Rett syndrome is a rare genetic disorder that almost always affects females. It’s associated with widespread developmental delays, epilepsy, scoliosis, and issues with sleep, feeding and movement coordination.
Many children diagnosed with Rett syndrome appear to develop either typically, or somewhat slower than expected, until ages 1 to 4, when they experience a loss of developmental skills. Many patients unfortunately undergo repeated laboratory tests, imaging studies, and medical visits before a diagnosis of Rett syndrome is confirmed. One finding that often leads to diagnosis involves stereotyped hand movements—as though children are repeatedly washing their hands. Children less severely affected may not develop such movements.
Although Rett syndrome no doubt has existed for a long time, as a distinct diagnosis it is rather new. Dr. Andreas Rett first recognized and wrote about the condition in 1966. The gene responsible for the condition wasn’t discovered until 1999. Before that, doctors based diagnoses on their observations of patients who had similar behaviors and symptoms. Since 1999, significant work has gone into identifying the purpose of this gene and considering ideas for treatment.
Gillette Children's Specialty Healthcare founded our Rett Syndrome Clinic in 2005 in hopes that focusing on this unique group of patients would allow us to better understand the condition and provide help. By partnering with researchers at the University of Minnesota and other locations, we are beginning to understand more. Some of less-discussed effects of Rett syndrome include trouble regulating body temperature, being aware of pain, and sleeping. We have begun investigating the communication abilities of patients with Rett syndrome in hopes that we can learn more about the thoughts and desires this condition prevents them from clearly expressing. Beyond characterizing symptoms and treating related Rett syndrome issues, we are working to further collaborate with scientific investigators seeking to treat Rett syndrome and prevent associated symptoms. Our hope is that some of this research will yield ways to gauge the success of treatments currently under development. As with all research, the pace of discovery can be slow and frustrating, but our hope is to provide not just support for symptoms, but also active treatments for Rett syndrome in years to come.
Timothy Feyma, M.D., is a pediatric neurologist at Gillette Children's Specialty Healthcare. His professional interests include following neonatal intensive care unit (NICU) babies and seeing patients who have epilepsy, metabolic disorders and movement disorders. After receiving his medical degree from the University of Wisconsin Medical School, Feyma completed a pediatrics residency at Penn State Hershey Medical Center in Hershey, Pa. He then completed a pediatric neurology residency and a fellowship at the University of Washington in Seattle. His professional memberships include the Child Neurology Society and the American Academy of Neurology.
Arthur Beisang, M.D., is a pediatrician at Gillette. He sees children who have cerebral palsy, Rett syndrome, and other complex medical conditions. He also works with children whose disabilities result in drooling issues. Beisang received a medical degree from St. George’s School of Medicine in Grenada, West Indies. He completed a residency in pediatrics at the University of Minnesota. Prior to joining Gillette in 2006, Beisang was a pediatrician at Region’s Hospital and an associate professor at the University of Minnesota. He remains an assistant professor of pediatrics at the University of Minnesota. Beisang is certified by the American Board of Pediatrics.