Pitt–Hopkins syndrome
Medical condition / From Wikipedia, the free encyclopedia
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Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea.[1] Pitt–Hopkins syndrome can be marked by intellectual disabilities as well as problems with socializing.[2] It is part of the clinical spectrum of Rett-like syndromes.[3]
Pitt–Hopkins syndrome | |
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Boy with Pitt–Hopkins syndrome showing the characteristic facial features. A censorship bar was added to keep the subject's identity private | |
Specialty | Psychiatry, Medical genetics |
As more is learned about Pitt–Hopkins, the developmental spectrum of the disorder is widening, and can also include difficulties with anxiety, autism,[4] ADHD, and sensory disorders. It is associated with an abnormality within chromosome 18 which causes insufficient expression of the TCF4 gene.[5] Those with PTHS have reported high rates of self-injury and aggressive behaviors usually related to autism and their sensory disorders.[2]
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. Researchers have developed cell and rodent models to test therapies for Pitt–Hopkins.[6]
PTHS is estimated to occur in 1:11,000 to 1:41,000 people.[7]