We do know this: Very little about autism is straightforward.
The numbers of those touched by the developmental disorder seem to be snowballing, but how much can be attributed to the fact that we're looking harder, or is there truly an epidemic at hand?
According to figures from the Centers for Disease Control and Prevention, one in 88 children in 2008 was identified as being on the autism spectrum. That's up from one in 110 just two years earlier and one in 150 in 2002.
Boys are four times more likely to have autism than girls, yet why that is remains the million-dollar question. Some with autism do not speak, but the disorder varies greatly from person to person, with no two cases quite alike. Perhaps most importantly, we don't know how or when autism manifests, though it appears to develop earlier than previously thought and generally emerges before the age of 3.
Even testing remains largely subjective and cumbersome, requiring multiple trained people and examinations—the questioning of parents and direct observations of the suspected individual—to draw a diagnosis. You can't scan for autism, biopsy it, or have it show up in a blood test or genetic screening—yet. But we know autism is there, a disorder typically characterized, in varying degrees, by difficulties in social interaction and verbal and nonverbal communication, and by repetitive behaviors.
Through the pioneering work of scientists at the Johns Hopkins Bloomberg School of Public Health, a handful of others scattered throughout the university, and colleagues at the nearby Kennedy Krieger Institute, Johns Hopkins has a leg up in solving autism's many riddles, and health and societal consequences. Now the university has a single place to unite that expertise: the newly created Wendy Klag Center for Autism and Developmental Disabilities.
The center, housed in the Bloomberg School, will seek to foster a conversation on developmental disabilities in general and build a community of investigators and graduate students with a common purpose.
M. Daniele Fallin, the center's director and chair of the Bloomberg School's Department of Mental Health, says that the WKC has the potential to become a national model and a hub of autism study worldwide.
"We already have world-class early detection and treatment research going on here through the Kennedy Krieger Institute and the School of Medicine. We also have world-class research in autism epidemiology going on here, and a school of public health that is the best of its kind," Fallin says. "There is no reason we shouldn't be able to make that sort of national and international impact on research if we put together that broad autism expertise with all these foundational things that already exist."
Specifically, the Wendy Klag Center unifies and expands current research and education efforts at the Bloomberg School, including the Wendy Klag Scholars Program and the Center for Autism and Developmental Disabilities Epidemiology, or CADDE, which the Klag Center is replacing.
Compared to CADDE, the WKC will encompass a broader array of research and educational goals across the fields of public health, including not only epidemiology but also health services research, developmental research, policy research, population and family dynamics, and beyond.
Fallin says the CADDE, one of six such centers funded by the CDC, had dutifully fulfilled its mission, notably launching the Maryland sites of the Autism and Developmental Disabilities Monitoring Network, which aims to monitor the number of cases of autism and other developmental disabilities throughout the country, and the Study to Explore Early Development, or SEED, which looks to find the causes of autism that may be related to genetic and environmental risk factors.
The time had come, Fallin says, to spread a wider net around autism.
The center is named for Bloomberg School Dean Michael Klag's late wife. Wendy Klag, who died in 2006, was a devoted mother of three and a staunch advocate for the developmentally disabled. The Klags' youngest daughter, Sarah, was diagnosed with autism at age 5.
The Wendy Klag Memorial Fund will seed the early work of the center, which has a mission to promote research into the origins, detection, measurement, and prevention of conditions that affect behavioral, socioemotional, and/or cognitive development, and evaluation of services and policies that support optimal development of affected children and their families.
Dean Klag says the concept for the center had been gestating a while, but he felt the time wasn't quite right, until now. In the spring 2012 edition of Johns Hopkins Public Health magazine, Klag wrote an essay about Sarah, describing the emotional toll on the couple and how this private challenge has served as motivation to support research into autism and developmental disabilities.
"There's just this tidal wave of kids who are being diagnosed with the disorder, and a growing population of older people on the spectrum we have to care for. We need to think not only about detection and a possible cure but about building a system to allow those we've identified to be as productive as possible," Klag says. "And then there are policy issues to be considered, biological issues we know very little about. My hope is that this new center will serve a convening function for the work being done on all our campuses related to autism and developmental disorders."
One likely center partner could be the Johns Hopkins Brain Science Institute, which brings together basic and clinical neuroscientists. The BSi recently held working groups in autism that involved more than 70 people from across the university and lasted six months. Richard Huganir, co-director of the BSi and a professor and director of the Department of Neuroscience in the School of Medicine, says that many collaborations grew out of these meetings and that he sees the Wendy Klag Center as a way to further multidisciplinary efforts, such as the work with which he's been involved studying a set of genes that have shown up mutated in children with autism.
The center early on will certainly rely on the work of researchers such as the School of Medicine's Rebecca Landa, the founder and director of the Center for Autism and Related Disorders, known as CARD, and the REACH research program at the Kennedy Krieger Institute.
Landa, a professor of psychiatry, has focused her research on neuropsychological, learning, and communication processes in autism across the life span. She developed and defined the evidence base for the Early Achievements intervention for toddlers with autism spectrum disorders, and pioneered research aimed at identifying the earliest signs of autism through the study of infant siblings of children with autism.
Landa says that two of the center's chief initiatives will be to enable more students to conduct research in the areas of autism through grant funding, and to infuse autism studies into the curriculum at the School of Public Health.
"We have the opportunity to groom the next generation of autism researchers right here, people who will go on to do very important things," she says.
Landa says these students will enter a field still in its infancy. While the cause is unknown, researchers do know that autism involves an abnormality in neural connectivity, but what parts of the brain are impacted, and what is the trigger?
"There have been studies on identical twins where one child is on the autism spectrum and the other is not," Landa says. "Are there environmental factors modifying protective genes? We're not sure. There is much that these types of studies can tell us, and we're just scratching the surface."
Landa's current research focuses on learning processes in autism, as well as early detection of and intervention for autism spectrum disorders.
Early interventions, in the first 18 months of life, can be very productive as you can capitalize on the brain's neural plasticity, she says. Kids can be taught to respond appropriately to social cues, like a handshake or a gesture to "come here," that would otherwise go unnoticed.
"As children learn to tune into, understand, and produce communication signals, there are more opportunities for them to make friends or learn more about the world around them," she says. "Neural plasticity gives us so much hope. Kids change, for the better. We've seen it. These brains are malleable, and in spite of the neurobiological causes and environment, we can develop workarounds in many cases. We've had children come to us who used no words, don't even respond to their name, and others who can barely sit in place for any length of time. But even for many of these children, there is hope."
Gary Goldstein, president and CEO of Kennedy Krieger Institute and a professor of neurology and pediatrics at the School of Medicine, says that part of autism's mystery lies in its ability to hide from traditional diagnostics and screenings.
"A stroke, a brain tumor, Parkinson's, Alzheimer's, and other diseases have a pathology you can see," says Goldstein, who is also a professor of environmental health sciences at the Bloomberg School. "In autism, there appears to be subtle neural connection issues at play. An MRI scan will read normal, or maybe you'll need 100 separate images to see any substantial differences."
Finding new ways to observe and test for the condition, he says, will certainly be a focus of the new center.
Goldstein says he's optimistic that a center like this can have a profound impact on what is a worldwide issue.
When Goldstein first arrived at Johns Hopkins in the 1990s, autism was viewed as a rare disease and received comparatively scant attention from the scientific community. But when the prevalence numbers came out in 2000, heads began to turn.
In just the past five years, Goldstein says, a number of significant studies have been conducted, and funding for investigation has steadily climbed.
"We're nowhere near the funding that, say, cancer can attract, but it's been an incredibly dramatic shift," he says. "We're on the right track. Recognition has changed dramatically. We now know from controlled clinical trials that early interventions can change the trajectory for a child and make an enormous difference, and we've been on the forefront of that."
Goldstein says that much more is now known about how the health of an individual with autism is impacted. Common medical conditions associated with the disorder may include allergies, epilepsy, digestive disorders, sleeping disorders, and more. Autism itself does not affect life expectancy; however, research has shown that the mortality risk among individuals with autism is twice as high as among the general population, attributed in large part to drowning and other accidents from what is known as "wandering," as the individual doesn't realize the risk of an open body of water or approaching traffic.
"Wandering is a big issue, and there are people looking into how we can mitigate that," he says.
Fallin says there is no shortage of areas to look into, whether it's diagnosis, treatment, therapies, or the impact of autism on families and other children.
And the more people involved, the better.
On Oct. 15, the center hosted its inaugural symposium as an official launch and to bring together some of the leading voices and experts in the field of autism and developmental disabilities. The event, which was well-attended and deemed a great success, demonstrated the wealth of autism expertise already at Johns Hopkins, and the promise of future study.
Fallin says the center hopes to lure new voices to the field.
"We plan to recruit more faculty in the next few years, and we hope to sponsor an annual symposium on autism and developmental disabilities if we can, although we'll certainly embed with other centers and divisions to offer smaller-scale events and seminar series," she says. "Right now, it's about community building, and we're off to a good start."
