UNC to Open Comprehensive Angelman Syndrome Clinic

February 3, 2012 marks the grand opening of the UNC Comprehensive Angelman Syndrome Clinic at the Carolina Institute for Developmental Disabilities (CIDD).

Funded in part by the Angelman Syndrome Foundation, this new clinic brings together multiple subspecialists into one setting to address the complex medical and psycho-educational needs of individuals with Angelman syndrome and their families.

Depending on the specific concerns, patients and their families have access to a clinical geneticist, neurologist, psychiatrist, psychologist, speech language pathologist, physical/occupational therapist, genetic counselor, social worker, and nutritionist.

“This is one of the few clinics in the nation dedicated to Angelman Syndrome, but is unique in including all of the above disciplines, making it a ‘one-stop-shop’ for these complex cases,” said CIDD director, Joseph Piven, MD, Sarah Graham Kenan Professor of Psychiatry at UNC. “The CIDD is committed to doing research and linking research with clinical practice to bring the best care to our patients.”

Related to autism and occurring in one in 15,000 live births, Angelman Syndrome characteristics include absence or near absence of speech throughout the person’s life, intellectual and developmental delay, severe intellectual disability, seizures, sleep disturbance, motor and balance disorders. Individuals with the syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand flapping. No effective therapies exist for AS to date.

During clinic visits, individuals with AS and their families will consult with experts from all subspecialties. Direct assessment will be conducted when appropriate and a treatment/intervention plan will be developed.

Angelman Syndrome is a neurogenetic disorder first described by English Physician Harry Angelman in 1965. The condition was considered to be extremely rare - indeed many physicians doubted its existence - until the 1980s when a deletion on the maternal 15th chromosome was discovered to be the cause of Angelman Syndrome in a majority of cases.

Today, the Angelman Syndrome Foundation is aware of approximately 1,000 cases in the United States, but thousands more are believed to exist throughout the world, as yet undiagnosed.

Classic features of Angelman Syndrome include a stiff jerky gait; severe developmental delay; absent speech; happy demeanor; hypopigmented skin; a protruding tongue; and seizures. Children with Angelman Syndrome are also reported to display a fascination with water and plastic, and many experience sleep disturbances.

Collaboration and direct consultation with primary care physicians and other allied health professionals in the patient’s medical home will be conducted when needed to assist in streamlining services.

In addition to these interdisciplinary services, the clinic will provide a foundation for clinical research collaboration and training opportunities for the next generation of clinicians and researchers in the field of neurodevelopmental disabilities.