For children with autism, early diagnosis is crucial — it can make the difference between a child who can control his or her behavior and one who can't — but at health systems around the country, children may have to wait two years or longer to meet with developmental medicine specialists. Through a partnership with Bucknell, Geisinger Health System has reduced its wait time from more than two years to less than three months, and its wait list from 1,100 to zero.
The fruition of a long-standing dream of Bucknell Professor David Evans, psychology, and Geisinger neurodevelopmental pediatricians Tom Challman and Scott Myers, the Geisinger–Bucknell Autism & Developmental Medicine Center represents an exponential expansion (from three to 35 staff members) in the resources Geisinger commits to diagnosing and treating developmental disorders. Since opening in April 2013, the center in Lewisburg has seen more than 3,000 patients from seven states, and cares for 20 to 30 new patients each week.
But the center, the first effort in a larger Geisinger initiative, aims to do more than improve clinical care. As a translational research clinic that pairs research with treatment, it seeks to probe the genetic causes of autism to identify therapies that work, and to create a model for the treatment of autism nationwide.
The center is probing new causes of developmental disorders in the genetic codes of its patients, and hopes to soon participate in clinical trials for new treatment regimens. Bucknell undergraduates have an unusual opportunity to participate in that research.
"We know of no liberal arts university or college in the country that is coupled like we are with a first-rate medical center," Evans said. "The opportunity for students is absolutely one of a kind."
Steven Lazar '13 has been collaborating with Evans since even before the center opened, and has published two papers on autism based on that work. Now a student at Jefferson Medical College in Philadelphia, Lazar said many of his classmates hold undergraduate and graduate degrees from Ivy League and R-1 research colleges, but few have the clinical immersion and research experience he has.
"I was able, as an undergraduate, to publish work utilizing state-of-the-art neuroimaging technology that many students in doctoral programs at large academic research institutions are unable to use," Lazar said.
Autism is a diverse disorder with a multitude of genetic causes and just as many manifestations.
"There are estimates that around a thousand different genes could cause autism, and we're not going to be able to provide really effective treatments until we understand what those causes are," said center Director and Senior Investigator Christa Martin.
To identify those causes, the center employs a host of cutting-edge genetic tests, some of which would have been prohibitively expensive just a few years ago. Clinicians can now identify a genetic cause in up to 40 percent of the patients they see, and that knowledge alone is enough to set many parents' minds at ease.
"A lot of families carry guilt around and think it's something they caused, when in reality, it's a biological problem the child was born with," Martin said.
The Centers for Disease Control estimates that one in 68 children is born with autism, one in 42 males. While some have posited environmental causes for the disorder, including vaccines and food additives, Evans hasn't seen a shred of evidence to support those claims.
He suggests two factors are behind the spike in autism diagnoses, but neither as insidious as an environmental toxin. The first is simply that parents and their pediatricians know much more about autism.
"What you're seeing is an increased awareness, a vigilance, and a community of people talking about it," Evans explained. "That increase in awareness is going to increase diagnosis."
The other, Evans said, is science.
When Leo Kanner first described autism in 1943, he was working with profound cases: children who couldn't speak, or wore diapers at age 10, or sat rocking in corners. "We've introduced this concept of a spectrum, so now even someone who's a bit socially awkward or has social anxiety — and has a hobby or a collection — they're now considered on the spectrum."
Science is discovering, Evans said, that disorders like autism, ADHD and bipolar disorder do not fit neatly into the boxes psychology has drawn in defining them. They overlap, and a single genetic anomaly like fragile X syndrome can manifest as any of them, as well as schizophrenia, intellectual disability and epilepsy. Like autism, each of those disorders has a spectrum, and all of us fall somewhere within it.
The overlap across these disorders may be perplexing, but it's the reality, Evans said, and it informs the genetics-first, individual approach the Geisinger–Bucknell center takes to developmental medicine.
"We care less about the label, and more about the behaviors that we're trying to address — and looking at the root cause of those behaviors to find the intervention that is going to be the most effective," Evans said.
To seek out those therapies, the center employs cutting edge technology, including a research-grade MRI (twice as powerful as clinical grade) and an advanced electroencephalography (EEG) system. Using these instruments, investigators at the center plan to study the brain's activity, before and after therapy, to learn the impact of various therapies on neural function.
"We can look at actual neural changes that have taken place through the intervention," Evans said. "It's extremely novel to use neuroimaging techniques to monitor treatment."
With every new patient that comes through its doors, the Autism & Developmental Medicine Center will be there to treat, to teach, and to learn.