Rett syndrome, what parents need to know

Rett's syndrome is a rare and serious neurological disorder. The disease usually affects mainly girls.

The disease is usually detected in the first 2 years of life. Although there is no cure, early identification and treatment can provide babies with a chance of getting well. Previously, Rett's syndrome was thought to be part of the autism disorder. Now, the disease is mainly hereditary. Let aFamilyToday Health learn more about this syndrome!

Symptoms of Rett's syndrome

Ages at risk of this syndrome are also extremely diverse. Most babies with Rett's syndrome seem to develop normally during the first 6 months before any signs appear to be evident. The most common changes usually appear between 12 and 18 months of age and they can come on suddenly or slowly.

Symptoms include:

Slow growth . The brain does not develop like normal babies and the head is usually small (doctors call it molluscum). This stunted growth becomes more apparent as the baby gets older;

Hand movement problems. Most children with Rett's syndrome lose the ability to control their hands. Babies often twist their hands or knit their hands together;

No language skills. Social and language skills of babies 1 to 4 will begin to decline. Babies with Rett's syndrome often stop talking and may have negative concerns. Babies may avoid or care about other people, toys and surroundings;

Muscle and coordination problems. This can make the baby look weird;

Shortness of breath. Children with Rett's syndrome may have irregular breathing and seizures, rapid breathing, strong breathing or swallowing saliva and swallowing breath;

Children with Rett's syndrome also tend to become stressed and irritable as they get older. Babies may cry or scream for a long time or laugh for a long time.

Symptoms of Rett's syndrome usually do not improve over time. These symptoms will stay with your baby for life. Usually, symptoms get a lot worse or don't change. It is very rare that people with Rett's syndrome can live independently.

Causes of Rett's syndrome

Most children with Rett's syndrome have an X chromosome mutation. Although Rett's syndrome is inherited, babies almost never inherit a faulty gene from their parents that is a mutation that occurs. in your baby's DNA.

When a boy has the Rett mutation, he rarely survives birth. Boys have only one X chromosome (instead of girls having 2), so the effects are much more serious and almost always fatal.

Diagnostic

In girls, doctors can make a diagnosis by observing the baby and talking with their parents about for example when symptoms begin. Because Rett's syndrome is rare, doctors usually rule out symptoms of autism spectrum disorders, cerebral palsy, metabolic disorders, and prenatal brain disorders.

Genetic testing can help confirm diagnosis in 80% of girls with suspected Rett syndrome. These tests can also predict the severity of the disease.

Treatment of Rett's syndrome

Although there is no cure for Rett's syndrome, there are treatments that can improve symptoms. Babies should maintain these treatments throughout their lives. The best options for treating Rett's syndrome include:

Medical care and medicine;

Physical therapy;

Speech therapy;

Occupational therapy;

Good nutrition ;

Behavioral therapy;

Support services.

Medicines can treat some movement problems in babies with Rett's syndrome. Medicines can also help control seizures. Experts believe that therapies can help girls with Rett's syndrome. Some children may also go to school and learn to socialize better after applying therapies.

Hope this article has provided you with lots of useful information.