What is Rett Syndrome?

Rettův syndrom je vzácné onemocnění, závažná neurologická porucha, která postihuje většinou dívky; Je to obvykle objevil v prvních dvou letech života. diagnóza dítěte na Rettův syndrom může cítit ohromující rodičům, z části kvůli jezera porozumění a povědomí o nemocech. I přesto, že neexistuje žádný lék, early identification and therapy may help girls and families who are impacted by Rett syndrome, In the past, it was thought to be part of the Autism Spectrum DIsorder. Scientists now know that it is mostly genetically based.

The age when symptoms appear varies, but most babies with Rett syndrome seem to grow normally for the first six months before any signs of the disorder are noticeable. The most regularly change usually show up when babies are between 12 and 18 months, and they can be immediate or progress slowly. Symptomy Rettův syndrom;

Zakrnělý a zpomalil růst. Mozek není správně pěstovat, a hlava je obvykle malý (lékaři nazývají tento mikrocefalie). Tento pomalejší růst se stává jasnější, jak dítě stárne.

Potíže s pohyby rukou. Naprostá většina dětí s Rettův syndrom ztratit používání svých rukou. Mají tendenci vyždímat nebo mnout ruce.
Žádné jazykové znalosti. ve věku mezi, 1-to 4, sociální a komunikační schopnosti začnou klesat. Childen with Rett syndrome stop talking and can have extreme social anxiety. They may need to stay away from or not be interested in other people, toys, and their surroundings.
They may have problems with muscles and coordination. This can make walking awkwardly.
There can be trouble with breathing. A child with Rett may have uncoordinated or uncontrolled breathing and seizures, which may be very fast breathing (hyperventilation), swallowing salvia, forceful exhaling of air.
Children with Rett syndrome also are more likely to become agitated and irritable as they get older. They may cry or scream for elongated periods of time, or have long spells of laughter.

Symptoms of Rett syndrome normally don’t get better over time. It is a lifelong ailment. Often the symptoms deteriorate very slowly or don’t change. It’s unusual for people with Rett syndrome to be able to live independently.

Causes of Rett Syndrome
Most children with Rett syndrome have a deviation on the X chromosome. Precisely what this gene does to prompt Retts development, or how its mutation leads to Rett syndrome, is not clear. Researchers believe that the single gene may regulate many other genes involved in development.

Although Rett syndrome is genetic, there are rarely cases where children inherit the defective gene from their parents, Rather, it’s a chance mutation that occurs in DNA.

When males acquire the Rett syndrome mutation, they rarely live past birth. Boys possess only one X chromosome (instead of the two girls have), so the effects of the disease are much more grave and almost invariably fatal.

A diagnosis of Rett syndrome is consist of observation a girl’s pattern of symptoms and behavior. Physicians can deliver the diagnosis based on these observations alone and by speaking with the girl’s parents about different clues, like when the symptoms began.
Becuase Rett syndrome is rare; doctors will first rule other conditions, including autism spectrum disorder, metabolic disorders, cerebral palsy, and perinatal brain disorders.

A genetic examination can further confirm the diagnosis in 80% of girls with suspected Rett syndrome. The tests may also predict how severe it will be.

Despite there being no cure for Rett syndrome, there are treatments that can help alleviate some of the symptoms; however, children should continue these treatments for their entire life.
The best prospects available to treat Rett syndrome include:

  • Physical therapy
  • Speech therapy
  • Standard medical care and medication
  • Occupational therapy
  • Good nutrition
  • Behavioral therapy
  • Supportive Services

Experts conclude that therapy can assist girls with Rett syndrome and their parents. Some girls may be able to go to school and learn sufficient social interaction.
Medicines can treat some of the symptoms with movement in Rett syndrome Medication can also help restraint seizures.
Many girls with Rett syndrome can grow into adults living at least into their middle age. Research is studying women with the disease, which only widely recognized the last 20 years.