Rett Syndrome

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Connect with the Norton Children’s
Neurosurgery Team

(502) 583-1697

The board-certified and fellowship-trained neurologists with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, 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 neurological development 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 magnetic resonance imaging (MRI) of the brain. 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).

Why Norton Children’s Neuroscience Institute?

  • The Norton Children’s Hospital Comprehensive Epilepsy Center is a Level 4 epilepsy center, the highest rating available from the National Association of Epilepsy Centers. Norton Children’s Hospital has held this designation since 2013.
  • We are the first in Kentucky and among the first in the nation to use neurostimulation in a pediatric patient.
  • Regional neurology care is available for children across Kentucky and Southern Indiana. We travel to clinics in Bowling Green, Campbellsville, Corbin, Elizabethtown, Frankfort, Owensboro and Paducah, Kentucky; and Evansville, Indiana. We also perform a number of telemedicine visits each week.
  • The specialists with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, use state-of-the-art technology to treat epilepsy, uncontrollable seizures and deep brain tumors in children who, in the past, would not be candidates for surgery, including:
    • Visualase: Technology that allows neurosurgeons to perform MRI-guided laser ablation surgery. Fewer than two dozen pediatric hospitals in the U.S. offer this technology.
    • Surgical Theater: Virtual reality technology that creates an immersive 3D view of a patient’s brain, allowing neurosurgeons, the patient and family to see inside the skull and brain to get a greater understanding of the condition and impact of potential procedures. Norton Children’s Hospital is the first hospital in the region to use this technology.
  • We offer dedicated multidisciplinary clinics for brain tumors, traumatic brain injuries, spina bifida, craniofacial injuries and disorders, epilepsy, muscular dystrophy, spasticity, headache/migraine, autism and neurocutaneous disorders.
  • Our multidisciplinary craniofacial program was the first established in the Midwest.
  • We offer a neurogenetics clinic to evaluate and treat children with neurogenetic syndromes.
  • We have a neuropsychology program that specializes in the evaluation of children and teens with a variety of neurological, neurodevelopmental and medical conditions, including brain tumors and epilepsy.
  • Outpatient neurology facilities in downtown Louisville are equipped with in-office electroencephalography (EEG) capabilities and laboratory services in the same building, creating a streamlined, family-centered environment.
  • We offer the region’s first clinic to treat children with immune-mediated neurological disorders.

Occupational and Speech Therapy

Amber L. Devine-Stinson, speech-language pathologist

Liz Grant, occupational therapist

Katherine M. Majot, occupational therapist

Brittany M. Mills, speech-language pathologist

Jocelyn W. Warren, occupational therapist 


Amanda Ables, Ph.D.

Lily Cooksey, Psy.D.

Grace M. Kuravackel, Ph.D.

Melissa K. Wheatley, licensed psychological practitioner 

Applied Behavior Analysis

Erick M. Dubuque, Ph.D.

Molly L. Dubuque

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