Clinic without walls
"We want to develop affordable and accessible interventions for all families who need them – whether or not they can come to us directly. I envision a clinic without walls."
When Leonard Abbeduto looks at the beautiful sandstone building that houses the UC Davis MIND Institute, its director thinks not only of the enormous amount of research and patient care aimed at children with neurodevelopmental disorders and their families that is conducted within. His gaze also is directed outside the walls – to the community at large.
"We want to take our research findings not only from the bench to the bedside, but also to the neighborhoods where people work and live," says Abbeduto, who holds the Tsakopoulos-Vismara Endowed Chair in the Department of Psychiatry and Behavioral Sciences in the UC Davis School of Medicine. "We want to develop affordable and accessible interventions for all families who need them – whether or not they can come to us directly. I envision a clinic without walls."
Abbeduto is following the MIND Institute’s tradition of dreaming big. The institute – its full name is the Medical Investigation of Neurodevelopmental Disorders Institute – started in 1997 when a small group of committed families with children with autism came together to do whatever it took to get help for their children. Their best bet, they felt, was to establish a research center at UC Davis to find answers, develop therapies and provide support for children like theirs. After a tremendous amount of work, generous donations from community members and matching funds from the university, the state of California established the MIND Institute just a year later with an annual appropriation of $2 million. The grand opening of the institute’s complex, specially designed for its unique patient population, took place in March 2003.
Robust research provides strong foundation
Remarkably, just a decade later, the MIND Institute is among the most elite U.S. neurodevelopmental centers. It recently earned the prestigious designation as a Eunice Kennedy Shriver Intellectual and Disabilities Research Center, a distinction held by only 15 other institutions nationwide. The honor recognizes the institute’s research accomplishments – and potential – in the diagnosis, investigation and treatment of myriad disorders in addition to autism, including fragile X syndrome, 22q11.2 deletion syndrome, Down syndrome and attention-deficit/hyperactivity disorder.
"To be selected for the IDDRC program, an institution must meet rigorous scientific criteria," Melissa Parisi, chief of the National Institute of Child Health and Human Development’s Intellectual and Developmental Disabilities Branch, says. "We eagerly await the MIND Institute’s contributions to the program and to intellectual and developmental disabilities research."
The designation comes with a five-year, $6.5 million grant. According to Abbeduto, this funding will allow creation of shared resources to support all of the innovative projects at the MIND Institute. "It will move our translational science agenda forward more quickly, accelerating our progress toward new treatments for families," he says.
Judy Van de Water’s groundbreaking discovery of the role of autoimmunity in autism is just one example of the innovative research conducted under the auspices of the MIND Institute. Her studies suggest that 23 percent of mothers with an autistic child produce antibodies to key proteins critical to normal brain development, compared with fewer than 1 percent of mothers of children without the condition. The antibodies are believed to cross the placenta and damage the fetus’ developing brain.
Van de Water’s preliminary findings have led a California biotech company, Pediatric Bioscience (PBI), to undertake validation and development of a simple blood test for these two antibodies, expected to be available in 2015.
According to Van de Water, once validated the test could be used in two important ways. Mothers of children with autism who wish to become pregnant again could be tested to assess their risk of having another child with the syndrome. Second, mothers of young children who are showing signs of developmental delays could be tested.
"If a mother of a child with suspected autism tests positive for the antibodies, the child would be an immediate candidate for early behavioral intervention," Van de Water says. "Studies show that is vital for improving outcomes and quality of life for the child."
"From basic research, we will soon have the first available biomarker test for autism," adds Abbeduto. "This is a real boon for families who are searching for answers that they can act upon."
A center for family support
The MIND Institute has not only developed into a world-class research institution but into a nationally recognized center of treatment and support for children and adults with neurodevelopmental disorders. The institute is one of 67 federally designated as a Center for Excellence in Developmental Disabilities. The center collaborates with people with developmental disabilities and their families to improve their quality of life and promote community inclusion through advocacy, community partnerships and translation of research into practical applications. Resources and support groups are available at the center for children with a wide range of conditions, such as genetic disorders, brain injuries and mental illnesses.
The MIND Institute also houses the Fragile X Research and Treatment Center, directed by Randi Hagerman. Fragile X syndrome is the most widespread single-gene cause of autism and inherited cause of intellectual disability, causing symptoms that can range from mild to severe. Randi, with her husband Paul Hagerman, professor in the Department of Biochemistry and Molecular Medicine, have been instrumental in bringing the syndrome to national attention and developing tools for diagnosis and support for entire families.
Because of the propensity of the underlying genetic mutation to intensify over generations, affected children often have grandparents who led a normal life but develop increasing physical and cognitive debility at the same time as their grandchildren are being diagnosed. The Hagermans were the first to recognize this related genetic disorder in the carrier grandparents and other family relatives, naming it fragile X-associated tremor/ataxia syndrome (FXTAS – pronounced "FAX-tass").
The Fragile X Research and Treatment Center provides comprehensive clinical services for patients and families, utilizing the expertise of specialists in genetics, psychology, neurology, speech and language pathology, occupational therapy and genetic counseling. Several trials of targeted treatments focused on reversing the features of fragile X syndrome are underway. Characteristic of the MIND Institute, a search for answers leading to better treatments permeates the center’s work.
"Our clinical evaluations and treatments of patients with fragile X are important components of our center and actually guide our research," says Randi Hagerman, who also serves as medical director of the MIND Institute."Most of our families who are involved with clinical interventions also participate in treatment research protocols."
"If a mother of a child with suspected autism tests positive for the antibodies, the child would be an immediate candidate for early behavioral intervention. Studies show that is vital for improving outcomes and quality of life
for the child."
To achieve a "clinic without walls," Abbeduto looks toward broadening the reach of the MIND Institute via telemedicine. The infrastructure to support this technology has grown tremendously in the past decade at UC Davis Medical Center, enabling live, video-based clinical consultations throughout much of Northern California, including remote and rural areas. Abbeduto envisions using the technology for training health-care providers in new interventions and treatments, providing counseling to families, and monitoring patients who live too far away to regularly come to the institute for follow up.
But while gazing outward, Abbeduto never takes his focus off the very core of the MIND Institute – the vision of the founding families.
"The dreams of the founders remain at the heart of our work," says Abbeduto. "The MIND Institute exists solely for the purpose of making life better for families affected by neurodevelopmental disorders.With every new transformation, we have them firmly in mind."