Rett Syndrome

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What is Rett syndrome?

Rett syndrome is a rare, genetic neurodevelopmental disorder that causes progressive loss of motor and communication skills. It most commonly affects females. Rett syndrome is estimated to affect 1 in every 10,000 to 15,000 live female births across all racial and ethnic groups worldwide. The disorder is related to a mutation of the MECP2 gene found on the X sex chromosome.

Infants with Rett syndrome typically develop normally for about 7 to 18 months after birth until symptoms start to appear. Symptoms of Rett syndrome include involuntary hand movements, autistic-like behaviors, slowed growth, and seizures.

Signs and symptoms generally occur at about 12 to 18 months of age and develop over weeks or months. About 85 to 90% of people with Rett syndrome will experience muscle wasting and growth failure as they age. Severity of symptoms vary greatly from one child to the next.

There is no cure for Rett syndrome and treatment is based on symptom management. Caregivers of children with Rett syndrome should seek immediate medical care (call 911) if their child is experiencing seizure activity or trouble breathing.

What are the different types of Rett syndrome?

The two types of Rett syndrome are:

  • Classic: This is the most common, typically developing in four phases: early onset phase, rapid destructive phase, plateau phase, and late motor deterioration phase.

  • Atypical: This type contains five known variants defined by either symptom characteristics, age when symptoms present, or genetic makeup.

What are the symptoms of Rett syndrome?

Symptoms of Rett syndrome generally begin around 12 to 18 months of age and develop over weeks or months.

The most common symptoms of Rett syndrome are:

  • Loss of movement and coordination

  • Loss of communication abilities

  • Abnormal hand movements such as wringing, squeezing, clapping, or rubbing

  • Unusual eye movements such as blinking, staring, or crossed eyes

  • Seizures

  • Difficulty breathing

  • Irritability and crying

  • Loss of intellectual functioning

What are the stages of Rett syndrome?

The classic form of Rett syndrome is divided into four stages:

  • Stage I early onset: occurs between 6 and 18 months of age; children may have delays in sitting or crawling and may lose interest in toys.

  • Stage II rapid deterioration: starts between 1 and 4 years of age; symptoms including slowed head growth, hand wringing, hyperventilating, and loss of communication.

  • Stage III plateau: occurs between ages 2 and 10; problems with hand use and communication improve; seizures may happen in this stage.

  • Stage IV late motor deterioration: begins at age 10 and can last many years; symptoms include reduced mobility, muscle weakness, and joint contractures; seizures may occur less often and communication and hand skills remain stable.

What causes Rett syndrome?

Most cases of Rett syndrome are caused by mutations of the MECP2 gene. In rare cases, it can be inherited from a mother who is a carrier for Rett syndrome. In 99% of cases, the gene mutation occurs spontaneously. The MECP2 gene directs the synthesis of a protein (MeCP2) that is needed for brain development. In Rett syndrome, expression of the mutated MECP2 gene leads to insufficient amounts or structurally abnormal forms of MeCP2.

Not everyone with a MECP2 gene mutation will develop Rett syndrome. It depends on the specific mutation(s) and mutations in other genes as well. Females who have a MECP2 mutation but no clinical signs of the condition are carriers.

What are the risk factors for Rett syndrome?

Rett syndrome is rare and, so far, no risk factors have been identified. However, Rett syndrome appears most commonly in girls and, in rare instances, is inherited from a parent who is a carrier of the genetic mutation that causes Rett syndrome or who has a close family member with Rett syndrome.

Reducing the risk of Rett syndrome

Rett syndrome is not preventable, but early diagnosis and recognition of symptoms may help improve treatment prognosis. If you have a family member with Rett syndrome, you may want to ask your doctor or healthcare provider about genetic testing.

What are nutritional support tips for Rett syndrome?

Children with Rett syndrome need regular nutritional monitoring while they are growing to ensure adequate caloric intake. Some ways of ensuring enough calories in children with Rett syndrome include:

  • Adding calcium and protein to your child’s diet

  • Consulting a dietitian

  • Integrating nutritional supplements

  • Using a feeding tube when necessary

Ask your healthcare provider for guidance before making significant changes to your child’s diet.

What are some conditions related to Rett syndrome?

Similar conditions exist that are part of a spectrum of disease involving mutations of the MECP2 gene including:

  • MECP2-related severe neonatal encephalopathy

  • PPM-X syndrome

  • MECP2 duplication syndrome

How do doctors diagnose Rett syndrome?

To diagnose Rett syndrome, your doctor or licensed healthcare practitioner will use a specific guideline of clinical criteria divided into three types:

  • Main diagnostic criteria: symptoms including partial or complete loss of hand or language skills, gait abnormalities, or repetitive hand movements

  • Supportive criteria: symptoms such as scoliosis, abnormal sleep patterns, abnormal muscle tone, teeth grinding, or diminishes response to pain

  • Exclusion criteria: ruling out infection, brain injury, and neurometabolic disease

Your doctor may also consult with a pediatric neurologist or clinical geneticist to confirm a diagnosis of Rett syndrome. After reaching a diagnosis, your child’s doctor and care team will discuss treatment options and next steps.

What are the treatments for Rett syndrome?

There is no cure for Rett syndrome, however treatment aims to help manage symptoms. Anticonvulsant medications may be used to help control seizures. Breathing and heart irregularities should be monitored on a regular basis. Occupational therapy may help children perform activities of daily living and physical therapy may help improve mobility. Some children may require special equipment such as braces for scoliosis. Nutritional programs can help children with Rett syndrome maintain a healthy weight.

How does Rett syndrome affect quality of life?

Many people with Rett syndrome live into their 40s or 50s, however not much is known about specific life expectancy. Children with Rett syndrome may show improvement in their symptoms between the ages of 2 and 10 including:

  • Better attention span

  • Improved alertness

  • Improved communication skills

  • Improved motor skills

Many children with Rett syndrome will remain in this stage and not see any further decline in communication or motor symptoms for the duration of their lifespan.

What are the potential complications of Rett syndrome?

Complications of Rett syndrome include:

  • Anxiety that affects social functioning

  • Bowel and bladder problems

  • Muscle and joint problems

  • Pain

  • Poor nutrition and delayed growth

  • Sleep problems

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Medical Reviewer: William C. Lloyd III, MD, FACS
Last Review Date: 2021 Aug 28
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THIS TOOL DOES NOT PROVIDE MEDICAL ADVICE. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. Never ignore professional medical advice in seeking treatment because of something you have read on the site. If you think you may have a medical emergency, immediately call your doctor or dial 911.
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  2. Rett Syndrome Fact Sheet. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Rett-Syndrome-Fact-Sheet
  3. What Are The Types & Phases of Rett Syndrome? National Institutes of Health. https://www.nichd.nih.gov/health/topics/rett/conditioninfo/types
  4. Rett Syndrome. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/rett-syndrome/
  5. Rett Syndrome Nutrition and Caloric Intake. Rett Syndrome UK. https://www.rettsyndrome.org.uk/Rett-Syndrome-Nutrition-and-Caloric-Intake.html
  6. Rett Syndrome. Boston Children’s Hospital. https://www.childrenshospital.org/conditions-and-treatments/conditions/r/rett-syndrome