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Discovery Summer 2010 Number 29 | Summer 2010 | Vanderbilt University Advancing Down Syndrome Research BY JAN ROSEMERGY Dyslexia Linked to Differences in Brain Circuitry esearch that ultimately affects the lives of persons with Down syndrome or other Rdevelopmental disabilities could not take place without the participation of children BY MELANIE MORAN and adults with disabilities and their families. In turn, families and a wide array of hildren with dyslexia often struggle with professionals, from health care Creading, writing, and spelling, despite getting professionals to educators, benefit from an appropriate education and demonstrating the knowledge generated through intellectual ability in other areas. New neurological research. This crucial relationship research from Vanderbilt University has found that between families and researchers was these children’s difficulties with written language apparent on a March evening when may be linked to structural differences within an family members and VKC researchers important information highway in the brain known gathered for a Community Forum to to play a role in oral language. The findings were answer the question, “What’s on the published in the June 2010 issue of Cortex . Forefront of Down Syndrome Research?” VKC researchers Sheryl Rimrodt and Laurie The impetus for the Forum came from Cutting and colleagues at Johns Hopkins University VKC Leadership Council members and the Kennedy Krieger Institute used an emerging Melissa Beasley, Anne Nesbitt, Margaret MRI technique, called diffusion tensor imaging Spickard, and others who are the parents (DTI), to discover evidence linking dyslexia to or grandparents of children with Down structural differences in an important bundle of syndrome. white matter in the left-hemisphere language “I am the mom of a very lively 3-year- network. White matter is made up of fibers that can old with Down syndrome,” said Melissa be thought of as the wiring that allows Beasley, “and, as Ethan’s mom, I’m very communication between brain cells. The left- N grateful for the research that’s happened hemisphere language network is made up of bundles I P U A M over the last several decades—research of these fibers and contains branches that extend Y N O T that has increased awareness, increased from the back of the brain (including vision cells) to life expectancy, enhanced speech and the front parts that are responsible for articulation Ethan Beasley, whose family supports research on Down syndrome through the Beasley Family language treatment techniques, and and speech. Discovery Grant improved overall quality of life for Continued on page 3 persons with Down syndrome.” On behalf of the crowded room and the many families who could not be present, she expressed gratitude for having, in Nashville, a Eunice Kennedy Shriver NICHD Intellectual and Developmental Disabilities Research Center. Four VKC researchers reported on their efforts to advance understanding of Down syndrome and speed development of new interventions. Continued on page 2 Director’s Message On the Roadmap he announcement of the National Institutes of Health T(NIH) Roadmap for Research on Down Syndrome in 2008 was a milestone for families and researchers alike. The Roadmap set forth short-term, medium-term, and long-term goals to achieve by 2018 in five research areas. At a Vanderbilt Kennedy Center Community Forum in June 2008, VKC researchers summarized the Plan and committed ourselves to contributing to achieving these national research goals. On an evening in March 2010, we again gathered with S E G D I R families, advocates, and colleagues to share innovative work B E I Elisabeth Dykens N A taking place here. In preparation, wanting to provide a L E national context for this Center’s work, I checked the NIH website to search for and to M read abstracts related to Down syndrome. Nadezhna Kabiling is among the students who have Searching for grants relating to Down syndrome within the last year, I found only five benefitted from the VKC Reading Clinic, which provides national projects on questions related to children with Down syndrome—and two of tutoring for children with dyslexia or other causes of reading difficulty. The VKC integrates reading-related Continued on page 3 research, training, and services. TABS Conference Helps Siblings Network.................................................................................... 4 highlights Advance in Autism Genetics........................................................................................................... 5 Empowering Families with Young Children in Transition............................................................... 8 Dollar General—“Saving Lives” by Promoting Literacy................................................................... 10 DOWN SYNDROME RESEARCH from page 1 Developing a Research Repository adults with Down syndrome Vanderbilt’s clinical services are poised to play an are prone to premature increasingly important role in supporting research aging. The study includes on Down syndrome, said Tracy McGregor, M.D., adolescents, ages 16-20 director of the Down Syndrome Clinic in Vanderbilt years, and adults, 35-40 Pediatrics Division of Developmental Medicine. years. The Vanderbilt Down Syndrome Clinic provides Memory loss is among comprehensive care and professional services to the earliest markers of children and adults with Down syndrome. A aging, but memory is not a multidisciplinary team of expert medical providers strength in Down syndrome from different specialties are available in a single throughout the lifespan. visit. Children’s services are provided through Aging can also be associated Pediatrics Division of Developmental Medicine, and with changes in emotional adult services through Internal Medicine. states, such as increased McGregor is working with VKC colleagues to depression, but individuals develop a research infrastructure within the Down with Down syndrome may F F A T Syndrome Clinic. These efforts include development S lack expressive language to P E T of a research registry of children and adults with S describe inner states. T X E N Down syndrome, so that families can be contacted F “By using brain waves O Y S for future research. The Clinic also will facilitate a E instead of behavioral T R U O repository of medical, behavioral, demographic, C responses, we are able to social, and other data, which will be collected work around the intellectual Edward Nesbitt, a Next Step student who was an intern at the Jr. League annually and can be collected by phone. The Family Resource Center (in photo) and in Development and Alumni Relations disability,” Key said. repository has been approved by Vanderbilt’s as part of his educational goals in Next Step at Vanderbilt Participants with Down Institutional Review Board, which safeguards the syndrome view several slide rights of research participants, and data collection is Down syndrome data repository, which is one shows while a net of soft sensors records their brain beginning. of the goals of the National Institutes of Health activity. Because the brain responds differently to “Our goal is to be unselfish with the Roadmap for Research on Down Syndrome novel versus familiar stimuli, and is more sensitive to information,” McGregor said, “sharing data with (see Director’s Message). information that matches an internal emotional investigators who propose studies on Down state, few behavioral response demands are placed on syndrome.” Reducing Parental Stress participants. The repository is being planned in a way that As a clinical psychologist, Elisabeth Dykens, Ph.D., This noninvasive approach using EEG has yet would allow it to be integrated into a national has conducted studies that describe high levels of to be widely used in Down syndrome research and stress experienced by parents of children and adults should provide new clues about who is at risk for with developmental disabilities, compared to parents early aging among persons with Down syndrome Announcing whose offspring are typically developing. and how to track age-related changes. “I wanted to do something about the stress,” Health Issues in Down Syndrome said Dykens, who is VKC director and professor of Generating Stem Cells Psychology and Psychiatry. Aaron Bowman, Ph.D., assistant professor of International Review of Research in With ARRA funding, she is leading a study that Neurology, explained the use of mouse models Mental Retardation Volume 39 This special issue, edited by Richard Urbano, compares two methods of stress reduction, a Positive and a new approach for Down syndrome research Ph.D., research professor of Pediatrics and VKC Parenting curriculum and Mindfulness-Based Stress involving the creation of stem cell lines from skin member, addresses a wide range of topics relating Reduction. The project is staffed by four parents, samples of adults with Down syndrome. to health in children and adults with Down two of whom have children with Down syndrome. Individuals with Down syndrome have an syndrome (DS). Data is being collected on parental health, positive extra, or third, copy of chromosome 21. Each and negative psychological states, and biomarker chromosome contains genes that are the basic Contents include: indices of stress during and following the group building blocks of the body’s functions. Mouse • Overview of health issues interventions. models are useful in understanding Down syndrome • Health outcomes of infants because mice share large segments of the genes on and toddlers Examining
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