Rett Syndrome

What is Rett syndrome?

Rett syndrome is a rare genetic and neurological condition that primarily affects girls. A genetic variant causes it and plays an important role in brain development. The condition leads to symptoms that affect motor function, communication and cognitive abilities.

For the first few months of your child’s life, they’ll develop and meet growth milestones as expected. After 6 months, however, your child will lose the ability to perform previously learned skills. This includes purposeful hand use and communication. Symptoms typically show up in stages as your child gets older. Symptoms that affect your child’s development will stop getting worse (progressing) with time. But they won’t go away. Your child will need care and support throughout their life.

Rett syndrome symptoms

Your child will develop as expected until about 6 months. The first signs of Rett syndrome are developmental delays. These start when your child doesn’t reach expected milestones for their age. Examples could include waving, walking and speaking their first words.

As your child gets older, symptoms of developmental regression (loss of learned skills) become more visible.

Symptoms that affect your child’s muscles, movement and behavior include:

• Balance and coordination challenges (difficulty walking)
• Difficulty speaking
• Difficulty swallowing or chewing (can lead to trouble maintaining a healthy weight or malnutrition)
• Muscle weakness or spasticity
• Problems performing familiar movements on command (apraxia)
• Repeated hand movements like wringing, squeezing or clapping

Other symptoms of Rett syndrome include:

• Difficulty sleeping
• Gastrointestinal problems (reflux or constipation)
• Intellectual disability
• Irritability
• Scoliosis
• Slow growth

Life-threatening symptoms may include:

• Breathing issues
• Heartbeat irregularities
• Seizures

Rett syndrome facial features

Children with Rett syndrome may have a small head size compared to the rest of their body (microcephaly). This can make facial features look more pronounced. But, there aren’t identifiable facial features for this condition.

Many symptoms of Rett syndrome overlap with another condition called Angelman syndrome. Some common features include speech and communication impairment, developmental delay, seizures and sleep disturbances. Facial feature changes are common with Angelman syndrome, like deep-set eyes, a wide mouth and widely spaced teeth, for example. These features don’t happen with Rett syndrome.

Rett syndrome stages

This condition progresses in stages that happen as your child gets older. They might experience different symptoms at each stage. Not all children go through every stage. For example, some people with Rett syndrome are never able to walk.

Rett syndrome stages include:

• Stage I, early onset, starts when your child is between 6 and 18 months. Your child’s development slows, like delays in crawling or a lack of eye contact. Your child will have low muscle tone and feeding challenges.
• Stage II, the rapid progressive stage, usually occurs between ages 1 and 4 years. Your child may lose some language skills and the use of their hands. They may constantly wring their hands. Some children also experience behaviors that resemble autism spectrum disorder, like a lack of interest in socializing.
• Stage III, the plateau or pseudo-stationary stage, usually occurs between ages 2 and 10 years. Your child’s symptoms from stage II may improve, like communication and motor skills. They may show interest in socializing. Seizures are common.
• Stage IV, or the late motor deterioration stage, may happen at any time after stage III. Your child may lose walking skills and muscle strength. Your child should keep their communication and thinking abilities.

Rett syndrome causes

A genetic variant of the MECP2 gene causes most cases of Rett syndrome. This gene provides instructions to make the MECP2 protein. This protein holds the connection (synapse) between nerve cells and helps your child’s brain function as expected.

Not all cases of Rett syndrome affect the MECP2 gene. Some gene variants (like deletions) or genetic variants to other genes, like CDJK5 and FOXG1, can lead to atypical types. Some unidentified genes can also cause symptoms.

The genetic change occurs spontaneously (randomly). It’s not usually inherited.

Rett syndrome in males

Rett syndrome almost always affects females. This is because the genetic change that causes it happens on the X chromosome. You have two X chromosomes if you’re female.

Since males have one X chromosome and one Y chromosome, this condition rarely affects them. A variant on a child’s only X chromosome can lead to miscarriage or death during early infancy due to severe symptoms.

Healthcare providers identify this gene change in males as MECP2-related severe neonatal encephalopathy. This condition can cause similar symptoms, like intellectual disability, seizures and difficulty with movement.

Complications of Rett syndrome

Your child may be at risk of the following complications, some of which are life-threatening:

• Aspiration pneumonia
• Epilepsy
• Heart dysfunction (long QT syndrome)
• Lung or breathing issues

How doctors diagnose Rett syndrome

A healthcare provider will diagnose Rett syndrome after a physical exam and testing. As a parent or caregiver, you might suspect something’s wrong when your child stops meeting developmental milestones for their age during their first year. This will prompt a visit to your child’s pediatrician or primary care physician.

Your child’s provider will examine your child for symptoms and run tests to rule out conditions with similar symptoms. A genetic blood test can identify a gene change to the MECP2 gene to confirm a diagnosis in most cases. This genetic screening doesn’t require any special preparation or a hospital stay.

A diagnosis usually happens after 6 months of age and before 18 months. This is when symptoms start.

Since Rett syndrome is so rare, a diagnosis usually doesn’t happen quickly. Your child’s care team will make sure they’ve ruled out all other possible conditions before making an official diagnosis. This can be frustrating as you wait for answers, but a clear diagnosis helps your child’s care team treat their symptoms.

How is Rett syndrome treated?

Treatment varies based on your child’s specific symptoms. For example, medications can treat seizures and movement challenges. If your child has difficulty with motor skills and language, their provider may recommend:

• Occupational therapy
• Physical therapy
• Speech therapy

For children 2 years of age and older, a medication called trofinetide showed success during clinical trials. It’s the first FDA-approved treatment specifically for Rett Syndrome. It’s not a cure but is considered a disease-modifying treatment. You’ll need to discuss and work closely with your medical team to explore this option.

In addition, your child may benefit from:

• A brace or surgery for scoliosis
• Frequent monitoring for heart abnormalities
• Nutritional support
• Special education programs in school

There isn’t a cure for Rett syndrome. Your child’s providers can help manage their symptoms throughout their life.

When should my child see their healthcare provider?

Visit a healthcare provider if you notice your child misses developmental milestones for their age, especially after 6 months.

If your child has a Rett syndrome diagnosis, let their provider know if they have any side effects from treatment or if you notice new or worsening symptoms.

Rett syndrome life expectancy

Many people with Rett syndrome live a high quality of life well into their 40s and beyond. If symptoms are mild, your child may have a normal life expectancy. Health complications may shorten life expectancy.

Your child’s provider is the best person to ask about their life expectancy. They understand and can explain the outlook of your child’s unique situation.

Rett syndrome prognosis

Rett syndrome is a lifelong condition. Symptoms affect each person differently. Your child may be able to regulate their movements, walk and communicate on their own. But they’ll still need around-the-clock care throughout their life.

Your child will also need to schedule regular visits with their care team to make sure they have appropriate symptom management and to prevent complications. Some cases of Rett syndrome can cause early death if complications arise.