Understanding Rett Syndrome

By Amber Greviskes June 14, 2011

Rett Syndrome is a rare and life-altering brain disorder that almost exclusively affects girls. Intense therapy is required to manage the disorder, but recent research presents reasons to hope a cure is possible.

baby with Rett Syndrome Zoe Rothschild of Stamford, Connecticut, was a happy child. She never crawled, but scooted around on her bottom. Then her vocabulary stalled, and daycare teachers encouraged Rachel, her mother, to visit her pediatrician. But it wasn't until genetic tests were ordered (after a period of continuous therapy with physical, occupational, and speech therapists that did not positively impact her symptoms) that it became apparent that Zoe had Rett Syndrome.

Of the genetic testing experience, "there's a list of everything they're testing the child for, and you know there are certain ones -- like Angelman's and Rett syndrome -- that are considered the 'bad' ones," Rachel Rothschild recalls. "Our doctor said they'd start with the worst ones and work their way backward. Rett was the worse-case scenario."

Rett is a neurodevelopmental disease that begins in infancy or early childhood and is seen almost exclusively in girls. According to the National Institute of Neurological Disorders and Stroke, Rett affects about one in every 10,000 to 15,000 girls born each year. These children are usually born healthy and show normal development until they're six to 18 months old. At this point, new skills stop developing and a period of regression begins that includes losing communication skills, hand use, and, at times, walking ability. The child's head stops growing at a normal rate.

Although each child experiences Rett differently, the child may wring her hands, have breathing problems, seize, or cry inconsolably. The condition can mirror autism, cerebral palsy, or non-specific developmental delay. Rett's wide-ranging symptoms can influence every aspect of the child's -- and family's -- life.

"For the parent, the most frustrating part of the condition is the fact that there was normal development initially," says Christine J. Mihaila, Ph.D., a neuropsychologist at The Brain Specialists in Nassau County, Long Island. "Additionally, there is the occasion of misdiagnosis, which only adds to frustration."

Varying Symptoms

Rett, which is not inherited, can be diagnosed by the presence of an X-chromosome mutation, called an MECP2 mutation. The severity of the disease is determined by the location and type of mutation, which causes the variation in symptoms among children with Rett. The disease can be diagnosed through a blood test or a clinical diagnosis based on signs and symptoms.

Although there are four stages of Rett, children will spend most of their time in Stage III, the plateau stage, or Stage IV, when motor development is lost. Children who never develop motor skills move immediately from Stage II, the rapid destructive stage, to Stage IV. Based on the stage the child reaches, treatment plans are created that may include regular visits with more than a dozen doctors and specialists. "Treatments geared at improving quality of life and maximizing levels of independence are key,"

Dr. Mihaila says. "Occupational, physical, feeding, and speech or language therapies are all integrated into a child's medical management of the disorder as well."

Research, Confusion, and Hope

The main reason treatment focuses on improving the quality of life is because there is presently no cure for the disease. However, the identification of the gene mutation that causes Rett in 1999 has led to new research. Two years ago, Rett was reversed in animals. Scientists are now determining ways to reverse the mutation in humans.

After the initial diagnosis, Rothschild sought information from numerous sources, including websites, which she now regrets. Many only reinforced the family's fears, made the Rothschilds feel more alone, or confused them. It wasn't until Zoe Rothschild was referred to the Rett Syndrome Center at The Children's Hospital at Montefiore in the Bronx that her family began to receive answers from an 18-specialist team that focuses on children with Rett.

Aleksandra Djukic, M.D., the director of the Rett Syndrome Center, encourages her team to improve the patient's quality of life, increase her communication ability, and discover ways to assist in learning. Research has shown that the girls have a normal brain foundation. When they are given access to special communication tools, it's possible for them to express feelings, identify characters from books, or even make television or music clips play by following simple instructions. "It's obvious that they understand you," Dr. Djukic says. "They just can't communicate."

For Zoe and Rachel Rothschild, being able to communicate would be a huge step in their relationship. Rachel realizes that Zoe has more complex thoughts than those that express basic physical needs; but, like many children with Rett, she can only make sounds.

"She knows she's loved, but she also knows she's being left out," Rachel Rothschild says. "I hope she continues to be happy and (relatively) healthy, and I hope for a cure. When you deal with the day-to-day, you have to believe that there's a cure. That's what keeps me going."

According to Rett Syndrome Research Trust, science tells us that we have every reason to be hopeful for finding an eventual cure to this debilitating brain disorder. Visit www.rsrt.org to learn more or support their research efforts.

Also see: New Technology at the Bronx's Rett Syndrome Center Helps Children Communicate