Rett syndrome: think outside the (skull) box

Area of Science:

• Neuroscience
• Genetics
• Pediatrics

Background:

• Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder.
• It is characterized by developmental regression and multi-system comorbidities.
• Pathogenic variants in the MECP2 gene are the primary cause.

Purpose of the Study:

• To review the diverse aspects of Rett syndrome.
• To highlight the impact of RTT on peripheral organ systems.
• To discuss RTT-related disorders, including those independent of nervous system defects.

Main Methods:

• Literature review of Rett syndrome.
• Analysis of studies on MECP2 gene variants.
• Compilation of data on multi-system comorbidities in RTT.

Main Results:

• RTT affects neurological function and numerous non-neurological organs.
• Comorbidities involve respiratory, cardiovascular, digestive, metabolic, skeletal, endocrine, muscular, and urinary systems.
• RTT-related disorders can manifest independently of central nervous system defects.

Conclusions:

• Rett syndrome presents a complex multi-systemic phenotype.
• Understanding peripheral organ involvement is crucial for managing RTT.
• Further research is needed on MECP2's role in non-neurological systems.