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The Angelman Syndrome Program at MassGeneral Hospital for Children, in partnership with the Angelman Syndrome Foundation, aims to provide comprehensive clinical care to individuals with Angelman syndrome. With the ultimate goal of improving quality of life for individuals with Angelman syndrome, the clinic provides “one-stop-shopping” access to a wide range of specialists who work together to evaluate and treat the most common problems encountered in Angelman syndrome.
The clinic includes specialists in epilepsy, sleep, gastroenterology and nutrition, neuropsychology, psychiatry and genetics.
The program offers a full range of diagnostic tests including inpatient electroencephalography (EEG) monitoring, as well as a broad range of treatment options including dietary therapy and vagus nerve stimulation (VNS).
The program also provides family support including guidance through transitions at age 18 and 22 and, if necessary, residential placement upon reaching adulthood. Other subspecialty referrals can be made to providers in adult medicine at Massachusetts General Hospital and in the community as needed.
Between 2006 and the formal clinic opening in 2012, over 70 individuals with Angelman syndrome were seen at MassGeneral Hospital for Children, with an emphasis on the diagnosis and treatment of seizures. To date, over 150 families have been seen in the clinic from around the US as well as Canada, Europe and South America.
Ronald Thibert, DO, MsPH is a pediatric epileptologist in the Pediatric Epilepsy Program at MGHfC and the Lurie Center for Autism, specializing in the treatment of children with difficult to control seizures. He has a special interest in children with autistic spectrum disorders, especially those with Angelman syndrome and duplications of chromosome 15q (Dup15q). He is the director of both the Angelman syndrome clinic and the Dup15q Center at MGHfC and the Lurie Center and the majority of his clinical research focuses on the treatment of seizures in these 2 genetic disorders.
Angelman Syndrome Clinic
Clinic visits on Mondays and Fridays take place at the Yawkey Center for Outpatient Care, suite 6B.
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