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Rady Children's Specialists

Neurology

Angelman Syndrome Clinic

Rady Children’s has partnered with the Angelman Syndrome Foundation to establish the fourth Angelman Syndrome Clinic open in the United States. The clinic serves Angelman syndrome patients from birth through young adulthood at Rady Children’s, providing comprehensive care for medical, developmental and behavioral needs. We have also identified physicians at UC San Diego in the adult neurology and orthopedics divisions to provide consultative care for adults with Angelman syndrome.

Our multidisciplinary team includes a clinical geneticist, neurologist, orthopedic surgeon, developmental psychologist, board-certified behavior analyst, gastroenterologist, clinical dietitian and speech therapist (all with extensive experience with Angelman syndrome).

The team’s clinical expertise is complemented by extensive research experience. We can connect patients with research opportunities such as the Angelman Syndrome Natural History Study as well as clinical trials. Rady Children’s is currently a site for a clinical trial on gaboxadol to treat Angelman syndrome in adults and adolescents.

Team

Mark Nespeca, M.D., Clinical Director, Pediatric Neurologist/Epileptologist and Angelman Syndrome Researcher, Rady Children’s

Vanessa Aldas, R.D., M.P.H., Clinical Dietitian and Epilepsy Diet Therapy Specialist, Rady Children’s

Ayala Ben-Tal, Ph.D., Developmental Psychologist and Angelman Syndrome Researcher, Rady Children’s

Lynne M. Bird, M.D., Clinical Geneticist and Principal Investigator, Angelman Syndrome Natural History Study and STAR Trial of Gabaxidol in Angelman Syndrome Teens/Adults, Rady Children’s

Rochelle Calvert, Ph.D., BDBA-D, Psychologist and Behavior Therapist, New Mindful Life, San Diego (Private Practice)

Hank Chambers, M.D., Orthopedic Surgeon and Director, Cerebral Palsy Center, Rady Children’s

Rebecca Cherry, M.D., Gastroenterologist

Catherine Dabasinskas, M.A, Speech Communication Disorders Specialist, Rady Children’s

Abbey Hye, M.A., BCBA Behavior Therapist, Rady Children’s

Leena Kansal, M.D., Adult Neurologist/Epileptologist, UC San Diego Neurosciences

David Lee, M.D., Ph.D, Adult Neurologist/Epileptologist, UC San Diego Neurosciences

About Angelman Syndrome

Angelman syndrome is a complex neurogenetic disorder that primarily affects the nervous system. Signs and symptoms include delayed development (noticeable by the age of 6 to 12 months), intellectual disability, severe speech impairment and problems with movement and balance (ataxia). Most affected individuals also have recurrent seizures (epilepsy). Gastrointestinal problems, orthopedic challenges, and behavior and sleep issues are common. The condition requires lifelong care.

Resources

For more information and resources, visit the Angelman Syndrome Foundation at https://angelman.org.

Contact Us

To make or facilitate appointments, please call Marlene Uriarte at 858-966-6459. Visits will occur on Mondays and Tuesdays during two weeks of nearly every upcoming month, with ketogenic diet appointments available on Wednesdays.

In the News

Angelman Syndrome Treatment Market Expansion Projected to Gain an Uptick During 2018 to 2028The Newsman, mentions Rady Children’s Hospital–San Diego