Katie's Clinic for Rett Syndrome
WHAT IS RETT SYNDROME?
Rett syndrome is a neurological disorder affecting primarily females. Children with Rett Syndrome often exhibit autistic-like behaviors, such as repetitive hand movements, prolonged toe walking, body rocking and sleep problems, but the pathology is very different than autism.
In 1999, Dr. Huda Zoghbi and her colleagues located the gene responsible for Rett syndrome on one of the two X chromosomes that determine sex. Rett syndrome results when the gene that makes methyl cytosine binding protein mutates, causing production of excessive amounts of this protein.
Typical characteristics
• Normal development until 6 to 18 months of age
• Shakiness of the torso, and possibly the limbs
• Unsteady, stiff-legged gait
• Breathing difficulties such as hyperventilation, apnea or air swallowing
• Seizures (about 80 percent have epilepsy)
• Teeth grinding and difficulty chewing
• Retarded growth and small head
• Functioning mental level is usually between severely and profoundly mentally retarded
• Hypoactivity
In most cases, there is a regression in cognitive, behavioral, social, and motor skills throughout the child's lifetime.
For more information, visit the International Rett Syndrome Association Web site at www.rettsyndrome.org.
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