DS-Connect®: Step-By-Step

By Veronica Fratta

Launched in 2013, DS-Connect^® is an online health registry for individuals with Down syndrome. The registry supports Down syndrome research by collecting data on medical conditions affecting people with Down syndrome and making that de-identified information available to scientists and the medical community. The registry also connects people with Down syndrome with scientists running clinical trials.  It’s a great way to collect personal health data in one place and find referrals to medical professionals in your area.

DS-Connect^® is run by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Along with the NIH, organizations like the LuMind Research Down Syndrome Foundation, the National Down Syndrome Society, and the National Down Syndrome Congress make up the DS Consortium, which supports and disseminates information about DS-Connect^®. The current chair of the DS Consortium is LuMind RDS’s Chief Scientific Officer, Dr. Michael Harpold.

Currently, more than 3,220 people from all over the world are registered.  Yes, the registry was formed and is managed in the United States, but anyone from around the world is encouraged to participate. The more people register, the more useful information is available to the medical community and the more likely it is for treatments for medical conditions affecting individuals with Down syndrome are to be discovered.

How Does Registering Work?

Registering for DS-Connect^® is very easy and only takes about ten minutes of your time to set up an account. Just go to dsconnect.nih.gov and start filling in the required fields. You will first be asked for your name and email address and your relationship to the person with Down syndrome. You will also be asked to pick a username and password.  After signing a consent form that explains how the data will be used, you move to the second page.

Next you will be asked for information on the participant: Name, age, gender, city of birth, etc.  You can customize your profile to choose who may view your de-identified data (data stripped of all personal information like your name or address) and how you would like to be contacted, if you are open to being contacted. You may elect to share your de-identified data with researchers. You have the option of being alerted of research trials. You can also choose whether to be contacted by the registry coordinator if scientists make useful discoveries for a condition that affects you.

At all stages, your privacy is guarded and your information secure at DS-Connect^®.  DS-Connect^® does not collect your social security number or your address – just your zip code. And by de-identifying data, your personal information is kept confidential, while still allowing researchers to use the important medical data they need to better understand Down syndrome and how to treat it.

If you are still concerned about privacy issues, you can leave many sections blank— DS-Connect^® just needs a valid email address and a name (you can even put in an alias!). what is most important is the health information you enter into the registry.

After clicking on the Update button, you can either come back another day to complete the questionnaire or continue on. The initial medical questionnaire at DS-Connect^® collects information about the child’s diagnosis, other family members with Down syndrome, congenital heart defects, gastrointestinal conditions, skin and dental issues, skeletal problems, cancer, and many other medical conditions that are common in people with Down syndrome. A green bar at the top of the questionnaire helpfully logs your progress and every time you press the Next button, your data is saved so you can come back to it at a later time if necessary.

There are also questions on the education, reading, and math levels of the person with Down syndrome, as well as some information on the family and then – you’re done!

There are other questionnaires on development, prenatal and birth history, sleep, and the heart that can be filled at any time.

You can also input height and weight measurements and attach reports like echocardiograms or skin biopsies. It’s a great way to keep all your medical information organized and in the same place!

Exploring the Information

By clicking on the tab, “Explore the Data,” you can see the aggregate data of all participants. For example, you can see how prevalent sleep apnea is in people with Down syndrome, and at what age they are most likely to be diagnosed.  You might be curious to know what percentage of people with Down syndrome have atlanto-axial instability or you might wonder how many adults with Down syndrome work.  All this information and more is available on DS-Connect^®.

Knowledge is Power

Without good data, it’s hard for doctors and scientists to help people with Down syndrome obtain the best possible care. That’s why DS-Connect^® is such an important tool for the medical community and for all individuals with Down syndrome. Armed with data and facts, parents can make informed decisions about their child’s medical care and help them to thrive and succeed. Also, demonstrating an engaged community interested in research, biopharma companies are more likely to feel inspired to invest in drug therapies and treatments for people with Down syndrome.

DS-Connect^® set a very ambitious goal of enrolling 10,000 people in DS-Connect^® by 2016.  Will you help them reach their goal?  Go to dsconnect.nih.gov now to sign up.

Many thanks to Dr. Sujata Bardhan, the scientific program manager and coordinator of DS Connect, who very generously took the time to speak with us about the registry.

DS Guild of Greater Kansas City – 360 Support of Cognition Research

By Veronica Fratta

The Down Syndrome Guild of Kansas City (DSG) has been one of LuMind Research Down Syndrome Foundation’s strongest supporters. Today, we’d like to shine a light on all the good work they are doing.

Amy Allison is the Guild’s director of 13 years. When she arrived, many DSG programs were directed towards infants and young children. She made it her mission to reach out to families with older children and adults with Down syndrome, and today DSG offers a vast array of programs for people from birth to 70. With 1,300 members in 37 counties and two states (Kansas and Missouri), the Guild helps many individuals over a large area.

It became evident early on that DSG also needed to expand outreach efforts beyond serving families to include school districts, service providers, and medical professionals, or DSG would just be “preaching to the choir.” DSG began an extremely successful program to educate and train these other organizations to better interact with and support individuals with Down syndrome. The Guild’s Parents and Schools in Partnership program has been so effective that DSG has consulted with 15 other Down syndrome organizations to help them launch the program.

Another area where DSG has been heavily involved is cognition research. The members of DSG recognized that finding a therapies that could improve memory and cognition would be key to advancing opportunities and quality of life for people with Down syndrome. Since research was beyond the scope of DSG’s abilities, the organization sought out a research entity that had the contacts, the know-how, and the resources to make a real difference…which is where LuMind RDS Foundation comes in!

That journey led to Amy joining our board, becoming an invaluable member for the past three years. She’s dedicated to helping us find treatments to improve the lives of our loved ones with Down syndrome. As Amy says, “Increasing the IQ of a person with Down syndrome by 15-20 points is dramatically life changing. It can mean the difference between living at home and working in a sheltered workshop or being competitively employed while living in the community.”

DSG has reached out to other Down syndrome affiliates to encourage them to also support cognition research. By contributing to the LuMind RDS Foundation, their members will also be benefactors of this important ongoing research.

DSG strongly encourages their members to participate in the DS-Connect registry. As Amy points out, “If we can populate the registry, researchers will be more likely to focus on Down syndrome research and a cohort will be ready when clinical trials come to fruition.” After families contribute health information, researchers can use that information to identify similarities, differences, and trends among people with Down syndrome. This can lead to exciting new developments in cognition and medical research to benefit those living with the condition.

We feel very fortunate to count the Down Syndrome Guild of Kansas City and Amy Allison as LuMind supporters and partners as we jointly work to improve the lives of those who have Down syndrome.

Thank you Amy Allison and the DSG for 360 support of our mission – through generous donations, helping to raise awareness of the need for cognition research and integral resources such as DS-Connect, as well as encouraging other DSAs to join our cause.

DS-Connect® Challenge a Huge Success – Thank You!

In honor of Down Syndrome Awareness Month in October, we asked you to help complete the circle on research by registering with Ds-Connect® or spreading the word about the importance of the registry. When we began working with NIH, who runs the registry, to develop the scope of the challenge, we learned that 100 people joining during one month was a big jump for the registry. We decided to aim high and picked 125 as our target number. Then we added a $100 per person challenge offered by one of our co-founders to be doubled if we hit 125.

And boy did you rise to the challenge. 

By the time the calendar flipped to November, 226 people joined the registry in the month of October! We exceeded the goal by more than 100 people! THANK YOU!

And since more than 125 people joined, the founder’s donation to LuMind Foundation was doubled so we received a donation of $200 per person. That’s $45,200 for research, plus the data you’ve supplied to help unlock the mysteries of Down syndrome.

We also want to thank our friends – supporters and affiliate groups who helped spread the word about the challenge on social media, at Buddy Walks and with emails. We want to especially acknowledge the International Mosaic Down Syndrome Association (IMDSA) who held a research retreat for all families with a Down syndrome member (not just a mosaic diagnosis). Their retreat on October 3-5 jump started the campaign with more than 30 people registering that weekend.

THANK YOU EVERYONE!!!!!!

Dr. Harpold Announced as Chair, DS-Connect® Governance Board

A longtime participant in the DS Consortium and DS-Connect® Registry Governance Board, LuMind Foundation’s Dr. Harpold will lead the Board overseeing DS-Connect® as the registry moves into its second year.

Dr. Michael Harpold, chief scientific officer at LuMind Foundation, has accepted an invitation from the National Institutes of Health (NIH) to serve as Chair of the Registry Governance Board for DS-Connect®.

Dr. Harpold has been serving as an active representative on the Down Syndrome Consortium, the private-public partnership that worked with the NIH to create DS-Connect®, the Down syndrome registry launched by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) last year. DS-Connect® is a health data registry for people living with a diagnosis of Down syndrome (DS). Dr. Harpold has also been serving as an inaugural member of the DS-Connect® Governance Board.

“Dr. Harpold’s commitment to research in Down syndrome and his contributions to the registry have had a major impact on its success. We are very pleased to have him serve as chair of the DS-Connect Governance Board,” said Dr. Melissa Parisi of NICHD, who serves as director of the registry and Chair of the Down Syndrome Consortium.

Dr. Harpold succeeds Dr. Yvonne Maddox, who served as Deputy Director of the NICHD until her recent appointment to serve as Acting Director of the National Institute on Minority Health and Health Disparities by the NIH Director.

“I am very honored to be asked to serve as the new chair of the DS-Connect® Governance Board and to continue working together with my distinguished fellow Governance Board colleagues, those on the DS-Connect® Operations Board and NICHD as DS-Connect® expands offerings, including launching a Professional Portal for approved researchers, clinicians and health practitioners to access aggregate de-identified data as well as design, develop and undertake important new research and clinical studies,” said Dr.Harpold. “I especially thank Dr. Yvonne Maddox for all of her tireless efforts in making DS-Connect® a reality, and her dedicated leadership as the inaugural chair of the DS-Connect® Governance Board. DS-Connect® represents a long-needed and incredibly important resource for researchers, clinicians and all of the Down syndrome community.”

“Dr. Harpold is a recognized leader in the Down syndrome research community,” said LuMind Foundation Executive Director Carolyn Cronin. “His experience, expertise and willingness to collaborate and connect with researchers, individuals with Down syndrome and families with a loved one with Down syndrome are all valuable assets to our organization and the greater Down syndrome community.”

DS-Connect® is designed to connect its registered participants with information about the larger Ds community, including providing people with Ds and their family members with important knowledge about medical and demographic information, new research findings and treatments and opportunities for participating in new research studies and clinical trials. All the data is kept secure and confidential and registrants have direct control over their information and if or how often they are notified of research opportunities. DS-Connect® currently has more than 2200 people registered.

DS Consortium: Collaborate to Innovate

Since the founding of LuMind Foundation a decade ago, the researchers receiving foundation grants are encouraged to share findings with others in their discipline and other important fields. That condition is based on the belief that collaborating yields better and faster research breakthroughs.

In that same spirit, LuMind Foundation is proud to be part of the DS Consortium, a public-private partnership between the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and a set of stakeholders interested in Down syndrome research.

“We all talk informally, but creation of the DS Consortium helped us come together to exchange information and work collaboratively on identifying and then developing approaches to issues of critical importance to the Down syndrome research effort,” said LuMind Foundation’s Chief Scientific Officer Dr. Michael Harpold. “When we collaborate as a group we can significantly facilitate and advance innovative ideas, research, and relationships. More can be accomplished with increased and focused interaction to benefit children and adults with Down syndrome.”

Through the initiative of Dr. Yvonne Maddox, then Deputy Director of the NICHD, the DS Consortium was kicked off in September 2011. As a long-time member of the Down syndrome research community, Dr. Harpold attended the inaugural meeting along with other research foundations, national advocacy groups, self-advocate representation, and medical and governmental organizations – all with an interest in Down syndrome research.

“The consortium fosters collaboration and discussion to improve outcomes for people and families with Down syndrome,” explained Dr. Melissa Parisi, Chief of the Intellectual and Developmental Disabilities Branch of the NICHD, the National Institutes of Health (NIH) division primarily tasked with Down syndrome research. “There was much discussion about the need for a patient registry in the group. NIH, together with the consortium, created a registry resource to connect the Down syndrome community with the researchers.”

That registry, DS-Connect™, now confidentially and securely holds basic medical and demographic information for more than 2000 people with Down syndrome. That data can then be utilized, with permission of the participants, to offer opportunities to join in clinical studies and trials. The de-identified information is being made available to the Down syndrome community, researchers and clinicians to provide insight to many medical concerns specific to people with Down syndrome.

Another Consortium goal was to design an updated NIH research agenda for Down syndrome. NIH, together with input from the Consortium members, developed the updated the NIH DS Research Plan for Down Syndrome and issued a draft report for public review in 2014.

“A major product of the Consortium so far has been involvement with the updated DS Research Plan,” said Dr. Parisi. “In the past we had a generic theme of ‘Living with Down Syndrome,’ but thanks to the insight from Dr. Harpold and others we added a module on “Down Syndrome and Aging” in direct response to those comments and received valuable feedback from the families.” The Down Syndrome and Aging section addresses the need for additional research areas as an individual with Down syndrome ages, particularly with respect to early onset Alzheimer’s disease.

“The consortium reflects a growing partnership,” added Dr. Sujata Bardhan, a Scientific Program Manager with the NICHD. “We are seeing huge benefits to other consortium members and the NIH through the Consortium.  We are all reaping its benefits.”

Dr. Harpold says collaboration in the research world is critical because when researchers and clinicians work together to understand and answer complex questions, a small discovery in one location can lead to a bigger one elsewhere. The spirit of collaboration is key in the laboratory and also in the meetings of the Consortium. Some of the organizations in the DS Consortium provide overlapping services, but they don’t view themselves as competitors. Dr. Harpold says the collaboration enhances everyone’s effectiveness.

“We all participate in the DS Consortium because we believe in collaboration, not in unproductive competition. We have a common goal: to improve the health outcomes for people with Down syndrome,” said Dr. Harpold.

Learn more about the DS Consortium including seeing a list of all the member organizations, by visiting the NIH website.

NIH Launches Down Syndrome Patient Registry

Connecting Families and Individuals with DS to Researchers

We’re gratified and excited to pass along the news that the NIH has launched its national registry specifically for people with Down syndrome, DS-Connect. This centralized information clearinghouse has been created to facilitate communication among families, researchers, clinicians, and patient groups, and will be crucial, says DSRTF’s Chief Scientific Officer Dr. Michael Harpold, to facilitating and supporting new clinical studies and trials for the benefit of people with DS. We look forward to the enhanced information sharing it will allow, and we thank the NIH for its continued service to the DS community. Visit DS-Connect now!

Ds Connect: Down Syndrome Registry Aims to Connect Families and Individuals with Ds to Researchers

DS Connect is a secure centralized information clearinghouse funded and launched by NIH. It is a resource for communication among families, researchers, clinicians, and patient groups, and will be an essential tool in supporting new clinical studies and trials to benefit people with Ds. To learn more about the registry, download DS-Connect’s informational flyer or visit DS-Connect now.

NIH establishes Down syndrome patient registry

Directly from NIH – A registry connects individuals with Down syndrome with researchers. Read more on the NIH website.
October 26, 2012