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Rett Syndrome in Children

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    NEW RETT SYNDROME PROGRAM DIRECTOR

    Boston Children's Hospital's Rett Syndrome Program, the only program of its kind in New England, welcomes Walter Kaufmann, MD, as its new director. In addition to seeing patients, Dr. Kaufmann specializes in understanding why children with Rett Syndrome develop cognitive and behavioral problems. As founder and chair of the international RettSearch consortium, he has conducted extensive laboratory and clinical research, and will head a new phase 2 IGF-1 drug trial.


     Rett syndrome is a genetic disorder of the nervous system that causes a regression (loss) of language and motor skills. The syndrome is considered one of the autism spectrum disorders (ASDs), although it has many other specific features that set it apart.

    Here are some of the basics of Rett syndrome:

    • Rett syndrome is a neurodevelopmental disorder that’s characterized by a child's impaired ability to physically perform purposeful movements. Children with Rett syndrome also exhibit autistic behaviors such as impaired social interaction and communication.
    • Children with Rett syndrome often have normal development during the first six to 18 months of life, followed by later loss (regression) of language and motor skills.
    • Rett syndrome is most often misdiagnosed as autism, cerebral palsy or a non-specific developmental delay since the conditions share similar physical and mental symptoms. 
    • Rett syndrome occurs in about one out of 10,000 to 15,000 children and affects girls almost exclusively.
    • Rett syndrome is caused by a mutation that occurs on the X chromosome. Males born with the defective gene usually don’t survive childbirth because they don’t have the additional X chromosome needed to make up for the problem.
    • Although there’s currently no cure for Rett syndrome, in many cases the physical symptoms can be alleviated and managed by occupational therapy and physical therapy.
    • Life expectancy depends on when symptoms first begin and their severity. On average, most people with the condition survive into their 40s or 50s. 

    How Boston Children's Hospital approaches Rett syndrome

    In our Rett Syndrome Program at Children’s, we’re dedicated to helping children and adults, who have Rett syndrome and related conditions, develop to their full potential. We are optimistic about recent scientific developments regarding Rett syndrome, and our doctors are collaborating with researchers to translate their discoveries into meaningful treatments for children.

    We bring together a team of physicians and therapists from various fields who have expertise and experience in caring for children with Rett syndrome. 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 maximize her potential.

    Rett syndrome: Reviewed by Omar Khwaja, MD, neurologist
    © Children’s Hospital Boston; posted in 2011

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