What is Rett Syndrome

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.

Brief overview

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.

Loss of hand use (apraxia)

Rett Syndrome’s most typical feature are stereotyped hand movements: wringing, clasping, clapping, tapping and repeated movements towards the mouth. These result in the complete apraxia.

Loss of speech

The vast majority of Rett Syndrome patients is completely non verbal, with widely impaired communication abilities, typically lost around 18 months of age. Some retain a few words.

Reduced motor skills

Most girls with Rett Syndrome never learn how to crawl and walk. Some learn, but partially or entirely forget how to do it after the regression. Some retain some capabilities to walk, with typical ataxic gait.

Rett Syndrome’s progression

Rett Syndrome is a progressive disease, which means that her symptoms will likely get worse over time. The speed at which a Rett Syndrome progresses in a given child and the severity of symptoms she experiences varies from child to child. Typically, symptoms start to become noticeable when a child is between the ages of 1 and 4. During this time, she may exhibit repetitive hand movements, a gradual loss of speech and decreased communication and social interaction.

While problems with physical movement may continue to deteriorate, your daughter may experience improvement in her behavioral symptoms when she’s between the ages of 2 and 10. During this time, a girl may express an increased interest in her surroundings as well as show improvement in alertness, attention span and communication skills. Many girls with Rett syndrome remain in this “plateau stage” for the rest of their lives. Communication and motor skills usually don’t decline past this point. Various forms of rehabilitation available may help patients to improve or maintain motor and cognitive functioning.

Breathing difficulties

The vast majority of Rett Syndrome girls suffers from an array of breathing difficulties, including apnea (breath-holding), hyperventilation (over breathing), air swallowing.

Seizures and disturbed sleeping

Seizures, often drug-resistant, develop in more than 80% of Rett Syndrome patients around 4-6 years of age. Other neurological symptoms are often present such as tremors or disturbed sleeping patterns.

Scoliosis

Osteopoenia, osteophorosis, frequent bone fractures and, most important, scoliosis, are very recurrent features of Rett Syndrome, with onset typically showing around the age of 8 years.

What causes Rett Syndrome

Every child with Rett Syndrome is born with the mutation that causes the disease. However, Rett syndrome most often occurs as a result of a sporadic gene mutation, meaning that it’s very rarely inherited from the parents. Most children with Rett Syndrome have a mutation in the MECP2 gene, although other gene changes (such as deletions or duplications) or mutations in other genes (such as CDKL5 or STK9) can cause Rett Syndrome. The MECP2 gene makes MeCP2, a protein that’s essential for brain development and the normal functioning of nerve cells. MeCP2 regulates other genes in the brain by increasing the activity of other genes and telling them when to turn off and stop producing their own unique proteins. Researchers know that a mutation in the MECP2 gene prevents the MeCP2 protein from doing its job, and disrupts the normal functioing of nerve cells. However, it’s unclear how these mutations lead to the symptoms associated with Rett Syndrome.

Cognitive potential of Rett girls

Rett Syndrome patients are mistakenly believed to have impaired cognitive abilities. Recent studies and vast, direct experience by parents and care givers, have shown irrefutable evicence of the fact that Rett girls have relevant cognitive potential, which needs to be set free from the constraints of conventional communication impairment.

AAC (Augmented Alternative Communication) strategies have shown that Rett Syndrome girls not only have feelings and moods, likes and dislikes, but they have relevant learning and communication capabilities in a variety of proficiencies.

The greatest limit to what Rett Syndrome girls can do..
is what their care givers believe they can do.