Jung Hye Byeon

This retrospective cohort study evaluated the tolerability, efficacy, and safety of adjunctive cannabidiol (CBD) therapy in pediatric-onset intractable epilepsy across diverse genetic and nongenetic etiologies. Twenty-nine patients aged 6 to 24 years, treated at Korea University Hospitals between April 2019 and May 2024, were included. The median follow-up duration was 14.3 months. Confirmed genetic etiologies included SCN1A -related epilepsy (6.9%); GABRB3 -, SCN2A -, KCNT1 -, KIF1A -, and COL4A1 -related epilepsies (3.4% each); Angelman syndrome and Down syndrome (3.4% each). Presumed genetic etiologies included hemimegalencephaly (3.4%) and cortical dysplasia (6.9%). Acquired causes included hypoxic brain injury (6.9%) and CNS infection (10.3%). In 41.4% of cases, the etiology was unidentified; among them, 58.3% had a history of infantile spasms. At CBD initiation, patients were receiving a median of 5 antiseizure medications, most commonly valproic acid (93.1%), clobazam (82.8%), and levetiracetam (75.9%). The median maintenance dose of CBD was 14.2 mg/kg/d. The retention rate was above 86% at both 12 and 24 months. At 12 months, 79.3% achieved a ≥50% reduction in seizure frequency, and 34.5% achieved a ≥75% reduction without generalized motor seizures. One patient with a GABRB3 variant achieved seizure freedom. Adverse events occurred in 37.9%, most commonly somnolence and lethargy. These were mild and resolved with antiseizure medication adjustments. CBD was discontinued in 3 patients due to pneumonia, lethargy, or seizure aggravation. CBD therapy demonstrated favorable retention, efficacy, and safety profiles in pediatric-onset intractable epilepsy across a spectrum of etiologies.

Background/Objectives: Whole exome sequencing (WES) is an effective method for detecting disease-causing variants. However, copy number variation (CNV) detection using WES data often has limited sensitivity and high false-positive rates. Methods: In this study, we constructed a reference CNV set using chromosomal microarray analysis (CMA) data from 44 of 180 individuals who underwent WES and CMA and evaluated four WES-based CNV callers (CNVkit, CoNIFER, ExomeDepth, and cn.MOPS) against this benchmark. For each tool, we first defined software-specific problematic genomic regions across the full WES cohort and filtered out the CNVs that overlapped these regions. Results: The four algorithms showed low mutual concordance and distinct distributions in the problematic regions. On average, 2210 sequencing target baits (1.23%) were classified as problematic; these baits had lower mappability scores and higher coefficients of variation in RPKM than the remaining probes. After the supplementary filtration step, all tools demonstrated improved performance. Notably, ExomeDepth achieved gains of 14.4% in sensitivity and 7.9% in positive predictive value. Conclusions: We delineated software-specific problematic regions and demonstrated that targeted filtration markedly reduced false positives in WES-based CNV detection.

Developmental language disorder (DLD) is a common yet under-recognized neurodevelopmental condition characterized by persistent difficulties in acquiring and using language that cannot be explained by hearing loss, intellectual disability, or known neurological injury. Children with DLD exhibit deficits across phonology, morphology, syntax, semantics, and pragmatics, which have downstream effects on literacy and academic attainment. DLD frequently co-occurs with attention-deficit/hyperactivity disorder, dyslexia, and speech sound disorders. Early identification requires attention beyond vocabulary counts to subtler markers such as syntactic comprehension, working memory, and processing speed. Converging genetic and neurobiological evidence suggests a polygenic risk profile and subtle alterations in brain connectivity. Cross-linguistic research is essential for distinguishing universal from language-specific markers and refining culturally appropriate standardized assessments. Because DLD is heterogeneous and multidimensional, it demands early detection, evidence-based intervention, and robust policy support that account for linguistic and cultural diversity to improve long-term outcomes.

Cerebral visual impairment (CVI) is recognized as the most common cause of visual impairment in children in high-income countries. It refers to a heterogeneous group of visual processing deficits of cerebral origin that cannot be explained by ocular pathology alone. Major risk factors include prematurity, perinatal brain injury, and structural abnormalities of the developing brain. The terminology has shifted from cortical to CVI to reflect involvement of the entire visual network, including both primary and associative pathways. The term ‘cerebral visual disorders’ has been proposed to describe a broader range of visuoperceptual dysfunction. Clinically, CVI is characterized by inconsistent visual behaviors, including impaired visual attention, difficulty processing complex visual scenes, and delayed visual responses, often despite relatively preserved visual acuity. Diagnosis is clinical and multidisciplinary, requiring exclusion of ocular causes and assessment of functional vision. Neuroimaging may support etiological classification, but is not definitive for diagnosis. Early identification is important, as timely intervention is associated with improved visual and developmental outcomes. Parent-reported questionnaires serve as useful screening tools in early childhood, and the Korean parental questionnaire for children younger than 72 months provides an age-appropriate example. In this mini-review, management is framed around visual habilitation and environmental modification tailored to the child’s visual profile. Although prognosis varies, early recognition and targeted support can improve functional vision and overall quality of life.

Intellectual disability (ID) affects 1%–3% of the population, while borderline intellectual functioning (BIF) affects 13%–14% of individuals, together representing a substantial burden in pediatric neurology. This review synthesizes current evidence on diagnostic frameworks, genomic advances, and targeted therapeutics relevant to pediatric practice. We reviewed recent literature focusing on Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (DSM-5-TR) and International Classification of Diseases, 11th Revision (ICD-11) updates, genomic diagnostic innovations, and emerging therapies identified through PubMed and clinical trial registries (2019–2024). Diagnostic frameworks now emphasize adaptive functioning rather than intelligence quotient (IQ)-based classifications, with severity defined by required support levels rather than cognitive scores. Genomic testing has progressed from chromosomal microarray (10%–20% yield) to trio whole-exome sequencing (30%–45% yield), with professional guidelines endorsing genome-first approaches as first-line testing. Common comorbidities require systematic management, including autism spectrum disorder (15%–20%), attention-deficit/hyperactivity disorder (20%), epilepsy (20%–30% in moderate-to-severe cases), and mental health disorders. Traditional management continues to prioritize early intervention, educational support, and comprehensive medical care, while emerging targeted therapies show clinical benefit, including U.S. Food and Drug Administration-approved trofinetide for Rett syndrome and investigational antisense therapies for Angelman syndrome. Contemporary ID management demands genome-first diagnostic strategies, structured comorbidity assessment, and integration of targeted therapeutics. The BIF population requires formal diagnostic recognition and broader service eligibility. Optimal outcomes depend on collaboration among pediatric neurologists, geneticists, and developmental specialists through precision-medicine–based approaches.

Objectives: Subacute sclerosing panencephalitis (SSPE) is a rare but fatal neurodegenerative disease caused by persistent measles virus infection. After a significant measles outbreak in 2000–2001, the Republic of Korea implemented a nationwide measles elimination program, which led to a dramatic reduction in measles incidence. This study aimed to evaluate the impact of these measles elimination efforts on the incidence of SSPE in the Republic of Korea.Methods: This nationwide, population-based retrospective cohort study identified patients newly diagnosed with measles and SSPE between 2007 and 2022, registered in the Health Insurance Review and Assessment Service (HIRA) and Korea Disease Control and Prevention Agency (KDCA) databases. Population-based incidence rates of measles and SSPE were calculated and compared annually.Results: A total of 236 measles cases (HIRA data) and 1,168 measles cases (KDCA data), along with 2,736 SSPE cases, were diagnosed during the study period. Measles incidence significantly declined, reaching zero cases in 2021, while SSPE incidence displayed an upward trend, peaking in 2014. The mean age at SSPE onset was 21.2 years, with a marked male-to-female ratio of 13.0:1.Conclusion: SSPE incidence was remarkably low in the post-outbreak period, likely attributable to successful measles control. This study underscores the critical importance of maintaining low measles incidence through sustained vaccination efforts, preventing SSPE and other measles-related complications.

Evidence of the importance of early childhood development (ECD) has transformed child health monitoring and screening tools. Development of the Korean Developmental Screening Test for Infants and Children (K-DST) has expanded the applications of child health screening to a large number of infants and children in Korea and is contributing to the early detection of neurodevelopmental disorders and delivery of timely interventions. The previous screening tool (Korean Ages and Stages Questionnaire) raised some concerns, as its lack of consideration of the cultural background of the Korean population can lead to inaccurate or imprecise diagnoses. The K-DST, a tailored tool for Korean infants and children, is a simple and cost-efficient solution for child health monitoring and screening. This review focuses on the development and role of the K-DST in ensuring ECD. Here we review use of the K-DST for ECD screenings and discuss the best strategy for its use in other countries.

The artificial intelligence (AI)-based genetic diagnostic program has been applied to genome sequencing to facilitate the diagnostic process. The objective of the current study was to evaluate the experience and level of satisfaction of participants using an AI-based diagnostic program for rare pediatric genetic diseases. The patients with neurodevelopmental disorders or hearing impairments, their guardians, and their physicians from 16 tertiary general hospitals were enrolled. The study period was from April 2020 to March 2021. A survey was designed to assess their experience and level of satisfaction. A total of 30 physicians and 243 patients and guardians (199 neurodevelopmental disorders and 44 hearing impairments) completed the survey. DNA samples of the subjects were collected through buccal swabs or blood collection: 211 subjects (86.8%) through buccal swab and 29 subjects (11.9%) through blood collection. Average turnaround time for result receipt was 57.54 ± 32.42 days. For the sampling method, 193 patients and guardians (81.1%) and 28 physicians (93.3%) preferred buccal swab. The level of satisfaction of the 2 groups participating in the AI-based diagnostic program was 8.31 ± 1.71 out of 10 in the patient and guardian group and 8.42 ± 1.23 in the physician group. Clinicians, patients, and guardians are satisfied with the AI-based diagnostic program in general. With an increase in AI-based precision medicine solutions, the evaluation of the user’s satisfaction with appropriate provision will help improve personal health care.

Background: Vestibular migraine and benign paroxysmal vertigo are the most common causes of vertigo in children and adolescents. This is a review of vestibular migraine of childhood dizziness.Current Concepts: In children and adolescents, the symptoms of dizziness or vertigo are not well defined. Thus, few studies have investigated the characteristics of dizziness or vertigo in children and adolescents. Vestibular migraine is categorized as episodic syndromes associated with migraine in the International Classification of Headache Disorders, 3rd edition. Despite vertigo’s various clinical features and duration, vestibular migraine can be diagnosed only when a migraine accompanies vertigo from 5 minutes to 72 hours. Benign paroxysmal vertigo is more common in children and adolescents than vestibular migraine. Benign paroxysmal vertigo is considered one of the precursor syndrome of migraine, and the duration of vertigo is short from seconds to minutes.Discussion and Conclusion: Vestibular migraine is common in older children and adults who need a differential diagnosis. This review might be helpful to diagnose, evaluate, and treat children with vestibular migraine and to reassure their parents.