Background: Pediatric obesity is a global public health concern. South Korea is witnessing a notable increase in obesity rates among children and adolescents, despite various governmental interventions. Parents play a crucial role in preventing and managing pediatric obesity, as they are typically the primary observers of their child’s weight and daily habits. Methods: This study involved 10 parents of overweight or obese children and adolescents in South Korea, identified from a 2023 Student Health Examination. Focus group interviews were conducted to explore participants’ experiences, followed by a rigorous qualitative content analysis of the data. Results: The analysis revealed one main theme, parental roles and challenges in managing pediatric obesity, that encompassed five categories: parental awareness and perception of pediatric obesity; causes of pediatric obesity; parental strategies for managing obesity; barriers to management; and support systems and resources.Parental recognition of their child’s obesity was predominantly initiated through student health examinations at school, and the cause of obesity was multifactorial. Parents use various strategies, such as dietary changes and exercise promotion, but face barriers, including stigma and resource constraints. Parents demand comprehensive support from schools, healthcare providers, and community programs to effectively manage obesity. Conclusion These findings highlight the need for tailored interventions to address parents’ specific obstacles in managing pediatric obesity. Enhancing parental awareness, providing clear information, and strengthening support systems are essential for preventing and managing pediatric obesity in South Korea.

Background: Pediatric obesity is a global public health concern. South Korea is witnessing a notable increase in obesity rates among children and adolescents, despite various governmental interventions. Parents play a crucial role in preventing and managing pediatric obesity, as they are typically the primary observers of their child’s weight and daily habits. Methods: This study involved 10 parents of overweight or obese children and adolescents in South Korea, identified from a 2023 Student Health Examination. Focus group interviews were conducted to explore participants’ experiences, followed by a rigorous qualitative content analysis of the data. Results: The analysis revealed one main theme, parental roles and challenges in managing pediatric obesity, that encompassed five categories: parental awareness and perception of pediatric obesity; causes of pediatric obesity; parental strategies for managing obesity; barriers to management; and support systems and resources.Parental recognition of their child’s obesity was predominantly initiated through student health examinations at school, and the cause of obesity was multifactorial. Parents use various strategies, such as dietary changes and exercise promotion, but face barriers, including stigma and resource constraints. Parents demand comprehensive support from schools, healthcare providers, and community programs to effectively manage obesity. Conclusion These findings highlight the need for tailored interventions to address parents’ specific obstacles in managing pediatric obesity. Enhancing parental awareness, providing clear information, and strengthening support systems are essential for preventing and managing pediatric obesity in South Korea.

Background: Pediatric obesity is a global public health concern. South Korea is witnessing a notable increase in obesity rates among children and adolescents, despite various governmental interventions. Parents play a crucial role in preventing and managing pediatric obesity, as they are typically the primary observers of their child’s weight and daily habits. Methods: This study involved 10 parents of overweight or obese children and adolescents in South Korea, identified from a 2023 Student Health Examination. Focus group interviews were conducted to explore participants’ experiences, followed by a rigorous qualitative content analysis of the data. Results: The analysis revealed one main theme, parental roles and challenges in managing pediatric obesity, that encompassed five categories: parental awareness and perception of pediatric obesity; causes of pediatric obesity; parental strategies for managing obesity; barriers to management; and support systems and resources.Parental recognition of their child’s obesity was predominantly initiated through student health examinations at school, and the cause of obesity was multifactorial. Parents use various strategies, such as dietary changes and exercise promotion, but face barriers, including stigma and resource constraints. Parents demand comprehensive support from schools, healthcare providers, and community programs to effectively manage obesity. Conclusion These findings highlight the need for tailored interventions to address parents’ specific obstacles in managing pediatric obesity. Enhancing parental awareness, providing clear information, and strengthening support systems are essential for preventing and managing pediatric obesity in South Korea.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy that mainly affects skeletal muscle. FSHD1 accounts for 95% of all FSHD cases and can be diagnosed based on the pathogenic contraction of the D4Z4-repeat array on chromosome 4q35. Genetic diagnosis of FSHD1 is challenging because of the large size and repetitive nature of the D4Z4 region. We evaluated the clinical applicability of optical genome mapping (OGM) for the genetic diagnosis of FSHD1. Methods: We included 25 individuals with clinically confirmed or suspected/probable FSHD and their families. Ultra-high-molecular-weight DNA from peripheral blood was labeled, stained, and imaged using a single-molecule OGM platform (Bionano Genomics Saphyr system). D4Z4 repeat size and haplotype information were analyzed using the manufacturer’s dedicated pipeline. We also compared the workflow and test time between Southern blot analysis and OGM. Results: We obtained concordant OGM and Southern blot results with 10 samples from patients with clinically confirmed FSHD. The D4Z4 repeat size differed within 1 unit between the Southern blot analysis and OGM. Among nine patients with clinically suspected or probable FSHD, six patients were confirmed to have pathogenic contractions by OGM.In our cohort, one de novo mosaic FSHD1 patient was successfully diagnosed with OGM.Moreover, OGM has a more straightforward and less time-consuming workflow than Southern blot analysis. Conclusions OGM enables accurate and reliable detection of pathogenic contraction of the D4Z4-repeat array and is a valuable tool for the genetic diagnosis of FSHD1.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy that mainly affects skeletal muscle. FSHD1 accounts for 95% of all FSHD cases and can be diagnosed based on the pathogenic contraction of the D4Z4-repeat array on chromosome 4q35. Genetic diagnosis of FSHD1 is challenging because of the large size and repetitive nature of the D4Z4 region. We evaluated the clinical applicability of optical genome mapping (OGM) for the genetic diagnosis of FSHD1. Methods: We included 25 individuals with clinically confirmed or suspected/probable FSHD and their families. Ultra-high-molecular-weight DNA from peripheral blood was labeled, stained, and imaged using a single-molecule OGM platform (Bionano Genomics Saphyr system). D4Z4 repeat size and haplotype information were analyzed using the manufacturer’s dedicated pipeline. We also compared the workflow and test time between Southern blot analysis and OGM. Results: We obtained concordant OGM and Southern blot results with 10 samples from patients with clinically confirmed FSHD. The D4Z4 repeat size differed within 1 unit between the Southern blot analysis and OGM. Among nine patients with clinically suspected or probable FSHD, six patients were confirmed to have pathogenic contractions by OGM.In our cohort, one de novo mosaic FSHD1 patient was successfully diagnosed with OGM.Moreover, OGM has a more straightforward and less time-consuming workflow than Southern blot analysis. Conclusions OGM enables accurate and reliable detection of pathogenic contraction of the D4Z4-repeat array and is a valuable tool for the genetic diagnosis of FSHD1.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy that mainly affects skeletal muscle. FSHD1 accounts for 95% of all FSHD cases and can be diagnosed based on the pathogenic contraction of the D4Z4-repeat array on chromosome 4q35. Genetic diagnosis of FSHD1 is challenging because of the large size and repetitive nature of the D4Z4 region. We evaluated the clinical applicability of optical genome mapping (OGM) for the genetic diagnosis of FSHD1. Methods: We included 25 individuals with clinically confirmed or suspected/probable FSHD and their families. Ultra-high-molecular-weight DNA from peripheral blood was labeled, stained, and imaged using a single-molecule OGM platform (Bionano Genomics Saphyr system). D4Z4 repeat size and haplotype information were analyzed using the manufacturer’s dedicated pipeline. We also compared the workflow and test time between Southern blot analysis and OGM. Results: We obtained concordant OGM and Southern blot results with 10 samples from patients with clinically confirmed FSHD. The D4Z4 repeat size differed within 1 unit between the Southern blot analysis and OGM. Among nine patients with clinically suspected or probable FSHD, six patients were confirmed to have pathogenic contractions by OGM.In our cohort, one de novo mosaic FSHD1 patient was successfully diagnosed with OGM.Moreover, OGM has a more straightforward and less time-consuming workflow than Southern blot analysis. Conclusions OGM enables accurate and reliable detection of pathogenic contraction of the D4Z4-repeat array and is a valuable tool for the genetic diagnosis of FSHD1.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy that mainly affects skeletal muscle. FSHD1 accounts for 95% of all FSHD cases and can be diagnosed based on the pathogenic contraction of the D4Z4-repeat array on chromosome 4q35. Genetic diagnosis of FSHD1 is challenging because of the large size and repetitive nature of the D4Z4 region. We evaluated the clinical applicability of optical genome mapping (OGM) for the genetic diagnosis of FSHD1. Methods: We included 25 individuals with clinically confirmed or suspected/probable FSHD and their families. Ultra-high-molecular-weight DNA from peripheral blood was labeled, stained, and imaged using a single-molecule OGM platform (Bionano Genomics Saphyr system). D4Z4 repeat size and haplotype information were analyzed using the manufacturer’s dedicated pipeline. We also compared the workflow and test time between Southern blot analysis and OGM. Results: We obtained concordant OGM and Southern blot results with 10 samples from patients with clinically confirmed FSHD. The D4Z4 repeat size differed within 1 unit between the Southern blot analysis and OGM. Among nine patients with clinically suspected or probable FSHD, six patients were confirmed to have pathogenic contractions by OGM.In our cohort, one de novo mosaic FSHD1 patient was successfully diagnosed with OGM.Moreover, OGM has a more straightforward and less time-consuming workflow than Southern blot analysis. Conclusions OGM enables accurate and reliable detection of pathogenic contraction of the D4Z4-repeat array and is a valuable tool for the genetic diagnosis of FSHD1.