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Rett Syndrome Center

Among the highly specialized services offered by the Division of Child Neurology at The Children's Hospital at Montefiore (CHAM) is the Center for Rett Syndrome. This is the only center for Rett syndrome in the tri-state area.

Rett syndrome is an autism spectrum disorder and the most common genetic cause of severe impairment in girls, caused by mutations in a gene for Methyl-CpG binding protein 2 (MECP2), which locates on Xq28. Children with Rett syndrome appear to develop normally until 6 to 18 months of age, when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems.

Although, classified as a neurological disorder, in reality patients with Rett syndrome are multiply handicapped (reflux, constipation, poor nutrient absorption, growth retardation, irregular breathing, autonomic dysfunction, biting/chewing/swallowing difficulties, scoliosis, teeth grinding and dental problems, abnormal sleep patterns, irritability, anxiety, etc.)

Our Center was born out of the optimism brought by the recent scientific proof that even severe symptoms of Rett syndrome can be reversed. The core of our philosophy is our conviction that these experimental results will translate into successful treatments.

Our mission is to provide state-of-the-art services for patients with Rett syndrome through intervention, education and research aimed at effective treatments and cures. We ensure that each patient will have continuity of care from infancy through adolescence and adulthood.

Our main clinical efforts are focused on:

  • Providing multidisciplinary care for patients.
  • Conducting pre-clinical and clinical research in order to extend knowledge and treatment of Rett syndrome.
  • Promoting education and support for caregivers, family members, healthcare providers, and the community.