10 Rett Syndrome Symptoms, Signs, and Key Characteristics

Rett syndrome symptoms don’t usually show up until a child is at least 6 months old. Until then, their growth and development may seem typical. Over time, delays in growth and brain development become clearer. These are often the first signs of Rett syndrome. Rett progresses through four stages. Not every child with Rett syndrome will go through every stage, but understanding the stages can help you know what symptoms to expect.

Rett syndrome is a genetic disorder that can affect walking, speaking, eating, and breathing. It requires lifelong care and support. According to Mayo Clinic, it mostly affects girls. Rett syndrome is much rarer in boys and can be more severe.

In this article, we’ll go over some of the most common signs, symptoms, and key characteristics you might see in a child with Rett syndrome.

1. Delays in Growth and Development

Developmental delays are some of the first symptoms that parents and caregivers of children with Rett syndrome observe. As your baby grows, a pediatrician or other healthcare provider might note that their height, weight, or head size is not increasing as expected. Your child might also miss developmental milestones, like crawling or sitting up on their own.

Milestones your child reached before 6 months, like grabbing toys or rolling over, may be lost as Rett symptoms begin. If your child loses skills they had already learned, tell your pediatrician right away.

2. Loss of Speech

Many children with Rett syndrome lose some or all of their ability to speak, but that doesn’t mean they can’t communicate. Speech therapy and assistive communication devices can help.

3. Seizures

Epilepsy is a condition related to Rett syndrome and a common complication. Seizures are common in Rett, especially as children get older, but not every child gets them. The age when seizures start — and how often they happen — can be very different from one child to another.

Seizures happen because of an unusual surge of electrical activity inside the brain. They can cause your child to lose consciousness for a short time and may cause twitching or jerking. Signs of a seizure can be similar to other Rett symptoms. Children with Rett syndrome who have seizures may also have more severe symptoms.

Seizures in children with Rett syndrome vary in severity and may be manageable with anti-seizure medications. About half of children with Rett syndrome and epilepsy have drug-resistant seizures, which means they don’t respond to medications.

4. Repetitive Hand Movements

You may notice your child repeatedly moving their hands in a certain way. Perhaps they wring their hands, clap often, or squeeze their fists. Involuntary, repeated hand movements like these are common in children with Rett syndrome and may replace intentional or controlled hand movements.

The loss of controlled hand movements often happens during stage 2 of Rett syndrome. You may also see the stages written with Roman numerals, from I through IV. Stage 2, also called the rapid progressive stage because symptoms get worse during this time, usually happens between ages 2 and 4. Motor symptoms like involuntary hand movements may improve during stage 3.

5. Face and Eye Movements

Hand movements aren’t the only unique movements you may notice from a child with Rett syndrome. They often move their eyes and facial muscles in distinctive ways. Some face and eye movements function as a way of communicating for children with speech challenges.

Here are a few examples of face and eye movements your child might make:

• An intense stare or eye gaze
• Crossed eyes
• Excessive blinking or winking
• One eye kept closed
• Difficulty with making eye contact
• Odd facial expressions
• Smiles or laughter

6. Balance and Coordination Issues

Children with Rett syndrome may have trouble standing or walking because of balance and coordination problems. These problems can become more noticeable in stage 4, also called the late motor deterioration stage, which can begin at any time after stage 3. At first, your child might seem unsteady on their feet. Over time, some children lose the ability to walk on their own.

Walking problems in Rett syndrome may happen along with symptoms that are also seen in other neurological conditions, such as Parkinson’s disease. These include:

• Spasticity — When muscles tighten or stiffen
• Muscle weakness
• Tremors — Rhythmic shaking movements of a body part
• Rigidity — When muscles feel stiff and resist movement, even when someone else tries to move the limb
• Dystonia — Sustained or repeated muscle contractions that cause twisting movements or unusual postures

7. Irregular Breathing

Your child with Rett syndrome might breathe irregularly, hyperventilate (breathe rapidly), hold their breath often, forcefully blow air out, or swallow air. All of these are common during the daytime, while other breathing issues can happen at night.

When your child goes to sleep, they might experience shallow breathing or apnea (repeated stops in breathing). Around 80 percent of children with Rett syndrome have some type of abnormal or irregular breathing.

Breathing issues in Rett syndrome can be serious and, in some cases, life-threatening. They can also be hard to treat and may come and go. Breathing changes often begin in childhood. Some children may get better for a while, but symptoms can come back later.

8. Trouble Sleeping

Many children with Rett syndrome have trouble sleeping. Sleep disturbances can look different from one child to another. Your child might:

• Have trouble falling asleep
• Wake up frequently throughout the night
• Have restless sleep
• Wake up crying

Some irregular sleep patterns are linked with or worsened by other symptoms of Rett syndrome that tend to disrupt sleep, like apnea or gastrointestinal (digestive) issues. These sleep disturbances can also affect family members and caregivers.

9. Gastrointestinal and Bladder Issues

A range of gastrointestinal and bladder issues may affect children with Rett syndrome. Some make it difficult for them to use the bathroom on their own. Your child might experience:

• Constipation
• Gastroesophageal reflux disease (GERD or acid reflux)
• Urinary incontinence
• Bowel incontinence
• Gallbladder disease

Gastrointestinal problems in Rett syndrome may be painful, which can make them more challenging to manage.

10.Scoliosis

Scoliosis is common in children with Rett syndrome. About 80 percent of girls with Rett develop it by age 13. Scoliosis is an abnormal curve of the spine. It can make movement problems caused by Rett syndrome worse. Surgery may be recommended for severe scoliosis if it greatly affects a child’s quality of life.

Talk to Your Doctor

If you notice your child missing developmental milestones during their first year, let your doctor or pediatrician know right away. Your child’s healthcare provider may use tests to check for other conditions that have symptoms like Rett syndrome. Genetic blood testing can confirm if your child has a change to the MECP2 gene that indicates Rett syndrome.

Although there is no cure for Rett syndrome, treatment can help manage symptoms such as movement challenges, seizures, and sleep problems. Your doctor can discuss options such as physical therapy, occupational therapy, and medications.

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