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Understanding Rett Syndrome: Symptoms, Causes, and Treatment Options

Alan Lucks | MD

Medically reviewed by Alan Lucks | MD, Alan Lucks MDPC Private Practice - New York on December 17th, 2023.

Key Takeaways

  • MECP2 gene mutations on the X chromosome cause this condition in 99% of cases, explaining why it almost exclusively affects girls—boys with the mutation typically don't survive infancy.
  • Development appears normal until 12-18 months, then children lose acquired skills like purposeful hand use, spoken words, and walking ability over several months.
  • The characteristic hand-wringing, clapping, or tapping movements become compulsive and can occur up to 10 hours daily, replacing all purposeful hand function.
  • Breathing irregularities affect 70% of patients while awake, including breath-holding for 1-2 minutes followed by rapid breathing or hyperventilation.
  • Life expectancy ranges from 40-50 years with proper care, though 26% experience sudden death, often related to heart rhythm abnormalities or breathing dysfunction.

Rett syndrome is a rare genetic disorder that primarily affects girls. It can impact a child's ability to speak, walk, eat, and breathe easily. Parents or doctors usually notice signs of Rett syndrome in the first two years of a child's life, with the child missing key developmental milestones or losing previously acquired abilities.

Causes of Rett Syndrome

Most children with Rett syndrome have a mutation on the X chromosome, usually in a gene called MECP2. Although the disorder is genetic, children almost never inherit the faulty gene from their parents. Instead, it's a chance mutation that occurs in DNA.

Symptoms of Rett Syndrome

Symptoms of Rett syndrome can vary, but the most common changes usually appear when babies are between 12 and 18 months old. These symptoms may include:

  • Slowed growth, particularly in the brain (microcephaly)

  • Loss of hand skills and repetitive hand movements, hand wringing

  • Decline in social and language skills

  • Problems with muscles, coordination, and walking

  • Breathing difficulties

  • Seizures

Understanding Rett Syndrome: Symptoms, Causes, and Treatment Options

Stages of Rett Syndrome

Rett syndrome typically progresses through four stages:

  1. Stage I: Early onset (6 months to 1.5 years old)

  2. Stage II: Rapid destructive (1 to 4 years old)

  3. Stage III: Plateau (preschool to adulthood)

  4. Stage IV: Late motor deterioration (after 10 years old)

Diagnosing Rett Syndrome

Doctors diagnose Rett syndrome by observing a child's pattern of symptoms and behavior. They may also use genetic testing to confirm the presence of the MECP2 mutation in 80% of girls with suspected Rett syndrome. The RTT Diagnostic Criteria Worksheet is another tool used to assess a child's early growth and development.

Treatment Options for Rett Syndrome

While there is no cure for Rett syndrome, various treatments can help manage symptoms and improve quality of life. These treatments include:

  • Medication to control seizures, muscle stiffness, and other symptoms

  • Physical therapy to support hand and joint function, and improve mobility

  • Speech therapy to develop nonverbal communication skills

  • Occupational therapy to enhance hand skills and daily living activities

  • Nutritional support to ensure a balanced diet and prevent feeding difficulties

  • Behavioral therapy to address specific behavioral issues and promote better sleep habits

  • Supportive services, such as early intervention programs and school, social, and job-training services

With proper care and support, many girls with Rett syndrome can live well into middle age. Researchers continue to study the disorder to better understand its long-term effects and develop new treatment strategies. For more information and support, visit the International Rett Syndrome Foundation and the National Organization for Rare Disorders.

The Bottom Line

This X-linked genetic disorder causes profound developmental regression starting in toddlerhood, but early intervention with multidisciplinary therapies can significantly improve quality of life and potentially extend lifespan. Recognizing the initial loss of skills and characteristic hand movements is crucial for prompt diagnosis and treatment planning. If you notice developmental regression or repetitive hand behaviors in your child, Doctronic can help connect you with specialists quickly.

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