How Rett Syndrome Affects the Brain

When someone has Rett syndrome, their brain cells that developed before birth aren’t functioning as expected. Instead, these cells may mature more slowly or remain underdeveloped — a phenomenon that can affect brain function and, ultimately, a person’s quality of life.

Most of these abnormalities and developmental delays that occur with Rett syndrome experience are influenced by changes in the MECP2 gene. This gene is mainly responsible for helping a person’s brain cells turn other genes off and on at the right time.

But when this gene is not operating like it should, it can affect a person’s brain function, resulting in difficulty talking, eating, moving, and interacting with others. Here is what you need to know about Rett syndrome and how it impacts the brain.

How Rett Syndrome Affects the Brain

The brain is what guides a person’s learning, memory, feelings, and cognition (mental processes related to knowledge). It also directs language development, coordination, walking abilities, and social interactions. Even biological functions like a person’s heart rate, breathing, sleep patterns, body temperature, and hunger cues depend on the brain’s function. But when brain development is interrupted at a young age, all of these roles can become impaired. This is why Rett syndrome can be such a debilitating condition.

People with this neurodevelopmental disorder do not experience sensations, moods, and motor skills like other people. They often can’t use their hands well and have difficulty speaking. Some may even be completely nonverbal. Their breathing and heart function can also be impacted; and they may have trouble chewing and swallowing. This condition ultimately affects every system in a person’s body.

What Causes Rett Syndrome To Impact the Brain

Rett syndrome affects around 1 in 10,000 women, according to Texas Children’s. It usually appears around 6 months to 18 months of age. Scientists believe this condition is caused by a gene mutation (change) to the MECP2 gene on the X chromosome. This mutation affects the body’s production of methyl-CpG binding protein 2 (MePC2), a protein in the nervous system responsible for brain development and maturation.

In most cases, the MECP2 gene functions as a switch in the body activating and deactivating different functions. But in people with Rett syndrome, this gene doesn’t work properly because people either have too little of the MePC2 protein or what they do have doesn’t function correctly. It’s this malfunction that then leads to intellectual (thinking and learning) and developmental disabilities seen in Rett syndrome.

Interestingly, not everyone with an MECP2 mutation will have Rett syndrome. Researchers speculate that the condition’s appearance and severity can be influenced by a variety of different factors. For instance, Rett syndrome may be caused by mutations in specific parts of the MECP2 gene, partial gene deletions, or even other genes that haven’t been identified yet. Environmental factors may also contribute to the condition’s severity. Even where the MECP2 gene is located, how the person’s individual sex chromosomes interact, and its interaction with other genes can influence how severe the condition is.

And while Rett syndrome is a genetic disorder, it isn’t typically inherited. The MECP2 gene mutations are random changes to a person’s genetic code that may occur around the time a baby is conceived. These mutations also aren’t caused by anything the parents did or didn’t do during pregnancy.

How Brain Function Changes Over Time

When a person has Rett syndrome, their brain function will change over time and can disrupt their movement, communication, and breathing control at varying degrees. For some people, the condition may appear to occur in stages, while others may have a different progression.

In the beginning stages of the condition, babies may lose interest in their toys and make less eye contact — even with their parents or caregivers. They may also regress or lose skills they’ve already developed. They may have delays in sitting, standing, or crawling or appear to lose these abilities as the months pass.

As their brain function continues to slow down, they may also start to scream or cry for no reason, hyperventilate, and have trouble with movement, balance, and coordination. They may also no longer interact with or attempt to communicate with others. Their pediatrician may also note that their head growth is slowing down or that their head is smaller than other children their age.

When the child is between 2 and 10 years of age, they may start to cry less frequently and show some improvement in their hand use and communication. But their issues with movement and balance continue. They may also start to experience seizures sometime after their second birthday.

Once the person reaches 10 years old, their neurological decline may slow down or stabilize. Their seizures may also become less frequent and their hand skills may improve.Their eye contact, communication abilities, and social interactions may also get better. However, they may still grind their teeth and have breathing irregularities. Likewise, their movement issues often continue. And they may develop muscle weakness, spine issues like scoliosis, and joint concerns.

Impact and Consequences of Rett Syndrome

Overall, many consider Rett syndrome a spectrum disorder, much like autism is a spectrum disorder. This means that there’s a wide range of symptoms, skills, and levels of impairment that people can experience.

Each person with the condition is unique and will have varying levels of communication and movement ability. Some people may have severe impairment, while others can learn to perform basic self-care with some assistance. Some may even be able to run, though most of the time, Rett syndrome is debilitating.

It’s also important to note that Rett syndrome is not a degenerative disorder. In other words, despite needing hands-on care for life, many people with this neurological disorder can live well into adulthood, as long as they don’t experience any complications like heart issues, pneumonia, or epilepsy. Overall, the life expectancy for people with Rett syndrome is difficult to calculate, but some health experts indicate many people with the condition live into their 40s and sometimes beyond.

Brain-Related Symptoms To Watch For

Children who are born with Rett syndrome often appear typical during the first few months of their lives. They may even learn to crawl and babble. But sometime between the ages of 6 months and 18 months, they begin to regress developmentally and lose some of the skills they had learned. In other words, they may no longer be able to crawl and their babbling may cease.

Parents may also notice that their child begins missing developmental milestones. They may also have floppy arms and difficulty eating. They may even have seizures and make repetitive hand movements. Other symptoms to watch for include:

• Slowed head growth or microcephaly (smaller head size)
• Breath holding and hyperventilation
• Trouble controlling eye movements
• Difficulty maintaining eye contact
• Problems moving or walking, including walking on toes
• Loss of muscle tone
• Jerky or repetitive hand movements
• Sleep disturbances
• Digestive issues, including difficulty chewing and swallowing

It’s important to contact a healthcare provider for a diagnosis anytime there are concerning symptoms or a person is having difficulty completing tasks that would be expected for their age. Healthcare professionals can answer questions and perform genetic testing.

If a diagnosis of Rett syndrome is made, they can put together a customized treatment plan that may include physical therapy, occupational therapy, medication like trofinetide (Daybue), and monitoring for scoliosis and heart complications.

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On MyRettTeam, people share their experience with Rett syndrome, get advice, and find support from others who understand.

If you know someone with Rett syndrome, what types of therapies or treatments have best supported their brain development? Let others know in the comments below.