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.

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.

Study Title: The Human Trisome Project and Hearing and Down Syndrome Research Study

Researchers:

· Dr. Joaquín M. Espinosa – Human Trisome Project

· Dr. Gabrielle Merchant – Hearing and Down Syndrome Research Study

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.

Dr. Gabrielle Merchant is affiliated with Boys Town National Research Hospital and specializes in hearing and balance health in individuals with Down syndrome, with a focus on improving diagnostic evaluation and long-term outcomes.

Study Description:

Families participating in the Hearing and Down Syndrome Research Study will also be dual enrolled in the Human Trisome Project. The main purpose of this collaborative work is to improve hearing and balance health outcomes for individuals with Down syndrome across the lifespan. Participants receive full behavioral hearing and vestibular evaluations performed by clinical audiologists, and families are provided with a report at the end of the visit that can be shared with their healthcare providers.

As part of the Human Trisome Project, participants will also complete a blood draw that contributes to biologic characterization and omics research conducted through the Crnic Institute. This deep phenotyping work helps researchers identify potential connections between hearing and balance characteristics and the biologic composition of individuals with Down syndrome. Participants will also complete a short survey that allows us to collect information on any co-occurring conditions.

Participant Eligibility:

· Individuals with a diagnosis of Down syndrome between the ages of 5-65.

· Individual with Down syndrome does not wear cochlear implants.

· *Participants must be accompanied by a study partner.

What Will Be Collected:

• · Behavioral hearing and vestibular evaluations.
• · Blood draw through the Human Trisome Project
• · Short survey through the Human Trisome Project.

Hearing and Down Syndrome Research Study appointments typically last about 2 hours. The Human Trisome Project research visit with a blood draw will occur separately from the hearing appointment during the R&R weekend and typically lasts around 30 minutes.

Compensation:

· Cash compensation for completion of Hearing and Down Syndrome Research Study.

· $100 e-gift card for completion of the Human Trisome Project blood draw and survey

Additional Information:

Families will use the registration ink on this page: https://www.signupgenius.com/go/20F0E48A4AE23A5F49-57754745-boys#/

Transportation: The shuttle will be available to take families to and from the IMDSA conference location to where the Boys Town Research Vehicle (BTRV) is where the hearing and balance testing will take place (approximately 6 minutes away from the conference hotel). Families will also receive a summary report of hearing and balance evaluation results following participation.

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.