A rare form of autism, Rett’s syndrome affects the way the brain develops and occurs almost exclusively in girls. Babies develop normally at first but when the infant reaches around 18 months, the child starts showing problems with motor skills which may affect their ability to use their hands, feet, affect speaking and chewing and difficulty breathing. Only about one of every 10,000 – 15,000 girls will develop this disorder and though there is no cure, there are a number of treatments used to help the child and their family function on a day to day basis
The symptoms of Rett’s syndrome vary from child to child in severity as well as when the symptoms start to develop. The most common symptoms these young girls begin to develop are the slowing of head growth, loss of muscle tone, deterioration of language skills as the child grows and social anxiety when interacting with other children. Symptoms are generally divided into four stages:
- Stage 1 – Between the ages of 6 to 18 months, symptoms are very subtle and include lack of eye contact, loss of interests in toys and delays in learning to sit and crawl.
- Stage 2 – Between the ages of 1 to 4 years, children lose the ability to speak and to use their hands purposefully, rather they use their hands for repetitive, purposeless hand motions and gestures. Children may hold their breath and hyperventilate.
- Stage 3 – During the ages of 2 to 10 years, issues with motor skills continue but behavioral issues may improve. They aren’t as irritable and cry less. Many people with Rett’s stay in this stage for the duration of their life.
- Stage 4 – Marked by a significant loss of mobility and muscle strength, the final stage of Rhett’s is a plateau. Other symptoms don’t increase or decrease but the individual will need assistance for the remainder of their life which generally lasts into their 40s and 50s.
The majority of girls that are diagnosed with Rett’s syndrome have a mutation in a particular gene on the “X” chromosome. The specifics of the gene and the mutation are still unclear to doctors. Although Rett’s seems to be genetic, the faulty gene is not inherited from the child’s parents. Since Rett’s is a genetic mutation, there are no preventative measures one can take to ensure their child does not develop Rett’s syndrome. If a boy develops Rett’s, he dies shortly after birth. Because boy’s only have one “X” chromosome, the severity of the disease is fatal.
Rett’s is diagnosed by the pattern of behaviors seen in the affected girl. The observations alone by a doctor can determine whether or not the child has Rett’s and genetic testing is also available to confirm the genetic mutation. Research has shown that genetic testing can help predict the severity of the disorder. The behavioral issues doctors look for when attempting to diagnose the individual include normal development until about 6 months, slowed head growth after 6 months, severely impaired language skills, shaking of the torso, repetitive hand motions and toe-stepping or a wide gait. Other symptoms doctors look at when diagnosing Rett’s include scoliosis, seizures, trouble sleeping, irritability and poor circulation.
Unfortunately, there is no cure for Rett’s syndrome. Though there are medications that can help maintain some of the symptoms associated with Rett’s such as insomnia and seizures, medications for the disorder itself are currently unavailable. Treatments for Rett’s include physical therapy to increase muscle tone, speech therapy to improve communication skills, and occupational therapy to help these girls learn how to perform daily tasks such as bathing and dressing independently.