Thank you for expressing interest in participating in research at the 2023 IMDSA R&R Weekend in San Diego, CA!
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 July 28 and Saturday July 29. You will be able to register for research appointments upon arrival to the IMDSA R&R Weekend.
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! *
Jonathan Santoro, MD
The Children’s Hospital Los Angeles (CHLA) Neurology program and Dr. Jonathan Santoro are looking to enroll young persons (age 8-26 years) with Down syndrome into a biometric study. Participation only takes about 10-15 minutes and includes getting a weight, blood pressure, height, neck circumference and head circumference. There is no blood draw and is a lot of fun for participants. Demographic data (including information about medical history) will be requested as well. This information will be used to set normal ranges for biometrics in persons with Down syndrome. Some eligible local patients to Southern California may be asked to participate in the second half of the study which involves an ultrasound of the brain which does not require sedation or anesthesia and will take place at CHLA after the conference. This research will be used to find non-invasive ways of screening for stroke in persons with Down syndrome before the symptoms occur and would happen after the program in San Diego.
Colleen Jackson-Cook, PhD
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:
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.
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.
- 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.
Children and adults with Down syndrome may receive $15
and parents may receive $10 for participation.
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
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.
Linda Crnic Institute for Down Syndrome Research
Research to Develop the Human Trisome Project Biobank;
Ages: ages 6 - 89
Appointment length: 45 minutes
This study plans to learn more about Down syndrome and other medical conditions that are more likely to affect people with Down syndrome. The investigators want to make it easier to learn about the symptoms, causes, and long-term changes in Down syndrome and other co-occurring conditions. This will be done by collecting health data and biological samples, such as blood and DNA for use by approved research projects. Skin samples are done by using a toothbrush to rub the top of tongue. (All are optional.)
A goal of this project is to increase the speed at which research on Down syndrome and associated co-morbidities can be done and minimize the burden on patients by allowing them to sign tiered consent that will allow researchers to use their biological samples for different research projects in the future. Interested researchers will access the samples by applying to a review board consisting of staff from the Linda Crnic Institute, the Sie Center for Down Syndrome, and experts on research ethics and experts on Down syndrome.