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.
What is Pediatric Pitt Hopkins Syndrome?
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.
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.
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.
What are the signs and symptoms of Pediatric Pitt Hopkins Syndrome?
- 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.
How is Pediatric Pitt Hopkins Syndrome diagnosed?
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.
What are the causes of Pediatric Pitt Hopkins Syndrome?
Pitt Hopkins Syndrome (PTHS) is a rare genetic condition that typically is not an inherited condition.
How is Pediatric Pitt Hopkins Syndrome treated?
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.