Imagine you can’t control any more your breath, that it may at times hold until you collapse, you can’t control your body, that is shaken by tremors and seizures, nor your mouth, that stops masticating and swallowing. Imagine that you are all of a sudden unable to say a single word to ask for help or explain what you feel. Can you think of anything more scary? Unfortuntely yes.. Imagine all of this happens, suddenly, to a child. Worse, a 2 years old little girl. And imagine there is no cure for this.
It sounds like the worst possible nightmare, and it is: it is named Rett Syndrome, and this is what approximately 300,000 thousand little girls, teenage girls and adult women are experiencing all over the world.
And their families with them.
Rett Sindrome is a genetic disorder of the nervous system that causes a regression (loss) of language and motor skills. The syndrome is considered one of the autism spectrum disorder (ASDs), although it has many other specific features that set it almost completely apart according to most recent classifications.
Rett Syndrome is a neurodevelopmental disorder that’s characterized by a child’s impaired ability to physically perform purposeful movements. Children with Rett syndrome also exhibit autistic behaviors such as impaired social interaction and communication. They often have normal development during the first six to 18 months of life, followed by later loss (regression) of language and motor skills.
Rett syndrome is caused by a mutation that occurs on the X chromosome. Males born with the defective gene usually don’t survive childbirth because they don’t have the additional X chromosome needed to make up for the problem. Rett syndrome is most often misdiagnosed as autism, cerebral palsy or a non-specific developmental delay since the conditions share similar physical and mental symptoms.
Rett syndrome occurs in about one out of 10,000 to 15,000 children and affects girls almost exclusively. Life expectancy depends on when symptoms first begin and their severity. On average, most people with the condition survive into their 40s or 50s. Although there’s currently no cure for Rett syndrome, in many cases the physical symptoms can be alleviated and managed by occupational therapy and physical therapy.