What Is Rett Syndrome?

Rett syndrome is a rare genetic condition that almost exclusively affects those assigned female at birth. It is a neurodevelopmental disorder, which means it affects the functioning of the brain, spinal cord, and system of nerves and cells that communicate messages between them and the rest of the body.

Rett syndrome causes physical, mental, and behavioral problems, as well as seizures. There is no cure for Rett syndrome, but various therapies can help manage its effects.

This article explores the symptoms of Rett syndrome, how it diagnosed and treated, as well as strategies for coping with everyday life.

Rett Syndrome Symptoms

The symptoms of Rett syndrome are usually not present at birth, but do begin early on in life. The exact age varies from child to child.

Some subtle symptoms can begin before a child reaches the age of 1, and more noticeable symptoms begin between ages 3 and 5.

Symptoms of Rett syndrome can range from mild to severe. They may be regressive, meaning certain skills that were gained are then lost. Others may become evident when kids do not attain the physical, cognitive, and social abilities expected for their age.

Lack of Physical Movements

Sometimes, babies with Rett syndrome may not be as physically active as is expected for their age. They may not roll over or use their hands or kick their legs as actively as typical babies.

The lack of physical activity can begin around age 1 or sooner, though it is not always noticeable. There is typically a decline in activity between ages 2 and 5.

Lack of Eye Contact

One of the earliest symptoms can be a lack of eye contact, which can begin before the age of 1. Parents who are not already familiar with infant behavior may not notice this.

The lack of eye contact can be mistaken for a sign of autism.

Lack of Social Interaction

Children with Rett syndrome may lose interest in communicating or otherwise interacting people, including siblings and parents, and may not pay attention to others.

Though they may not usually display a strong emotional attachment to their parents, children with Rett syndrome may become agitated or frightened when they are absent.

Developmental Regression

Children may begin to learn to speak only to appear to lose their language and communication abilities.

Likewise, they may begin to use their hands purposefully, but may lose this ability in early childhood.

Developmental Delays and Deficits

Children who have Rett syndrome struggle with learning and motor skills. They may not, for example, be able to play video games or understand how to play with puzzles or blocks the way children their own age do.

Lack of Problem-Solving Abilities

Often, those with Rett syndrome have difficulty learning how to problem solve and approach challenges small or large either with passivity or temper tantrums.

Language Impairment

Kids who have Rett syndrome often speak at a 2- to 3-year-old child's level their whole lives.

They are also only able to understand simple speech and instructions.

Loss of Purposeful Hand Movements

Most children who have Rett syndrome learn to use their hands and then lose this ability.

Despite the fact that they typically maintain normal motor strength, their hand movements become random and uncontrolled instead of intentional.

Repetitive Movements

With changes to the ability to use their hands, children begin to engage in repetitive hand wringing or squeezing movements.

They also often develop other repetitive and purposeless movements, such as tapping, clapping, or rubbing.

Walking Difficulties

Children with Rett syndrome can have difficulties with walking and balance. They may stay on their toes as they walk or have an unsteady and wide, stiff-legged walk.

Loss of Appetite and Eating Problems

Children may have a small appetite or an aversion to food. They may have trouble chewing and swallowing. Malnutrition can occur.

Sometimes a child may become hungry and eat more than usual or have an increased interest in a certain type of food for a few weeks, but this typically doesn't last.

Physical Differences

There are several physical findings that are common among children with Rett syndrome.

In general, children with Rett syndrome are shorter, smaller, and weigh less than average for their age or what would be expected based on their family history. Head circumference is also smaller among children with Rett syndrome.

Your child may also have low muscle tone (hypotonia) and/or a noticeable curvature of the spine known as scoliosis, which can become disabling as they get older.

Sleeping Problems

Sleeping problems are very common in those with Rett syndrome.

Young kids tend to wake up at night or scream or excessively laugh during sleep. Older children have an increased tendency to have seizures during sleep or fall asleep during the day.

Breathing Problems

Often, a child with Rett syndrome can have episodes of slow or rapid breathing. This is normally not life-threatening. In rare instances, however, a person with Rett syndrome may need respiratory support.

If you are concerned about changes in your child’s breathing patterns, talk to their doctors about it.

Seizures

Many children who have Rett syndrome experience seizures. They can include:

• Generalized tonic-clonic seizures: These involve shaking of the body and usually an impairment of consciousness with diminished or no response during the seizure. Typically, there is a period of decreased responsiveness after the seizure as well.
• Absence seizures: These are periods of staring and unresponsiveness. They occur without moving, shaking, or deliberate movement of the body. They can occur while a person is sitting or lying down, and they can go unnoticed.
• Myoclonic seizures: These are characterized by brief jerking of the body, often with some impairment of consciousness.

A child may experience one or more of these types of seizures, and the frequency can vary.

If your child has seizures, you will learn to recognize their aura, or pre-seizure appearance and behavior, and you may be able to prevent a seizure with medication.

Causes

Rett syndrome is almost always caused by a genetic mutation in the methyl CpG binding protein 2 (MECP2) gene located on the X chromosome.

The mutation is believed to cause a deficiency of protein function. The result? Cells in the brain and elsewhere in the body can't carry out their normal functions, including properly communicating between nerves. This produces the widespread symptoms that characterize Rett syndrome.

The mutation usually occurs randomly. It is inherited, or passed down from one generation to another, in only about 1% of cases.

The syndrome is autosomal dominant, which means a child only has to have one X chromosome with the mutation to be affected.

Those assigned female at birth have two X chromosomes. If one carries the mutation, there is another to compensate for the error.

But those assigned male at birth have an X and a Y chromosome. Their lack of a "backup" X chromosome is why Rett syndrome is more severe in these children.

In rare cases, boys may have a different mutation on the MECP2 gene that causes intellectual disability and developmental problems.

Diagnosis

Rett syndrome is a clinical diagnosis based on three types of clinical criteria:

• Main: The main criteria for diagnosing Rett syndrome are the symptoms listed above, such as partial or complete loss of purposeful hand skills, loss of previous ability to speak and communicate, repetitive hand movements, and/or walking difficulties.
• Supportive: Additional factors, such as low muscle tone and genetic test results, can support a diagnosis but are not required.
• Exclusion: As part of the process, doctors must definitively exclude other disorders that can produce similar symptoms. Diagnosis of other conditions allows a physician to rule out Rett syndrome.

Physical Exam

A doctor will look for the physical signs of Rett syndrome.

They will examine and observe your child for signs of diminished muscle tone.

They will also measure and weigh your child and compare the results to what's expected for their age and family history; there are no numerical values that confirm the diagnosis, however.

Scoliosis can be detected with examination of the spine while the child is bent forward. A tool called a scoliometer is used to measure the extent of a curve, if present. If greater than 5 to 7 degrees, scoliosis is confirmed.

These features do not have to be present in a patient with Rett syndrome, but they support the diagnosis.

Genetic Testing

A genetic test can identify the MECP2 gene mutation on the X chromosome. This is done using a blood sample.

Having the gene mutation does not confirm Rett syndrome, but it is supportive of the diagnosis.

The MECP2 mutation can be present with PPM-X syndrome, neonatal encephalopathy, and autism-like conditions, which are all neurodevelopmental disorders that do not fit the criteria for Rett syndrome.

Other Tests

Other disorders that may initially appear similar to Rett syndrome include:

• Autism
• Cerebral palsy
• Angelman syndrome
• Lennox-Gastaut syndrome (LGS)
• Encephalitis (inflammation of the brain)
• Childhood metabolic disorders
• Brain injury

Doctors may perform the following tests to rule out such concerns before reaching a diagnosis of Rett syndrome:

• Blood tests and lumbar puncture: While there are no specific results associated with Rett syndrome, blood tests and lumbar puncture are typically done when symptoms are present. These tests can help determine whether an infection or metabolic disorder could be causing the symptoms.
• Brain imaging tests: In general, brain imaging tests are normal in those who have Rett syndrome. Abnormal findings may indicate conditions such as encephalitis or brain malformations.

Treatment

There is no specific treatment for Rett syndrome itself, but it is important that your child receive treatment for related seizures.

They may also benefit from cognitive and physical therapy to optimize related functions as much as possible.

Treatments used for children with Rett syndrome include:

• Anti-seizure medications: There are a number of anticonvulsants that may be recommended. The one that may work best depends on the type(s) of seizure being treated. These drugs must be taken on a regular schedule. If a child is resistant to taking medication by mouth, you may need to rely on an injectable option.
• Physical therapy: Therapy can help with muscle tone and to help prevent sores and muscle contractions that may develop due to lack of use.
• Occupational therapy: This is therapy to help children learn or try to maintain self-directed activities, such as dressing and feeding themselves.
• Speech and language therapy: This can help families develop means of nonverbal communication, as well as work on improving the child's verbal abilities and social skills.
• Scoliosis treatment: This can include support braces or surgical treatment. Surgery for scoliosis may involve placement of a rod to support the spine, which helps prevent the mobility problems that can result from scoliosis.
• Hydrotherapy: Activities in water can sometimes help improve hand skills and posture or to prolong their mobility.
• Nutritional supplementation: The combination of low appetite and difficulty communicating can result in nutritional deficits. If necessary, you may need to provide your child with high-calorie nutritional supplements, such as shakes or protein bars. Sometimes, kids with Rett syndrome may need temporary placement of a feeding tube to maintain nutrition during bouts of particularly low appetite.

Coping

If your child has or may have Rett syndrome, then you know that this is a challenging situation.

They will need help and support for their basic needs throughout life. They may not show attachment and may seem cold and indifferent to close caregivers while outright rejecting others who try to step in or provide medical care.

As you navigate all of this, work to develop effective communication with your child’s medical team. Often, clinics—which regularly take care of kids and adults with neurodevelopmental disorders—have a system in place for troubleshooting serious versus minor problems.

Your child will also benefit from attending a public or private school that offers added resources and services, such as physical therapy or speech-language therapy, during the school day. It's also helpful to maintain contact and collaborate with teachers and school aides.

You can also get help caring for your child from home health aides who can come to your house to assist you.

If the care becomes more involved and challenging, you may need to find a residential care facility so that your child can get professional care on a day-to-day basis. This decision is never easy, but you may find that it is in your child's best interest.

Summary

Rett syndrome is a neurodevelopmental disorder linked to a spontaneous mutation on the X chromosome. It almost exclusively affects those assigned female at birth.

Children with Rett syndrome typically have a period of age-appropriate development followed by a regression or loss of motor and communication skills. When the symptoms begin and their level of severity ranges from child to child.

There is no direct treatment for Rett syndrome, but medications are often given for seizures. Physical therapy, cognitive therapy, back supports, and other treatments may help prolong functioning and mobility.

A Word From Verywell

You may find that you're physically exhausted from tending to your child's everyday needs, as well as mentally drained from arranging for health and educational resources, dealing with social challenges, and more.

Remember to take care of yourself so you can take the best care of your child. You may find it beneficial to connect with caretaker support groups. Members can share advice and help you feel less alone in your struggles.