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.
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 Mind-Blowing Promise of Neural Implants
A patient with an implanted neural device that connects to a prosthetic arm can sense, while blindfolded, which of the mechanical fingers are being touched.
You may not have heard of DARPA, the research branch of the Pentagon. But you're definitely familiar with some of the technology it has pioneered, like the Internet, Siri, and handheld GPS.
"Now we're going to try to go from this proof-of-concept all the way to commercial technologies that can powerfully affect patients' lives."
Last week in National Harbor, Maryland, DARPA celebrated its 60th anniversary by showcasing its latest breakthroughs and emerging research programs, one of which centers around using neurotechnology to enhance the capabilities of the human brain. This technology is initially being developed to help warfighters and veterans, but its success could have enormous implications for civilian patients and, eventually, mainstream consumers.
The field is moving ahead rapidly. Fifteen years ago, a monkey named Aurora used a brain-machine interface to control a cursor on a computer screen. In 2014, DARPA's mind-controlled prosthetic arm for amputees won approval from the Food and Drug Administration.
Since then, DARPA has continued to push neurotechnology to new heights. Here are three of their research programs that are showing promise in early human testing:
1) A NEURAL IMPLANT HELP MANAGE PSYCHIATRIC ILLNESS
More than 2.2 million veterans and 44 million civilians are living with some form of psychiatric illness, and medications don't work for everyone. DARPA set out to create new options for people living with debilitating anxiety, depression, and PTSD.
"We can get somebody back to normal. It's a whole new set of tools for physicians," said Justin Sanchez, Director of the Biological Technologies Office at DARPA.
He told the audience about a woman living with both epilepsy and extreme anxiety, who has a direct neural interface that reads her brain's signals in real time and can be modulated with stimulation. He shared a recent video of her testing the device:
"Now we're going to try to go from this proof-of-concept all the way to commercial technologies that can powerfully affect patients' lives," Sanchez said.
2) A NEURAL IMPLANT TO HELP IMPROVE MEMORY
"We are right at the cusp" of improving memory recall with direct neural interfaces, Sanchez said.
All day long, our brains shift between poor and good memory states. A brain-computer interface can read the signals of populations of neurons in the lateral temporal cortex. The device continuously monitors the state of the brain and delivers stimulation within a fraction of a second after detecting a poor memory state, to improve the person's memory performance.
The improved memory lasts only seconds, so the system "delivers stimulation as needed in a closed loop to keep the performance in a good state, because of this natural variability of performance," said Dan Rizzuto, founder of NiaTherapeutics, whose technology was developed with support from DARPA and the United States BRAIN Initiative.
Check out this recently shot video of a patient testing the device, which Sanchez called "a breakthrough moment":
About 400 patients have been tested with this technology so far. In a pilot study whose data have not yet been published, patients with traumatic brain injury showed improvement in recall of around 28 percent, according to Rizzuto.
He estimates that potential FDA approval of the device for patients with traumatic brain injury is still 7 to 8 years away. The technology holds the potential to help many other kinds of patients as well.
"We believe this device could also be used to treat Alzheimer's because it's not specific to any brain pathology but based on a deep understanding of the way human memory works," Rizzuto said.
3) A NEURAL IMPLANT TO REVOLUTIONIZE PROSTHETICS FOR WARFIGHTERS AND VETERANS
Since 2006, DARPA has run a program to revolutionize prosthetics. The latest advances allow amputees to actually feel again with their bionic limbs.
Sensors in a prosthetic hand relay information to an interface in the brain that allows the person to detect which of their "fingers" are being touched, while their eyes are closed:
WHAT COMES NEXT?
DARPA is now turning its attention to non-surgical, non-invasive neurotechnology. Researchers hope to use advanced sensor technology to detect signals from neurons without putting any electrodes directly inside the brain. Under the direction of program manager Dr. Al Emondi, the N³ program is about to launch soon and plans to run for four or five years.
"We haven't even scratched the surface of what a human brain's capability is," said Dr. Geoffrey Ling, the Founding Director of the Biological Technologies Office. "When we can make this a non-invasive consumer technology, this will explode. It will take on a life of its own."
Then, inevitably, the hard questions will follow.
As Sanchez put it: "Will society consider some form of neural enhancement a personal choice like braces? Could there be a disturbing gap for people who have neurotech and those who don't? We must come together and all think over the horizon. How the story unfolds ultimately depends on all of us."
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.
Prostate Cancer Treatments Are Racing Ahead. Here’s a Big Reason Why.
Dr. Stacy Loeb (left) and Dr. Heather Cheng were both recipients of a special early-career grant from the Prostate Cancer Foundation for young researchers.
In his lab at UCLA, Dr. Charles Sawyer discovered two drugs for metastatic prostate cancer that are now in routine use all over the world.
At the University of Washington at Seattle, Dr. Heather Cheng was part of a team that discovered the connection between BRCA2 mutations and advanced prostate cancer, and she recently opened a prostate cancer genetics clinic – a new frontier in the field.
At UT Southwestern Medical Center in Dallas, Dr. Nima Sharifi's pioneering research showed why certain drugs don't work in castrate-resistant prostate cancer, and now new therapies are being developed instead.
"We have good reason to believe that investing in young scientists is the way to go."
What Do These Researchers Share in Common?
They were all under 40 when they received a special grant for early-career scientists from the Prostate Cancer Foundation, the leading philanthropic organization that funds prostate cancer research. Experts say that the foundation's dedicated support for young innovators has been a game changer in contributing to the discovery of newer and better therapies for prostate cancer patients.
Howard Soule, the foundation's Executive Vice President and Chief Science Officer, was aware that many of the people who leave behind major legacies in science typically make their discoveries before age 40, like Albert Einstein, who was in his thirties when he published his paper on general relativity.
So back in 2007, the PCF decided to ramp up its support for young researchers.
"We have good reason to believe that investing in young scientists is the way to go, so we've created a program at PCF that is I believe is unique in the field," says Soule.
The Young Investigator Awards Program rigorously screens a pool of roughly 150 applicants for 20 to 25 awards that consist of funding for three years – and that's just the start.
"It's much more than sending them money," says Soule. "We celebrate them at annual meetings, we have a networking center with no equal in the field, and throughout the years of their three-year-award and basically forever, we create community. We are a safe place for them to land, they share data with us that's unpublished, and we provide a lot of feedback and stewardship to their donors."
Spotlighting Recipients: From the Study of Tumors to Twitter
Heather Cheng was in her thirties when she received her award three years ago. "It's been very, very helpful in allowing me to do the type of work I am really excited about doing," she says.
At the time, she had recently joined the faculty at the University of Washington after completing an MD/PhD medical scientist training program, internal medicine residency and hematology/oncology fellowship, and she was considering what new direction to take in her research. Several patients captured her imagination who were diagnosed at a very young age with metastatic prostate cancer, and "even though we had cool new drugs to extend life, these particular patients' cancers blew through everything."
"This is a new intersection because genetics has not been discussed in the context of care for men with prostate cancer that much."
She decided to make a niche out of understanding the connection between often early-onset aggressive prostate cancer and familial genetic risk, in order to improve treatment options for these patients. In 2016, Cheng launched a new clinic and invited any men to visit who have a family history of cancer and who are interested in genetic testing, or who have a known mutation and want to learn about treatment opportunities, or who want to know if their cancer tumor can be inherited.
"It's an open door to have a discussion because the technology and treatment potentials are so new," Cheng says. "There's a lot to learn."
It used to be that a doctor would ask a male patient about his family history, and if a mother had breast cancer at a young age, for example, and several other family members met the criteria for a genetic risk, then perhaps the patient had inherited a mutation in a cancer risk gene. But what to do next was unclear.
Now, doctors are taking men with a diagnosis of prostate cancer, sequencing their inherited DNA or their tumors, and finding out if they have mutations that could guide their treatment plan. For example, medications called PARP inhibitors have shown encouraging early results for men with a BRCA2 gene mutation and are now in clinical trials for treating prostate cancer.
"This is a new intersection because genetics has not been discussed in the context of care for men with prostate cancer that much," Cheng says. "This has changed practice because changes to national cancer guidelines have happened in less than five years. The change has happened so quickly that the field is not completely prepared for implementation and clinical logistics."
Another young investigator, New York University urologist and prostate cancer researcher Stacy Loeb, received her award at age 36 two years ago. She realized that no one had scientifically studied how patients are using crowdsourcing platforms like GoFundMe and YouCaring to raise money for their treatments. In her research, she found that there are many more campaigns for breast cancer and that they are more successful in crowdfunding than the prostate cancer campaigns.
"We have identified some gaps in advocacy and awareness for prostate cancer – fewer people know about it or discuss it, but it is a leading cause of death of U.S. men, so it is important to get more people aware," Loeb notes.
In fact, today the PCF releases data from a survey of more than 2,000 U.S. adults that reveals widespread ignorance about the disease. Two-thirds of respondents, for example, did not know that men with early stage prostate cancer experience no symptoms, and many were unaware that screening begins with a simple blood test.
Besides studying patient behavior, Loeb also wanted to better understand how physicians and scientists are using social media, and how their participation on platforms like Twitter could be fostered to promote greater dissemination of knowledge. So she helped start a monthly prostate cancer journal club on Twitter, hosted through the PCF science account. The club features an important new research paper in the field each month, and she invites the authors of the paper to participate in a 48-hour online discussion.
"The Journal Club is a monthly thing at most institutions," she says, "but typically it's one institution with people from one department. What's better about this is we have people who are doctors, nurses, scientists, patients, stakeholders participating from all over the world."
Why Do Young Innovators Have an Edge?
The environment matters, for one.
"We all bring different life experiences to the table, we grew up in different eras, so we have different norms and tools at our disposal that weren't available," says Loeb, who was one of the early adopters of social media in the urology space. She now gives a lecture at the annual PCF retreat on how to use social media to advance one's scientific career.
"The more you're invested into a system, the less you may be able to recognize its limitations."
But the advantage of youth is not just greater familiarity with the newest tools. It's also the existential benefit of not being entrenched in the way it's always been.
"Often there is a healthy skepticism of what's come before," explains Dr. Joseph La Brie, a clinical psychologist and professor at psychology at Loyola Marymount University. "That's connected to not being wedded to a programmatic view of the problem. There's a freshness and creative outlook because they are looking at it with a new set of eyes, and there's a desire to make their mark on the field, to be unique and innovative and not just follow in somebody else's footsteps."
And as Cheng puts it, "The more you're invested into a system, the less you may be able to recognize its limitations."
But it's notoriously difficult for scientists to get funding for innovative ideas without having already published preliminary data, which is what the National Institutes of Health and other funding bodies like to see. Eliminating that hurdle is a big part of why PCF's approach has been so effective, according to a veteran of the field, Johns Hopkins urologist Dr. Kenneth Pienta; his own groundbreaking research has been supported by PCF since he was a young scientist in the '90s.
"Any granting mechanism that allows people to fund ideas without a lot of preliminary data is a good thing," he declares.
Support for creative young minds is crucial across all endeavors, beyond any single disease or discipline. At a recent conference showcasing emerging technology for DARPA, the research arm of the Defense Department, expert panelists in artificial intelligence were asked: What is the single most important thing to focus on over the next decade?
Robotics pioneer Dr. Rodney Brooks may have put it best: "Figure out how to fund some really radical young mavericks and see what happens."
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.