Spontaneous postnatal growth is reduced in children with CHARGE syndrome

Area of Science:

• Genetics and developmental pediatrics
• Pediatric endocrinology and growth disorders

Background:

• CHARGE syndrome is a rare genetic disorder with limited data on postnatal growth patterns.
• Understanding growth trajectories is crucial for managing health complications in affected children.

Purpose of the Study:

• To analyze spontaneous postnatal growth and weight in German children diagnosed with CHARGE syndrome.
• To establish growth curves from birth to 6 years of age for this population.

Main Methods:

• Retrospective analysis of health records from 19 children (9 female, 10 male) with CHARGE syndrome.
• Calculation of Standard Deviation Scores (SDS) for length and weight using Swiss reference data.

Main Results:

• Median birth weight was -0.78 SDS and birth length was -0.5 SDS.
• Significant postnatal growth retardation observed, with median body length dropping to -2.3 SDS at 4 weeks and -2.6 SDS at 1 year.
• Body Mass Index (BMI)-SDS significantly increased from -1.15 at 1 year to -0.15 at 5 years (p < 0.01).

Conclusions:

• Children with CHARGE syndrome exhibit near-normal birth measurements but experience significant postnatal growth deficits.
• The observed increase in BMI-SDS during childhood does not appear to correlate with improved linear growth.
• Further research is needed to understand the complex growth patterns and metabolic changes in CHARGE syndrome.