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NF1-Specific Growth Charts for Head Circumference Over the First 3 Years of Life
Ayan S Mandal1,2,3, Russell T Shinohara4, Benjamin Jung2,3
1Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Neurology
|December 30, 2025
Summary
Neurofibromatosis type 1 (NF1) specific head circumference growth charts for children aged 0-3 years reveal that smaller head sizes relative to NF1 expectations correlate with developmental delay. These NF1 growth charts improve detection of atypical growth patterns in children with NF1.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- Macrocephaly is a common finding in neurofibromatosis type 1 (NF1), often linked to other syndrome manifestations.
- Standard growth charts may not accurately reflect typical head size in children with NF1, potentially missing atypical growth patterns.
Purpose of the Study:
- To develop NF1-specific head circumference growth charts for children aged 0-3 years.
- To evaluate the clinical utility of these specialized charts in identifying concerning growth patterns.
Main Methods:
- Collected head circumference data from children with NF1 and a control group using electronic health records.
- Developed NF1-specific growth charts using two distinct methodologies.
- Analyzed the correlation between NF1-specific centile scores and developmental delay using mixed-effects models.
Main Results:
- NF1 cohort exhibited significantly elevated head circumference compared to controls across ages 0-3 years.
- NF1-specific curves showed initially slower head circumference growth, followed by sustained increases.
- Head circumference below NF1-specific benchmarks, but not CDC standards, correlated with developmental delay (standardized β = 0.24; p < 0.02).
Conclusions:
- The study presents the first NF1-specific head circumference growth charts for ages 0-3 years.
- Macrocephaly in NF1 becomes more pronounced over time due to sustained growth rates compared to controls.
- NF1-specific charts enhance sensitivity for detecting clinically significant growth deviations linked to developmental delay in children with NF1.
