About the Rett Syndrome Clinic

Rett syndrome is a neurodevelopmental disorder that affects a child’s brain development and cognitive ability. Over time, it can cause severe problems with language and communication, lack of coordination and muscle control, involuntary hand movements, and slowed growth.

At the Rett Syndrome Clinic at Children’s Hospital of Philadelphia, we are dedicated to providing comprehensive, multidisciplinary care to address the multi-systemic medical needs of individuals with Rett syndrome and related neurodevelopmental disorders throughout their lifespan. Our clinic has been named both a clinical and research Center of Excellence.

What to expect

At your child’s first appointment at the clinic, a physician or nurse practitioner will take a thorough history of your child’s symptoms and other medical conditions.

After meeting with you and your child, we may recommend one or more tests to confirm the diagnosis and establish a treatment plan. The tests your child may undergo include:

  • Genetic testing to confirm the diagnosis
  • EEG testing for children with epilepsy or concern for seizures
  • EKG screening for girls with Rett syndrome (who are at risk for prolonged QT interval)
  • Specialized GI tests such as swallow studies or endoscopy

Although there are no specific treatments for Rett syndrome, based on the results of your child’s evaluation, our Clinic team may suggest a variety of treatment recommendations, including:

  • Outpatient physical and occupational therapy
  • Nutrition management
  • Tone management options for children with spasticity
  • Medications to treat other symptoms, including seizures, sleep disturbances or other behavioral concerns

Our team can also help address equipment needs, in collaboration with our seating clinic and rehabilitation medicine team, and we work closely with our speech therapists and augmentative and alternative communication (AAC) clinic to maximize a child’s communication skills.

Our genetic counselor can help families understand their child’s genetic testing results or to coordinate additional testing to confirm a diagnosis if needed. We also have a dedicated social work team to help families navigate the complexities of raising a child with a lifelong neurodevelopmental disorder.