Chapter One: Opening the Doors to ANDI

Steve Goldstein

As one of the world’s pre-eminent autism researchers, Kevin Pelphrey, PhD, has built a reputation that can open the doors to virtually any medical research institution — and the institution would consider itself fortunate to have him. But Pelphrey chose The George Washington University (GW).

puzzle pieces

Why? Because his ambitions as director of the new Autism and Neurodevelopmental Disorders Institute (ANDI) extend beyond investigation, to influence.

“We’re interested in influencing policy decisions,” says Pelphrey, citing one of the three chief priorities of the institute, which embraces research and clinical care and will be housed primarily in a state-of-the-art clinical center at GW’s Virginia Science and Technology Campus in Ashburn. In addition to his role as director, Pelphrey, a boyish-looking 43-year-old, is the inaugural Carbonell Family Professor in Autism and Neurodevelopmental Disorders, and professor of pharmacology and physiology at the GW School of Medicine and Health Sciences. Through ANDI, Pelphrey is creating a one-stop resource for families affected by autism in the Washington, D.C., area and beyond by connecting faculty members at six GW colleges with clinical partners GW Hospital, Children’s National Health System, and the GW Medical Faculty Associates.

As part of the network, Pelphrey will be joined by Ashley Darcy-Mahoney, PhD, assistant professor of nursing at the GW School of Nursing and a neonatal nurse practitioner, who will serve as ANDI’s director of infant research. “She was a terrific hire that I didn’t have to do,” says Pelphrey, who celebrated his first anniversary at GW on April 1.

A Firm Foundation

ANDI received $12 million in initial funding for research. Pelphrey cites the recruitment efforts of GW Vice President for Research Leo Chalupa, PhD, as very persuasive, and is also grateful for the commitment of GW Board of Trustees Chair Nelson Carbonell, BS ’85, who gave $2.5 million to establish the endowed professorship Pelphrey holds. Carbonell’s son, Dylan, was diagnosed with autism as a 2-year-old.

Autism is relatively common, affecting an estimated one in every 68 children in the United States, yet it is widely misunderstood. So broad are its manifestations that it is described as a “spectrum” disorder. Autism may be experienced as the gaze unmet, the outstretched hand unshaken, the conversation turned riddle. The disorder is a mental prison of sorts, in which the “inmate” has difficulty communicating and forming relationships with other people and in using language and abstract concepts.

If parents have concerns about their child’s development and they start thinking about a place to go, Pelphrey wants them to think of GW and ANDI.

Close Ties and Choice Connections

Pelphrey has two major priorities for the institute. The first, he explains, is building a comprehensive clinical and research infrastructure. If parents have concerns about their child’s development and they start thinking about a place to go, Pelphrey wants them to think of GW and ANDI. “We need to be able to comprehensively evaluate the patient, provide advice and discuss possible neurodevelopmental treatments, and have the research that will explain the kinds of therapies that will work, and ones that may not,” he says.

The second priority is for the institute to serve as a national model for treatment in post-adolescence. Therapies for autism spectrum disorder cannot be narrowly focused on children from infancy to 3 years old. The adult transition, especially during the teenage years, is also an important period in brain development. “The brain is reorganizing,” says Pelphrey, and it presents opportunities to intervene. He adds that there’s “a wave of young adults with autism coming in the next 10 years.”

Pelphrey has been studying brain development for 16 years, beginning as a postdoctoral researcher at Duke University. Practical considerations — “it was hard to build academic tenure,” he notes — caused him to jump off that track for a while. Personal issues drove him back, intensively. “My daughter, Frances, was diagnosed with autism when she was a little over 3 years old,” he explains. “We noticed general developmental delays and a slowness in developing language. But she was very social with people and that delayed the diagnosis for a bit.”

Frances, now 13, provided passion and a new focus for Pelphrey. “This delay in diagnosing girls compared with boys got me very interested in studying girls with autism,” he says. Why are girls such as Frances underdiagnosed? According to Pelphrey, boys are more susceptible to neurodevelopmental disorders than girls. Moreover, there’s a kind of “masking” related to girls in that they tend to appear more social than boys. “Thus you have a significant number of girls with problems, but they are not rising to the diagnosis level to get the attention they need,” he says. Pelphrey is the leader of an NIH-funded, $15-million multi-site project to study a large sample of girls with autism with a focus on genes, brain function, and behavior throughout childhood and adolescence.

Darcy-Mahoney’s work addresses another under-researched subject: the connection between autism and prematurity, and particularly how this is represented among African Americans, who have a much higher rate of preterm babies. “African American children with autism are significantly under-represented and significantly underdiagnosed — and probably diagnosed in a less timely fashion,” she says. Darcy-Mahoney, who arrived from Emory University in July, says the School of Nursing also has an Ashburn campus, “so we hope to cross-train in the area of neurodevelopmental pediatrics.”

Broader Perspectives

When Pelphrey first entered the field in 2001, autism was viewed very narrowly and “virtually nothing had been done on sex differences.” He began exploring the theory that it was a disorder of early brain development that changes over time. Now, studies have concluded that autism “is a disorder of mid-fetal brain development that begins in utero,” Pelphrey explains. Additionally, research has revealed reliable brain “signatures” of the disorder, which allows it to be traced over time. “This has gotten much more complicated than we ever dreamed of,” he adds, “and we’re talking about a whole collection of disorders.”

ANDI will also provide cutting-edge advice on treatments, including behavioral interventions and pharmacological therapies. Pelphrey says the institute will explore why behavioral interventions are unsuccessful with some children and will employ drug interventions to increase responsiveness to behavioral therapies. Cognitive behavioral therapy will be studied as a method of treatment for older children and teenagers, who sometimes exhibit aggressiveness and social anxiety.

Pelphrey’s familiarity with the Washington, D.C., region — his wife’s family owns an oyster farm in Virginia Beach, Virginia — helped convince him that ANDI could have a wider impact. “We will be able to get attention through direct contact with policy-makers,” says Pelphrey, who is on the federal Interagency Autism Coordinating Committee. “That prospect is very exciting.”

puzzle pieces

“Chapter One: Opening the Doors to ANDI” is the first of several installments of “Observation: On Autism,” highlighting the expanding emphasis on autism research at the George Washington University (GW) School of Medicine and Health Sciences and the university’s Autism and Neurodevelopmental Disorders Institute (ANDI). This series focuses on impact this neurodevelopmental disorder has had on many of GW’s researchers, clinicians, and leaders, as well as the work they are pursuing to better understand the disorder and care for the patients and families living with autism.
“Observations” is a new online, long-form nonfiction series covering SMHS areas of academic excellence.