Down syndrome research and services at the Waisman Center

March 21 is World Down Syndrome Day, designated on this date to signify the cause of Down syndrome—the presence of a third 21st chromosome (3/21). Approximately one in every 691 babies is born with Down syndrome each year with more than 400,000 individuals in the United States affected by the most commonly occurring chromosomal condition.

To increase awareness and knowledge about Down syndrome, the Waisman Center will host its annual community outreach event, Day with the Experts: Down Syndrome to coincide with World Down Syndrome Day.  Attendees will learn about the latest advances in research and clinical services and hear from a panel of experts—individuals with Down syndrome and family members.

The Waisman Center encompasses a wide range of programs, both research and clinical, related to Down syndrome, with a goal to better understand the biological underpinnings as well as provide resources and services to individuals with Down syndrome and their families.

Current Research

Anita Bhattacharyya, PhD, engages in basic biological research using Down syndrome-specific stem cells to study the development of the cerebral cortex and how it is altered in Down syndrome.

Brad Christian, PhD, leads a study using neuroimaging techniques (MRI and PET scanning) to evaluate the degree of amyloid deposits in the brains of adults with Down syndrome. This information was correlated with the results of psychological testing done by Sigan Hartley, PhD, to better understand the aging process in this population.

Houri Vorperian, PhD, studies how the oral and pharyngeal anatomy affects speech in individuals with Down syndrome and other populations. She analyzes MRI and CT scans to produce a new understanding of the special challenges faced by some people with Down syndrome in speaking, swallowing, and breathing.

Marsha R. Mailick, PhD, in collaboration with seven other sites across the United States, studies the differences and similarities in learning and problem-solving abilities among children and young adults with Down syndrome. The study focuses on identifying genetic and environmental factors that lead to the variation in cognitive functioning seen in individuals with Down syndrome.

Maria Stanley, MD, Mailick, and Ellen Wald, MD, of the UW-Madison Department of Pediatrics, collaborate in a clinical drug trial sponsored by F. Hoffmann-La Roche. This clinical study examines the effects of a new medication developed to enhance the cognitive functioning of adolescents and adults with Down syndrome. The study also looks at the learning and problem-solving abilities and adaptive skills of individuals with Down syndrome, and closely monitors their overall health and well-being while taking the medication and during follow-up.

Resources and Services

Waisman Center Clinics  608.263.3301

Children with Down syndrome are seen in the Waisman Center Genetics Clinic for diagnosis and in the Waisman Center Down Syndrome Clinic for medical management in the areas of feeding, growth, development, communication, behavior, hearing, therapy and support services.

Waisman Resource Center 800.532.321 / 608.265.8610

The Waisman Resource Center provides free and confidential information and assistance to families and care providers of children with special health care needs. The Waisman Resource Center is staffed full time by a team of professionals in the fields of social work and education, and with experience in a variety of disability-related areas.

Community Outreach for Children with Challenging Behaviors  608.265.9438

Community Training, Intervention and Evaluations Services (TIES) is an outreach program for children and adults with developmental disabilities who present various challenging behaviors, including withdrawal, aggression, and self-injury. The mission of Community TIES is to address behavioral, psychological, and emotional needs using therapeutic approaches that insure continued participation in the community. TIES provides counseling, crisis response, psychiatric consultation, parent education and support, and training for personnel and program consultation in local human service agencies. Directed by Paul White, MA, and funded by Dane County, this program maintains an active caseload of approximately 250 children and adults in Dane County.

Waisman Early Childhood Program 608.263.5760

The Waisman Early Childhood Program is a model inclusive preschool in which one-third of the enrollment is reserved for children with developmental disabilities. Since its inception in 1979, children with Down syndrome have been an integral part of the program.

Grandparents’ Network

The Grandparents’ Network provides a context for grandparents and other family members to increase their understanding of developmental disabilities, learn how other families cope with the challenge of disability, and contribute expertise, wisdom, and experience.