Rett Syndrome: A Brief Overview

by Kristyn Crow | More from this Blogger

10 Jun 2006 08:55 AM

Rett Syndrome was first described in 1966 by Dr. Andreas Rett, an Austrian physician. Because it is caused by mutations on the X chromosome (specifically, on the MECP2 gene), it almost exclusively occurs in females. Females have two X chromosomes, so the mutation found on one chromosome is somewhat compensated for by the other. In males, however, mutations on the X chromosome cannot be compensated for by the Y chromosome. So males with the condition will most likely die prior to or shortly after birth. Rett Syndrome is found in every race and social economic class. It affects one in every 10,000 to 15,000 live female births.

What are the symptoms?

After a period of seemingly normal development, the child begins to regress. Often the first symptom seen is a loss of muscle tone. The regression tends to follow these four stages:

• Early onset. From the age of six to eighteen months less eye contact may be observed, and the child may begin to show difficulty with sitting and crawling, when previously those milestones appeared to have been reached. Often this stage is very subtle, and parents may not be concerned.
• Rapid destructive phase. Taking place between the ages of one and four years, the child begins to lose meaningful hand functioning. She may also begin to demonstrate peculiar hand behaviors such as closing and unclosing fists, hand-wringing, and random touching. Sleep and breathing difficulties may develop, and she starts to exhibit autistic-like behaviors including a lack of social awareness and disinterest in social relationships. A slowing of growth in the head is seen in this phase, and she may walk on her toes or with a peculiar gait.
• Plateau or Pseudo-Stationary phase. Occurring between the ages of two and ten, a slight tapering off of some symptoms is seen. Communication abilities may improve, and her autistic-like behaviors may decrease. She may become more interested in her surroundings. However, Apraxia, or motor problems, also increase and she may have seizures. Many girls with Rett Syndrome remain in this phase indefinitely.
• Late motor deterioration stage. This stage may last for many years and is marked by greatly reduced mobility. The child may stop walking, and may struggle with spasticity, dystonia, and scoliosis. Generally cognitive abilities remain unchanged.

Is Rett Syndrome inherited?

Although it is genetic, nearly all cases seem to be sporadic and spontaneous. It is very unlikely-extremely unlikely-for a second child in one family to be born with the disorder.

What can be done?

Rett Syndrome is incurable, so treatment is symptom-focused. It is important to work closely with a dedicated and caring physician. Parents should seek support with other parents dealing with this condition. A tremendous amount of research is being done, and hope is on the horizon.

For more information about Rett Syndrome, visit the International Rett Syndrome Association.

Kristyn Crow is the author of this blog. Visit her website by clicking here.

Learn more about Kristyn Crow

Kristyn Crow is the mother of seven children, and the author of three children's books. Visit her website at www.kristyncrow.com.

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