Down Syndrome Center Newsletter - Spring 2015
From the Director - Maryland Senate Passes Bill to Provide Evidence-Based Information on Down Syndrome to New or Expectant Parents
Dear parents and friends,
On May 5, 2014, then Governor Martin O’Malley signed into law Senate Bill 654, requiring the Maryland Department of Health and Mental Hygiene (DHMH) to provide up-to-date, evidence-based, written information about Down syndrome to healthcare providers and new or expectant parents. DHMH will also provide contact information for national and local Down syndrome organizations that provide education, support programs, and services. Under this law, all Maryland healthcare providers are authorized to provide this information to parents of children who receive a diagnosis of Down syndrome. Spearheaded by the Maryland Down Syndrome Advocacy Coalition (MDAC) and other Down syndrome advocates across the state, parents and self-advocates participated in a grassroots effort to get this legislation passed.
On October 1, 2014, I and every physician in Maryland received a letter from Secretary of the DHMH Joshua Sarfstein, M.D., informing us that information about Down syndrome for expectant parents and healthcare providers is now available in both English and Spanish on the DHMH website at http://phpa.dhmh.maryland.gov/genetics/SitePages/DownSyndrome.aspx. Documents include an informational fact sheet and separate resource listings for families, healthcare providers, and other service providers. I was honored to serve on the DHMH Down Syndrome Work Group that assisted in the selection of materials, along with Ken Rosenbaum, M.D. (Children’s National Medical Center), and Heather Sachs, Esq., a founding member of MDAC and parent to 9-year-old daughter Leah.
This informational resource is a game changer, and something that our entire community can be proud of. Finally, the dissemination of accurate, balanced information to new parents learning about Down syndrome is being realized.
Congratulations to those families who provided testimony or contacted their state delegates to make this legislation possible!
George T. Capone, M.D.
Q: Recently, Maryland passed a law that families must be provided with current and accurate information when a diagnosis of Down syndrome is given to their child. What impact do you think this will have on people with Down syndrome and their families?
/>A: First of all, let me congratulate the Down syndrome community for working relentlessly to pass this law. Now with advances in prenatal testing, it is even more imperative that expectant mothers are informed of accurate, evidence-based information. This will ensure that new parents are not left feeling hopeless or clueless about what to expect with their child’s diagnosis. I am hopeful that this law will provide a platform to empower all new families and the entire Down syndrome community.
Q: What are the first resources families should seek when their newborn or infant is diagnosed with Down syndrome?
It is very important to establish a support system and find local resources. Local parent support groups are an excellent start. Next, families with a newborn or infant should establish a relationship with a medical professional who can oversee their child’s comprehensive medical and developmental care, such as our Kennedy Krieger Down Syndrome Clinic and Research Center.
Q: The Down Syndrome Clinic and Research Center (DSCRC) at Kennedy Krieger Institute is included on the list of service resources that will now, by law, be provided to families at the time of diagnosis. What evaluations and services can the DSCRC provide to families, in addition to the care provided by their pediatrician?
Kennedy Krieger has so much to offer—referrals for appropriate evaluations and services from multiple disciplines can be provided. When a child is seen in our clinic for the first time, in addition to a complete medical and developmental evaluation, a physical therapy evaluation is usually scheduled, as motor delay is a prevailing concern for parents during the first year. Raising a child with special needs is a long journey, and navigating through the system is almost always a challenge. A developmental pediatrician from the DSCRC can help guide and support families along the way.
Dr. Mihee Bay is a developmental pediatrician and Down syndrome specialist at the Down Syndrome Clinic and Research Center at Kennedy Krieger Institute.
To schedule an evaluation for your child with Dr. Bay, please call Kennedy Krieger Institute at 443-923-9400.
The Cycle Challenge, which started on September 1 at Prettyboy Reservoir, wrapped up on October 26, 2014 at Loch Raven Reservoir in Baltimore County. During that time, Dr. Capone cycled 204 miles to surpass his target of 200 miles. More than $6,500 was raised in support of Down syndrome research at Kennedy Krieger Institute. Thank you to all who supported this effort.
“It was an amazing experience to be able to focus on attaining this goal throughout the summer,” says Dr. Capone. “Over eight weeks, my travels took me through Baltimore County (Pretty Boy and Loch Raven Reservoir, Patapsco State park, Jacksonville, and Towson), Baltimore City (Lake Montebello and Joe’s Bikes), and Dorchester County (Blackwater National Refuge and Hooper’s Island).”
Stay tuned for more details about the upcoming 2015 Cycle Challenge!
Your financial gift ensures that children, adolescents, and adults with Down syndrome are able to participate in studies designed to advance treatment now and in the future.
Sleep Apnea and Beta-Amyloid in Adults with Down syndrome, Ages 30-60 Years
Researchers at Kennedy Krieger Institute and Johns Hopkins University are recruiting for a study examining the relationship between sleep apnea and beta-amyloid protein, which plays a role in dementia and can impair thinking and cognition.
Participants will receive an assessment for sleep apnea and undergo a lumbar puncture in order to measure the amount of beta-amyloid in spinal fluid. Compensation is offered for your time.
Please contact the study coordinator, Cathleen Weadon, at 443-923-9140 for more information.
Clinical Trial for Adults with Down syndrome, Ages 18-30 Years
The purpose of this study is to learn about the safety, tolerability, and efficacy of a new drug (RG1662). This drug may improve learning, memory, and behavior in people with Down syndrome, but this cannot yet be confirmed.
This study involves taking the investigational drug twice a day by mouth for about six months. The full study may take up to 10 months to complete, and you will visit Johns Hopkins about 10 times. There is no cost to participate in this study.
Subjects will be paid for reasonable travel expenses to participate.
Please call the study coordinator, Carrie Blout, MS, CGC, at 410-502-7535 for more information about this new study.
Amyloid Imaging in Adults with Down syndrome, Ages 21-75 Years
Through a partnership between the DSCRC at Kennedy Krieger Institute and Dr. Gwenn Smith in the Department of Psychiatry and Behavioral Sciences at Johns Hopkins University, we are piloting a study of brain metabolic function in adults. The study involves cognitive and behavioral testing, and an MRI and PET scan of the brain to determine if amyloid protein deposition is present. For more information, please call 410-550-4192.
G. Capone and Meghan O’Neill. (2015). Clinical aspects of Down syndrome with Alzheimer’s disease symptomatology. In Ed. Salehi, A. Rafii, M. (Eds.), Common Pathogenic Mechanisms between Down Syndrome and Alzheimer’s Disease: Steps Toward Therapy. Bentham Science eBook (In Press).
DS-Connect™: A Registry for People with Down Syndrome
What is DS-Connect?
DS-Connect is a voluntary, confidential, online survey that collects basic health information about people with Down syndrome.
This resource was launched by the National Institutes of Health with help from the Down Syndrome Consortium, a group of national and international organizations that focus on and support the Down syndrome community.
Why should I join DS-Connect?
DS-Connect participants can:
- Print out a summary of their health history
- Find healthcare providers in their area who care for people with Down syndrome
- Help healthcare providers improve care for people with Down syndrome
- Explore trends in the overall health of people with Down syndrome based on survey results
- Learn about new studies for people with Down syndrome
- Connect with scientists who study Down syndrome
- Help scientists develop new treatments for people with Down syndrome
How do I join DS-Connect?
It’s easy, confidential, and secure:
- Go to https://DSConnect.nih.gov.
- Click the “Join the Registry” link on the homepage.
- Set up an account by creating a username and password.
- Complete the consent/assent form.
- Once you’ve created your profile, fill out the information about the person with Down syndrome, including the Initial Health Questionnaire and other related surveys.
Improving healthcare and research opportunities for people with Down syndrome is a consuming task. Dr. Capone frequently speaks to parents, health professionals, educators, therapists, and patrons about the clinic, its research projects, and the latest findings from the DSCRC.
In October 2014, Dr. Capone traveled to Monterrey, Mexico to participate in the 5th Congress on Down Syndrome. The event is held every two years in Monterrey, Mexico, and brings together experts from around the world to provide education and guidance to families and professionals who serve individuals with Down syndrome. Dr. Capone was recognized and honored by the FSDNL—Familia, Salud y Desarrollo en Sindrome de Down, Nuevo Leon (Family, Health, and Development in Down Syndrome, Nuevo Leon) for his commitment to improving the lives of people with Down syndrome.
Save the Date: Relaxation at the Wine
The first Relaxation at the Vine event will take place on April 9, 2015, at Boordy Vineyards in Hydes, Maryland. Come out to enjoy a unique selection of wines, surrounded by a beautiful landscape, all while supporting a great cause. The event will benefit the Down Syndrome Clinic and Research Center at Kennedy Krieger Institute. Please visit our website for more details and ticket information: http://supportus.kennedykrieger.org/site/Calendar?id=101481&view=Detail.
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