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Pitt-Hopkins Syndrome
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Pitt-Hopkins Syndrome
By : Kasha Bogdal & Lauren Krohn
What Is It?
What Is Pitt-Hopkins Syndrome ?
A condition characterized by appealing or engaging type of disability and developmental delay which can range from moderate to severe .
How Does It Affect Someone?
This syndrome can cause trouble with breathing , may have seizures and distinctive facial features. Most affected individuals do not learn how to walk without assistance . Also they may never develop speech ; if so they will only be able to say few words .
What Is Pitt-Hopkins Inherited Through ?
PTS is inherited through a autosomal dominate pattern , which means one copy of the altered gene is all that's needed to cause PTS. Most cases come from new mutations without any history or signs of disorder in the family .
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What Causes Pitt-Hopkins Syndrome ?
This syndrome is caused by heterezygous de novo mutations in Tcf4 gene or deletion in the 18th chromosone which is found in everyone but mostly affects mutiple birth .
Fun Facts :
Sources :
- Children with Pitt-Hopkins Syndrome typically have a happy , excitable demeanor with frequent smiling and laughter .
- PTHS was described by D. Pitt and I. Hopkins in the Australian Pediatric Journal in 1978 .
- The connection of TCF4 was not yet established until 2007 .
- Other names for pitt- hopkins are : PTHS & PHS
www.orpha.net
www.cnsfoundation.org/educate/disorder
www.ghr.nlm.nih.gov/.../pitt-hopkinssyndrome
www.nature.com/pitt-hopkinssyndrome
www.pitt-hopkins.org
www.nvbi.nlm.nih.gov/books/NBK10240/
BOOKS :
Pitt-Hopkins Syndrome
Syndromes To Know
How ?
How Are They Treating Pitt-Hopkins Syndrome ?
This syndrome is treated by a medical team specializing in the care of children with cognitive or motor impairment , including physical therapist and specialist that treat epilepsy . They have also started foundations .
How Long Is Their Life Expectancy ?
They may seem to have a normal life if they eat like they are supposed to and maintain an healthy weight . But if that does not happen they may live to be in their 50's
How Common Is Pitt-Hopkins ?
This syndrome is known to be a rare condition . At least 500 affected individuals have been reported worldwide in the past year. The amount of individuals are smaller. Most people are affected by a more severe version which includes seizures and may sooner turn into the syndrome called epilepsy .