On the Lookout for Rett Syndrome: When to Talk to Your Child's Doctor

This article is for parents and caregivers of children who are living with Rett syndrome, or anyone who wants to learn more about Rett syndrome. The goal of this activity is to help you talk to and work with your child's doctor about what to look for with Rett syndrome and developmental milestones.

You will learn about: 

• What Rett syndrome is

• Rett syndrome and genes

• How Rett syndrome symptoms may appear in stages

• Finding or diagnosing Rett syndrome

• Identifying Rett syndrome early on

• Questions to ask your child's doctor and healthcare team

Rett syndrome is a rare genetic condition that affects the way the brain develops. It is both neurological (brain and nerves) and developmental, which means it can affect a child's physical abilities, learning, language, and behavior. 

Rett syndrome is caused by a gene mutation, or a change in the information inside cells that determines traits or characteristics. In Rett syndrome, this gene mutation almost always happens randomly or by chance.

The gene mutation in Rett syndrome usually happens on the MECP2 gene found on an X chromosome. 

Most people have a pair of sex chromosomes in each of their cells. Males typically have 1 X chromosome and 1 Y chromosome. Females typically have 2 X chromosomes, with only one of them being active in the cell. 

Rett syndrome is usually found in girls. Because female children have 2 X chromosomes, if 1 of the chromosomes has a gene mutation, some cells can still have a gene that doesn't have the mutation. But since males only have 1 X chromosome, if the gene mutation happens, the child often doesn't survive past birth.

Rett syndrome symptoms can vary and may be very subtle and hard to spot early on. Most babies will appear to grow, develop, and hit their milestones as expected during their first 6 months. 

When symptoms happen can also vary, but the most common ones tend to appear between the ages of 12 and 18 months. They can also appear suddenly or happen slowly. 

Over time, children may begin to have problems with the muscles controlling their movement and coordination. They may also start losing certain skills, like their ability to crawl, walk, communicate, or use their hands.

Symptoms can include: 

• Slowed or delayed growth

• Problems with thinking, learning, understanding, and communicating (language, speech, eye contact)

• Staring, blinking

• Hand movements such as repeated rubbing, squeezing, tapping, or clapping

• Irritability and crying

• Less interest in other people, toys, or their surroundings

• Breathing problems

• A small head (microcephaly)

• Seizures

• Muscle weakness or stiffness

Rett syndrome symptoms often happen in 4 stages, which may sometimes overlap: 

• Stage 1 or early onset starts between 6 and 18 months old and can last for a few months or a year. Babies may have less eye contact, delays in sitting or crawling, and less interest in toys

• Stage 2 or rapid deterioration starts between 1 and 4 years old. Children can lose skills they already had (including communication) over weeks or months and may have slowed head growth, unusual hand movements, screaming or crying for no reason, and problems with movement and coordination

• Stage 3 or plateau usually starts between 2 and 10 years old and may last for years. Behavior, hand use, and communication may improve, but problems with movement can continue and seizures may happen

• Stage 4 or late motor deterioration usually starts after 10 years old and can last for years. Understanding, communication, and hand skills often become stable or improve and seizures may happen less often. But muscle weakness, joint and spine problems, and a lowered ability to move can happen

Your child's doctor will watch their growth and development and check their physical and neurological function over time. Ask them about which growth and developmental milestones your child should reach and when. Observing and tracking them so you can keep a record of their progress over time is important. Be sure to also record any unusual behavior you notice. 

To help check for Rett syndrome, your child's doctor may recommend genetic testing (a blood test) to look for changes in the MEPC2 gene. They may also recommend other tests and talking to other healthcare team members. Genetic counselors can help you understand the result of the genetic testing and a developmental pediatrician and pediatric neurologist can help with your child's diagnosis and care plan.

Tell your child's doctor if you notice any loss of skills, physical problems, or changes in their behavior, especially if they happen after your child has already reached any growth and developmental milestones. 

While there's no cure for Rett syndrome, finding it early can help you get the care and support you and your child need. Having open and honest communication and being comfortable with your child's doctor and healthcare team is important. You should feel empowered to ask questions and advocate for your child's needs and care.

Questions you can ask about Rett syndrome can include: 

• What growth and developmental milestones should we be tracking and recording?

• How is Rett syndrome found or diagnosed?

• What are the stages of Rett syndrome and what symptoms should we look for and when?

• Are there specialists or other healthcare team members we should see?

• Is there a support group we can join?

• Where can I find more information and resources?

Congratulations!

You have successfully completed the program On the Lookout for Rett Syndrome: When to Talk to Your Child's Doctor.

View Additional Materials on this topic that you may find useful:

Rett Syndrome

Rett Syndrome -- National Institutes of Health (NIH)

Rett Syndrome Diagnosis and Treatment

Living With Rett Syndrome