Angelman Syndrome Program
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.
- Lurie Center for Autism Home
Meet the Team
- Ronald Thibert, DO, MsPH
- Elizabeth A. Thiele, MD, PhD
- Amy Morgan, MD
- Peter Newberry, MD
- Kenneth Sassower, MD
Pediatric Sleep Medicine
- Heidi Pfeifer
Clinical Deititian Specialist
- Janette Lawrence
Certified Genetic Counselor
- Leigh Horne-Mebel
- Meghan Parrish
Clinical Nurse Specialist
- Patricia Bruno
Clinical Nurse Specialist
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.
Angelman Syndrome is a genetic disorder that affects 1 in 15000 live births. It is caused by an alteration of the UBE3A gene located on Chromosome 15q. Individuals with Angelman syndrome are characterized by developmental delay, movement and/or balance disorder, limited speech, and distinctive behavior. Epilepsy is common in Angelman syndrome, affecting over 80% of individuals. Other common issues present in up to 80% of individuals with Angelman syndrome include sleep disorders, GI dysfunction and behavioral dysregulation.
- There are 5 different genetic causes of Angelman syndrome:
- Maternal deletions of chromosome 15q11-q13 (68%). These tend to have the most severe symptoms
- UBE3A mutataions (12%)
- Uniparental disomy (UPD) – inheritance of 2 paternal copies of chromosome 15. (7%)
- Imprinting Center defects (3%)
- Clinical diagnosis – clinical criteria met but genetic testing negative. (<10%)
Angelman Syndrome Foundation
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 Clinic175 Cambridge Street, suite 340
Boston, MA 02114
Public Transportation Access: yes
Disabled Access: yes
Clinic visits on Mondays and Fridays take place at the Yawkey Center for Outpatient Care, suite 6B.