Pitt Hopkins Clinic

Overview

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.

Conditions Treated

Specialists in the clinic treat the full range of conditions associated with Pitt Hopkins, including:

• Seizures
• Sleep disturbance
• Gastrointestinal problems including dismotility/constipation
• Developmental delays, autistic spectrum disorder and intellectual disability
• Pulmonary issues – episodic hyperventilation and/or breath-holding
• Behavioral disorders and psychiatric disease

Research

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 about Dr. Haggarty's research.

More Information About Pitt Hopkins Syndrome

• GeneReviews® from the U.S. National Library of Medicine: Pitt Hopkins Syndrome by David A Sweetser, MD, PhD, Ibrahim Elsharkawi, MD, Lael Yonker, MD, Marcie Steeves, MS, CGC, Kimberly Parkin, and Ronald Thibert, DO, MsPH.
• Pitt Hopkins syndrome from the Genetics Home Reference, U.S. National Library of Medicine
• NORD - National Organization for Rare Disorders