Rett Syndrome Program

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Leslie KhwajaIn our Rett Syndrome Program at Boston Children’s Hospital, we are dedicated to helping children and adults who have Rett syndrome and related conditions develop to their full potential.

The symptoms of Rett syndrome often can be helped with specialized medical care and behavioral and rehabilitative therapies. We bring together a team of physicians and therapists from various fields who have expertise and experience in caring for children with Rett syndrome, and together we provide continuous, close care for our patients.

Our aim is to work with your child and family to choose the best combination of therapies and medication to manage your child’s symptoms and to help her learn and develop.

We are optimistic about recent scientific developments about Rett syndrome, and our program is collaborating with researchers to translate their discoveries into meaningful treatments for our patients.

Our expertise

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Our Rett Syndrome Program at Boston Children’s Hospital is the only specialist Rett syndrome program in New England. We care for more than 250 patients who have Rett syndrome and related disorders.

Diagnosing your child’s condition

Our specialists are leaders in evaluating and diagnosing children with Rett syndrome and related conditions. Children’s has played a key role in revising clinical criteria of Rett syndrome. We also have extensive diagnostic testing capabilities, including:

  • genetic testing in the Children’s DNA diagnostic laboratory

  • neurophysiological testing

  • brain imaging

These tests can help us distinguish Rett syndrome from other neurological and developmental disorders that may have similar symptoms.

We also specialize in diagnosing and treating children with atypical or variant Rett syndrome and related disorders. While the vast majority of children with Rett syndrome are girls, boys can have related disorders, and we care for a number of boys in our Rett Syndrome Program.
 

Specialized treatment

The physical symptoms of Rett syndrome, such as seizures, gastrointestinal problems and musculoskeletal problems, can often be alleviated and managed. And various forms of behavioral and rehabilitative therapy are extremely effective in helping children learn and develop.

Our program brings together Boston Children’s physicians and therapists who are experienced in caring for children with Rett syndrome. Their specialties include:

  • Augmentative Communication
  • Cardiology
  • Dentistry
  • Developmental pediatrics
  • Endocrinology
  • Gastroenterology
  • Genetics
  • Gynecology
  • Neurology
  • Neuropsychology
  • Nutrition
  • Orthopedics
  • Physiatry
  • Psychiatry
  • Pulmonology
  • Sleep medicine

You can learn more about the specialists on our team on the Meet our team tab.

We work closely with occupational and physical therapists, social workers and a nursing team to create the best possible treatment plan for your child. Our goal is to achieve the optimum health and well-being in our patients so that they can reach their maximum potential.

An important part of our program is helping our patients access resources that will help them learn. We offer specialized neuropsychological testing to identify your child’s individual learning skills, which is helpful in finding the right educational setting for her.
 

Our advisors

We view our program as a partnership between parents and clinicians. Our Parent Advisory Group plays an important role in the program. See the Patient Resources tab to learn more about that group.

We work extensively with researchers studying the biology of Rett syndrome, and we are collaborating with these scientists to develop new treatments. You can learn more about our research on the Research and Innovation tab.

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New Director: Walter Kaufmann, MD

Walter KaufmannWe’re excited to welcome neurologist Walter Kaufmann, MD, as director of the Rett Syndrome Program. In addition to seeing patients, Dr. Kaufmann studies the causes of cognitive and behavioral problems in children with Rett syndrome and other genetic disorders linked to intellectual disability and autism. He has led many laboratory investigations, clinical studies and drug trials of targeted therapies for these disorders, including a new phase 2 trial of IGF-1 for Rett syndrome. He is founder and chair of the international RettSearch consortium.


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This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

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