Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children

Area of Science:

• Genetics and Human Development
• Pediatric Endocrinology
• Growth and Development Studies

Background:

• 22q11 Deletion Syndrome (22q11 DS) is associated with frequent infant growth faltering.
• The long-term growth trajectory and final adult height in 22q11 DS lack established consensus.
• Understanding growth patterns is crucial for managing health outcomes in this population.

Purpose of the Study:

• To establish normative growth charts for individuals with 22q11 DS.
• To analyze growth patterns from infancy through adulthood.
• To compare growth parameters with international standards and references.

Main Methods:

• Analysis of 5,149 growth data points from 812 Caucasian subjects with 22q11 DS (neonates to 37 years).
• Construction of growth charts for height, weight, BMI, and head circumference using LMS Chart Maker.
• Comparison of 22q11 DS charts with WHO and US CDC growth standards/references (ages 5-20 years).

Main Results:

• Infants with 22q11 DS show significant decline from the 50th centile at birth to the 9th centile by 6-9 months.
• Catch-up growth observed, more rapid in weight than height for boys.
• Adolescents trend towards overweight; final mean adult height is below average (-0.72 SD for boys, -0.89 SD for girls).
• Head circumference (OFC) is significantly smaller in infancy and remains below reference standards throughout childhood.

Conclusions:

• Growth faltering is a consistent feature in 22q11 DS, requiring monitoring.
• While catch-up growth occurs, final adult height is typically reduced.
• OFC is consistently smaller, indicating potential neurodevelopmental implications needing further study.