Research Study: Longitudinal study on Mosaic Down Syndrome

Researcher: Colleen Jackson-Cook, PhD

 Study Description

The goal of this research is to better understand the health and development problems people with

mosaic Down syndrome or Down syndrome might experience. 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; or age 5 and 20, etc). We are especially interested in collecting new specimens and

data from people who have previously participated in our study.

 What will I do if I participate in this new longitudinal (follow-up over time) study?

1. Discuss questions/concerns you may have

2. Have your face, hands, and appearance reviewed by a genetics doctor

3. Complete a health and lifestyle questionnaire about you/your child

4. Provide photos of you/your child from infancy to their current age

5. Decide if you want to include your/your child’s data/specimens in a research repository and/or registry.

6. Have the inside of both cheeks rubbed with a toothbrush

7. Have blood collected (about 2 ½ tablespoons)

We expect that it will take about 45 minutes to complete the activities for this study. You can elect to

participate at an IMDSA Research and Retreat conference or participate remotely. If you are interested in joining,

we can discuss how the remote or on-site specimen collection processes work.

 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

 How can I learn more about this study?

If you would like to learn more about this research project, you can contact Dr. Jackson-Cook via email or by

phone. She would be happy to tell you more about the project. She will also provide information about the study

at the IMDSA annual retreat.

Email: colleen.jackson-cook@vcuhealth.org

Sign Up Here: https://www.signupgenius.com/go/4090548ADAA2CABFD0-63923205-imdsa?useFullSite=true#/#/

Research Study: Executive Function Skills of Individuals with Mosaic Down Syndrome

Researcher: Susan Loveall is an associate professor at the University of Nebraska in Lincoln, NE. 

What are you trying to learn?  The Learning Lab at the University of Nebraska – Lincoln is conducting a study to learn more about the executive function skills of individuals with mosaic Down syndrome. Participants will complete iPad and easel measures of executive function and cognition. Participants or their caregivers will also be asked to complete questionnaires about the use of executive function and adaptive functioning skills in everyday life. 

Participant criteria/eligibility requirements: To participate, individuals must be 5-40 years of age with mosaic Down syndrome and able to complete the study in English. If participants are under 19 years of age or have a legally authorized guardian, a caregiver must be willing to complete questionnaires. 

What will I receive from participating in this study? Participants receive up to $50 in gift cards for participating.

Questions? Contact us at learninglab@unl.edu 

sign up at: https://www.signupgenius.com/go/10C044AABA92EA6FFC52-64008641-executive#/

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Research Study:  DS360 Project and Down Syndrome Cognition Project (DSCP): 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.  

What will I receive from participating in this study?

Families may receive gift cards: $25 for the phone interview, up to $30 for biological samples, and $25 for online questionnaires.

Sign up at: https://www.signupgenius.com/go/409094DA8AF2FA13-64491992-emory#/

Research Study: Project HOPE: Down syndrome Parent Perspectives Survey

Researcher: Ruth Brown, PhD, Virginia Commonwealth University

What are you trying to learn? Ruth Brown, PhD, is a Licensed Clinical Psychologist, and an Assistant Professor at the Virginia Institute for Psychiatric and Behavioral Genetics at Virginia Commonwealth University. She has partnered with the IMDSA to conduct research on mental health since 2013. Her research aims to improve detection, prevention, and treatment of stress, anxiety, and depression in people with Down syndrome and intellectual and developmental disabilities.

• Participant criteria/eligibility requirements: Parents or legal guardians in the United States of a person with Down syndrome (including mosaic Down syndrome) aged 10-30. 

What will I receive from participating in this study?

• $25 gift certificate mailed to US home address. 

• Any additional details you’d like families to know before signing up: Study involves an online survey that takes about 30-60 minutes. During the research appointment, we will review the consent form and answer any questions. The survey can be completed at that time or on your own.

Looking to connect or sign here:  https://www.signupgenius.com/go/70A0C4EACA72FA3FC1-64464886-project

Study Title: The Human Trisome Project Research Study

Researchers:

· Dr. Joaquín M. Espinosa – Human Trisome Project

Researcher Bios:

Dr. Joaquín M. Espinosa is the executive director of the Linda Crnic Institute for Down Syndrome at the University of Colorado Anschutz and leads the Human Trisome Project, a large-scale research initiative focused on improving understanding of Down syndrome across the lifespan.

Study Description:

"The Human Trisome Project (HTP) aims to significantly increase the speed of Down syndrome research and the understanding of its co-occurring conditions from congenital heart defects to cognitive dysfunction. Designed to be the largest and most comprehensive study of its kind, the HTP will help us understand why individuals with Down syndrome (caused by trisomy of chromosome 21) are protected from some medical conditions, such as cancer, while highly predisposed to others, such as Alzheimer's disease and autoimmune disorders.

Participant Eligibility:

·if you are a person with Down syndrome between six months and 89 years old, you can participate. Already participated? We'd love to see you again!"

Intrested?

If you are interested in participating, please contact the study team at dsresearch@cuanschutz.edu. Blood draws will be coordinated with Dr. Jackson-Cook's study.

Participants will enroll in the Human Trisome Project Biobank, which allows researchers to use banked samples and clinical information to help us understand why individuals with Down syndrome and are protected from certain conditions but pre-disposed to others. If you participate, you would agree to allow access to your medical records, complete a health survey, and give a blood sample and tongue swab.

Participants will have to complete the Human Trisome Project research visit/blood draw at the same time as any of the other blood draws they will get at the IMDSA R&R.