What is Pitt Hopkins Syndrome?
Pitt Hopkins is a rare and severe neuro-developmental disorder caused by a mutation of the TCF4 gene on the 18th chromosome. It is characterized by profound developmental delays, problems with motor coordination (ataxia) and balance, breathing abnormalities, intellectual disability and possible seizures. Most individuals with Pitt Hopkins do not develop functional speech. Pitt Hopkins affects all races and both genders equally.
Since the gene that causes Pitt Hopkins was only found in 2007, currently there are less than 300 children in the world diagnosed with this syndrome, however we believe there are many more. Because loss of TCF4 prevents neurons from functioning properly, our scientist believe that studying Pitt Hopkins will also give us important insight into other neurological disorders like Alzheimers, Autism and Epilepsy.
For more information on Pitt Hopkins please visit www.pitthopkins.org