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Rett syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use.
Causes of Rett Syndrome
Signs & Symptoms of Rett Syndrome
An infant with Rett syndrome usually has normal development for the first 6 - 18 months. Symptoms range from mild to severe.
Symptoms may include:
Diagnosis of Rett Syndrome
Genetic testing may be done to look for the gene defect associated with the syndrome. However, since the defect is not identified in everyone with the disease, the diagnosis of Rett syndrome is based on symptoms.
There are several different types of Rett syndrome:
Rett syndrome is classified as atypical if:
Treatments of Rett Syndrome
Treatment may include:
Supplemental feedings can help those with slowed growth. A feeding tube may be needed if the patient breathes in (aspirates) food. Diets high in calories and fat, as well as nasogastric tube feeds, can help increase weight and height. Weight gain may improve alertness and social interactions.
Medications such as carbamazepine may be used to treat seizures. Other medications or supplements that have been used or studied include:
Stem cell therapy, alone or in combination with gene therapy, is another hopeful treatment.
Prevention of Rett Syndrome
The likelihood of having another child with Rett syndrome is less than 1%.
When to seek Medical Advice
Call your health care provider if you have any concerns about your child's development, if you notice a lack of normal development with motor or language skills in a child, or if there are associated disorders that need treatment.
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