Growth in Chilean infants with chromosome 22q11 microdeletion syndrome

Area of Science:

• Genetics and Human Development
• Pediatric Endocrinology
• Clinical Genetics

Background:

• Chromosome 22q11 microdeletion syndrome presents diverse clinical issues, including growth abnormalities.
• Short stature and poor weight gain are common in infancy, while obesity increases in adolescence and adulthood.
• Accurate growth monitoring tools are essential for managing patients with 22q11 deletion.

Purpose of the Study:

• To develop gender-specific growth curves for infants (0-24 months) with 22q11 microdeletion syndrome.
• To compare these growth curves with established World Health Organization (WHO) Child Growth Standards.
• To analyze adult height and weight data to understand long-term growth patterns in this population.

Main Methods:

• Generated gender-specific growth curves using the LMS method from 479 length and 475 weight measurements of 138 Chilean patients.
• Analyzed final adult height and weight data from 25 individuals.
• Compared generated infant growth curves (10th, 50th, 90th centiles) with WHO standards.

Main Results:

• Infant length and weight 50th centiles for patients with 22q11 deletion were below the 10th centile of WHO standards.
• A trend towards increased weight gain was observed in boys nearing 2 years of age.
• Average adult female height was 152 cm (10th WHO centile) and male height was 166 cm (20th WHO centile).
• One-third of adult females, but no males, had a Body Mass Index (BMI) > 25.

Conclusions:

• Developed novel growth curves provide a crucial reference for monitoring growth in infants with 22q11 microdeletion syndrome.
• Patients exhibit significantly lower growth percentiles in infancy and reduced adult stature compared to general population standards.
• The findings underscore the need for clinical attention to growth patterns and potential obesity risk in individuals with 22q11 deletion.