Pitt Hopkins Syndrome (PTHS) is a rare genetic condition that causes moderate-to-severe intellectual disability and developmental delays, breathing problems, gastrointestinal issues, and recurrent seizures. Mutations in the TCF4 gene cause Pitt-Hopkins syndrome.
- Infants with Pitt-Hopkins syndrome may have diminished muscle tone (hypotonia) and appear abnormally “floppy.” Hypotonia can affect feeding and impact motor skills such as walking. Children who can walk may have an unsteady manner of walking with a wide gait. They may exhibit a lack of coordination (ataxia) and be clumsy.
- Delayed developmental milestones
- Speech delay
- Moderate to severe intellectual disability.
- Infants and children typically have distinctive facial features
- Children with Pitt-Hopkins syndrome can have irregular or abnormal breathing patterns.
- Affected children are described as sociable and having a happy disposition, frequently laughing and smiling. Laughter may occur spontaneously or at inappropriate times. However, some children may be quiet or withdrawn into their own world (self-absorption) and have difficulties engaging socially.
- Children with Pitt-Hopkins syndrome also exhibit stereotypic hand movements, which include hand clapping, hand flapping, flicking hands, hand washing, fingers crossing, and frequent hand-to-mouth movements. Head shaking, head banging, body rocking, teeth grinding (bruxism) and hair pulling may also be seen. Children may repeatedly and repetitively play with a toy and may show a fascination with one specific part of a toy.
Treatment is directed toward the specific symptoms that are apparent in each individual and generally requires a team of specialists.