Most people do not know about Rett syndrome as it's a rare developmental and genetic neurological disorder that affects the brain. Rett causes a noticeable and gradual loss of speech and motor skills. Primarily, this disorder affects girls. In most cases, the syndrome symptoms develop during the initial 6 to 18 months of age. This syndrome causes them to lose their ability to use their hands, communicate, walk, or crawl.
Here are some of the facts related to Rett Syndrome
Andrea Rett discovered Rett Syndrome in 1966, but the syndrome was widely recognized in 1983.
The oldest person to live with a Rett Syndrome was 77 years of age.
It mostly affects females.
The gene that causes Rett syndrome is MECP2, which a mutation in it will result in Rett syndrome.
It gradually affects all body movements.
Females with Rett Syndrome are fertile and will have a monthly period.
Most people suffer from Rett syndrome will live into their 50's, depends on how severe Rett syndrome affect them.
In most of the Rett syndrome cases, the cause is a de novo mutation in the child. Meaning, it's a new and not inherited mutation.
Living with Rett Syndrome
With time, kids suffering from Rett syndrome face increasing problems when they communicate or coordinate. It even becomes difficult to use muscles that control body movements. Some of the major issues caused by Rett syndrome are intellectual disability, seizures, and abnormal hand movements, for example, clapping or repetitive rubbing.
Even though there is no treatment present for Rett syndrome, studies are going on potential treatments. Presently, treatment for this syndrome focuses on the treatment of seizures, improving communication and movement, and providing support and care for adults and children suffering from this condition.
Rett Syndrome Causes
Since this condition is a rare genetic disorder, this disease with milder or very severe symptoms occurs due to the specific genetic mutation. There are only a few cases that show the inheritance of this genetic disorder. The mutation leads to issues with the production of protein necessary for brain development. However, still, the exact cause of this condition has not been discovered yet and is still being studied.
Complications for a child with Rett Syndrome
Following are the complications faced by people suffering from Rett syndrome:
Required assistance with daily activities and lifelong care.Problem behavior and anxiety that may hamper social functioning.Problems in joints, bone, and muscles.Pain that comes with bone fractures and gastrointestinal issues .Problems while sleeping.Difficulty in eating, which results in delayed growth and poor nutrition .Bladder and bowel problems, including gallbladder disease, urinary or bowel incontinence, GERD (gastroesophageal reflux disease) and constipation.
Rett Syndrome Treatment
There is no remedy for this disease. Still, treatments are given to remedy and ease the symptoms that are caused due to Rett Syndrome. Children suffering from this condition have to get treatments, such as supportive services, behavioral therapy, proper nutrition, occupational therapy, speech therapy, physical therapy, and standard medical care for their entire life.