Rett Syndrome

Norton Children’s board-certified and fellowship-trained neurologists are the leading providers of Rett syndrome care 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.

What Is Rett Syndrome?

Rett syndrome is a progressive disorder that affects the neurodevelopment of young girls. (Boys are rarely reported with Rett syndrome.) In most individuals, Rett syndrome is caused by a specific genetic mutation. Children affected show 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 problems or repetitive movements (stereotypies). Children may develop breathing difficulties such as breath holding, air swallowing and hyperventilation.

Diagnosis

Rett syndrome is diagnosed by observing signs of the disease during a child’s development. If the clinical criteria for 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 neurologic decline and abnormal movements. Our team members may order imaging of the brain (brain MRI) to be performed. If our team is concerned your child might have seizures, then a member may order an electroencephalography (EEG) be performed. If your child has abnormal breathing patterns, a sleep study may be necessary.

Treatment for Rett Syndrome

There is no cure for Rett syndrome. Our team will focus treatments on managing the symptoms of the disease. Team members may start your child on antiepileptic medications if your child has seizures. Team members from our physical therapy, occupational therapy, speech therapy and behavioral therapy can work with your child, which can be helpful. Our team will monitor routinely for scoliosis (curvature in the spine).

David Lohr, M.D.
Gail Williams, M.D.

Occupational and speech therapy

Amber Devine-Stinson, speech language pathologist

Liz Grant, occupational therapist

Katherine Majot, occupational therapist

Brittany Mills, speech language pathologist

Jocelyn Warren, occupational therapist

Psychology

Amanda Ables, psychologist

Lily Cooksey, psychologist

Grace Kuravackel, psychologist

Melissa Wheatley, licensed psychological practitioner

Applied behavior analysis

Erick Dubuque, behavior analyst

Molly Dubuque, behavior analyst

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