Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.

Area of Science:

• Neuroscience
• Genetics
• Pediatrics

Background:

• Rett syndrome is a complex X-linked neurodevelopmental disorder primarily affecting females, caused by MECP2 gene mutations.
• Despite advances, no cure exists, with management focusing on symptoms and support.
• Early diagnosis and understanding disease progression are crucial for improving patient outcomes and facilitating clinical trials.

Approach:

• A retrospective analysis was conducted on 103 girls with classical Rett syndrome diagnosed between 2000 and 2020.
• Data included MECP2 genotype, clinical features, comorbidities (e.g., seizures, scoliosis, breathing issues), and management strategies.
• The study aimed to identify the incidence and onset of comorbidities and review management principles.

Key Points:

• The median age of diagnosis for Rett syndrome was 3 years.
• The most common MECP2 variant identified was c.502 C>T.
• Frequent comorbidities included sleep disturbances, seizures, breathing irregularities, scoliosis, and mobility issues.

Conclusions:

• This comprehensive review enhances understanding of Rett syndrome's clinical spectrum and natural history.
• Improved awareness among healthcare professionals can lead to earlier diagnosis and better-informed management.
• Findings support streamlined enrollment for future Rett syndrome clinical trials.