In October 1999, scientists sponsored by the National Institute of Child Health and Human Development (NICHD) made a remarkable announcement?they discovered that a change in the sequence of a single gene can cause Rett syndrome.

Rett syndrome is one of many conditions classified as an autism spectrum disorder, which means it is not autism but has features that are similar to autism. This disorder causes autism-like symptoms, such as poor language skills, repeated hand motions, and decreased social contact in girls. These symptoms begin sometime between ages six months and 18 months, after apparently normal development.

With this discovery, NICHD researchers have their first glimpse into this baffling disease. These researchers join parents, families, and communities affected by the disorder in hoping that the discovery will lead to better diagnosis, treatment, and maybe even prevention of Rett syndrome.

What is Rett syndrome?

Imagine you are the parent of a baby girl. When she is born, the doctor tells you she is normal and healthy. You watch her start to become a little person. She smiles at you and your family when she?s six weeks old. She picks things up with her thumb and first finger when she is seven months old. At 10 months, she is rolling and crawling her way into everything. You take pictures of her first birthday, where she is sitting up without your help and smiling at the camera. She can even say her own version of ?cheese.?

Now imagine that same daughter at age two. She can no longer sit up and doesn?t grasp with her fingers. She starts having seizures. By the time she?s three, she is always grinding her teeth and stops talking. When she turns six, her spine starts to curve, which limits how well she can move. She screams and laughs during the night for no reason, but doesn?t respond to or interact with others. By her eighth birthday, she can?t move on her own and can?t talk.

The nightmare you just read is real for parents of girls with Rett syndrome. This tragic disorder causes some girls, whose growth, language skills, and personalities seemed normal before, to stop developing.

Sometime between their sixth and 18th month of life, these girls? development actually goes backward. They stop talking. They can?t control their feet when they walk. They stop using their hands to do things, or start wringing their hands all the time. These girls stop responding to their parents and pull away from social contact with others.

Rett syndrome is a challenging disease for most of the families who are touched by it. Although many girls with the disorder live into their 40s, their lives are often not easy. Many of them can?t walk or talk, but have to communicate with their eyes. They need special education, diets, and treatments for their various problems. Most girls with Rett syndrome can?t care for themselves and need someone to care for them all of their lives.

What causes Rett syndrome?

As mentioned earlier, Rett syndrome is caused by a change in a single gene. Because this condition is relatively rare, affecting one female out of 10,000 to 15,000, researchers have long felt it probably involved genes.

Is there any cure or treatment for Rett syndrome?

There is currently no cure for Rett syndrome. However, girls with the condition can be treated for some of the problems associated with Rett syndrome. For example, physical and occupational therapists can help these girls overcome problems of coordination and movement, while speech therapists can help these girls learn to talk or communicate. There are also a number of medicines that can help prevent seizures and breathing problems that many girls with Rett syndrome experience.

You can also learn more about the NICHD research on Rett syndrome and and autism spectrum disorders by accessing the NICHD Autism Web Page

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