want to share their story, not their data," says Ahlstrom. "We have been so conditioned as a nation to believe that our medical data is so valuable."
Metzl acknowledges that adoption of new technologies will be uneven. But he also believes that "over time, it will be abundantly clear that it's much, much cheaper to predict and prevent disease than it is to treat disease once it's already emerged."
Beyond cost, the tremendous potential of these technologies to help us live healthier and longer lives is a game-changer, he says, as long as we find ways "to ultimately navigate this terrain and put systems in place ... to minimize any potential harms."
How Smallpox Was Wiped Off the Planet By a Vaccine and Global Cooperation
The world's last recorded case of endemic smallpox was in Ali Maow Maalin, of Merka, Somalia, in October 1977. He made a full recovery.
For 3000 years, civilizations all over the world were brutalized by smallpox, an infectious and deadly virus characterized by fever and a rash of painful, oozing sores.
Doctors had to contend with wars, floods, and language barriers to make their campaign a success.
Smallpox was merciless, killing one third of people it infected and leaving many survivors permanently pockmarked and blind. Although smallpox was more common during the 18th and 19th centuries, it was still a leading cause of death even up until the early 1950s, killing an estimated 50 million people annually.
A Primitive Cure
Sometime during the 10th century, Chinese physicians figured out that exposing people to a tiny bit of smallpox would sometimes result in a milder infection and immunity to the disease afterward (if the person survived). Desperate for a cure, people would huff powders made of smallpox scabs or insert smallpox pus into their skin, all in the hopes of getting immunity without having to get too sick. However, this method – called inoculation – didn't always work. People could still catch the full-blown disease, spread it to others, or even catch another infectious disease like syphilis in the process.
A Breakthrough Treatment
For centuries, inoculation – however imperfect – was the only protection the world had against smallpox. But in the late 18th century, an English physician named Edward Jenner created a more effective method. Jenner discovered that inoculating a person with cowpox – a much milder relative of the smallpox virus – would make that person immune to smallpox as well, but this time without the possibility of actually catching or transmitting smallpox. His breakthrough became the world's first vaccine against a contagious disease. Other researchers, like Louis Pasteur, would use these same principles to make vaccines for global killers like anthrax and rabies. Vaccination was considered a miracle, conferring all of the rewards of having gotten sick (immunity) without the risk of death or blindness.
Scaling the Cure
As vaccination became more widespread, the number of global smallpox deaths began to drop, particularly in Europe and the United States. But even as late as 1967, smallpox was still killing anywhere from 10 to 15 million people in poorer parts of the globe. The World Health Assembly (a decision-making body of the World Health Organization) decided that year to launch the first coordinated effort to eradicate smallpox from the planet completely, aiming for 80 percent vaccine coverage in every country in which the disease was endemic – a total of 33 countries.
But officials knew that eradicating smallpox would be easier said than done. Doctors had to contend with wars, floods, and language barriers to make their campaign a success. The vaccination initiative in Bangladesh proved the most challenging, due to its population density and the prevalence of the disease, writes journalist Laurie Garrett in her book, The Coming Plague.
In one instance, French physician Daniel Tarantola on assignment in Bangladesh confronted a murderous gang that was thought to be spreading smallpox throughout the countryside during their crime sprees. Without police protection, Tarantola confronted the gang and "faced down guns" in order to immunize them, protecting the villagers from repeated outbreaks.
Because not enough vaccines existed to vaccinate everyone in a given country, doctors utilized a strategy called "ring vaccination," which meant locating individual outbreaks and vaccinating all known and possible contacts to stop an outbreak at its source. Fewer than 50 percent of the population in Nigeria received a vaccine, for example, but thanks to ring vaccination, it was eradicated in that country nonetheless. Doctors worked tirelessly for the next eleven years to immunize as many people as possible.
The World Health Organization declared smallpox officially eradicated on May 8, 1980.
A Resounding Success
In November 1975, officials discovered a case of variola major — the more virulent strain of the smallpox virus — in a three-year-old Bangladeshi girl named Rahima Banu. Banu was forcibly quarantined in her family's home with armed guards until the risk of transmission had passed, while officials went door-to-door vaccinating everyone within a five-mile radius. Two years later, the last case of variola major in human history was reported in Somalia. When no new community-acquired cases appeared after that, the World Health Organization declared smallpox officially eradicated on May 8, 1980.
Because of smallpox, we now know it's possible to completely eliminate a disease. But is it likely to happen again with other diseases, like COVID-19? Some scientists aren't so sure. As dangerous as smallpox was, it had a few characteristics that made eradication possibly easier than for other diseases. Smallpox, for instance, has no animal reservoir, meaning that it could not circulate in animals and resurge in a human population at a later date. Additionally, a person who had smallpox once was guaranteed immunity from the disease thereafter — which is not the case for COVID-19.
In The Coming Plague, Japanese physician Isao Arita, who led the WHO's Smallpox Eradication Unit, admitted to routinely defying orders from the WHO, mobilizing to parts of the world without official approval and sometimes even vaccinating people against their will. "If we hadn't broken every single WHO rule many times over, we would have never defeated smallpox," Arita said. "Never."
Still, thanks to the life-saving technology of vaccines – and the tireless efforts of doctors and scientists across the globe – a once-lethal disease is now a thing of the past.