What It Is
Rett Syndrome is a debilitating, sometimes fatal, developmental disorder that gets its name from Andreas Rett, the Austrian doctor who first identified it in 1966. The National Institute of Neurological Disorders and Stroke says children afflicted with Rett Syndrome can have problems walking and speaking, may exhibit repetitive behaviors (usually involving their hands) and may also suffer from mental retardation. The condition presents itself in four stages, from "early onset," which could begin when children are as young as six months, to "late motor deterioration," which can render them nearly immobilized.
But research is making headway into the Rett Syndrome mystery. According to the International Rett Syndrome Association, in 1999, scientists discovered a genetic root to Rett Syndrome, with 80 percent of those who meet criteria for the disorder showing a mutation on an X chromosome. No one knows why the gene winds up flawed; the problem, it appears, occurs randomly.
How it's similar to classic autism
Children with Rett Syndrome exhibit symptoms similar to those diagnosed with classic autism, including toe-walking and lack of eye contact, with the condition's severity ranging from mild to severe, like their counterparts on the spectrum. They also have weakened muscle tone (aka hypotonia) and trouble interacting with others. Still, despite the similarities, there's enough dissension in the expert ranks that some believe Rett Syndrome shouldn't be classified as an autism spectrum disorder at all.
How diagnosis differs
Classic autism afflicts more boys than girls, but in the case of Rett Syndrome, the opposite is true. In fact, sufferers are almost always girls. It's also much more rare, affecting about 1 in 10,000. Unlike others on the spectrum, children with Rett often appear to develop typically until they simply don't any longer. Sometimes, the change seems to come out of the blue. One minute they're crawling and pulling up on their feet, and the next they're regressing progressively.
Children with Rett Syndrome often move their hands in a manner distinct only to them: Rather than just flap them, a habit often identified with classic autism, those with Rett Syndrome fidget, wring, clasp, squeeze or tap them, seemingly unable to stop. In fact, many suffer from apraxia, a neurological condition that robs them of the ability to carry out the simplest of movements purposefully — opening their mouths, walking — even if there are no physical reasons why they can't. (Even eating may be tricky.) They also experience seizures and may have heads that seem disproportionately small compared with the rest of their bodies.
What To Do About It
Like classic autism, Rett Syndrome has no known cure, but there are many ways to ease the challenges it inflicts on those who've been diagnosed. Much like other conditions on the spectrum, Rett Syndrome requires a complicated, grab-bag approach that includes many different types of therapies. What these regimens may be depends on your input, as well as those of the members of your child's medical team. These include:
Physical therapy, since it addresses disintegrating motor skills and gives them more control over their involuntarily movements.
Occupational therapy, which teaches them to master basic life skills such as drinking and brushing teeth.
Speech therapy to help them communicate.
Medical interventions that address health issues associated with Rett Syndrome, including seizures and gait problems.
Splints and braces to assist with coordination and balance.
Sensory integration therapy, which helps them process what they see, hear, taste, smell and touch.
Alternative regimens such as hydrotherapy (aka water therapy) and hippotherapy.
How to Cope
Parents whose children have received this diagnosis face a tough challenge: First, there's the initial shock, which may leave you feeling embittered and confused. After all, your daughter seemed fine at the onset. Then, suddenly, you're thrown one massive monkey wrench by the diagnosis, although that diagnosis does ultimately explain the concerns you may have experienced as you noticed hard-to-explain changes in your child's behavior.
Know that although the condition seems untenable, it isn't. First, there are a handful of organizations ready to lend you the support you need and help you meet other families facing the same challenges. (You'll need it: Families with children diagnosed with Rett Syndrome are often fatigued by the intense days and nights associated with managing the condition. Those with children on other points of the spectrum are similarly overwhelmed, but Rett Syndrome has numerous attendant medical conditions that add to the load.) Also, while there's no known cure yet, researchers are making great strides; identifying the faulty gene is just one of many steps they're taking to come up with better treatment options.
Rett Syndrome places an inordinate amount of physical limitations on children, but there's no reason they should remain immobilized. With your guidance, plus a spate of therapies and equipment targeting your child's specific weaknesses, your child should be able to lead a fairly active life. Nevertheless, like others on the spectrum, your daughter will need tons of emotional support. As she grows more aware of her condition and how it makes her different from her peers, she may need to talk to a therapist trained in dealing with developmental disorders. Information is power, true, but as she learns more about Rett Syndrome, she may also feel discouraged and alone. Let her know she's not, and that you'll be there for her every step of the way.
How to Grow With It
Teens & Adults
Because of problems with chewing and swallowing, your child's medical team should pay special attention to her nutritional needs. She could have trouble gaining and keeping a healthy weight, which could then affect menstruation, according to a study presented at the 2007 International Rett Syndrome Association conference. Consult a nutritionist familiar with spectrum disorders to make sure your teen's caloric requirements are adequately met.
Your child's emotions need tending, too. As with typically developing children, adolescence and its hormonal shifts can be intense. (Easing into adulthood, and the responsibilities that come with the transition, may feel just as labored.) Unable to read their peers, they may become lonely and confused. Personal relationships may feel impossible to navigate, as will the prospect of work. Still, independence is the main objective, made doable with the help of her family, friends and medical team.
Researchers say many children with Rett Syndrome live well into middle age. By then, your child will likely be living independently, able to take care of her needs. Just how independent, of course, depends on how much you and her medical team lay the groundwork. Talk to her doctor and therapists to come up with a plan that ensures a healthy and happy future.