Understanding Rett Syndrome: Symptoms, Causes, and Treatment Options

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

• Decline in social and language skills

• Problems with muscles, coordination, and walking

• Breathing difficulties

• Seizures

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.