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."
Why you should (virtually) care
As the pandemic turns endemic, healthcare providers have been eagerly urging patients to return to their offices to enjoy the benefits of in-person care.
But wait.
The last two years have forced all sorts of organizations to be nimble, adaptable and creative in how they work, and this includes healthcare providers’ efforts to maintain continuity of care under the most challenging of conditions. So before we go back to “business as usual,” don’t we owe it to those providers and ourselves to admit that business as usual did not work for most of the people the industry exists to help? If we’re going to embrace yet another period of change – periods that don’t happen often in our complex industry – shouldn’t we first stop and ask ourselves what we’re trying to achieve?
Certainly, COVID has shown that telehealth can be an invaluable tool, particularly for patients in rural and underserved communities that lack access to specialty care. It’s also become clear that many – though not all – healthcare encounters can be effectively conducted from afar. That said, the telehealth tactics that filled the gap during the pandemic were largely stitched together substitutes for existing visit-based workflows: with offices closed, patients scheduled video visits for help managing the side effects of their blood pressure medications or to see their endocrinologist for a quarterly check-in. Anyone whose children slogged through the last year or two of remote learning can tell you that simply virtualizing existing processes doesn’t necessarily improve the experience or the outcomes!
But what if our approach to post-pandemic healthcare came from a patient-driven perspective? We have a fleeting opportunity to advance a care model centered on convenient and equitable access that first prioritizes good outcomes, then selects approaches to care – and locations – tailored to each patient. Using the example of education, imagine how effective it would be if each student, regardless of their school district and aptitude, received such individualized attention.
That’s the idea behind virtual-first care (V1C), a new care model centered on convenient, customized, high-quality care that integrates a full suite of services tailored directly to patients’ clinical needs and preferences. This package includes asynchronous communication such as texting; video and other live virtual modes; and in-person options.
V1C goes beyond what you might think of as standard “telehealth” by using evidence-based protocols and tools that include traditional and digital therapeutics and testing, personalized care plans, dynamic patient monitoring, and team-based approaches to care. This could include spit kits mailed for laboratory tests and complementing clinical care with health coaching. V1C also replaces some in-person exams with ongoing monitoring, using sensors for more ‘whole person’ care.
Amidst all this momentum, we have the opportunity to rethink the goals of healthcare innovation, but that means bringing together key stakeholders to demonstrate that sustainable V1C can redefine healthcare.
Established V1C healthcare providers such as Omada, Headspace, and Heartbeat Health, as well as emerging market entrants like Oshi, Visana, and Wellinks, work with a variety of patients who have complicated long-term conditions such as diabetes, heart failure, gastrointestinal illness, endometriosis, and COPD. V1C is comprehensive in ways that are lacking in digital health and its other predecessors: it has the potential to integrate multiple data streams, incorporate more frequent touches and check-ins over time, and manage a much wider range of chronic health conditions, improving lives and reducing disease burden now and in the future.
Recognizing the pandemic-driven interest in virtual care, significant energy and resources are already flowing fast toward V1C. Some of the world’s largest innovators jumped into V1C early on: Verily, Alphabet’s Life Sciences Company, launched Onduo in 2016 to disrupt the diabetes healthcare market, and is now well positioned to scale its solutions. Major insurers like Aetna and United now offer virtual-first plans to members, responding as organizations expand virtual options for employees. Amidst all this momentum, we have the opportunity to rethink the goals of healthcare innovation, but that means bringing together key stakeholders to demonstrate that sustainable V1C can redefine healthcare.
That was the immediate impetus for IMPACT, a consortium of V1C companies, investors, payers and patients founded last year to ensure access to high-quality, evidence-based V1C. Developed by our team at the Digital Medicine Society (DiMe) in collaboration with the American Telemedicine Association (ATA), IMPACT has begun to explore key issues that include giving patients more integrated experiences when accessing both virtual and brick-and-mortar care.
Digital Medicine Society
V1C is not, nor should it be, virtual-only care. In this new era of hybrid healthcare, success will be defined by how well providers help patients navigate the transitions. How do we smoothly hand a patient off from an onsite primary care physician to, say, a virtual cardiologist? How do we get information from a brick-and-mortar to a digital portal? How do you manage dataflow while still staying HIPAA compliant? There are many complex regulatory implications for these new models, as well as an evolving landscape in terms of privacy, security and interoperability. It will be no small task for groups like IMPACT to determine the best path forward.
None of these factors matter unless the industry can recruit and retain clinicians. Our field is facing an unprecedented workforce crisis. Traditional healthcare is making clinicians miserable, and COVID has only accelerated the trend of overworked, disenchanted healthcare workers leaving in droves. Clinicians want more interactions with patients, and fewer with computer screens – call it “More face time, less FaceTime.” No new model will succeed unless the industry can more efficiently deploy its talent – arguably its most scarce and precious resource. V1C can help with alleviating the increasing burden and frustration borne by individual physicians in today’s status quo.
In healthcare, new technological approaches inevitably provoke no shortage of skepticism. Past lessons from Silicon Valley-driven fixes have led to understandable cynicism. But V1C is a different breed of animal. By building healthcare around the patient, not the clinic, V1C can make healthcare work better for patients, payers and providers. We’re at a fork in the road: we can revert back to a broken sick-care system, or dig in and do the hard work of figuring out how this future-forward healthcare system gets financed, organized and executed. As a field, we must find the courage and summon the energy to embrace this moment, and make it a moment of change.
Podcast: The future of brain health with Percy Griffin
Today's guest is Percy Griffin, director of scientific engagement for the Alzheimer’s Association, a nonprofit that’s focused on speeding up research, finding better ways to detect Alzheimer’s earlier and other approaches for reducing risk. Percy has a doctorate in molecular cell biology from Washington University, he’s led important research on Alzheimer’s, and you can find the link to his full bio in the show notes, below.
Our topic for this conversation is the present and future of the fight against dementia. Billions of dollars have been spent by the National Institutes of Health and biotechs to research new treatments for Alzheimer's and other forms of dementia, but so far there's been little to show for it. Last year, Aduhelm became the first drug to be approved by the FDA for Alzheimer’s in 20 years, but it's received a raft of bad publicity, with red flags about its effectiveness, side effects and cost.
Meanwhile, 6.5 million Americans have Alzheimer's, and this number could increase to 13 million in 2050. Listen to this conversation if you’re concerned about your own brain health, that of family members getting older, or if you’re just concerned about the future of this country with experts predicting the number people over 65 will increase dramatically in the very near future.
Listen to the Episode
Listen on Apple | Listen on Spotify | Listen on Stitcher | Listen on Amazon | Listen on Google
4:40 - We talk about the parts of Percy’s life that led to him to concentrate on working in this important area.
6:20 - He defines Alzheimer's and dementia, and discusses the key elements of communicating science.
10:20 - Percy explains why the Alzheimer’s Association has been supportive of Aduhelm, even as others have been critical.
17:58 - We talk about therapeutics under development, which ones to be excited about, and how they could be tailored to a person's own biology.
24:25 - Percy discusses funding and tradeoffs between investing more money into Alzheimer’s research compared to other intractable diseases like cancer, and new opportunities to accelerate progress, such as ARPA-H, President Biden’s proposed agency to speed up health breakthroughs.
27:24 - We talk about the social determinants of brain health. What are the pros/cons of continuing to spend massive sums of money to develop new drugs like Aduhelm versus refocusing on expanding policies to address social determinants - like better education, nutritious food and safe drinking water - that have enabled some groups more than others to enjoy improved cognition late in life.
34:18 - Percy describes his top lifestyle recommendations for protecting your mind.
37:33 - Is napping bad for the brain?
39:39 - Circadian rhythm and Alzheimer's.
42:34 - What tests can people take to check their brain health today, and which biomarkers are we making progress on?
47:25 - Percy highlights important programs run by the Alzheimer’s Association to support advances.
Show links:
** After this episode was recorded, the Centers for Medicare and Medicaid Services affirmed its decision from last June to limit coverage of Aduhelm. More here.
- Percy Griffin's bio: https://www.alz.org/manh/events/alztalks/upcoming-...
- The Alzheimer's Association's Part the Cloud program: https://alz.org/partthecloud/about-us.asp
- The paradox of dementia rates decreasing: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455342/
- The argument for focusing more resources on improving institutions and social processes for brain health: https://www.statnews.com/2021/09/23/the-brain-heal...
- Recent research on napping: https://www.ocregister.com/2022/03/25/alzheimers-s...
- The Alzheimer's Association helpline: https://www.alz.org/help-support/resources/helpline
- ALZConnected, a free online community for people affected by dementia https://www.alzconnected.org/
- TrialMatch for people with dementia and healthy volunteers to find clinical trials for Alzheimer's and other dementia: https://www.alz.org/alzheimers-dementia/research_p...