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.

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.

Neurodevelopmental disorders (NDDs) comprise a heterogeneous group of conditions characterized by impairments in cognition, language, motor function, behavior, and social communication that originate during the developmental period. Advances in neuroscience, genomics, and digital health have substantially transformed the current understanding of the mechanisms, diagnosis, and management of NDDs. This review summarizes the contemporary conceptual framework of NDDs, highlights advances in etiological diagnosis—particularly those related to genetic and genomic technologies—and discusses emerging therapeutic approaches, including digital therapeutics. Emphasis is placed on the importance of early identification, domain-based assessment, and precision medicine approaches to optimize long-term outcomes.

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.

Background: and Purpose: Cerebral visual impairment (CVI) is an underdiagnosed condition in children, and its assessment tools have focused on older children. We aimed to develop a parental questionnaire for cerebral visual impairment (PQCVI) for screening CVI in young children. Methods: The PQCVI comprised 23 questions based on a modified version of Houliston and Dutton’s questionnaire for older children. The PQCVI with neurocognitive function tests was applied to 201 child–parent pairs with typically developing children younger than 72 months (age 32.4±20.1 months, mean±standard deviation). The children were classified into six age groups. The normative data, cutoff scores, and internal reliability were assessed and item analysis was performed. We referred to the total score for all questions as the cerebral visual function (CVF) score. Results: The normative data showed that the CVF score and the scores corresponding to ventral-stream and dorsal-stream visual functions plausibly increased with age. The scores rapidly reached 90% of their maximum values up to the age of 36 months, after which they increased slowly. Cronbach’s alpha for all questions across all age groups was 0.97, showing excellent consistency. The item difficulty and item discrimination coefficients showed that the questions were generally adequate for this age stage. Conclusions The PQCVI items produced reliable responses in children younger than 72 months. The rapid increase in scores before the age of 3 years supports the importance of early identification of CVI. Following additional clinical verification, the PQCVI may be useful for CVI screening.

Background: Coronavirus disease 2019 (COVID-19) has spread around the globe, and it is important to determine the risk factors of death in the general population. Our study aimed to determine the risk factors of death and severe illness requiring supplemental oxygen therapy based on the demographic and clinical characteristics of COVID-19 patients in Korea. Methods: In this study, we used data provided by the Korea Disease Control and Prevention Agency (KDCA) and analyzed a total of 5,068 patients with COVID-19, excluding 19 pregnant women and 544 individuals with missing data. We performed logistic regression analysis to determine the impact of early symptoms on survival and severe disease. Logistic regression models included sex, age, number of comorbidities, symptoms on admission, blood pressure, heart rate, and body temperature as explanatory variables, and death and oxygen therapy as outcome variables. Results: Logistic regression analyses revealed that the male sex, older age (≥ 60 years), higher number of comorbidities, presence of symptoms on admission, heart rate ≥ 120 bpm, and body temperature ≥ 37.5°C presented with higher risk of in-hospital death and oxygen therapy requirement. Conversely, rhinorrhea and headache were associated with a low risk of death and oxygen therapy requirement. The findings showed that cough, sputum, and fever were the most common symptoms on admission, while 25.3% of patients with COVID-19 were asymptomatic. Conclusion COVID-19 patients with high-risk early symptoms on admission, such as dyspnea and altered mental status, and those without low-risk symptoms of rhinorrhea and headache should be included in priority treatment groups.

Background: Based on the reports of low prevalence and severity of pediatric severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections, the Korean government has released new SARS-CoV-2 infection response and treatment guidelines for children under the age of 12 years. The government has further directed school reopening under strict preventive measures. However, there is still considerable concern on the impact of school reopening on community transmission of Coronavirus disease 2019 (COVID-19). In the present study, we aimed to evaluate the appropriateness of these directives and the severity of SARS-CoV-2 infections in children as compared to adults using sufficient national sample data. Methods: In the present study, we evaluated the severity of SARS-CoV-2 infection in pediatric patients as compared to adults by analyzing the length of hospital stays (LOS), medical expenses, and hospital and intensive care unit (ICU) admission rates. A multivariate linear regression analysis was carried out to examine the effects of COVID-19 patients that the characteristics on the LOS and medical expenses, and multivariate logistic regression analysis were performed to identify COVID-19 characteristics that affect hospital and ICU admission rates and to prove the low SARS-CoV-2 infection severity in pediatric patients. Results: The hospitalization period for children aged 0–9 was 37% shorter and that of patients aged 10–19 years was 31% shorter than those of older age groups (P < 0.001). The analysis of the medical expenses by age showed that on average, medical expenses for children were approximately 4,900 USD lower for children than for patients over 80 years of age. The linear regression analysis also showed that patients who were 0–9 years old spent 87% and those aged 10–19 118% less on medical expenses than those aged 70 and over, even after the correction of other variables (P < 0.001). The probability of hospitalization was the lowest at 10–19 years old (odds ratio [OR], 0.05; 95% confidence interval [CI], 0.03–0.09), and their ICU admission rate was also the lowest at 0.14 (OR, 0.14; 95% CI, 0.08–0.24). On the other hand, the likelihood of hospitalization and ICU admission was the highest in children aged 0–9 years, and among patients under the age of 50 years in general. Conclusion This study demonstrated the low severity of SARS-CoV-2 infection in younger patients (0–19 years) by analyzing the LOS, medical expenses, hospital, and intensive care unit admission rates as outcome variables. As the possibility to develop severe infection of coronavirus at the age of 10–19 was the lowest, a mitigation policy is also required for middle and high school students. In addition, children with underlying diseases need to be protected from high-risk infection environments.

Background: and Purpose: Cerebral visual impairment (CVI) is an underdiagnosed condition in children, and its assessment tools have focused on older children. We aimed to develop a parental questionnaire for cerebral visual impairment (PQCVI) for screening CVI in young children. Methods: The PQCVI comprised 23 questions based on a modified version of Houliston and Dutton’s questionnaire for older children. The PQCVI with neurocognitive function tests was applied to 201 child–parent pairs with typically developing children younger than 72 months (age 32.4±20.1 months, mean±standard deviation). The children were classified into six age groups. The normative data, cutoff scores, and internal reliability were assessed and item analysis was performed. We referred to the total score for all questions as the cerebral visual function (CVF) score. Results: The normative data showed that the CVF score and the scores corresponding to ventral-stream and dorsal-stream visual functions plausibly increased with age. The scores rapidly reached 90% of their maximum values up to the age of 36 months, after which they increased slowly. Cronbach’s alpha for all questions across all age groups was 0.97, showing excellent consistency. The item difficulty and item discrimination coefficients showed that the questions were generally adequate for this age stage. Conclusions The PQCVI items produced reliable responses in children younger than 72 months. The rapid increase in scores before the age of 3 years supports the importance of early identification of CVI. Following additional clinical verification, the PQCVI may be useful for CVI screening.

Background: Coronavirus disease 2019 (COVID-19) has spread around the globe, and it is important to determine the risk factors of death in the general population. Our study aimed to determine the risk factors of death and severe illness requiring supplemental oxygen therapy based on the demographic and clinical characteristics of COVID-19 patients in Korea. Methods: In this study, we used data provided by the Korea Disease Control and Prevention Agency (KDCA) and analyzed a total of 5,068 patients with COVID-19, excluding 19 pregnant women and 544 individuals with missing data. We performed logistic regression analysis to determine the impact of early symptoms on survival and severe disease. Logistic regression models included sex, age, number of comorbidities, symptoms on admission, blood pressure, heart rate, and body temperature as explanatory variables, and death and oxygen therapy as outcome variables. Results: Logistic regression analyses revealed that the male sex, older age (≥ 60 years), higher number of comorbidities, presence of symptoms on admission, heart rate ≥ 120 bpm, and body temperature ≥ 37.5°C presented with higher risk of in-hospital death and oxygen therapy requirement. Conversely, rhinorrhea and headache were associated with a low risk of death and oxygen therapy requirement. The findings showed that cough, sputum, and fever were the most common symptoms on admission, while 25.3% of patients with COVID-19 were asymptomatic. Conclusion COVID-19 patients with high-risk early symptoms on admission, such as dyspnea and altered mental status, and those without low-risk symptoms of rhinorrhea and headache should be included in priority treatment groups.