Image of Dr. David Sweetser with a Pitt Hopkins patient

Pitt Hopkins Clinic

The Pitt Hopkins Clinic at MassGeneral Hospital for Children provides comprehensive clinical care to individuals with Pitt Hopkins.

To schedule an appointment, call: 617-726-1562

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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.

More Information

Meet the Team

Co-Directors

Other Doctors

Genetic Counselor/Clinic Coordinator

Nurse

  • Amanda Tourjee, RN
  • Katrina Styles, BSN, RN, CPN

Research

  • Steve Haggarty, PhD

Clinical Research Coordinator

  • Kimberly Parkin, BS, CRC

News

  • Small, but mighty: Sofia conquers her world amid rare diagnosis - 5/30/2018, Mass General

    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.

  • New MGHfC clinic offers treatment for rare disorder - 2/2/2015, Mass General

    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.

Contact

Contact Us

Pitt Hopkins Clinic

Yawkey Center for Outpatient Care

Suite 6C32 Fruit Street Boston, MA 02114
  • Near Public Transit
  • Accessible
  • Phone: 617-726-1562
  • Fax: 617-724-1911

For correspondence/recordsMarcie Steeves
Clinic Coordinator
175 Cambridge St, Suite 500
Boston, MA 02114
Phone: 617-726-1562
Fax: 617-724-1911

To schedule an appointment, call: 617-726-1562

Frequently Asked Questions Make a gift

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