Pitt-Hopkins Syndrome (PTHS)

What is Pitt-Hopkins syndrome (PTHS)?

Pitt-Hopkins syndrome is a genetic condition that affects brain and nervous system development. It causes developmental and intellectual disabilities. People with PTHS typically have changes to the structure of their face and experience seizures and trouble breathing.

Is Pitt-Hopkins syndrome a form of autism?

PTHS isn’t autism. But children with Pitt-Hopkins syndrome have many of the same characteristics as people with autism spectrum disorder.

Who does Pitt-Hopkins syndrome affect?

Pitt-Hopkins syndrome can affect anyone. Symptoms typically begin in childhood.

How common is Pitt-Hopkins syndrome?

Pitt-Hopkins syndrome is a rare genetic disorder. Researchers know of about 500 people in the world who have this condition.

How does Pitt-Hopkins syndrome affect my child?

Besides physical symptoms, children with Pitt-Hopkins syndrome typically have:

• Developmental delays.
• Inability to speak or limited language development.
• Intellectual impairments.
• Limited social skills.

What are the symptoms of Pitt-Hopkins syndrome?

Pitt-Hopkins syndrome causes changes to a child’s development. They may experience delays in learning to walk and have difficulties with speech and communication skills.

Children with PTHS usually have differences in the shape of their facial features. They may also experience:

• Constipation.
• Epilepsy.
• Hypotonia.
• Microcephaly.
• Myopia (nearsightedness).
• Strabismus (crossed eyes).
• Trouble with breathing and respiratory system problems.

What causes Pitt-Hopkins syndrome?

A change (mutation) to the TCF4 gene causes PTHS. TCF4 controls proteins that affect how your brain and nervous system develop.

A child has a 50% chance of inheriting this genetic change if one parent also has the mutation (known as an autosomal dominant pattern). But a mutation to TCF4 can happen even if neither parent has the mutation (known as a de novo occurrence).

How do healthcare providers diagnose Pitt-Hopkins syndrome?

You or your healthcare provider may notice differences in your newborn’s appearance. Your provider may see PTHS symptoms during a well-baby visit or well-child visit as your child grows. They may recommend tests to confirm PTHS.

What tests do healthcare providers use to diagnose Pitt-Hopkins syndrome?

Your healthcare provider may recommend genetic testing for your child. Providers may draw a sample of your child’s blood or swab the inside of their cheek to take a DNA sample. A genetic specialist examines this sample to learn if there is a TCF4 mutation.

If your child experiences seizures, your provider may recommend:

• Electroencephalogram (EEG).
• MRI of their brain.

How do healthcare providers treat Pitt-Hopkins syndrome?

Pitt-Hopkins syndrome isn’t curable. But healthcare providers can treat the symptoms of PTHS. Talk with your provider about whether your child may benefit from the care of a:

• Gastroenterologist (digestive system specialist).
• Neurologist.
• Ophthalmologist.
• Pulmonologist.

Your child’s care team can put together a treatment plan that targets your child’s symptoms, including constipation, vision trouble and breathing problems. Your child may need frequent follow-up appointments so providers can modify the treatments as your child’s symptoms change.

How can I prevent Pitt-Hopkins syndrome?

Pitt-Hopkins syndrome occurs because of a genetic change. There isn’t anything you can do to prevent this change. Talk with your healthcare provider if you or your partner has a family history of PTHS or other genetic disorders.

How do I know if my child is at risk for Pitt-Hopkins syndrome?

If you’re considering pregnancy and either you or your partner have a family history of genetic disorders, talk with your healthcare provider. Preconception counseling may be right for you.

What can I expect if my child has Pitt-Hopkins syndrome?

Children with Pitt-Hopkins syndrome typically need specialized medical care and educational services. Your healthcare provider may recommend:

• Occupational therapy.
• Physical therapy.
• Speech therapy.

What is the prognosis for children with Pitt-Hopkins syndrome?

Life expectancy for children with Pitt-Hopkins syndrome varies. Some children with PTHS live to adulthood. Ask your healthcare provider how you can help your child live a healthy life.

How do I take care of my child with Pitt-Hopkins syndrome?

Talk to your healthcare provider about your child’s health and educational needs. Certain therapies or augmentative and alternative communication (AAC) devices may help your child communicate. Your provider can connect you with resources to learn about individualized education plans and resources for your child.

When should my child with Pitt-Hopkins syndrome see their healthcare provider?

Regular healthcare helps keep your child healthy. Talk to your provider about how often your child should see healthcare specialists. Let your provider know about any new symptoms your child develops.

How does Pitt-Hopkins syndrome affect my child’s behavior?

Many children with Pitt-Hopkins syndrome are happy and social. They may smile and laugh often, sometimes spontaneously. They may flap their hands frequently or rock back and forth.

Some children with PTHS are anxious or shy. Let your healthcare provider know if you have any concerns about changes in your child’s behavior.

A note from Cleveland Clinic

Hearing your child has a rare genetic disorder like Pitt-Hopkins syndrome can be intimidating for a new parent, but with specialty care and therapy your child can live a healthy life. Your healthcare provider might suggest visiting a genetic counselor who’s an expert in genetics. They can provide emotional support to help you better understand the diagnosis and walk you through the steps you can take to support your child so they can live a healthy and fulfilling life.