Purpose: Allgrove syndrome, also known as “triple A” syndrome, is characterized by adrenal insufficiency, achalasia, and alacrimia. When neurological signs are also present, the condition is referred to as “4 A” syndrome. Methods: We conducted a retrospective analysis of three patients with 4 A syndrome confirmed genetically. A complete neurological exam was carried out by an experimented neurologist. Results: Herein, we describe the neurological characteristics often associated with this condition, through the clinical and electrophysiological analysis of three patients. All patients exhibited a mutation in AAAS, the gene coding for ALADIN. While these individuals presented with the classic features of triple-A syndrome, neurological symptoms were not prominent. Conclusion The neurological manifestations of Allgrove syndrome have historically been overlooked and inadequately explored. Due to the condition’s rarity and substantial phenotypic heterogeneity, only recently have a variety of symptoms been recognized and described.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects the overall cognitive, emotional, social, and physical health of the affected individual. It is characterised by challenges in social communication and interaction, repetitive and stereotyped behaviours, and narrow interests. The pathogenesis of ASD is thought to involve a combination of genetic and environmental factors. Increasing evidence suggests that vitamin D deficiency during pregnancy and early childhood may contribute to the development of ASD. While studies have indicated that vitamin D supplementation can significantly improve symptoms of ASD, the underlying mechanism remains elusive. This review summarises the association between vitamin D levels and ASD, explores potential mechanisms underlying vitamin D's role in ASD, and examines the effect of vitamin D supplementation on ASD symptoms.

Purpose: The clinical profile of seizures among children exhibits ethnic and geographical variations. The objective of this study was to examine the clinical, etiological, and demographic profiles of childhood seizures. Methods: This was a hospital-based, cross-sectional study. Data were collected on the socio-demographic profile, details of the clinical presentation of seizure episodes, past history of meningitis, and neuroimaging (i.e., computed tomography [CT] scans), as well as the history of risk factors. Numbers, percentages, the chi-square test, and the Fisher exact test statistic were calculated. A P value of <0.05 was considered significant. Results: This study included 102 patients, of whom 82 experienced generalized tonic-clonic seizures (GTCS) and the remaining 20 had focal seizures. The most common age at presentation was between 1 and 4 years (55.9%). Approximately 70.0% of the children experienced postictal confusion and drowsiness, 38.2% had fever or sleep deprivation, and 25.5% suffered from headaches or vomiting. Postictal confusion and drowsiness were significantly more prevalent in children with GTCS (76.8%) compared to those with focal seizures (45.0%). Cerebral edema was the most common abnormality detected on CT scans in children with GTCS (n=6). Conclusion Younger age, neonatal brain insult, and family history were found to be associated with a higher risk of seizure episodes. Postictal confusion and drowsiness were identified as the most common clinical features. Postictal confusion and drowsiness were significantly more prevalent in GTCS compared to focal seizures. Cerebral edema was the most common abnormality observed in GTCS on CT neuroimaging.

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.

Purpose: The early detection and management of dyslexia are crucial for preventing irreversible educational gaps and various negative consequences for affected students. However, diagnosing dyslexia is challenging because it requires a comprehensive assessment. Dyslexia screening tests that utilize fast, automated, computer-based technology can be useful for early identification and management. In this paper, we introduce a tablet computer-based dyslexia screening application that uses an eye-tracking system and verify its reliability. Methods: The study included 200 participants between 8 and 13 years of age from an elementary school, all of whom underwent dyslexia screening tests twice. The screening was conducted using the VisualCamp SeeSo eye-tracking Android Software Development Kit v3.0.0, implemented on Samsung Galaxy Tab S5e tablets. The eye-tracking system measured reading speed by gaze, mean gaze fixation time, gaze fixation frequency, saccadic length, and regression ratio. To assess the reliability of the two sets of measurements, the intraclass correlation coefficient (ICC) was employed. Results: Excellent reliability was found for measurements of gaze fixation frequency (ICC=0.83), gaze fixation mean time (ICC=0.82), and reading speed by gaze (ICC=0.76), and good reliability for measurements of regression ratio (ICC=0.75) and saccadic length (ICC=0.72). Conclusion This study demonstrated that the tablet computer-based dyslexia screening application reliably measured eye movements in subjects with dyslexia. Furthermore, the application proved to be highly reliable and potentially suitable for use in clinical or school settings, eliminating the need for a laboratory environment and extensive equipment.

Purpose: The clinical characteristics of headaches vary by age among pediatric patients. Red flag signs are key factors in differentiating secondary headaches and should be considered in the context of the patient’s age. Methods: This study involved a retrospective chart review of pediatric patients presenting with headaches. Patients were categorized by age into three groups: pre-school age (under 6 years), school-age (6 to 12 years), and adolescence (over 12 years). Demographic data, headache characteristics, laboratory findings, and neuroimaging results were evaluated. Overall, 17 potential red flags were assessed. Results: A total of 687 patients were included, of whom 102 were of pre-school age, 314 were school-aged, and 271 were adolescents. The frequency of overweight/obesity was found to increase with age. The pre-school age group experienced a shorter period from symptom onset to presentation and a briefer duration of pain. In contrast, adolescents displayed a longer period from symptom onset, a greater frequency of headaches occurring at least three times per week, and a higher rate of headache episodes lasting over 3 days. Children under 6 years old were more commonly diagnosed with secondary headaches than older children. Across age groups, secondary headaches were suspected when systemic symptoms such as fever were present, when the headache had a sudden onset, when the patient responded poorly to medication, or when abnormal neurological signs and symptoms were observed. Conclusion The clinical features of pediatric patients vary by age group. Clinicians should consider red flag signs in the context of patient age and individual characteristics.

Purpose: Electroencephalography (EEG) is useful for clarifying the association between cortical activity and cognitive processes in children. We investigated whether EEG abnormalities were correlated with developmental delay/intellectual disability (DD/ID) in the absence of clinical seizures. Methods: We retrospectively identified 166 children with DD/ID who underwent EEG at Pusan National University Hospital between January 2011 and December 2021. We compared clinical characteristics and test results between those with normal and those with abnormal EEGs. Additionally, we analyzed EEG abnormalities in relation to neurodevelopmental disorders, specifically autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Results: Of the 166 patients, 39 (23.5%) displayed abnormal EEGs, while 127 (76.5%) had normal EEGs. Of the former, 25 (64.1%) patients exhibited epileptiform discharges, including 22 (56.3%) with focal and three (7.7%) with generalized discharges. Focal discharges most frequently affected the central area (35.9%). Twenty patients (51.3%) exhibited rhythmic slowing patterns. Epilepsy diagnoses were significantly more common among patients with abnormal EEGs (n=8, 20.5%) than among those with normal EEGs (n=9, 7.1%) (P<0.001). Of 22 patients with ASD, five (12.8%) had abnormal EEGs. Of 13 patients with ADHD, five (36.4%) had abnormal EEGs, all with epileptiform discharges. Two patients with ASD and two with ADHD exhibited rhythmic slowing. Abnormal EEG findings were significantly more common among those with genetic abnormalities compared to genetically normal patients (26 vs. 13, P=0.017). Conclusion EEG represents a potential screening tool for children with DD. Abnormal EEG findings are associated with increased epilepsy risk, informing diagnosis and treatment planning.