Pitt–Hopkins syndrome

Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, moderate to severe intellectual disability, distinctive facial features, and possible intermittent hyperventilation followed by apnea. Epilepsy (recurrent seizures) often occurs in Pitt-Hopkins. It is part of the clinical spectrum of Rett-like syndromes. Pitt-Hopkins syndrome is clinically similar to Angelman syndrome, Rett-syndrome, Mowat Wilson syndrome, and ATR-X syndrome.

As more is learned about Pitt–Hopkins, the developmental spectrum of the disorder is widening, and can also include difficulties with anxiety, autism, ADHD, and sensory disorders. It is associated with an abnormality within chromosome 18 that causes insufficient expression of the TCF4 gene. Those with PTHS have reported high rates of self-injury and aggressive behaviors usually related to autism and their sensory disorders.

PTHS has traditionally been associated with severe cognitive impairment, however true intelligence is difficult to measure given motor and speech difficulties. Thanks to augmentative communication and more progressive therapies, many individuals can achieve much more than initially thought. It has become clearer that there is a wider range of cognitive abilities in Pitt–Hopkins than reported in much of the scientific literature. No cure is known for Pitt-Hopkins syndrome, but it is possible to treat associated symptoms. Researchers have developed cell and rodent models to test therapies for Pitt–Hopkins.

PTHS is estimated to occur in 1:11,000 to 1:41,000 people.