Rett Syndrome: Causes and Symptoms
Dr. R Vardarajulu
Frazer town, Bengaluru Feb 11, 2017
It is a rare neurological disorder affecting mainly females and very few males. It is usually discovered in the first two years of life, and a child’s diagnosis with Rett syndrome can feel overwhelming.
There is a mutation on the X chromosome but exactly what this gene does, or how its mutation leads to Rett syndrome, is not clear.
When boys develop the Rett syndrome mutation, they rarely live past birth. Males have only one X chromosome, so the effects of the disease are much more serious and always fatal.
Stages of Rett syndrome
Stage I: Early onset: Signs and symptoms are subtle and easily overlooked during the first stage, which starts between 6 and 18 months of age and can last for a few months or a year.
Stage II: Rapid Destruction: Starting between 1 and 4 years of age, children lose the ability to perform skills they previously had. This loss can be rapid or more gradual, occurring over weeks or months.
Stage III: Plateau: The third stage usually begins between the ages of 2 and 10 years and can last for many years.
Stage IV: Late motor deterioration: This stage usually begins after the age of 10 and can last for years or decades. It is marked by reduced mobility, muscle weakness, joint contractures and scoliosis.
Most babies with Rett syndrome seem to grow normally for the first 6 months before any signs of the disorder are obvious. The most common changes usually show up when babies are between 12 and 18 months, they can be sudden or progress slowly.
Slowed growth: The brain doesn’t grow properly, and the head is usually small.
Problems with hand movements: Lose the use of their hands. They tend to wring or rub their hands together.
No language skills: Between ages 1 to 4, social and language skills start to decline. Children stop talking and can have extreme anxiety.
Problems with muscles and coordination: This can make walking awkwardly.
The trouble with breathing: May have uncoordinated breathing and seizures, including very fast breathing, forceful exhaling of air or saliva, and swallowing air.
It is based on a girl’s pattern of symptoms and behaviour. Doctors will rule out other conditions, including autism spectrum disorder, cerebral palsy, metabolic disorders. And prenatal brain disorders.
Genetic testing can help confirm the diagnosis in 80% of girls with suspected Rett syndrome.
There is no cure for Rett syndrome, there are treatments that can improve symptoms. Children should continue these treatments for their entire life.
The best options available to treat Rett syndrome include:
- Standard medical care and medication
- Physical therapy
- Speech therapy
- Occupational therapy
- Good nutrition
- Behavioural therapy
- Supportive services
Experts believe that therapy can help girls with Rett syndrome and their parents.