What to Know About Rett Syndrome

Rett syndrome can develop when there’s a change (mutation) or glitch in certain genes on the X chromosome. Experts don’t know why this happens. There’s no way to prevent it from happening.

The gene changes can be tiny or large. How serious Rett syndrome is, and what kind of symptoms it causes, depend on the kind of gene changes that took place.

The condition is more common in females because females have two X chromosomes, so they can withstand one of them having a mutation.

On the other hand, males only have one X chromosome (and one Y chromosome). This means that if there’s a mutation on the X chromosome, they may not survive beyond birth.

Even though Rett syndrome is a genetic disorder, it’s not usually inherited or passed down in a family. Most cases happen when there’s a spontaneous change in genes on the X chromosome. Less than 1% of known cases are inherited through family members.

Because the condition is so rare, experts don’t have an accurate idea of how it affects life expectancy. Many people with this condition live well into middle age or longer. It’s not yet possible to make reliable estimates about life expectancy after the age of 40.

Rett syndrome can cause a range of symptoms that vary from child to child. Some symptoms are more severe than others. Signs and symptoms also depend on the specific stage of Rett syndrome.

Early signs and symptoms may look similar to autism behaviors. Babies or children with Rett syndrome might have:

• reduced eye contact
• difficulty feeding or chewing
• teeth grinding
• loss of muscle tone, known as hypotonia
• jerky or stiff arm and leg movements
• difficulty crawling
• walking problems, such as walking on their toes or walking with wide steps
• breathing problems, such as gulping air or holding their breath
• sleep problems
• slowed growth

The four stages of Rett syndrome are based on the development of signs and symptoms that happen as a child or adult with this condition gets older.

Stage 1: Early onset

Babies with Rett syndrome typically have their first symptoms between the ages of 6 and 18 months.

The symptoms in stage 1 can be subtle. You might not notice any changes. Your doctor might not notice at this stage, either. The first stage may last for a few months or more than a year.

During the early onset stage, your baby’s motor, language, and intellectual development and skills may slow down a bit. They may show:

• reduced eye contact
• slowed overall growth
• loss of or delay in sitting and crawling skills
• loss of interest in toys and games

Stage 2: Rapid stage

Stage 2, or the rapid stage, usually begins between the ages of 1 and 4 years. In this stage, changes may happen quickly. This stage might last for a few weeks to months.

In the rapid stage, your child typically loses some language skills and development milestones, such as:

• spoken language
• communication skills
• social skills
• hand movements
• walking skills
• motor movement
• slowed head growth
• breathing changes, such as snoring and fast breathing (hyperventilation)

During this stage, some children may also start to show a characteristic hand-motion sign of Rett syndrome.

This can look like a constant handwringing, handwashing, tapping, or clapping motion. You might notice that your child repeatedly moves their hands to their mouth, and holds their hands behind their back or at their sides with random grabbing and releasing.

Stage 3: Plateau

Stage 3 can begin between the ages of 2 and 10 years and last for many years. This is called the plateau or pseudo-stationary stage because the symptoms often stay the same for a long time.

Some people with Rett syndrome remain at stage 3 for most of their lives.

You might notice some improvement in your child’s behavior at this stage. Some children show less crying, irritability, and autistic-like behaviors. They may also have:

• more alertness
• longer attention span
• better communication skills

Some kids also have movement problems and seizures during this stage.

Stage 4: Late stage

Stage 4 can also last for years to decades. It’s called the late motor deterioration stage because your child may start to have reduced motor skills.

This might involve difficulty with walking and posture because of muscle weakness, stiffness, and spasms. Some people may also develop a curved spine, known as scoliosis.

Regular checkups with your child’s pediatrician are important from birth. Tell them if you notice any changes in your baby’s development or have any concerns. They are here to help you and your baby.

Babies all grow and develop at different paces, but there are several important milestones, like sitting up by themselves and saying their first words.

Doctors will look out for and keep track of several signs and symptoms during a child’s early growth and development. They may also test a child’s brain and nerve function by checking things like hand strength and motion.

If your pediatrician suspects Rett syndrome, they will use a genetic test to make the diagnosis. Your child will also see a pediatric neurologist, which is a brain and nerve specialist, and a clinical geneticist to confirm the diagnosis.

Doctors must go through strict and careful checklists before confirming a genetic disorder like Rett syndrome. Regular doctor visits are also necessary for a child or adult with Rett syndrome to help them manage the condition.

While there’s no current cure for Rett syndrome, there are many treatment options. With the help of a team of doctors and other healthcare professionals, caregivers can help their child manage their symptoms and improve their quality of life.

Treatment varies between people and depends on what symptoms they have. They might include:

• medications to help with breathing difficulties, seizures, and movement
• other support, such as physical, speech, and occupational therapy, to help improve daily activities like communication, dressing, and eating
• mobility equipment like braces, splints, and wheelchairs
• customized nutrition to help with eating preferences and ensure adequate weight gain
• special education, social, and vocation classes

If you’re a caregiver for someone with Rett syndrome, it’s important to look after yourself, too. It can feel overwhelming at times, especially if you haven’t done it before. But rest assured — you’re not alone.

The Caregiver Action Network offers some useful tips for looking after yourself while caring for a loved one:

• Seek support from other carers to share your experiences, learn tips and tricks, and find a sense of community. This might be through friends or online support groups.
• Accept offers of help, and give people suggestions for how to help you. This doesn’t always feel easy, but it can help lighten your load, both mentally and physically.
• Organize any paperwork to make sure it’s accessible and easy to find. Putting in a bit more time at the start to make sure this is organized can pay off further down the line.
• Caregiving is hard work, so take breaks often, and do your best to be kind to yourself.

It takes a village to raise a child, especially one who needs more support. If your child has Rett syndrome, there’s help and support available.

Caregivers for children with rare conditions like Rett syndrome may feel lonely, stressed, and overwhelmed at times. This can include parents, siblings, grandparents, relatives, and other caregivers.

You don’t have to do it alone. Ask your pediatrician where to get resources, and reach out for help in your local area.

There are several organizations that may offer information, in-home care, medical equipment, financial assistance, and social support. The following list may be a good starting point:

• RettSyndrome.org
• Rett Syndrome Research Trust
• Rare Disease Caregiving
• National Organization for Rare Disorders
• International FOXG1 Foundation
• Children’s National
• CHOC Children’s
• Genetic and Rare Diseases Information Center
• Girl Power 2 Cure
• Rare Diseases Clinical Research Network