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May 23, 2003/Iyar 21 5763, Vol. 55, No. 39
Research delves into roots of autism
RAEANNE MARSH
Special to Jewish News
One in every 250 children born in the United States is diagnosed with autism.
Photo by Stephen Dreiseszun/Viewpoint Photographers
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Autism is a worldwide epidemic that strikes across ethnic, socioeconomic, and racial lines, affecting one child in every 250 born today (a 701-percent increase, in the last decade, of diagnosed cases). The sobering reality is that autism is the No. 1 developmental disorder among children in the United States.
It strikes without warning before a child's third birthday, and its manifestations are far more complex than the "tuned out and shut down" stereotype. Almost 90 percent of those currently diagnosed are under the age of 21, a foreboding prospect for educational and health institutions that are hard-pressed to understand, let alone handle, the needs of these children.
As recently as 10 years ago, when Denise and Robert Resnik's son was diagnosed with autism, the advice from the medical community was to love him, accept him, and plan to institutionalize him. What Denise Resnik did, instead, was found the Southwest Autism Research Center (now the Southwest Autism Research and Resource Center, or SARRC) which today occupies a position as a repository of clinical case-study data.
Enter the Trans-lational Genomics Research Institute (TGen) - a high-profile entry as Phoenix sought to establish itself as a center for genetic research.
A collaboration was recently an-nounced between SARRC and TGen, aimed at determining the underlying causes of autism.
Although reluctant to predict when or what progress will result from the proposed study, Dr. Dietrich Stephan, director of TGen's Neurogenomics Research Program, is excited by the project.
TGen's sophisticated technology relies on data collected from case studies, and the more data it has to look at, the more accurate a picture it can develop. Families affiliated with SARRC have enthusiastically offered to cooperate in the study.
"There are three levels of intervention points," Stephan explains, naming RNA and protein along with DNA, the basic blueprint, the map of whose of three billion letters was announced only last month. This study will look at DNA and protein (from blood samples), ignoring RNA, which requires samples of brain tissue. Simply put, TGen will scan through the genome and the protein, finding defects by comparing differences between samples from children with autism and those without.
TGen is so dedicated to this project, Stephan notes, that it committed its own funds to kick off the project. It's expected to be a $5 million project, and SARRC and TGen are working to attract both federal and local support.
It is hoped that pharmaceutical companies will use TGen's research to pursue research into drug therapies. Explains Stephan, "It's easier to couple a drug to a problem when you under-stand what's wrong."
The genome re-search may have application to non-drug therapies as well. "If we could figure out a way to diagnose which kids will get autism, it may be possible to develop an early therapeutic way to help the children," Stephan observes.
Early intervention, even at our current level of understanding of this disease, can save $5 billion over the normal life span for children with autism in Arizona alone - based on current numbers only - Resnik reported at a recent breakfast held to raise support for autism research.
"There are huge costs associated with providing habilitation, therapeutic services and special education, but this early intervention is critical and pays long-term dividends," she explains. Declares SARRC medical director Dr. Raun Melmed, a developmental pediatrican and co-founder of SARRC, "Appropriate educational intervention might actually help solve the problem or help alleviate some of the more challenging aspects."
TGen's research focuses on the genetic component of autism. There is probably an environmental factor as well, such as exposure to environmental contaminants during pregnancy.
SARRC approaches the problems associated with autism both scientifically and holistically. "No one is quite sure where everything begins," Melmed points out, "so an holistic look is important." It's also important to keep the rest of the family in mind when developing support programs.
Other collaborations include projects with ASU and NAU focused on preparing educators to work with autistic students; and a promising study, with 18 other clinical trial sites in the U.S., on the effectiveness of secretin, a synthetic human pancreatic hormone.
A collaboration with a research center in Italy recently resulted in identifying a specific gene, named reelin, whose absence or deficiency may affect a child's predisposition to developing autism.
When reporting that SARRC receives at least one call every day from a newly diagnosed family, Resnik stresses the word "family." "Autism not only affects an individual, it impacts the entire family - what you do, where you go, and how you feel largely depends on your affected child."
Before SARRC was founded in 1997, says Melmed, information on autism was confusing and contradictory. SARRC not only offers information and supports research efforts, it delivers a wealth of outreach programs including a summer camp, a pre-vocational program to provide a foundation for meaningful employment, and JumpStart, which helps parents learn how to begin working with their autistic child as well as how to keep their family and selves together.
Having outgrown its current facility, SARRC is developing a new one that will include classrooms. This is particularly exciting, Resnik explains, because the classrooms will provide an environment conducive to learning (without, for instance, the fluorescent lights and loud air conditioning systems to which these children are often hyper-sensitive) as well as serve as a model to help train educators.
It may be just coincidence that many people are Jewish who were involved in founding SARRC (Resnik; Melmed; and Jonah Shacknai, CEO of Medicis Pharmaceutical and SARRC board member). But it is no coincidence that Resnik, owner of Denise Resnik & Associates marketing and public relations company, had the initiative to respond in a way that would benefit others.
"My parents and grandparents lived the meaning of tzedakah. I grew up learning the reward of giving back, and also the privilege of giving back. My greatest reward is to think that what I do will in some way improve and enhance the lives of others."
"Following our recent meetings and discussions with Dr. Stephan and his colleagues at TGen, I found myself going to a place I have not been in more than a decade - life without autism," Resnik shared with the supportive audience at the recent SARRC fund-raising breakfast. It's hope tempered with caution, but as Melmed observes, "In many ways it's comforting to parents just to know organizations, including funding organizations, are taking autism seriously."
RaeAnne Marsh is a Phoenix-based free-lance writer.
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