Norton Children’s board-certified and fellowship-trained neurologists are the leading providers of care for Rett syndrome in Louisville, Kentucky, and Southern Indiana.
Norton Children’s Hospital is the pediatric teaching hospital for the University of Louisville School of Medicine. Our physicians have expertise in their fields and are training the next generation of pediatric specialists.
We’ll determine the severity of your child’s Rett syndrome and create a treatment plan that minimizes risk so your child can get back to being a kid again.
What is Rett Syndrome?
Rett syndrome is a progressive disorder that affects the neurodevelopment of young girls. (Boys rarely are diagnosed with Rett syndrome.) In most individuals, Rett syndrome is caused by a specific genetic mutation. Children with the disease have loss of previously learned skills (regression of development), abnormal repetitive movements in the hands, slowed growth of the brain and head, difficulty with walking, and seizures.
In the early stages of the disease, children with Rett syndrome may have features of autism spectrum disorder with behavior abnormalities, toe-walking or other gait changes, sleep difficulties or repetitive movements (stereotypies). Children may develop breathing difficulties such as breath holding, air swallowing and hyperventilation.
Rett Syndrome Diagnosis
Rett syndrome is diagnosed by observing signs of the disease during a child’s development. If the clinical signs of the disease are met or there is a strong suspicion, genetic testing may be performed (blood test). Other blood tests may be ordered to evaluate for other diseases that result in neurological decline and abnormal movements. Our care team may order imaging of the brain (MRI). If our team is concerned your child might have seizures, then an electroencephalogram (EEG) may be performed. If your child has abnormal breathing patterns, a sleep study may be necessary.
Rett Syndrome Treatment
There is no cure for Rett syndrome. Our team will focus treatments on managing the symptoms of the disease. We may start your child on antiepileptic medications if your child has seizures. Team members from physical therapy, occupational therapy, speech therapy and behavioral therapy can work with your child, which can be helpful. Our team will monitor regularly for scoliosis (curvature in the spine).