Symptoms and Diagnosis of Rett Syndrome

Symptoms of Rett Syndrome
6-18 Months
    At first, children with Rett syndrome develop normally and then:
-Neurological development slows down or the child does not gain any new skills (this can continue to age four)
-In some cases, usually after 9 months, there is a regression of skills the children already had been exhibiting
- Regular speech is gone, but sounds, such as laughing and crying, remain intact
-The wringing or flapping of hands begins
-Loss of fine motor coordination
19 Months-15 Years
-Walking may become unsteady or the ability can be lost all together
-Children will hyperventilate or develop breathing problems, such as holding one's breath for long periods of time
-Panic attacks
-Screaming fits/tantrums
-Crying fits
-Laughing fits/hysterics
-Increased fear, stress, and easily over-excited, which results in the children often being very shaky
15 Years+
-People experience little to no interest in the outside world
-Avoid eye contact/social interactions
-Seizures
-Scoliosis
Diagnosis of Rett Syndrome
       A genetic test is performed upon the child to confirm the diagnosis of Rett syndrome. The test detects the MECP2 mutation located on the child's X chromosome, and the test is usually 80% correct. Unfortunately, some children with an MECP2 genetic mutation do not always have Rett syndrome, resulting in false positives. Because of this, an MECP2 genetic test is performed as well as careful observation of the child's behavior in early childhood.
     Other disorders associated with an MECP2 genetic mutation are cerebral palsy, autism, or other non-specific developmental delays.

For more information about the symptoms and diagnosis of Rett syndrome, please visit:
- http://www.webmd.com/brain/autism/rett-syndrome
-http://www.childrenshospital.org/health-topics/conditions/rett-syndrome