Pitt Hopkins Syndrome

Pitt Hopkins Syndrome

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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. Approximately 500 PTHS patients have been identified worldwide, but there are many who remain undiagnosed.

Children’s Health is home to one of only two clinics in the world devoted specifically to the diagnosis and comprehensive treatment of children with this condition. The Pitt Hopkins Clinic provides coordinated care through a multi-disciplinary team of specialists in genetics, neurology, psychology, gastroenterology, and pulmonology in order to help improve the health and quality of life of children with this condition.

Children with diagnosed or suspected PTHS will initially see our neurologist, Dr. Sailaja Golla, director of the Pitt Hopkins Clinic, who will determine each patient’s need for referral to the specialists listed above. Her initial neurologic assessment takes approximately one hour.

The clinic is supported by the Pitt Hopkins Research Foundation and operates as part of the Center for Autism and Developmental Disabilities (CADD) at Children’s Health.

Children with PTHS may suffer from developmental delays, limited speech, low muscle tone, extreme breathing problems, seizures, gastrointestinal issues, and autistic or hyperactive behaviors. They usually have distinctive facial features, and many struggle with limited mobility.

Our Services

The Pitt Hopkins Clinic serves the comprehensive needs of children with PTHS by:

  • Coordinating patient care – as needed – with a clinical geneticist, psychologist, gastroenterologist, pulmonologist, epileptologist, and other specialists after the initial neurological evaluation.
  • Providing resources such as behavioral, physical, occupational, and speech therapies to improve health and quality of life.
  • Counseling parents about seizures and first aid.
  • Discussing appropriate educational placement and resources.
  • Connecting families with support groups and resources, including the Pitt Hopkins Foundation, through an in-house social worker.

The mission of the Pitt Hopkins Clinic is to improve quality of life and provide treatments – based on the most recent research – to children with this rare disease. Non-neurological testing for Pitt Hopkins-related complications will be performed outside the clinic, but within Children’s Health.

Symptoms

Symptoms

Symptoms of Pitt Hopkins Syndrome can include:

  • Abnormal craniofacial features including a small head circumference; a receding forehead; broad nose; a broad, cupid-shaped mouth; and prominent ears.
  • Low muscle tone which can affect feeding in infancy and motor development later, including difficulty with walking and balance.
  • Breathing problems including periods of fast breathing followed by no breathing that slows or stops. Typically, children with this condition exhibit no breathing problems when they are asleep.
  • Constipation and other gastrointestinal problems.
  • Seizures including recurrent seizures that can be present from birth.
  • Behavioral issues ranging from hyperactivity to aggression.
  • Developmental problems including delayed development of mental and motor skills which impairs communication and socialization.
Tests & Diagnosis

Tests & Diagnosis

To diagnose Pitt Hopkins Syndrome, your child’s doctor will do a detailed physical examination which may include the following tests:

  • Neurological testing – These tests help to determine how well your child’s muscles, nerves and senses are developing.
  • Electroencephalogram (EEG) – is a non-invasive method to record electrical activity of the brain along the scalp. EEG measures voltage fluctuations resulting from ionic current flows within the neurons of the brain. EEG is most often used to diagnose epilepsy, which causes abnormalities in EEG readings. An EEG is performed by placing electrodes on the scalp and recording the electrical activity of the brain.
  • Magnetic Resonance Imaging (MRI) – This test uses a magnetic field to produce a more detailed picture of the brain than can be done with an EEG or a CT scan. Your child will lie on a table inside the tunnel of the MRI machine. Many children experience claustrophobia when placed inside the scanner, so the acting clinician may give your child a mild sedative before scanning.
  • Genetic testing – By studying a small amount of your child’s blood, a geneticist can look for the TCF4 gene mutations that are responsible for Pitt Hopkins Syndrome.
Treatments

Treatments

Treatment for Pitt Hopkins Syndrome is focused on managing the symptoms of the condition. Once tests are complete, a plan will be created for your child that may include:

  • Medication to prevent  seizures, ease breathing and constipation.
  • Diet to better manage constipation and other gastrointestinal issues.
  • Physical, occupational and behavioral therapy to enhance physical development, communication, and social skills.
Research/Resources

Research

The Pitt Hopkins Clinic is collecting a natural history – documentation of the course the condition takes in each individual patient – to further research efforts focused on PTHS. Because this is a rare syndrome, with no current cure, collecting this natural history and collaborating with researchers across the globe will offer new insights into treatment.

Dr. Craig Powell, a neurologist at the University of Texas Southwestern Medical Center, is currently conducting Pitt Hopkins Syndrome research in conjunction with the National Institutes of Health (NIH) and researchers at the only other Pitt Hopkins Syndrome Clinic, located at Mass General Hospital for Children in Boston.

Children’s Health offers genetic testing for mutations in the TCF4 gene, the cause of Pitt Hopkins Syndrome, in its onsite lab.

Resources

FAQs

FAQs

What causes Pitt Hopkins Syndrome?

Pitt Hopkins Syndrome (PTHS) is a rare genetic condition that typically is not an inherited condition.

What treatments are available?

Treatment for Pitt Hopkins Syndrome is focused on managing the symptoms of the condition. Treatments can include medication, diet, physical, occupational and behavioral therapy.

How do I make an appointment at the Pitt Hopkins Clinic?

You should have your primary care doctor fax us the referral, including any clinical and school records for your child. Once we have the referral from your doctor, please call to schedule an appointment for your child.

Phone - (214) 648-0102
Fax - (214) 867-5389

Where can I find a support group?

We will provide you with resources to help both you and your child. The Resources link on this webpage is also a good source for more information about Pitt Hopkins Syndrome and support groups.

Newly Diagnosed

 

In the News

In the News

DALLAS (May 12, 2015) – Children’s Health℠ announced today the opening of the second Pitt Hopkins Syndrome (PTHS) clinic in the nation. PTHS is a rare genetic condition affecting a specific gene in chromosome 18, called TCF4. PTHS is characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. Click here to read more.

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