How can my child and I become involved in furthering our understanding of Down syndrome?
One of the ways experts learn more about Down syndrome is through research of individuals with the condition. These research opportunities are voluntary for families, and their purpose is to provide information that helps professionals set goals, objectives and policy, as well impact the future of individuals with Down syndrome. Below are various ways you and your child with Down syndrome can get involved in a research project or study.
What is DS-Connect™: The Down Syndrome Registry?
The National Institutes of Health-supported Down Syndrome Registry, DS-Connect™, will allow people with Down syndrome and their family members, researchers, and parent and support groups to share information and health history in a safe, confidential, online database. Users will be able to create and edit their customizable online profiles, share their profiles with other DS-Connect™ users, and set reminders for medical care and other appointments and events. DS-Connect™ will also provide access to general information about Down syndrome, as well as de-identified statistical data based on user responses to survey questions.
Who can access DS-Connect™?
Those with Down syndrome and their families will need to provide their consent for the Registry before they can create their password-protected profiles. If a user gives permission to be contacted, then clinicians and researchers who are authorized will contact these individuals to see if they are interested in participating in research studies. The Registry will comply with all regulations and laws governing privacy, personally identifiable information, and health data.
Why do we need DS-Connect™?
Creating a national registry was a primary recommendation of the 2007 NIH Down Syndrome Research Plan, which helped set goals and objectives for the Down syndrome research field. The development of DS-Connect™ was also supported by the Down Syndrome Consortium, a public-private partnership established in 2011 to further the exchange of information on Down syndrome research and to implement and update the Research Plan.
The goal of this Genetic Counseling Master’s Thesis Project is to reevaluate the informational needs of parents receiving a diagnosis of Down syndrome in their child. Our initial study was conducted by Katie Berrier Sheets in 2009, and these data were used to help establish the National Society of Genetic Counselors Down Syndrome Practice Guidelines in 2011. We expect the essential information given at the time of a diagnosis has changed over the last several years due to advancements in testing, increasing numbers of college programs, and other opportunities.
We aim to assess perspectives of genetic counselors and parents again in this present study. Survey questions include questions about your child’s diagnosis, rating informational items presented during diagnosis disclosure, free response questions, and demographic information questions. Your involvement is extremely valuable to healthcare professionals involved in distributing information and resources and those involved in the care of individuals with Down syndrome and their families.
Participation involves completing an online survey. The online survey will be available until December 30th, 2019 at midnight, and it will be made available through Qualtrics. The survey will take approximately 15-20 minutes to complete. You may access the survey at https://uofsc.co1.qualtrics.com/jfe/form/SV_5hGOU3kgPA2zqcJ.
Participation is voluntary. Your consent to participate is given by completing and submitting the online survey. You many choose not to complete the survey and may exit at any time. All responses will be anonymous, and in no way will be identifiable or linked back to you. If you have any questions regarding your rights as a participant in this project, you may contact the University of South Carolina Office of Research Compliance at 803-777-7095.
If you have questions or difficulty accessing the online survey, please reach out to Margaret Wilkes, the primary investigator, at firstname.lastname@example.org or at 704-995-0912. Thank you for your participation.
The goal for the Down Syndrome Clinical Trials Network (DS-CTN) is to carry out clinical trials more rapidly with the readiness of clinical sites and the availability of ready-to-enroll participants with Down syndrome. This is important, because several promising interventions to improve health and independence for individuals with Down syndrome are ready to enter clinical trials in the next 5 years that will require hundreds of participants in each.