1.Impact of the COVID-19 Pandemic on Behavioral and Emotional Factors in Pediatric Patients with Headache
Hey-Joon SON ; Joo-Ok JIN ; Kon-Hee LEE
Annals of Child Neurology 2024;32(3):161-166
Purpose:
Headaches are common in childhood and adolescence and are often exacerbated by various triggers. The coronavirus disease 2019 (COVID-19) pandemic has profoundly altered daily life worldwide. In this study, we investigated potential behavioral and emotional changes among pediatric patients with headaches, treated either before or after the onset of the COVID-19 pandemic.
Methods:
We examined 162 patients who visited our pediatric headache clinic between March 2018 and August 2021. The study included patients with primary headaches who completed a questionnaire assessing behavioral and psychiatric characteristics. We reviewed their clinical features, imaging studies, and scores on the Korean Child Behavior Checklist (K-CBCL), State Anxiety Inventory for Children (SAIC), Trait Anxiety Inventory for Children, and Children’s Depression Inventory (CDI). Statistical analysis was conducted using the Mann-Whitney U test, among other methods.
Results:
The 162 patients (mean age, 11.7±3.3 years) were classified based on whether they visited before (n=81) or after (n=81) the onset of the COVID-19 pandemic. The average CDI and SAIC scores were significantly higher in those who presented after pandemic onset. In this group, the odds ratio for an abnormal CDI score was 4.971. A weak positive correlation was found between the CDI score and the K-CBCL total problem score, with a correlation coefficient of 0.297.
Conclusion
Pediatric patients visiting the headache clinic after the onset of the COVID-19 pandemic exhibited significantly higher levels of anxiety and depression compared to pre-pandemic visitors. Recognizing the considerable impact of the pandemic may help inform the management of pediatric headaches.
2.Clinical and Genetic Spectrum of Tubulinopathy: A Single-Center Study
Hey-Joon SON ; Minhye KIM ; Hye Jin KIM ; Jae So CHO ; Soo Yeon KIM ; Byung Chan LIM ; Ki Joong KIM ; Jong-Hee CHAE ; Woo Joong KIM
Annals of Child Neurology 2024;32(2):115-121
Purpose:
Tubulinopathy represents a group of disorders caused by variants in tubulin genes, which present with a wide spectrum of brain malformations. This study was conducted to provide insight into the phenotypic and genetic spectra of tubulinopathy within the Korean pediatric population.
Methods:
Among individuals who underwent genetic testing at a pediatric neurology clinic between June 2011 and December 2021, 15 patients with tubulin gene variants were retrospectively recruited. Clinical features, genetic information, and brain imaging findings were retrospectively reviewed.
Results:
The genetic spectra of the patients included TUBA1A (n=5, 33.3%), TUBB4A (n=6, 40.0%), TUBB3 (n=2, 13.3%), TUBB (n=1, 6.7%), and TUBB2A (n=1, 6.7%) variants. Two novel mutations were identified: a c.497A>G; p.(Lys166Arg) variant in TUBA1A and a c.907G>C; p.(Ala303Pro) variant in TUBB. All 15 patients exhibited developmental delays, with a broad spectrum of severity. Other common manifestations included microcephaly (n=10; 66.7%) and seizures (n=9; 60%). A review of the neuroimaging data revealed a range of findings that were both genotype-specific and overlapping across genotypes. In cases of TUBA1A mutation (n=5), four patients (80%) presented with pachygyria and polymicrogyria, while three (60%) displayed cerebellar hypoplasia and dysplasia. All patients with TUBB4A variants (n=6) exhibited hypomyelination, and three (50%) had cerebellar dysplasia.
Conclusion
This study represents the first cohort analysis of tubulin gene mutations associated with tubulinopathy in a Korean pediatric population. It suggests that these mutations can produce a broad spectrum of neurodevelopmental and neuroimaging findings and should be considered within the differential diagnosis in relevant clinical scenarios.