Thank you for expressing interest in participating in research at the 2025 IMDSA R&R Weekend in Niagara Falls, Ontario, Canada
We are excited to have many of our returning researchers join us this year. Below you will find a description of each researcher's project. All research is optional and at no cost to you. When you meet with each researcher, the researcher will further explain the research as well as review an Informed Consent Form with you. In order to participate, you must sign the consent form. However, even if you sign the consent form, you can always choose not to participate further. Some researchers will be collecting blood and buccal (inside of mouth) samples; these are optional to you however should you choose to participate; you must have the consent form signed and present this to the lab technician in order to have samples taken.
Research will take place Friday June 20th and Saturday June 21st. You will be able to register for research appointments upon arrival to the IMDSA R&R Weekend.
To sign up for research appointments, please be on the lookout for a follow-up confirmation email shortly after completing the research participation registration form. That email will contain a link to SignUpGenius where you can schedule your research appointments at the times that best fit your family’s schedule. The link is located at the bottom of the email.
Please do not hesitate to contact IMDSA should you have any questions or concerns; we look forward to seeing you soon!
*NOTE - This registration form will be shared with the researchers! *
RESEARCHERS
Colleen Jackson-Cook, PhD
Email: colleen.jackson-cook@vcuhealth.org
The goal of this research study is to better understand Down syndrome and mosaic Down syndrome and the health and development problems people with mosaic Down syndrome or Down syndrome might experience, with a focus on changes that occur from infancy to adulthood. In this study, we will compare biological patterns and health traits from people of different ages. We will also compare patterns from the same person over time (for example, at age 1 and age 5, etc).
What will I do if I participate in this study?
- Discuss questions/concerns you may have.
- Have your face, hands, and appearance reviewed by genetics doctor.
- Complete a health and lifestyle questionnaire about you/your child.
- Provide photos of you/your child from infancy to their current age
- Decide if you want to include your child’s data/specimens in a research repository and/or registry.
- Have the inside of both cheeks rubbed with a toothbrush.
- Have blood collected (about 2 ½ tablespoons)
We expect that the session will take about 30 minutes to complete. The blood specimen will be collected at this conference by a person who is trained to work with people who have mosaic Down syndrome. The cheek specimen will also be completed at the conference.
What will I receive from participating in this study?
- 1. A report of the percentage of trisomic cells present in the specimens you provide (blood and/or cheek)
- 2. A $30 gift card
We anticipate meeting with people for this study on Friday, July 28 (3:30pm – 8pm) and Saturday, July 29th (8am - 5pm), but times may be adjusted based on the conference schedule needs.
This research project is supported by the Eunice Kennedy Shriver National Institute of Child Health & Human Development of the National Institutes of Health under Award Number R01HD111943.
Dr. Ruth Brown:
Phone: 804-828-8126
Email: ruth.brown@vcuhealth.org
Web: http://tiny.cc/LEAF_DS_VCU
Researchers at Virginia Commonwealth University are conducting an online study to develop better assessments of emotional health concerns in people with Down syndrome and mosaic Down syndrome.
You may be eligible to participate if:
You are a person with Down syndrome or mosaic Down syndrome between the ages of 12 – 45 years old, you are the parent of a person with Down syndrome aged 12 – 45,
We are recruiting participants WITH mental health concerns AND WITHOUT mental health concerns.
STUDY DETAILS
WHO CAN PARTICIPATE?
Parents with a child with Down Syndrome who is aged 12 - 45
People with Down Syndrome, aged 12 - 45
Adults with Down syndrome who sign their own medical or legal documents are welcome to invite a parent or legal guardian to participate with them or they may choose to participate on their own. Children under the age of 18 or adults with Down syndrome who have a legal guardian must have a parent or legal guardian participate with them. If the child or adult with Down syndrome is unable to participate, a parent can participate alone.
WHAT’S INVOLVED?
Online Surveys
- Parents and/or person with Down syndrome are asked to answer several standardized questionnaires about emotions and behaviors. Surveys take about 30 minutes to 1 hour.
- Emotional Health Interview
- An online interview with the parent and/or person with Down syndrome about symptoms like anxiety or depression. The interview takes approximately 1 hour to complete.
- DNA Cheek Swab
- The person with Down syndrome will be asked for a DNA sample using a painless cheek swab sent through the mail.
Compensation
Children and adults with Down syndrome may receive $15
and parents may receive $10 for participation.
PARTICIPATE ONLINE
Participate from the comfort of your own home! The online surveys are self-paced and can be completed any time, and we will schedule the online emotional health interview at a time convenient for you.
Participate Online at: http://tiny.cc/LEAF_DS_VCU
This study is funded by the National Institute of Child Health and Human Development under the title “Depression, Stress, and Down Syndrome: A Multimethod Approach to Assessment and is being conducted by Ruth Brown, PhD, Virginia Commonwealth University, 800 E. Leigh St., Richmond, VA 23219
Susan Loveall
Email: sloveall-hague2@unl.edu
Frances Conners
Email: fconners@ua.edu
The University of Alabama and the University of Nebraska are conducting a study on reading skills in individuals with Down syndrome, and we are looking for adolescent and young adults with Down syndrome to participate! With your help, we can better understand reading abilities, including both strengths and weaknesses, in this population.
This study is looking for individuals with Down syndrome or mosaic Down syndrome ages 9-18 years old. Participants will complete reading, language, and cognitive assessments. This will be broken up across two 1.5-2 hour sessions at the conference. Also, parents/primary caregivers will complete a background questionnaire. Families will earn a $40 gift card for participating.
This study is funded by National Institutes of Health grant R15HD096456.
Research Study: This is a nationwide research study, based at Emory University. The goal is to study all clinical conditions that occur in each unique individual. This information will help answer why some individuals have more serious medical outcomes due to the extra chromosome 21.
Researcher: Tracie Rosser, PhD, Project Director, Emory University School of Medicine
What are you trying to learn?
We combine information from interview questions, medical records, and laboratory data to:
• Understand what causes the extra chromosome 21 to be present
• Identify why some children with Down syndrome are more likely than others to have certain medical problems.
What does the study involve?
• A 45-minute interview with mom on health-related topics
• Permission for medical record review to note medical problems related to Down syndrome.
• LATER: A blood or saliva sample on parents and their child with Down syndrome to obtain DNA for study.
For participants between the ages of 6-40:
· We will ask you to complete several written or online questionnaires that ask about the everyday skills and behavior of the participant with Down syndrome.
