Pitt-Hopkins syndrome

Pitt-Hopkins syndrome (PTHS) is a genetic syndrome that causes developmental delays, moderate to severe intellectual disability, behavioral differences, distinctive facial features, and breathing problems such as episodes of rapid breathing (hyperventilation) and breath-holding. Other features may include symptoms of autism spectrum disorder, sleep disturbances, seizures, constipation, nearsightedness, and minor skeletal abnormalities.

PTHS is caused by a mutation in the TCF4 gene, or by a loss (deletion) of the part of chromosome 18 that contains the TCF4 gene. Inheritance is autosomal dominant, but PTHS typically is not inherited from a parent, occurring sporadically due to a new mutation in people with no family history of PTHS. The diagnosis may be suspected based on signs and symptoms and can be confirmed with genetic testing.

There is no cure for PTHS, but there are ways to manage or improve many of the signs and symptoms. Management may include early intervention services for infants and young children, an individualized education plan for school-aged children, behavioral therapy, and routine treatment of seizures, nearsightedness, constipation, and skeletal abnormalities.

Pitt-Hopkins syndrome is a non-progressive course. To learn more about how individuals with Pitt-Hopkins syndrome have fared, you can join a community message board or online support group where you can interact with other families affected by this condition. Four such groups are listed below.

The NORD Rare Disease Support Community has a message board for Pitt-Hopkins syndrome at the following link:
http://www.inspire.com/groups/rare-disease-and-genetic- conditions/discussion/pitt-hopkins-syndrome/

MakingContact.org, a group which links families with disabled children, has a page for individuals with Pitt-Hopkins syndrome at the following link:
http://www.makingcontact.org/index.php?ci=1280

RareShare, a social hub for patients, families, and healthcare professonals affected by rare diseases, has a page for Pitt-Hopkins syndrome at the following link:
http://www.rareshare.org/communities/pitt-hopkins-syndrome

Pitt-Hopkins Support Group has been created to bring together the ideas, thoughts, and hopes of people caring for loved ones with Pitt Hopkins Syndrome. You can access their web page at the following link:
https://groups.google.com/forum/#!forum/pitt-hopkins

There is no cure for Pitt-Hopkins syndrome (PTHS), but there are ways to manage or improve signs and symptoms. Treatment depends on the specific symptoms and severity in each person and ideally is managed by a team of specialists with knowledge of PTHS. Treatment may involve:

• Early intervention services for infants and young children, which may include occupational, physical, speech and feeding therapies.
• An individualized education plan (IEP) for preschool and school-aged children.
• Behavioral therapies - children may benefit from treatments for autism spectrum disorder (such as applied behavioral analysis, or ABA) or medications.
• Consideration of medication for significant breathing problems. Some individuals with PTHS have reported improvement of breathing problems with antiepileptic drugs or acetazolamide.
• Routine treatment of seizures, nearsightedness, constipation, and orthopedic problems.
• The use of durable medical equipment (such as wheelchairs, walkers, and adaptive strollers) as needed.

Children with PTHS should continue to have developmental assessments as their needs change with age. Regular appointments with an ophthalmologist are recommended to monitor and manage vision changes and other eye conditions. Periodic evaluations with a genetics professional are also recommended, as new information about the course of PTHS and treatment options may become available.

The Pitt Hopkins Research Foundation provides information about Pitt-Hopkins syndrome.