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Down Syndrome Center Newsletter - Winter 2013
From the Director - Remembering Sig Pueschel, MD, PhD, JD, MPH (1932-2013)
The Down syndrome community mourns the loss of Dr. Siegfried M. Pueschel, a pioneer who, over the past four decades, advanced our understanding and care of people with Down syndrome around the world.
Sig was well-known as a superb teacher, mentor, colleague, and friend to countless physicians and professionals working on behalf of people with Down syndrome in the U.S. and across the globe. He was a true humanitarian, trusted physician, tireless advocate, and loving parent who never wavered in his devotion to serve the community that so admired him. He was a man who literally changed the world for the better, and lived to see it in his own lifetime. It is our collective responsibility to honor his legacy by continuing his work in whatever capacity we are able.
Thank you, Sig, for your leadership and, above all, for your humanity.
Learn more about Sig’s remarkable life and contributions at https://www.facebook.com/pages/In-Memory-of-Dr-Siegfried-M Pueschel/365451906891366.
Current Research Initiatives at Kennedy Krieger
Brain Imaging in Adults with Down Syndrome
Kennedy Krieger Institute and the Department of Psychiatry and Behavioral Sciences will be conducting a study consisting of brain imaging and behavioral testing. Adults with Down syndrome may be eligible to participate. Enrollment will begin in spring 2014. Stay tuned for more details in our next newsletter.
Depression, Functional Decline, and Sleep Disorders in Adults with Down Syndrome
The goal of this study is to improve our understanding of the relationship between sleep, stress, metabolism, and mental health in individuals with Down syndrome. Participants will include adults with Down syndrome, ages 18-30 years, who are currently experiencing new onset of depressed mood and loss of functional skills. Adults without any mental health symptoms may also be able to participate. Enrollment will being in spring 2014. Stay tuned for more details in our next newsletter.
Having a family member with Down syndrome is a unique and very personal journey. Your financial gift in support of our work helps our patients and their families unlock their greatest potential. Your financial support ensures that children and adults with complex conditions can participate in person-centered studies to advance the treatment options we are able to offer.
New Articles/ Recent Publications
Capone GT, Aidikoff JM, Taylor K, Rykiel N. 2013. Adolescents and young adults with Down syndrome presenting to a medical clinic with depression: Co-morbid obstructive sleep apnea. American Journal of Medical Genetics Part A, 161(9), 2188-96.
Recent findings from DSCRC highlight the connection between new onset depression and undiagnosed sleep apnea in young adults.
Busciglio J, Capone G, O'Byran JP, Gardiner KJ. 2013. Down Syndrome: Genes, Model Systems, and Progress towards Pharmacotherapies and Clinical Trials for Cognitive Deficits. Cytogenetic and Genome Research. DOI: 10.1159/000354306. Published online August 30, 2013.
Report on the Conference on Cognition in Down Syndrome: Molecular, Cellular, and Behavioral features and the Promise of Pharmacotherapies. Washington D.C. April 13-15, 2013.
NIH Down Syndrome Patient Registry Now Live
DS-Connect registry connects families and individuals with Down syndrome to researchers.
The National Institutes of Health has launched DS-Connect, a web-based health registry that will serve as a national health resource for people with Down syndrome and their families, researchers, and healthcare providers.
“The Down syndrome community has voiced a strong need for a centralized, secure database to store and share health information,” says Yvonne T. Maddox, deputy director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which funded and developed the registry. “DS-Connect fills that need, and helps link individuals with Down syndrome to the doctors and scientists working to improve their health and quality of life.”
Participation in the registry is free and voluntary. Individuals with Down syndrome, or family members, on their behalf, may sign up to create personalized profiles with information about their health histories, including symptoms, diagnoses, and medical visits. The website was designed to ensure that all information remains confidential. The site will separate users’ names from their health information, so that individuals may compare their health information with that of all other participants in an anonymous manner.
If participants give permission to be contacted, the registry coordinator can inform them of research studies in which they may be interested. Results from these studies will help researchers better understand Down syndrome and how to treat its accompanying health problems across the lifespan.
“DS-Connect is for people of all ages, not just children,” says Dr. Maddox. “Right now, we don’t have much data on older individuals with Down syndrome, and that’s been a problem. People with Down syndrome are living longer, and researchers and physicians will require information about the health issues and needs of these individuals to make recommendations about their healthcare.”
The Down Syndrome Consortium, a public-private group established in 2011 to foster the exchange of information on Down syndrome research, will be a critical player in helping to disseminate information about the registry to the Down syndrome community. The consortium includes individuals with Down syndrome and their family members, representatives from professional societies and advocacy groups, and NIH scientists.
“We’ve been fortunate to have so many experts and advocates provide input on this effort,” explains Dr. Maddox. “The establishment of this registry is a tremendous step forward for Down syndrome research, and the resource will become all the more beneficial as more individuals join in the months and years ahead.”
Medical and Research Conferences Recap
The 41st Annual National Down Syndrome Congress (NDSC) Convention was held July 19-21 in Denver, CO. Dr. Capone, who attends this event annually, serves as a member of the NDSC Board of Directors and Professional Advisory Committee.
The Down Syndrome Medical Interest Group (DSMIG-USA) Annual Meeting & Symposium was held in conjunction with the NDSC Convention. The DSMIG-USA represents a group of medical and allied healthcare professionals working in clinics for individuals with Down syndrome. Since 2009, DSMIG-USA has met in conjunction with NDSC to host its membership meeting and clinical symposium. Dr. Capone has been a member of DSMIG-USA since its inception in 1996 and currently serves on the board of directors and conference planning committees.
The Global Down Syndrome Foundation (GDSF) held its inaugural national Research & Medical Care Roundtable on July 18 in Denver, CO. Attracting top scientists and researchers focused on Down syndrome, experts presented their work and answered questions for over 400 attendees, approximately 80 percent of whom were self-advocates and family members, and 20 percent professionals.
The Global Roundtable was a full-day of cutting-edge research and best-practices medical care organized into five parts: an NIH keynote and four panels focused on medical care, prenatal testing, basic research, and Down syndrome & Alzheimer’s disease. Each panel had five experts representing both research and medical care.
Expert presenters included Fran Hickey, MD, Peggy Kelley, MD, Dennis McGuire, PhD, George Capone, MD, Peter Bulova, MD, Michelle Sie Whitten, Sue Joe, Dan Ketcherside, Kelly Lennon, MD, Alberto Gutierrez, PhD, self-advocate and global ambassador DeOndra Dixon, Yvonne Maddox, PhD, Roger Reeves, PhD, Katheleen Gardiner, PhD, William Mobley, PhD, John Crispino, PhD, Tom Blumenthal, PhD, Ira Lott, MD, Jorge Busciglio, PhD, Dean Hartley, PhD, and Huntington Potter, PhD.