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.

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/Aims: The programmed death 1 (PD-1)/programmed death-ligand 1 (PD-L1) pathway has not been fully evaluated in inflammatory bowel disease. We evaluated PD-1/PD-L1 levels in patients with ulcerative colitis (UC) and their significance in tonsil-derived mesenchymal stem cells (TMSCs) treatment. Methods: Using acute and chronic murine colitis model, we measured the PD-1 and PD-L1 levels in inflamed colonic tissues pre- and post-treatment with TMSCs. We also measured PD-1 and PD-L1 levels in colonic tissues from UC patients, compared to normal controls. Results: In the analysis using human colonic tissues, a significant increase in the levels of PD-1 and PD-L1 was observed in the colonic mucosa of patients with UC compared with normal controls (p < 0.001 and p = 0.005, respectively). When comparing the maximal disease extent, PD-L1 levels were highest in patients with proctitis (38.5 ± 46.7), followed by left-side colitis (17.5 ± 23.1) and extensive colitis (5.2 ± 8.2) (p < 0.001). In the chronic colitis model, the level of PD-L1 was decreased (p = 0.040) and the level of PD-1 increased more than in normal controls (p = 0.047). After treatment with TMSC, significant improvements were observed in body weight, disease activity index, and colon length recovery. Additionally, the levels of PD-1 and PD-L1 were recovered; PD-L1 significantly increased (p = 0.031), while the level of PD-1 decreased (p = 0.310). Conclusions The altered expression of PD-1 and PD-L1 in colonic mucosa may be a possible mechanism of UC, and T-MSC-derived PD-L1 could help suppress colitis.

Colonoscopic polypectomy is effective in decreasing the incidence and mortality of colorectal cancer (CRC). Premalignant polyps discovered during colonoscopy are associated with the risk of metachronous advanced neoplasia. Postpolypectomy surveillance is the most important method for managing advanced metachronous neoplasia. A more efficient and evidence-based guideline for postpolypectomy surveillance is required because of the limited medical resources and concerns regarding colonoscopy complications. In these consensus guidelines, an analytic approach was used to address all reliable evidence to interpret the predictors of CRC or advanced neoplasia during surveillance colonoscopy. The key recommendations state that the high-risk findings for metachronous CRC following polypectomy are as follows: adenoma ≥10 mm in size; 3 to 5 (or more) adenomas; tubulovillous or villous adenoma; adenoma containing high-grade dysplasia; traditional serrated adenoma; sessile serrated lesion containing any grade of dysplasia; serrated polyp of at least 10 mm in size; and 3 to 5 (or more) sessile serrated lesions. More studies are needed to fully comprehend the patients who are most likely to benefit from surveillance colonoscopy and the ideal surveillance interval to prevent metachronous CRC.

Background/Aims: Esophageal perforation is associated with high mortality and morbidity in patients presenting to the emergency department (ED) with esophageal injury. We investigated the effectiveness of initial CT scan in patients with esophageal injury to determine the risk factors for complications. Methods: Patients admitted through the ED for evaluation of esophageal injuries between January 2001 and May 2020, were investigated. Demographic data, etiological factors, comorbidities, treatment administered, and outcomes were collected. Esophageal injury was graded based on the following CT criteria: (a) normal, (b) pneumomediastinum, (c) mediastinitis, fluid collection, abscess, or overt esophageal wall injury, and (d) pleural effusion, subcutaneous emphysema, or pneumothorax. Grade 2 was defined as microperforation and grades 3 and 4 as overt perforation. Results: Of 281 patients with esophageal injury, 38 had CT-documented overt perforations and 20 had microperforations. Foreign body-induced injury (n=37), Boerhaave syndrome (n=12), and chemical injury (n=3) were common causes of esophageal injury. Complications occurred in 24 (8.5%) patients. Risk factors for complications were age ≥65 years (OR 4.14, 95% CI 1.18~14.56, P=0.027), cerebrovascular disease (OR 8.58, 95% CI 1.13~65.19, P=0.038), Boerhaave syndrome (OR 12.52, 95% CI 2.07~75.68, P=0.006), chemical injury (OR 15.72, 95% CI 3.67~67.28, P<0.001), and CT-documented grade 4 perforation (OR 15.75, 95% CI 4.39~56.55, P<0.001). Conclusions Initial CT-based grading in the ED are useful for predicting potential complications and for managing patients with esophageal injury and suspected perforation.

Purpose: Patients with atopic dermatitis (AD) experience a chronic relentless course which may affect emotional and behavioral problems. Moreover, AD could affect serious psychosocial problems due to its disfiguring skin conditions, particularly in adolescents who are under various stresses. The aim of this study was to investigate behavioral problems in children and adolescents with AD and to identify associated clinical factors. Methods: A total of 69 subjects with AD were enrolled in this study. The severity of AD was assessed using the SCORAD (Scoring of Atopic Dermatitis) index and divided into 2 groups: mild-to-moderate and severe groups. Behavioral problems were assessed by using the Korean Child Behavior Checklist (K-CBCL). Results: The severe AD group had higher total behavior problem scores and internalizing scores than the mild-to-moderate group. Social problem and attention problem scores were slightly higher in the severe AD group than in the mild-to-moderate AD group. The DSM (diagnostic and statistical manual of mental disorders)-anxiety, obsessive compulsive problems, and sluggish cognitive tempo problems were more frequently observed in the severe AD group. Longer disease duration was an independent risk factor of internalizing problems in subjects with AD. Conclusion This study showed that subjects with severe AD had higher total behavioral problem scores, particularly internalizing scales. Their behavioral problems may have poor compliance and consequently poor outcomes as well. Clinicians should be aware that children and adolescents with severe AD have more behavioral problems and that an interdisciplinary approach with medical and psychological supports is necessary for proper management.

Human Q fever, a zoonosis caused by Coxiella burnetii, presents with diverse clinical manifestations ranging from mild self-limited febrile illnesses to life-threatening complications such as endocarditis or vascular infection. Although acute Q fever is a benign illness with a low mortality rate, a large-scale outbreak of Q fever in the Netherlands led to concerns about the possibility of blood transfusion-related transmission or obstetric complications in pregnant women. Furthermore, a small minority (< 5%) of patients with asymptomatic or symptomatic infection progress to chronic Q fever. Chronic Q fever is fatal in 5–50% of patients if left untreated. In South Korea, Q fever in humans was designated as a notifiable infectious disease in 2006, and the number of Q fever cases has increased sharply since 2015. Nonetheless, it is still considered a neglected and under-recognized infectious disease. In this review, recent trends of human and animal Q fever in South Korea, and public health concerns regarding Q fever outbreaks are reviewed, and we consider how a One Health approach could be applied as a preventive measure to prepare for zoonotic Q fever outbreaks.

Purpose: The purpose of this study was to develop a Korean Adult Patients Delirium Screening Tool (K-APDS) for those admitted to general wards, and to verify its reliability and validity. Methods: For the development of the tool, 12 items were derived through the results of literature review and focus group interviews with general ward nurses, and the content validity was confirmed by experts. To verify the reliability and validity of the developed tool, 317 adult patients who were admitted to general wards of three tertiary general hospitals from October to November 2022 were evaluated by the attending nurse and data were collected. Results: After factor analysis for construct validity verification, two factors were extracted, which explained 60.1% of the total variance. After the validation of the control group, the difference in the delirium incidence scores calculated using the K-APDS between the delirium group and non-delirium group was very significant (Z=-10.82, p<.001).To verify the criterion validity, K-APDS, Delirium Observation Screening, and Pearson's correlation coefficient were checked and found to be .94 (p<.001). The predictive validity test reported that the sensitivity was 91.1%, specificity was 82.4%, positive predictive value was 52.6%, and negative predictive value was 97.8%. The reliability of K-APDS was found to be high with Cronbach’s ⍺=.91. Conclusion K-APDS can screen for delirium with 2 or more points, excellent validity and reliability have been verified. Therefore, this tool could be applied immediately in the clinical field, and will contribute to the early detection of delirium, enabling rapid interventions.

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.