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Orthopaedic Surgery
Scoliosis in Rett Syndrome
Scoliosis is often apparent in children with Rett Syndrome, a rare developmental disorder affecting one in 10,000 people in the United States. Because the disorder is linked to a mutation on the X chromosome, it is usually only found in girls. Children are generally born clinically normal, but their development begins to slow between the ages of seven and 18 months -- missing major milestones such as crawling, walking and talking. It is a progressive neurological disorder exhibiting reduced muscle tone, loss of purposeful use of the hands and a diminished ability to communicate and express feelings.
Many Rett Syndrome patients' parents are faced with a difficult decision regarding surgery for their daughters. Eight-year-old Abby was diagnosed at 25 months old. She exhibits many of the complications that can be caused by Rett Syndrome, including autistic-like behavior and a life in a wheel chair requiring constant care giving. Abby's team of healthcare givers had been keeping an eye on the curvature of her spine -- hoping it would not continue to progress and impact her ability to breathe. When she turned eight, they witnessed a rapid shift of her spine’s curve from 21 degrees to 45 degrees in six months. She was no longer able to sit up and she was in pain. It became clear that spinal surgery was necessary to preserve her quality of life. Read Abby's full story here.
Up until recently, information for parents regarding how to manage scoliosis in Rett Syndrome patients has not been readily available. David P. Roye, Jr., MD, Chief of Pediatric Orthopaedic Surgery at NewYork-Presbyterian Morgan Stanley Children's Hospital of New York-Presbyterian, and his Pediatric Orthopaedic Research team collaborated with the Telethon Institute for Child Health in Western Australia, and international Rett syndrome organizations to develop a comprehensive guide to the best management of scoliosis for Rett syndrome patients. The new booklet, Scoliosis in Rett Syndrome: A Collaboration between Parents, Clinicians and Researchers, contains a set of guidelines based on the findings of a research paper that was published in the latest edition of the international journal SPINE.M
Co-author Jenny Downs, Ph.D., who led the project at Perth's Telethon Institute for Child Health Research, said, "Scoliosis is a common orthopedic complication of Rett syndrome with about three quarters affected by the age of 13 years," Dr. Downs said. "These guidelines take a life-span approach, commencing before the development of scoliosis and including comprehensive management from medical, therapy and surgical specialists. It is our hope that the guidelines will support clinicians with less experience, promote discussion between clinicians and parents, and stimulate research to improve management in this condition."
Access Scoliosis in Rett Syndrome: A Collaboration Between Parents, Clinicians and Researchers at https://interrett.ichr.uwa.edu.au/pages_english/scol_guidelines.php or call (212) 305-5475.
