Purpose: Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chromosomal deletion characterized by clinical and molecular heterogeneity. This study aims to report on a Korean patient with RTS and compare the clinical and molecular features with those of patients with 1p36DS. Methods: A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. This led to the identification of a de novo truncating variant in SPEN. We retrospectively investigated cases of 1p36DS that were either newly diagnosed at our institution or previously reported in the literature and databases. Results: The clinical profile of RTS includes developmental delay/intellectual disability, hypotonia, feeding difficulties, congenital heart defects, and facial dysmorphisms. SPEN is frequently found within the deleted region associated with 1p36DS. However, in all reported Korean cases of 1p36DS, the deletions were distal and did not involve SPEN; despite this, the clinical features of the disorder overlap considerably with those of RTS. Conclusion SPEN is a newly identified gene that plays a role in various developmental processes. Therefore, it is essential to include SPEN in genetic testing when diagnosing patients suspected of having a neurodevelopmental disorder. Additional research is required to explore the molecular and clinical features, as well as the prognosis, of patients with either an isolated SPEN mutation or one that co-occurs with 1p36DS.

Purpose: Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chromosomal deletion characterized by clinical and molecular heterogeneity. This study aims to report on a Korean patient with RTS and compare the clinical and molecular features with those of patients with 1p36DS. Methods: A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. This led to the identification of a de novo truncating variant in SPEN. We retrospectively investigated cases of 1p36DS that were either newly diagnosed at our institution or previously reported in the literature and databases. Results: The clinical profile of RTS includes developmental delay/intellectual disability, hypotonia, feeding difficulties, congenital heart defects, and facial dysmorphisms. SPEN is frequently found within the deleted region associated with 1p36DS. However, in all reported Korean cases of 1p36DS, the deletions were distal and did not involve SPEN; despite this, the clinical features of the disorder overlap considerably with those of RTS. Conclusion SPEN is a newly identified gene that plays a role in various developmental processes. Therefore, it is essential to include SPEN in genetic testing when diagnosing patients suspected of having a neurodevelopmental disorder. Additional research is required to explore the molecular and clinical features, as well as the prognosis, of patients with either an isolated SPEN mutation or one that co-occurs with 1p36DS.

Purpose: Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chromosomal deletion characterized by clinical and molecular heterogeneity. This study aims to report on a Korean patient with RTS and compare the clinical and molecular features with those of patients with 1p36DS. Methods: A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. This led to the identification of a de novo truncating variant in SPEN. We retrospectively investigated cases of 1p36DS that were either newly diagnosed at our institution or previously reported in the literature and databases. Results: The clinical profile of RTS includes developmental delay/intellectual disability, hypotonia, feeding difficulties, congenital heart defects, and facial dysmorphisms. SPEN is frequently found within the deleted region associated with 1p36DS. However, in all reported Korean cases of 1p36DS, the deletions were distal and did not involve SPEN; despite this, the clinical features of the disorder overlap considerably with those of RTS. Conclusion SPEN is a newly identified gene that plays a role in various developmental processes. Therefore, it is essential to include SPEN in genetic testing when diagnosing patients suspected of having a neurodevelopmental disorder. Additional research is required to explore the molecular and clinical features, as well as the prognosis, of patients with either an isolated SPEN mutation or one that co-occurs with 1p36DS.

Purpose: Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chromosomal deletion characterized by clinical and molecular heterogeneity. This study aims to report on a Korean patient with RTS and compare the clinical and molecular features with those of patients with 1p36DS. Methods: A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. This led to the identification of a de novo truncating variant in SPEN. We retrospectively investigated cases of 1p36DS that were either newly diagnosed at our institution or previously reported in the literature and databases. Results: The clinical profile of RTS includes developmental delay/intellectual disability, hypotonia, feeding difficulties, congenital heart defects, and facial dysmorphisms. SPEN is frequently found within the deleted region associated with 1p36DS. However, in all reported Korean cases of 1p36DS, the deletions were distal and did not involve SPEN; despite this, the clinical features of the disorder overlap considerably with those of RTS. Conclusion SPEN is a newly identified gene that plays a role in various developmental processes. Therefore, it is essential to include SPEN in genetic testing when diagnosing patients suspected of having a neurodevelopmental disorder. Additional research is required to explore the molecular and clinical features, as well as the prognosis, of patients with either an isolated SPEN mutation or one that co-occurs with 1p36DS.

Purpose: Radio-Tartaglia syndrome (RTS; Mendelian Inheritance in Man [MIM]: 619312) is a rare neurodevelopmental disorder with few reported cases and limited research. It has recently been reported that the clinical features of RTS overlap with those of 1p36 deletion syndrome (1p36DS), a common chromosomal deletion characterized by clinical and molecular heterogeneity. This study aims to report on a Korean patient with RTS and compare the clinical and molecular features with those of patients with 1p36DS. Methods: A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. This led to the identification of a de novo truncating variant in SPEN. We retrospectively investigated cases of 1p36DS that were either newly diagnosed at our institution or previously reported in the literature and databases. Results: The clinical profile of RTS includes developmental delay/intellectual disability, hypotonia, feeding difficulties, congenital heart defects, and facial dysmorphisms. SPEN is frequently found within the deleted region associated with 1p36DS. However, in all reported Korean cases of 1p36DS, the deletions were distal and did not involve SPEN; despite this, the clinical features of the disorder overlap considerably with those of RTS. Conclusion SPEN is a newly identified gene that plays a role in various developmental processes. Therefore, it is essential to include SPEN in genetic testing when diagnosing patients suspected of having a neurodevelopmental disorder. Additional research is required to explore the molecular and clinical features, as well as the prognosis, of patients with either an isolated SPEN mutation or one that co-occurs with 1p36DS.

BACKGROUND/OBJECTIVES: As awareness of climate change increases, the relevance of environmental education in dietary choices gains prominence. Although diversely defined, food literacy (FL) is increasingly recognized as the ability to make food choices with an awareness of environmental sustainability. This study aims to conduct a pilot implementation and assess the effectiveness of a program developed to improve FL among university students. SUBJECTS/METHODS: The study spanned from August 2022 to February 2023, involving 92 participants (42 in the intervention group and 50 in the control group). Over 11 weeks, the program included cooking classes, local farm visits, and environmental impact lectures developed through extensive literature reviews and interviews with students and experts. FL was measured using a 33-item survey along with basic sociodemographic factors. After the intervention, both groups participated in qualitative interviews. All statistical analyses were carried out in Stata/SE version 17.0, and interview data were analyzed in Microsoft Excel using the framework analysis method. RESULTS: The FL scores of the intervention group improved significantly from an average of 65.8 to 69.6 points (P = 0.015), with notable gains in the socio-ecological domain in FL from 65.3 to 71.5 points (P < 0.001). A linear regression analysis comparing FL between the intervention and control groups found that only the knowledge items were marginally significant (P = 0.054), with no statistically significant difference in the practice aspect before and after the intervention (P = 0.657). The interviews revealed that the intervention group experienced broadened perspectives and heightened environmental consciousness, although translating these into practice was challenged by unchanged daily routines. CONCLUSION This pilot program effectively enhanced some aspects of FL-related knowledge of participants. High satisfaction among participants and no dropouts indicated its potential for scaling. Future programs will benefit from strategies that facilitate the transition from educational improvement to practical application.

BACKGROUND/OBJECTIVES: As awareness of climate change increases, the relevance of environmental education in dietary choices gains prominence. Although diversely defined, food literacy (FL) is increasingly recognized as the ability to make food choices with an awareness of environmental sustainability. This study aims to conduct a pilot implementation and assess the effectiveness of a program developed to improve FL among university students. SUBJECTS/METHODS: The study spanned from August 2022 to February 2023, involving 92 participants (42 in the intervention group and 50 in the control group). Over 11 weeks, the program included cooking classes, local farm visits, and environmental impact lectures developed through extensive literature reviews and interviews with students and experts. FL was measured using a 33-item survey along with basic sociodemographic factors. After the intervention, both groups participated in qualitative interviews. All statistical analyses were carried out in Stata/SE version 17.0, and interview data were analyzed in Microsoft Excel using the framework analysis method. RESULTS: The FL scores of the intervention group improved significantly from an average of 65.8 to 69.6 points (P = 0.015), with notable gains in the socio-ecological domain in FL from 65.3 to 71.5 points (P < 0.001). A linear regression analysis comparing FL between the intervention and control groups found that only the knowledge items were marginally significant (P = 0.054), with no statistically significant difference in the practice aspect before and after the intervention (P = 0.657). The interviews revealed that the intervention group experienced broadened perspectives and heightened environmental consciousness, although translating these into practice was challenged by unchanged daily routines. CONCLUSION This pilot program effectively enhanced some aspects of FL-related knowledge of participants. High satisfaction among participants and no dropouts indicated its potential for scaling. Future programs will benefit from strategies that facilitate the transition from educational improvement to practical application.

BACKGROUND/OBJECTIVES: As awareness of climate change increases, the relevance of environmental education in dietary choices gains prominence. Although diversely defined, food literacy (FL) is increasingly recognized as the ability to make food choices with an awareness of environmental sustainability. This study aims to conduct a pilot implementation and assess the effectiveness of a program developed to improve FL among university students. SUBJECTS/METHODS: The study spanned from August 2022 to February 2023, involving 92 participants (42 in the intervention group and 50 in the control group). Over 11 weeks, the program included cooking classes, local farm visits, and environmental impact lectures developed through extensive literature reviews and interviews with students and experts. FL was measured using a 33-item survey along with basic sociodemographic factors. After the intervention, both groups participated in qualitative interviews. All statistical analyses were carried out in Stata/SE version 17.0, and interview data were analyzed in Microsoft Excel using the framework analysis method. RESULTS: The FL scores of the intervention group improved significantly from an average of 65.8 to 69.6 points (P = 0.015), with notable gains in the socio-ecological domain in FL from 65.3 to 71.5 points (P < 0.001). A linear regression analysis comparing FL between the intervention and control groups found that only the knowledge items were marginally significant (P = 0.054), with no statistically significant difference in the practice aspect before and after the intervention (P = 0.657). The interviews revealed that the intervention group experienced broadened perspectives and heightened environmental consciousness, although translating these into practice was challenged by unchanged daily routines. CONCLUSION This pilot program effectively enhanced some aspects of FL-related knowledge of participants. High satisfaction among participants and no dropouts indicated its potential for scaling. Future programs will benefit from strategies that facilitate the transition from educational improvement to practical application.

BACKGROUND/OBJECTIVES: As awareness of climate change increases, the relevance of environmental education in dietary choices gains prominence. Although diversely defined, food literacy (FL) is increasingly recognized as the ability to make food choices with an awareness of environmental sustainability. This study aims to conduct a pilot implementation and assess the effectiveness of a program developed to improve FL among university students. SUBJECTS/METHODS: The study spanned from August 2022 to February 2023, involving 92 participants (42 in the intervention group and 50 in the control group). Over 11 weeks, the program included cooking classes, local farm visits, and environmental impact lectures developed through extensive literature reviews and interviews with students and experts. FL was measured using a 33-item survey along with basic sociodemographic factors. After the intervention, both groups participated in qualitative interviews. All statistical analyses were carried out in Stata/SE version 17.0, and interview data were analyzed in Microsoft Excel using the framework analysis method. RESULTS: The FL scores of the intervention group improved significantly from an average of 65.8 to 69.6 points (P = 0.015), with notable gains in the socio-ecological domain in FL from 65.3 to 71.5 points (P < 0.001). A linear regression analysis comparing FL between the intervention and control groups found that only the knowledge items were marginally significant (P = 0.054), with no statistically significant difference in the practice aspect before and after the intervention (P = 0.657). The interviews revealed that the intervention group experienced broadened perspectives and heightened environmental consciousness, although translating these into practice was challenged by unchanged daily routines. CONCLUSION This pilot program effectively enhanced some aspects of FL-related knowledge of participants. High satisfaction among participants and no dropouts indicated its potential for scaling. Future programs will benefit from strategies that facilitate the transition from educational improvement to practical application.

BACKGROUND/OBJECTIVES: As awareness of climate change increases, the relevance of environmental education in dietary choices gains prominence. Although diversely defined, food literacy (FL) is increasingly recognized as the ability to make food choices with an awareness of environmental sustainability. This study aims to conduct a pilot implementation and assess the effectiveness of a program developed to improve FL among university students. SUBJECTS/METHODS: The study spanned from August 2022 to February 2023, involving 92 participants (42 in the intervention group and 50 in the control group). Over 11 weeks, the program included cooking classes, local farm visits, and environmental impact lectures developed through extensive literature reviews and interviews with students and experts. FL was measured using a 33-item survey along with basic sociodemographic factors. After the intervention, both groups participated in qualitative interviews. All statistical analyses were carried out in Stata/SE version 17.0, and interview data were analyzed in Microsoft Excel using the framework analysis method. RESULTS: The FL scores of the intervention group improved significantly from an average of 65.8 to 69.6 points (P = 0.015), with notable gains in the socio-ecological domain in FL from 65.3 to 71.5 points (P < 0.001). A linear regression analysis comparing FL between the intervention and control groups found that only the knowledge items were marginally significant (P = 0.054), with no statistically significant difference in the practice aspect before and after the intervention (P = 0.657). The interviews revealed that the intervention group experienced broadened perspectives and heightened environmental consciousness, although translating these into practice was challenged by unchanged daily routines. CONCLUSION This pilot program effectively enhanced some aspects of FL-related knowledge of participants. High satisfaction among participants and no dropouts indicated its potential for scaling. Future programs will benefit from strategies that facilitate the transition from educational improvement to practical application.