Rett Syndrome

Rett Syndrome
Specialty	Pediatrics, Neurology
Symptoms	Loss of motor skills, repetitive hand movements, slowed growth, problems with speech
Complications	Seizures, scoliosis, sleep disturbances
Usual onset	6 to 18 months of age
Duration	Lifelong
Types	Classical, atypical
Causes	Mutation in the MECP2 gene
Risk factors	Almost exclusively in females
Diagnostic method	Based on symptoms, confirmed by genetic testing
Differential diagnosis	Autism spectrum disorder, Cerebral palsy, Angelman syndrome
Treatment	Symptom management, physical therapy, medication for seizures
Medication	Anticonvulsants, antipsychotics
Prognosis	Varies; motor and intellectual disabilities common
Frequency	1 in 8,500 to 10,000 females

Rett Syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive loss of motor skills and speech. This condition predominantly occurs in females and generally becomes apparent in the first two years of life.

Symptoms and Signs

The initial development of children with Rett Syndrome appears normal, but symptoms surface between 6 to 18 months of age. Early signs include slowed growth, loss of normal movement and coordination, and loss of communication abilities. As the syndrome progresses, characteristic symptoms such as repetitive, stereotypic hand movements (e.g., wringing, tapping) emerge. Other symptoms may include seizures, irregular breathing, and sleep disturbances.

Causes

Rett Syndrome is primarily caused by mutations in the MECP2 gene, which is crucial for brain development and regulates other genes. The mutation leads to inadequate production or function of the MECP2 protein, affecting brain functions including cognitive, sensory, emotional, motor, and autonomic function. This mutation occurs randomly, and in most cases, it is not inherited from the parents.

Diagnosis

Diagnosis of Rett Syndrome is based on the observation of clinical symptoms and is confirmed through genetic testing for mutations in the MECP2 gene. It is important to differentiate Rett Syndrome from other developmental disorders such as autism spectrum disorder, cerebral palsy, and Angelman syndrome.

Treatment

There is no cure for Rett Syndrome, and treatment focuses on managing symptoms and supporting the individual’s abilities. Treatment may include physical therapy to improve mobility, speech therapy to aid communication, and medications to control seizures and manage other medical complications.

Prognosis

The prognosis for individuals with Rett Syndrome varies. Most individuals with Rett Syndrome live into adulthood and require assistance with most daily tasks. The severity of symptoms can vary widely among individuals; some may retain a degree of hand function, while others may lose purposeful hand use entirely.

Epidemiology

Rett Syndrome affects approximately 1 in 8,500 to 10,000 female births worldwide. The condition is much rarer in males.

See Also

• Genetic disorders
• Neurodevelopmental disorder
• Pediatric neurology

‎