Pitt–Hopkins syndrome

Common card · No. 269289

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...

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