The 4 Stages of Rett Syndrome: What To Expect as It Progresses

Rett syndrome is a rare genetic neurodevelopmental disorder that mostly affects girls, according to Cedars-Sinai. Rett syndrome symptoms can fluctuate over time, and the condition progresses through stages, which provide a framework for parents and caregivers to know what to expect for their children living with Rett syndrome.

Rett syndrome stages aren’t exactly the same for every child. Some children don’t experience every stage, and symptoms can range from mild to severe. Nevertheless, staging your child’s Rett syndrome can help you understand what might come next for your child. Keep reading to learn about the stages of Rett syndrome and how to identify each one.

The Stages of Rett Syndrome

Each Rett syndrome stage comes with distinct challenges and changes you might notice in your child. In most cases, symptoms of Rett syndrome start to appear at around 6 months of age. Before that point, it usually appears as if your child’s brain development is typical and that they’re reaching developmental milestones on time.

Stage 1

Your child enters stage 1 of Rett syndrome once the first developmental delays start, though you might not notice them right away. This stage, also called the early-onset stage, can last for a few months to up to a year.

Some babies 6 months to 18 months old with stage 1 Rett syndrome may not crawl or sit up during the expected time frame for these developmental milestones. They might not make eye contact either, which is another hallmark sign of Rett syndrome.

As a parent or caregiver, you might experience some challenges with feeding your child with stage 1 Rett syndrome. Additionally, you may notice your child has low muscle tone (muscles that feel floppy or weak).

Many of the signs of stage 1 Rett syndrome are subtle, and they can go unnoticed for some time if you don’t know what to look for. As soon as you notice possible developmental delays, be sure to let your child’s pediatrician know. Diagnosing Rett syndrome as early as possible allows you to start treatment quickly, which can lead to better treatment outcomes.

Stage 2

Stage 2 Rett syndrome is also called the rapid destructive stage or the rapid progressive stage and usually occurs between ages 1 and 4.

Up until this point, your child may have already met some expected milestones — they may know a few words or sentences, and they may be able to use their hands to grab objects. Your child may start to lose skills like these during stage 2, which can take days, weeks, or months.

Beyond the noticeable loss of learned skills, children with stage 2 Rett syndrome may have some other distinctive symptoms:

• Sudden crying or screaming
• Frequently wringing their hands or making repetitive hand movements
• Loss of interest in socializing and playing
• Increased anxiety, irritability, or panic attacks
• Delayed head growth
• Balance problems

For many caregivers and family members, stage 2 is the most challenging Rett syndrome stage. It remains important to work closely with your child’s healthcare providers during regular checkups so they can monitor your child and help manage symptoms.

Stage 3

Stage 3 typically starts between ages 2 and 10 and can go on for years. Also called the plateau stage or pseudo-stationary stage, stage 3 involves far less regression than the earlier stages. Your child’s health stabilizes, and they may become calmer, less anxious, and more aware. Generally, children in stage 3 are also more alert and communicative.

Your child may still have some speech and motor issues during stage 3, but they may also become more engaged in their treatment. Assistive devices like communication devices and walkers can give your child some extra support.

Although stage 3 involves some stabilization, seizures become more common in stage 3. Epilepsy, a condition related to Rett syndrome, affects up to 80 percent of children with Rett syndrome. Epileptic seizures occur when there is a surge of electrical activity in the brain and can lead to a temporary loss of consciousness.

Some children with Rett syndrome will stay in stage 3 for the rest of their lives. No matter how long it lasts, stage 3 treatment focuses on helping a child maintain their skills and abilities while keeping them comfortable.

Stage 4

The fourth and final stage of Rett syndrome is called the late motor deterioration stage. It can occur anytime after stage 3 — usually when a child is 10 or older — and can last for decades.

During stage 4, a child with Rett syndrome usually keeps the cognitive and communication skills that lasted through stages 2 and 3. However, other abilities may start to decline. Motor skills like walking independently and controlled muscle movements may no longer be within your child’s ability.

If your child has epilepsy, the seizures continue during stage 4. Many children with Rett syndrome also experience problems related to scoliosis (abnormal curvature of the spine) during this time. Scoliosis worsens because of reduced muscle tone and muscle weakness and can make walking even more challenging.

Stage 4 Rett syndrome treatment focuses on managing symptoms and health complications to maintain your child’s quality of life. Your child’s care team might encourage family members and loved ones to continue providing emotional support as they experience changes in stage 4.

How Rett Syndrome Progression Affects Everyday Life

Even if you have some familiarity with Rett syndrome stages, the changes that occur during these stages might catch you by surprise. A child’s needs can change dramatically, so it’s important to work closely with your child’s care team for a personalized treatment plan.

For Children With Rett Syndrome

When someone with Rett syndrome progresses from one stage to another, they might experience anxiety around their changing needs. Symptoms like breathing problems, seizures, and sleep disturbances may worsen their anxiety and have a significant impact on their quality of life.

It’s crucial to observe your child’s communication, even if they’re nonverbal. You may be able to support your child with adaptive technology that helps them maintain as much independence as possible. Additionally, your child will require regular checkups so their treatment plan can change based on their needs.

You can expect your child to need ongoing care and assistance with everyday tasks. Most children with Rett syndrome also require special education assistance while in school, even if their symptoms have stabilized.

For Caregivers

Parents and caregivers might experience stress or confusion as a child’s Rett syndrome progresses. It’s important to seek support if you need it. Online communities like MyRettTeam, counseling services, and support groups can all connect you with people who understand and can offer advice.

Talk to Your Doctor

Talk to your child’s pediatrician if you notice any changes in your child’s Rett syndrome symptoms, even if those changes seem like improvements. Your pediatrician can determine which stage of Rett syndrome your child is at and recommend treatment based on the stage and severity.

As with most developmental conditions, early treatment makes a big difference. If you notice your infant isn’t hitting developmental milestones as expected, talk to their pediatrician. They can recommend diagnostic testing to rule out other possible causes. Rett syndrome is diagnosed based on your child’s signs and development, and genetic testing can help support the diagnosis. Many children with Rett syndrome have a change in the MECP2 gene, but doctors may also test other genes if your child’s symptoms suggest a different Rett-like condition.

Join the Conversation

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

Which stage of Rett syndrome is your child in? Let others know in the comments below.