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Head growth in cystic fibrosis following early diagnosis by neonatal screening
S Ghosal1, C J Taylor, M Pickering
1Department of Paediatrics, University of Sheffield.
Insights
Children with cystic fibrosis show improved length but lagging head growth despite early diagnosis. This suggests potential brain involvement in cystic fibrosis transmembrane conductance regulator function.
Area of Science:
- Pediatrics
- Genetics
- Developmental Biology
Background:
- Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
- Neonatal screening enables early diagnosis and intervention for CF.
- Growth patterns in children with CF require ongoing monitoring.
Purpose of the Study:
- To assess longitudinal growth patterns in children with CF diagnosed via neonatal screening.
- To evaluate head circumference growth in relation to somatic growth in early childhood.
- To investigate potential neurodevelopmental implications in CF.
Main Methods:
- Longitudinal study of 25 children with CF from 3 months to 4 years.
- Recording of length, weight, and head circumference measurements.
- Calculation of Standard Deviation (SD) scores for growth parameters.
Main Results:
- Length SD scores improved and stabilized near the mean by age 2.
- Weight SD scores remained consistently around -1 SD throughout the study.
- Head circumference SD scores initially improved but declined to -1 SD by age 4.
Conclusions:
- Head growth lags behind somatic growth in children with CF, even with early diagnosis and nutritional support.
- The findings suggest potential functional expression of the cystic fibrosis transmembrane conductance regulator (CFTR) in the brain.
- Continued monitoring of neurodevelopmental parameters is warranted for children with CF.
Abstract:
Growth in length, weight gain, and head circumference were recorded from 3 months to 4 years of age in 25 children with cystic fibrosis diagnosed by neonatal screening. Mean standard deviation (SD) scores at 3 months for length, weight, and head circumference were -0.78, -0.91, and -0.52 respectively. Over the first 2 years length SD scores showed a consistent improvement and stabilised at 0.1 SD below mean from 2 to 4 years. Weight SD scores remained essentially unaltered throughout, approximately 1 SD below the mean. Head circumference, however, after an initial increase from -0.52 at 3 months to -0.25 at 18 months, slowed and fell to 1 SD below the mean at 4 years. The data suggest that head growth continues to lag behind somatic growth in children with cystic fibrosis despite early diagnosis and good nutritional management in early infancy. These data also support functional expression of cystic fibrosis transmembrane conductance regulator in the brain.