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New clinic focuses on patients with Angelman syndrome

Mar. 29, 2018, 10:16 AM


Vanderbilt University Medical Center and the Angelman Syndrome Foundation announced March 23 the official opening of the Angelman Syndrome Clinic at Vanderbilt, one of only five Angelman syndrome-specific clinics in the country.

Established in partnership by the two organizations, the Angelman Syndrome Clinic at Vanderbilt focuses on serving the specialized medical needs of individuals with Angelman syndrome.

Angelman syndrome patients (front row, from left) Bayleigh Roche, Hailey Rhodes and Taylor Berret, along with family members and specialists, were on hand for the opening of the new Angelman Syndrome Clinic at Vanderbilt. (photo by Steve Green)

Representatives from the Angelman Syndrome Foundation presented a $5,000 check to the clinic at a gathering of specialists and patients with Angelman syndrome and their families.

Occurring in one in 15,000 live births, Angelman syndrome is a neurogenetic disorder often misdiagnosed as autism or cerebral palsy that causes severe neurological impairment, appears in newborns and lasts for a lifetime. During fetal development, the loss of function of a particular gene in the brain occurs, resulting in neurons functioning improperly and causing deficits in development.

Individuals with Angelman syndrome experience developmental delay, lack of speech, seizures, walking and balance disorders and typically exhibit a happy demeanor characterized by frequent smiling, laughter and excitability.

With the creation of the clinic, individuals with Angelman syndrome and their caregivers can access multiple subspecialists and a variety of medical resources in one setting, as opposed to visiting multiple locations across the nation. The clinic leverages the variety of expertise and specialized care available at Vanderbilt to help individuals with Angelman syndrome from infancy through adulthood and seeks to improve the daily challenges of patients and caregivers. The clinic will also work with each patient’s medical home to ensure continuity of care.

“We want to improve the standard of living for our patients and their caregivers by using our knowledge and expertise to change lives,” said Jessica Duis, MD, MS, director of the clinic and assistant professor of Pediatrics, Division of Medical Genetics and Genomic Medicine. “Ultimately, we believe our care extends beyond the clinic. We treat our patients on a personal and individual level, and having the resources of our medical team accessible to families will hopefully positively impact their future.”

The clinic is equipped with the specialized care that individuals need: pediatric genetics and neurology, developmental medicine, sleep neurology, nutrition and speech language pathologist services. Vanderbilt’s long-term plan is to establish a center of excellence that combines medical care, education, scientific research and clinical trials to bring all available therapies to families as they become available.

“The new facility at Vanderbilt will open up tremendous opportunities for our Angelman syndrome families,” said Eileen Braun, executive director of the Angelman Syndrome Foundation and mother to a young woman with Angelman syndrome. “Overall, there are only a handful of places in the country that have specialized resources available for people with Angelman syndrome in one location.

“The team at Vanderbilt University Medical Center has vast amounts of expertise in Angelman syndrome that makes this clinic possible, and we are so thankful that this partnership will help improve the lives of so many people impacted by Angelman syndrome.”

The Angelman Syndrome Clinic at Vanderbilt is located at 2200 Children’s Way, Nashville, Tennessee, 37232. To schedule an appointment at the clinic, call 615-936-8866.

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