World Down Syndrome Day (WDSD) is a global awareness day which has been officially observed by the United Nations since 2012. WDSD falls on Mar. 21, or more specifically, the 21st day of the third month, to signify the third copy, or trisomy, of the 21st chromosome which causes Down syndrome (DS) during fetal development. DS is the most prevalent chromosomal cause of intellectual disability and occurs in an average of 1 out of every 700 births.
Down syndrome is a year-round focus at the Vanderbilt Kennedy Center (VKC) and Vanderbilt University Medical Center (VUMC).
“We are thrilled about the growing number of research program, training opportunities and projects about Down syndrome at the Vanderbilt Kennedy Center, VUMC, and Vanderbilt University,” said VKC UCEDD director Elise McMillan, J.D. “As the parent of an adult son with Down syndrome, our family knows the importance of this work.”
Here are a few of the programs and services available to families with Down syndrome in Tennessee and surrounding states.
Trial-Ready Cohort — Down Syndrome
VKC researcher Paul Newhouse, M.D., serves as principal investigator of the ongoing Trial-Ready Cohort – Down Syndrome (TRC-DS), which is working to identify adults with DS who may be eligible for a future medication study with the goal of reducing their risk for the development of Alzheimer’s disease. This study is being conducted by the Alzheimer’s Clinical Trials Consortium – Down Syndrome (ACTC-DS) through a grant from the National Institute of Aging (NIA).
Older adults with Down syndrome have an elevated risk of developing Alzheimer’s disease. Newhouse is continually recruiting eligible adults with DS over the age of 25 without memory loss to participate in the trial-ready cohort (meaning, there is no treatment in this trial; it is observational in nature). Compensation is provided for study visits.
To learn more, visit the study website at vumc.org/ccm/trcds.
Down Syndrome Research Registry
The Vanderbilt Down Syndrome Research Registry serves to connect adults and children with Down syndrome living anywhere in the United States to researchers at Vanderbilt. The registry collects a short health survey along with contact information so investigators at Vanderbilt can contact individuals for studies they may be eligible for.
“Individuals with intellectual and developmental disabilities are often excluded from research, which can lead to reduced quality of healthcare and unknown treatment effectiveness for this population,” said research analyst Kasey Fitzpatrick. “We want this registry to promote inclusivity in research by making the recruitment of these individuals easier. So far, we have successfully helped multiple projects at Vanderbilt, including Kennedy Center investigators Stephen Camarata, Ph.D., and Sarika Peters, Ph.D. The National Institutes of Health fund this registry as well as their larger national registry, DS Connect. We encourage families to join both with the hope that their participation may lead to new discoveries within healthcare for people with Down syndrome.”
Learn more about the Vanderbilt Down Syndrome Registry at https://redcap.link/DSRegistry.
Down Syndrome Clinic
The Down Syndrome Clinic at Monroe Carell Jr. Children’s Hospital at Vanderbilt takes a holistic approach to caring for children and teens with Down syndrome. The clinic, led by VKC member Angie Maxwell-Horn, M.D., and Vanderbilt Consortium LEND associate director Rachel Goode, M.D., is facilitated by an interprofessional team of specialists who collaborate to provide care in a patient- and family-centered environment.
Patients with DS are referred to the clinic by their primary care provider. At the first visit, most patients meet with a physician or nurse practitioner, nutritionist, speech/feeding specialist, physical therapist, and occupational therapist. After the initial visit, children may be referred to other specialists in the Down Syndrome Program, including ophthalmology, neurology, cardiology, and gastroenterology, among others. Additionally, the DS Clinic can assist patients in accessing necessary services of social work, physical therapy, occupational therapy, speech and language therapy, nutrition counseling, educational/behavioral counseling, and audiology.
For more information, call (615) 343-3696 (DOWN) or (800) 866-3696 (DOWN), or visit the Down Syndrome Clinic website.
Participate in Down Syndrome Research
Opportunities to participate in Down syndrome research conducted by VKC researchers can be found on the DS StudyFinder page. Another option is ResearchMatch, a nonprofit program funded by the National Institutes of Health (NIH) that helps to connect people interested in research studies with researchers from top medical centers across the U.S., including VUMC. Create a profile and learn more at researchmatch.org/.
Participate in World Down Syndrome Day Activities
The Down Syndrome Association of Middle Tennessee (DSAMT) is a partner with the VKC on a number of projects. DSAMT is planning several WDSD activities for families in the Middle Tennessee area. Check out their calendar at somethingextra.org.
One event in particular is a Caregiver Workshop on Apr. 5 titled “Brain Health and Aging with Down Syndrome: Alzheimer’s Disease and the Importance of Research.” This presentation will be led by VKC researcher Alex Conley, Ph.D., and held at the DSAMT office. This workshop is free, but advance registration is required, and space is limited. Click here to learn more.
For more information on World Down Syndrome Day, including ways to take action in your community, visit worlddownsyndromeday.org.
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