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Head circumferences of patients with Dravet syndrome show growth slowdown
Tommaso Lo Barco1, Nicole Chemaly2, Theo Teng2
1Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France; Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy.
Insights
Head circumference in children with Dravet Syndrome (DS) typically follows normal growth patterns until 24 months. After this, a significant slowdown in head growth is observed, particularly in males and females after 48 and 60 months, respectively.
Area of Science:
- Pediatric Neurology
- Neurodevelopmental Disorders
- Genetics
Background:
- Head circumference (HC) measurement is crucial for monitoring brain growth.
- Genetic conditions often present with abnormal head growth patterns.
- Specific head growth trajectories in Dravet Syndrome (DS) remain underexplored.
Purpose of the Study:
- To investigate head growth trajectories in pediatric patients with Dravet Syndrome.
- To compare HC data in DS patients with standard population growth curves.
- To identify potential deviations in head growth patterns associated with DS.
Main Methods:
- Retrospective analysis of medical records from 137 pediatric DS patients across two epilepsy centers.
- Comparison of quantitative HC data with z-score growth curves of a standard population.
- Statistical analysis using independent samples t-tests across 6-month intervals.
Main Results:
- From birth to 24 months, HC values in DS patients were distributed around the mean reference trajectory.
- A significant deflection from the mean curve, indicating head growth slowdown, was observed after 24 months.
- Statistical significance (p < .05) for head growth slowdown was reached at 48 months for males and 60 months for females.
Conclusions:
- Dravet Syndrome is associated with a distinct pattern of head growth slowdown after the first two years of life.
- Further prospective studies are warranted to explore factors influencing head growth in DS.
- Investigating phenotype-genotype correlations with HC may provide deeper insights into DS pathophysiology.
Abstract:
The measurement of head circumference (HC) represents a useful and reliable tool to monitor brain growth. Many genetic conditions are associated with an abnormal pattern of head growth, but no specific pattern has been described in Dravet Syndrome (DS). To investigate the head growth trajectories in a pediatric population with DS, a retrospective analysis of medical records of patients with DS was performed in 2 epilepsy centers. Quantitative data were compared with z-score growth curve of standard population, and an independent samples t-test was performed using 6-month ranges. A total of 137 subjects aged less than 18 years were included, with a total of 529 HC values and a mean of 3.9 measures per patient. From birth until 24 months of life, HC values were almost equally distributed around the mean trajectory of the reference population from each side of the curve. This trend line deflects from the mean curve after 24 months showing a head growth slowdown reaching a statistical significance (p < .05) from 48 months for males and 60 for females. Future prospective studies are needed to assess factors that can impact head growth and explore possible phenotype-genotype correlation with HC.
