Mayo Clinic and the Angelman Syndrome Foundation (ASF) celebrate the opening of Mayo Clinic’s Angelman Syndrome Clinic, one of only three Angelman syndrome-specific clinics in the country. The facility, established by Mayo Clinic with support from the ASF, focuses on serving the comprehensive medical needs of individuals with Angelman syndrome. With the creation of the clinic, individuals with Angelman syndrome and their families can access multiple subspecialists and a variety of medical resources in one setting, as opposed to visiting multiple locations across the nation. The Angelman Syndrome Clinic leverages the variety of expertise and specialized care available at Mayo Clinic to help individuals with Angelman syndrome from infancy through adulthood.
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.
Mayo Clinic’s mission is to inspire hope and contribute to health and well-being by providing the best care for each patient through integrated clinical practice, education, and research. “We provide each patient and family with a team of experts using integrated case management to conduct a complete evaluation of the patient’s condition, for which a treatment plan is then developed and tailored to each patient’s needs. We are thrilled to provide this very specialized care for individuals with Angelman syndrome and their families with the help of ASF,” said Ralitza Gavrilova, M.D., a Mayo Clinic neurologist and geneticist who will lead the effort.
With the goal of improving quality of life for individuals with Angelman syndrome, Mayo Clinic provides seamless access to a care team of pediatric and adult specialists in the following areas: clinical genomics, epilepsy, sleep medicine, psychiatry, speech pathology, clinical nutrition, orthopedics, neuropsychiatry, gastroenterology, physical medicine, rehabilitation, and social work. Upon arrival at Mayo Clinic, patients first meet with Clinic Director Dr. Gavrilova, and one of the Clinic Co-Coordinators, Sarah Mets or Marine Murphree, who are both certified genetic counselors. A review of past medical history, a comprehensive family history is conducted and discussion of a care plan occurs, followed by several days of consultations and testing with specialists who are all experts in Angelman syndrome. At the completion of the visit, a summary meeting occurs with the genetic counselor, who offers recommendations for the patient’s local health care providers.
“Our foundation has focused its mission on providing tangible, accessible support for individuals with Angelman syndrome and their families, and this clinic is another representation of that and further delivers on our promise of helping open a total of 17 clinics across the country during the next few years,” said Eileen Braun, executive director of the ASF and mother to a young woman with Angelman syndrome. “To have the exceptional team and vast medical resources available at Mayo Clinic accessible to our families is tremendous, and we could not be more proud to support the Mayo Clinic to bring the Angelman Syndrome Clinic to life to help our families when they need it most.”
For more information about testing for Angelman Syndrome, view our testing algorithm for the laboratory approach to diagnosis of Angelman Syndrome: