Treatment Programs

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.

Meet the Team

Clinical Director

Our Providers

  • Elizabeth A. Thiele, MD, PhD
           Pediatric Epilepsy
  • Amy Morgan, MD
           Neuropsychology
  • Peter Newberry, MD
           Pediatric Psychiatry
  • Kenneth Sassower, MD
           Pediatric Sleep Medicine
  • Heidi Pfeifer
           Clinical Deititian Specialist
  • Janette Lawrence
           Certified Genetic Counselor
  • Leigh Horne-Mebel
           Social work/Counselor
  • 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

www.angelman.org

Research of Ronald Thibert, DO, MsPH

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

175 Cambridge Street, suite 340
Boston, MA 02114

Phone: 617-726-6540
Fax: 617-726-0230
Email: eshaaya@partners.org

Public Transportation Access: yes
Disabled Access: yes

Clinic visits on Mondays and Fridays take place at the Yawkey Center for Outpatient Care, suite 6B.

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