Sangwon Hwang

Aim: To determine the testing rate and pathogenic or probably pathogenic positivity rate of genetic testing in children with cerebral palsy (CP) in Korea using data from a nationwide multicentre registry, and to identify clinical features associated with positive genetic findings. Method: Baseline data from 539 children enrolled in the Korean Cerebral Palsy Registry were analysed. Genetic testing modalities included chromosomal microarray, whole‐exome sequencing, whole‐genome sequencing, clinical exome sequencing, and karyotyping. Pathogenic and probably pathogenic variants were categorized into primary genetic contributors to CP, genetic motor disorders outside the CP construct, diagnostic interface cases between CP and other genetic motor disorders, and co‐occurring genetic conditions. Results: Among 539 children (304 males), 92 (17.1%) underwent genetic testing, yielding a pathogenic or probably pathogenic positivity rate of 37.0%. Primary genetic contributors to CP accounted for 35.3% of positive results and genetic motor disorders outside the CP construct for 8.8%. Positive findings were more frequent in children born at 32 or more weeks without perinatal risk factors, or presenting dyskinetic features or atypical magnetic resonance imaging patterns. Clinicians most frequently requested testing because of absent perinatal risk factors or atypical magnetic resonance imaging findings. Interpretation: Genetically relevant variants were identified in over one‐third of tested children, especially those with atypical phenotypes or absent perinatal risk factors. These findings support incorporating genomic testing into routine CP evaluation, particularly for cryptogenic or atypical presentations.

Background/Objectives: The COVID-19 pandemic substantially altered children’s daily experiences, limiting social interactions, which are critical for language development. This study aims to explore how the pandemic influenced receptive and expressive language abilities in children under six years, focusing on the impact of exposure duration and differences with the pandemic period. Methods: This retrospective cross-sectional study reviewed 189 children assessed for language delay at our outpatient clinic between 2018 and 2021. Only children evaluated using the Sequenced Language Scale for Infants or the Preschool Receptive-Expressive Language Scale were included. Participants were categorized by assessment period: pre-COVID (2018–2019), acute-COVID (2020), and chronic-COVID (2021), and by age (toddlers vs. preschoolers). Linear regression assessed the relationship between pandemic exposure duration and language scores; non-parametric tests compared groups. Results: During the acute-COVID period, longer exposure was associated with lower receptive and expressive percentile scores. In preschoolers, receptive scores were significantly lower in the chronic-COVID group than in the pre-COVID group, while expressive scores were lower in the chronic-COVID group than in the acute-COVID group. Conclusions: Prolonged exposure to the pandemic environment was associated with measurable delays in both receptive and expressive language development, especially in preschoolers. The results suggest that pandemic restrictions can hinder children’s language acquisition, indicating the need to strengthen early screening and provide timely interventions to support their developmental recovery.

Background/Objectives: This study aimed to assess the reliability and validity of the Korean version of the Eating and Drinking Ability Classification System (EDACS) for children with cerebral palsy (CP). Methods: This was a prospective cross-sectional study conducted to psychometrically assess 40 children with CP. Reliability was evaluated by a physician in pediatric rehabilitation, a speech–language therapist (SaLT), and caregivers. Results: In the evaluation of each level and level of assistance in the EDACS, the agreement observed between the physician and speech therapist was almost perfect (κW = 0.940, 0.919). The agreement between the physician and the caregiver was substantial (κW = 0.618, 0.592), whereas it was moderate between the therapist and caregiver (κW = 0.557, 0.556). Intra-rater reliability remained almost perfect, with the physician (κW = 0.979), the SaLT (κW = 0.980), and caregivers (κW = 0.980). The EDACS showed moderate to high correlation with the Functional Oral Intake Scale, Gross Motor Function Classification System, Manual Ability Classification System, and Communication Function Classification System (Kτ = −0.863, 0.656, 0.720, 0.616). Conclusions: These findings support the Korean EDACS as a reliable tool for classifying eating and drinking abilities in children with CP, thereby enhancing its clinical utility and communication among non-professionals and professionals.

We share our experience on the implementation of a multidisciplinary aerodigestive program comprising an aerodigestive team (ADT) so as to evaluate its feasibility. We performed a retrospective chart review of the patients discussed at the monthly ADT meetings and analyzed the data. A total of 98 children were referred to the ADT during the study period. The number of cases increased steadily from 3.5 cases per month in 2019 to 8.5 cases per month in 2020. The median age of patients was 34.5 months, and 55% were male. Among the chronic comorbidities, neurologic disease was the most common (85%), followed by respiratory (36%) and cardiac (13%) disorders. The common reasons for consultation were suspected aspiration (56%), respiratory difficulty (44%), drooling/stertor (30%), regurgitation/vomiting (18%), and feeding/swallowing difficulty (17%). Following discussions, 58 patients received active interventions, including fundoplication, gastrostomy, laryngomicrosurgery, tracheostomy, and primary dilatation of the airway. According to the questionnaire of the caregiver, the majority agreed that the main symptoms and quality of life of patients had improved (88%), reducing the burden on caregivers (77%). Aerodigestive programs may provide comprehensive and multidisciplinary management for children with complex airway and digestive tract disorders.

Background: When early‐stage lung cancer is diagnosed, the recommended treatment is anatomical resection using video‐assisted thoracoscopic surgery (VATS) or robotic lobectomy. However, nonanatomical resection, known as wedge resection (WR), which is performed to diagnose pulmonary nodules, can be problematic for clinicians performing VATS or robotic‐assisted thoracic surgery (RATS). The purpose of this study was to evaluate the safety and effectiveness of VATS WR using multiplanar computed tomography reconstruction (CT MPR)‐fluoroscopy after CT guided microcoil localization to achieve complete pulmonary nodule resection.Methods: Between January 2016 to December 2020, the medical records of patients who underwent CT‐guided microcoil localization for suspicious malignant pulmonary nodules and VATS WR with CT MPR and intraoperative fluoroscopy were retrospectively reviewed.Results: All 130 patients successfully underwent CT‐guided localization. The success rate of VATS WR with CT MPR‐intraoperative fluoroscopy was 98.5%. Mean operation time was 58 min (range 50–84 min). The postoperative complication rate was 3.1%, and no major postoperative complications were reported. The mean postoperative length of hospital stay was 4.7 days (range 4–8 days).Conclusions: VATS WR using CT MPR‐fluoroscopy after CT guided microcoil localization is a safe and highly effective approach for complete pulmonary nodule resection. However, even in uniport VATS or recently performed robotic surgery, localization and resection of nonvisible, nonpalpable pulmonary nodules is a challenging problem. Consequently, satisfactory outcomes can be expected if this technique is used for suspicious malignant pulmonary nodule resection.

To assess the nutritional status of Korean patients with spinal cord injury (SCI), identify the predictors of undernutrition, and investigate the relationship between undernutrition and clinical outcomes. A retrospective study design was used to determine the nutritional status of 130 patients over 19 years old admitted to the rehabilitation hospital of Yonsei University Health System between June 2015 and February 2017. The nutritional status was assessed using the malnutrition universal screening tool (MUST) and the spinal nutrition screening tool (SNST). The relationship between undernutrition and clinical outcomes was examined by comparing a low-risk group with an at-risk group using a t-test. Among the SCI patients, 70 (50.8%) were confirmed with undernutrition based on the MUST scores, while 60 (46.2%) had undernutrition based on the SNST scores. It was found that undernutrition has an effect on functional outcomes. We assessed the undernutrition risk in Korean SCI patients, and found that approximately 50% of the patients were at risk of undernutrition. We also found that undernutrition can affect functional recovery.