Elisabeth Dykens, Ph.D.
Meet to focus on NIH Down syndrome plan
Robert Hodapp, Ph.D.
Vanderbilt Kennedy Center investigators instrumental in developing the National Institutes of Health (NIH) 10-year plan for Down syndrome research and treatment will host a forum to discuss the priorities at 8 a.m. Wednesday, June 18, in Room 241 of the MRL Building.
Down syndrome, the most frequent genetic cause of mild to moderate intellectual disability, is a chromosomal disorder caused by the presence of all, or part, of an extra 21st chromosome. It is named after John Langdon Down, the British doctor who described the syndrome in 1866.
Prevalence rates usually range from 1 in 800 to 1,000 newborns, although a recent Centers for Disease Control and Prevention (CDC) study found 1 in 733 live births.
After more than 140 years of studying the developmental disability, researchers are still searching for answers to simple questions including how to teach basic reading and writing skills to students with Down syndrome.
“We have known about Down syndrome for decades and the fact that we still don't have basic answers to very simple questions is appalling and inexcusable,” said Elisabeth Dykens, Ph.D., a professor of Psychology and Human Development and associate director of VKC.
Dykens and Robert Hodapp, Ph.D., a professor in Special Education and director of Research for the VKC University Center of Excellence on Developmental Disabilities (VKC-UCEDD), contributed in developing the plan through executive committee and task force work with both the NIH and CDC.
“The syndrome was badly in need of a coordinated, federal research agenda and the NIH and the CDC were instrumental in working together with researchers, care-providers, parents and community organizations to give us a blueprint to increase the amount and depth of research,” Hodapp said.
The June 18 forum is open to the public, with a special emphasis on parents of children with Down syndrome, state and local organizations, Vanderbilt researchers and colleagues.
“We want to take this plan to heart and really have Vanderbilt and the Vanderbilt Kennedy Center be a leading player in starting to fill these gaps and meet this mission,” Dykens said.
“We need our full interdisciplinary community — researchers, cardiology, mental health, aging, neurology, animal modeling, family and child studies, and special education — to come together to solve this.”
In the end, success of the NIH plan will depend on funding.
“It is great to have a well-informed, up-to-date plan, but we need to make sure that the funding is actually there to do the work,” said Dykens, also director of the VKC-UCEDD.
“We have a great sense of where the gaps in research are and now we need to fill them.”
Dykens would like to see more study in areas including mental health issues, risk factors for later onset of Alzheimer's disease, the relationship between Down syndrome and autism spectrum disorders, and the effects of cardiac surgery on children with Down syndrome born with heart defects.
She is also interested in seeing more research on family demographics and possible racial disparities associated with Down syndrome.
“This is a really great time for us to grow, to add on,” she said. “I would like to recruit more research faculty who focus exclusively on Down syndrome. And we want the Vanderbilt Down Syndrome Clinic to grow from a pediatric focus to a lifespan focus, given increased risks of Alzheimer's disease.
“Yes, we need to better understand Down syndrome to improve treatment, longevity and quality of life but there are also attributes more prevalent in children and adults with Down syndrome that could benefit the general population — a great sense of humor, kindness and forgiveness.”
Registration ends June 13. For more information call 322-8240 or go to kc.vanderbilt.edu/registration.
The NIH plan can be accessed at www.nichd.nih.gov/publications/pubs/upload/NIH_Downsyndrome_plan.pdf.