Browse by Medical Category
To schedule an appointment, call:
Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder characterized by intellectual disability, developmental delay, breathing problems, seizures, and distinctive facial features.
The Pitt Hopkins Clinic at MassGeneral Hospital for Children provides comprehensive clinical care to individuals with Pitt Hopkins. With the ultimate goal of improving quality of life for our patients, the clinic delivers "one-stop-shopping" access to a wide range of specialists who work together to evaluate and treat the most common problems encountered in Pitt Hopkins Syndrome.
Multiple specialists at the clinic see children and young adults with Pitt Hopkins in a coordinated visit and we follow our patients over years with the goal of improving their day-to-day lives and providing treatment long-term health issues.
At your child’s first visit to the clinic, he or she will be seen by Co-Directors David Sweetser, MD, PhD, and Ron Thibert, DO, MsPH, for an in-depth assessment including physical and behavioral examinations. Drs. Sweetser and Thibert will coordinate clinic visits with other specialists as needed, including doctors from gastroenterology and nutrition, pulmonary medicine, neuropsychology and/or psychiatry.
Specialists in the clinic treat the full range of conditions associated with Pitt Hopkins, including:
Faculty from the Pitt Hopkins Clinic are working with researcher Stephen J. Haggarty, PhD, at Mass General to better understand the mechanisms of Pitt Hopkins Syndrome and other genetic disorders. Dr. Haggarty’s long-term goal is to translate this knowledge into the discovery of novel targeted therapeutics for the treatment and prevention of neuropsychiatric disorders. Learn more.
Sofia is one of an estimated 500 children in the world diagnosed with Pitt Hopkins syndrome, a genetic disorder that affects development, speech and intellect. This little girl, although tiny in size, is proving she is capable of big things despite her rare diagnosis.
MassGeneral Hospital for Children will soon open the world’s first Pitt Hopkins Syndrome Clinic. Made possible by a generous donation from parents of two young women with Pitt Hopkins Syndrome, the clinic will focus on providing knowledge-based medical care and serving the comprehensive medical needs of individuals with the disease.
Pitt Hopkins Clinic
Yawkey Center for Outpatient Care
For correspondence/recordsMarcie SteevesClinic Coordinator175 Cambridge St, Suite 500Boston, MA 02114Phone: 617-726-1562Fax: 617-724-1911
Back to Top