Overview

Rett syndrome is a rare but serious neurodevelopmental disorder that primarily affects girls. It is characterized by normal early growth followed by a progressive loss of motor skills, speech abilities, and purposeful hand movements. Most children with Rett syndrome begin to show symptoms between 6 to 18 months of age after a period of seemingly typical development. The condition is genetic in origin and significantly impacts cognitive, social, and physical functioning. Although there is no cure, early diagnosis and supportive therapies can help manage symptoms and improve quality of life.

Causes

Rett syndrome is caused by mutations in the MECP2 gene, located on the X chromosome. This gene produces a protein necessary for brain development and function. In most cases, the mutation occurs spontaneously and is not inherited from parents. Since females have two X chromosomes, they are more likely to survive with Rett syndrome, whereas the condition is often fatal in males before birth or shortly after. There are rare familial cases, but the vast majority result from new genetic mutations without a family history.

Symptoms

The symptoms of Rett syndrome typically develop in stages:

• Early normal development: Normal growth and development for the first 6 to 18 months.
• Developmental regression: Gradual loss of purposeful hand skills (such as grasping toys) and spoken language, along with social withdrawal.
• Hand stereotypies: Repetitive hand movements like wringing, clapping, or hand-washing motions.
• Motor difficulties: Problems with coordination, balance, and walking; many children develop an unsteady gait or may lose the ability to walk altogether.
• Speech loss: Progressive loss of verbal communication skills.
• Breathing abnormalities: Hyperventilation, breath-holding, or irregular breathing patterns while awake.
• Seizures: Common in childhood or adolescence.
• Intellectual disability: Severe impairment in learning and cognition.
• Growth retardation: Slowed head growth (microcephaly), smaller hands and feet, and short stature.
• Behavioral issues: Anxiety, irritability, and social withdrawal.

Diagnosis

Diagnosing Rett syndrome involves a combination of clinical observation and genetic testing:

• Clinical evaluation: A pediatric neurologist evaluates developmental history, physical abilities, and behavioral patterns.
• Genetic testing: A blood test to identify mutations in the MECP2 gene confirms the diagnosis in most cases.
• Exclusion of other conditions: Doctors may perform additional tests to rule out similar neurodevelopmental disorders, metabolic diseases, or brain abnormalities.
• Developmental assessments: Evaluations of speech, motor skills, and social interaction help determine the severity of the condition.

Treatment

There is no cure for Rett syndrome, but several treatments help manage symptoms and improve daily functioning:

• Medications: Anti-seizure medications, muscle relaxants, and drugs for breathing irregularities or behavioral issues.
• Physical therapy: Exercises to improve mobility, reduce muscle stiffness, and prevent joint contractures.
• Occupational therapy: Helps develop self-care skills and maintain hand function.
• Speech therapy: Focuses on non-verbal communication methods, such as gestures or assistive devices.
• Nutritional support: Special diets or feeding strategies to ensure adequate nutrition and prevent gastrointestinal issues.
• Regular monitoring: Ongoing care with neurologists, orthopedists, and therapists to address emerging health issues.
• Assistive devices: Use of mobility aids, communication boards, and adaptive equipment for daily tasks.

Prognosis

The prognosis for Rett syndrome varies based on the severity of symptoms and the age at diagnosis. Although it is a lifelong condition, most individuals survive into adulthood with proper care. Early diagnosis and comprehensive therapies can improve quality of life, enhance mobility, and support communication. While some individuals may lose certain abilities over time, others stabilize and can engage in meaningful social interactions and activities. Ongoing research offers hope for potential future therapies targeting the underlying genetic cause.