Physical growth and development in patients with Rett syndrome

Area of Science:

• Pediatric endocrinology
• Neurodevelopmental disorders
• Genetics

Background:

• Rett syndrome is a rare neurodevelopmental disorder primarily affecting girls.
• Clinical diagnosis relies on a combination of specific criteria.
• Understanding growth patterns and sexual development is crucial for accurate diagnosis and management.

Purpose of the Study:

• To assess linear growth and sexual development in girls with Rett syndrome.
• To identify potential clinical markers for early identification of Rett syndrome.
• To correlate growth parameters with the established clinical criteria for Rett syndrome.

Main Methods:

• Retrospective analysis of growth data (length/height) in 21 girls diagnosed with Rett syndrome.
• Evaluation of sexual development, including the onset of menarche.
• Comparison of growth parameters against standard centiles and age-appropriate development.

Main Results:

• 48% of girls exhibited growth retardation (length/height below 5th centile).
• 38% showed a downward shift in linear growth during early childhood.
• All girls demonstrated age-appropriate sexual development, with menarche occurring at a mean age of 11 years and 2 months in 6 participants.

Conclusions:

• Early deceleration of linear growth is a significant finding in Rett syndrome.
• Growth retardation below the 5th centile is common in affected girls.
• Normal sexual development, despite growth issues, supports the utility of these parameters in defining Rett syndrome.