Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. PTHS is characterized by intellectual disability and developmental delay which range from moderate to severe, possible breathing problems of episodic hyperventilation and/or breath-holding while awake (55%-60%), recurrent seizures/epilepsy (40%-50%), gastrointestinal issues, and distinctive facial features. Children with Pitt-Hopkins syndrome typically have a happy, excitable demeanor with frequent smiling and laughter. PTHS was first described by D. Pitt and I. Hopkins in the Australian Pediatric Journal in 1978. The connection to TCF4 was not established until 2007 when it was found to play an essential role in the development of the nervous system and the brain. Any functional deficiency of TCF4 greatly affects how a child develops over time. Definition and statistics from the National Institutes of Health Gene Reviews article on Pitt Hopkins Syndrome: http://www.ncbi.nlm.nih.gov/books/NBK100240/
Overall prevalence of PTHS is unknown. However, one laboratory estimated that the frequency of chromosome 18q21 deletions and mutations associated with PTHS is between 1 in 34,000 and 1 in 41,000. An estimate from another researcher is 1 in 200,000-300,000. Researchers will need recognize individuals with PTHS in all age groups first and molecular analyses should be more widely available too, before this estimate is more accurate. A blood test needs to be available for approximately 10 years to get a better picture of incidence and it is only a little more than half way through this period at this time. PTHS occurs in both males and females and is not limited to a specific ethnic background.
A positive perspective–
Collective knowledge shared by PTHS families around the world, conveys that our children are creative, vibrant, joyful people continuing to learn over time, loved by their families, and who seem to bring happiness to everyone who knows them. This is truly a message of hope that we aspire to spread around the world.