Autism Studies Presented at Mid-Atlantic Research Consortium Meeting

05/8/2009

Science is largely a collaborative enterprise. Frequently researchers from various disciplines but with some common interests pool their efforts and exchange ideas, to devise new avenues of investigation. When unraveling complex conditions such as those known as autism spectrum disorders, researchers from different centers also benefit by drawing on diverse populations of patients, finding a broader pool of information than even a large facility can provide.

Such collaboration is the rationale for the Mid-Atlantic Research Consortium (MAC) of the federally sponsored Intellectual and Developmental Disabilities Research Centers (IDDRC). The consortium met on April 27 to focus on autism studies. The Children's Hospital of Philadelphia hosted the full-day research symposium, which brought together scientists from centers in Philadelphia, Baltimore and Washington.

The research centers have a history of cooperation with one another going back 25 to 30 years, said the symposium's moderator, Marc Yudkoff, M.D., director of the IDDRC at Children's Hospital, and a faculty member of the University of Pennsylvania School of Medicine.

CHOP and Penn, along with Children's National Medical Center in Washington, D.C., and the Kennedy Krieger Institute of Johns Hopkins University in Baltimore, comprise the Mid-Atlantic Research Consortium. All four institutions have centers created and funded by the National Institutes of Health, committed to researching causes and treatments of developmental disabilities and mental retardation. "The goal of all our
centers, both at CHOP and throughout the country, is to improve both diagnoses and outcomes for people with developmental disabilities," said Yudkoff, who is chief of Child Development, Rehabilitation and Metabolic Disease at Children's Hospital.

The consortium made autism spectrum disorders the centerpiece of their meeting, said Yudkoff, acknowledging multifaceted research being pursued by the participating centers, using genetics, neurobiology and imaging studies to investigate the intricate puzzle of autism.

"The last 20 years of research have made it clear that autism is not a single disease, but a continuum of multiple disorders -- that's why we refer to the autism spectrum," said Michael Robinson, Ph.D., associate director of the IDDRC at Children's Hospital. "Researchers ultimately must subclassify patients based on genetics and behavior, then focus on subgroups of ASDs in animal models. Scientists will then translate those findings into therapies personalized to a child's specific subtype of autistic disorder."

Gene studies took the stage in a presentation by Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at CHOP. Hakonarson described the first study to find a common gene involved in autism spectrum disorders (ASDs), research that attracted substantial press attention when it was published the day after the symposium. That study and another study by Hakonarson's team found two major gene pathways involved in autism, both of which play important roles in early brain development.

Several researchers presented the results of brain imaging studies. Lauren Kenworthy, Ph.D., of Children's National Medical Center, showed how brains respond when children are asked to complete tasks that involve memory and organization. Different brain regions were active in children with high-functioning autism, in contrast to brain activity in "neurotypical" children -- those without autism or other neurological disorders. Robert Schultz, Ph.D., director of the Center for Autism Research at CHOP, used magnetic resonance imaging (MRI) and other imaging tools to study the "social brain," showing how children with ASDs and neurotypical children have contrasting patterns of brain activity when recognizing people's faces.

In a third broad area, basic science studies, Mary Blue, Ph.D., of Kennedy Krieger Institute, presented the results of animal studies that shed light on how autism operates in humans. By altering the flow of serotonin, a neurotransmitter in the brain, Blue showed that mice behaved less socially, had impairments in fine motor functions and increased repetitive behaviors. The changed animal behaviors, said Blue, shared similarities with some behaviors seen in children with ASDs, and greater knowledge of the relationship between brain chemicals and behavior might suggest future treatments for children.

Melissa Parisi, M.D., Ph.D., of the Eunice Kennedy Shriver National Institute of Child Health and Development, provided a federal government perspective on the research findings. Parisi, who heads up the NIH branch that supports the various IDDRC programs, noted that all the centers are multidisciplinary, with an emphasis on quickly translating scientific discoveries into clinical treatments. Referring specifically to autism research within NIH, Parisi added, the overall plan "addresses overarching questions for families, such as what treatments work, and what does the future hold?"

About The Children's Hospital of Philadelphia: The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking second in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 430-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu.

CONTACT: John Ascenzi, +1-267-426-6055, Ascenzi@email.chop.edu


SOURCE The Children's Hospital of Philadelphia