Understanding Rett Syndrome

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.

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,"