What is Pitt Hopkins?

Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. PTHS is characterized by developmental delay, possible breathing problems of episodic hyperventilation and/or breath-holding while awake, recurrent seizures/epilepsy, gastrointestinal issues, lack of speech, and distinctive facial features. As we learn more about Pitt Hopkins, the developmental spectrum of the disorder is widening, and can also include difficulties with anxiety and ADHD, and sensory disorders. PTHS has traditionally been associated with severe cognitive impairment, however true intelligence is difficult to measure given our children’s motor and speech difficulties (Source Pitt Hopkins Research Foundation).