Antonio García-Hermoso, José Francisco López-Gil, Rodrigo Yáñez-Sepúlveda, Jorge Olivares-Arancibia, Jacqueline Páez-Herrera, Yasmin Ezzatvar
{"title":"Adherence to 24-hour movement guidelines in adolescence and its association with lower risk of hypertension in adulthood.","authors":"Antonio García-Hermoso, José Francisco López-Gil, Rodrigo Yáñez-Sepúlveda, Jorge Olivares-Arancibia, Jacqueline Páez-Herrera, Yasmin Ezzatvar","doi":"10.1007/s12519-025-00880-z","DOIUrl":"10.1007/s12519-025-00880-z","url":null,"abstract":"<p><strong>Background: </strong>There is limited research on how adherence to 24 h movement guidelines from adolescence to adulthood affects long-term hypertension outcomes. This study examined the association between sustained adherence to these guidelines and hypertension risk.</p><p><strong>Methods: </strong>Analysis was done on data from adolescents 12- to 19-year-olds who took part in Waves I and V of the Add Health Study. Physical activity (PA), screen time, and sleep duration were assessed through self-report questionnaires. Blood pressure (BP) was assessed on the right arm following a 5 min seated rest, utilizing an oscillometric device, and hypertension was defined as systolic/diastolic BP ≥ 140/90 mmHg, physician-diagnosed hypertension, or current antihypertensive medication use.</p><p><strong>Results: </strong>This prospective study included a total of 3076 participants (60.3% female), and 802 were diagnosed with hypertension. Meeting sleep duration guidelines at Wave I was associated with reductions in systolic [- 0.568 mmHg, 95% bias-corrected and accelerated (BCa) confident interval (CI) - 2.128 to - 0.011, P = 0.044] and diastolic (- 0.331 mmHg, 95% BCa CI - 1.506 to - 0.071, P = 0.043) BP at Wave V. Adherence to PA and sleep duration guidelines at both waves further reduced BP, with the greatest decreases observed among participants meeting all three guidelines: systolic (- 6.184 mmHg, 95% BCa CI - 13.45 to - 0.915, P = 0.040) and diastolic BP (- 3.156 mmHg, 95% BCa CI - 6.413 to - 0.120, P = 0.047). The risk of hypertension was lower among those who met the PA guidelines individually [relative risk (RR) 0.710, 95% CI 0.516-0.976, P = 0.035] or adhered to all three recommendations (RR 0.699, 95% CI 0.311-0.899, P = 0.030) in both waves.</p><p><strong>Conclusions: </strong>Our findings highlight the cardiovascular benefits of consistently adhering to healthy movement behaviors from adolescence through adulthood.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"284-290"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yejun Son, Seohyun Hong, Yesol Yim, Soeun Kim, Hojae Lee, Kyeongmin Lee, Hyeon Jin Kim, Hyesu Jo, Jaeyu Park, Jiyeon Oh, Sooji Lee, Hayeon Lee, Christa J Nehs, Lee Smith, Dong Keon Yon, Jiseung Kang
{"title":"Global prevalence of cannabis and amphetamine/methamphetamine use among adolescents in 47 countries: a population-based study from WHO database.","authors":"Yejun Son, Seohyun Hong, Yesol Yim, Soeun Kim, Hojae Lee, Kyeongmin Lee, Hyeon Jin Kim, Hyesu Jo, Jaeyu Park, Jiyeon Oh, Sooji Lee, Hayeon Lee, Christa J Nehs, Lee Smith, Dong Keon Yon, Jiseung Kang","doi":"10.1007/s12519-025-00883-w","DOIUrl":"10.1007/s12519-025-00883-w","url":null,"abstract":"<p><strong>Background: </strong>Adolescent drug use poses significant public health challenges worldwide, with detrimental effects on mental and physical health. Most existing research focuses on Western countries, holding a gap in understanding drug use in low- and middle-income countries. Thus, we aimed to assess the prevalence of cannabis and amphetamine or methamphetamine use among school-going adolescents aged 12-15 years across 47 countries globally.</p><p><strong>Methods: </strong>We used data from the Global School-based Student Health Survey from 47 countries (2009-2018) to analyze cannabis and amphetamine/methamphetamine use and age at first drug use among adolescents (n = 220,362). A meta-analysis utilizing random-effects models estimated prevalence rates and weighted linear regression analyzed trends. Student's t tests were used to compare two-subgroup categories, while one-way ANOVA was employed for analyses involving the four-subgroup category. Stratification analysis by sex, World Bank income category, region, and country-specific characteristics based on World Health Organization data were also performed.</p><p><strong>Results: </strong>The study included a total of 220,362 school-going adolescents aged 12-15 years (49.96% girls) from 47 countries. The overall prevalence of cannabis use was 7.02% [95% confidence interval (CI) 6.16-7.89], with higher usage among boys [9.20% (95% CI 8.05-10.36)] compared to girls [4.20% (95% CI 3.68-4.72)]. Amphetamine/methamphetamine use prevalence was 4.05% (95% CI 3.51-4.60), also higher among boys [5.14% (95% CI 4.45-5.84)] than girls [2.34% (95% CI 2.00-2.69)]. The region of the Americas exhibited the highest prevalence of cannabis use [11.31% (95% CI 8.44-14.17)], while the African region showed the highest prevalence of amphetamine use [4.34% (95% CI 3.14-5.53)]. High-income countries reported the highest prevalence of cannabis use [9.45% (95% CI, 6.06 to 12.84)], whereas low-income countries had the lowest [3.46% (95% CI 2.01-4.91)]. Higher prevalence rates were associated with countries having higher homicide rates, better sanitation services, and higher health expenditures.</p><p><strong>Conclusions: </strong>Cannabis use among adolescents is more prevalent than amphetamine or methamphetamine use, with significant sex differences showing higher prevalence among boys. The highest prevalence of cannabis use was observed in Latin America, while Africa exhibited the highest rates of amphetamine use. Findings from the present study indicate a need for public policies and programs targeting adolescents to effectively reduce adolescent drug use.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"291-305"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Tribute to Reviewers (January 1, 2024 to December 31, 2024).","authors":"","doi":"10.1007/s12519-025-00877-8","DOIUrl":"https://doi.org/10.1007/s12519-025-00877-8","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143256680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fernanda Valeriano Zamora, Andres Villca Zamora, Ana Clara Felix de Farias Santos
{"title":"Challenges and advances in the prevention and treatment of respiratory syncytial virus in infants.","authors":"Fernanda Valeriano Zamora, Andres Villca Zamora, Ana Clara Felix de Farias Santos","doi":"10.1007/s12519-024-00863-6","DOIUrl":"10.1007/s12519-024-00863-6","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"117-119"},"PeriodicalIF":6.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shan Cai, Huan Wang, Yi-Hang Zhang, Tian-Ming Zhao, Xin Yuan, Hui-Wen Deng, Yi-Pu Chen, Yun-Fei Liu, Jia-Jia Dang, Di Shi, Zi-Yue Chen, Jia-Xin Li, Tian-Yu Huang, Yang-Mu Huang, Yi-Fei Hu, Ya-Jun Chen, Gang He, Mei Wang, Jie Xu, Shi Chen, Zhi-Yong Zou, Yi Song
{"title":"Could physical activity promote indicators of physical and psychological health among children and adolescents? An umbrella review of meta-analyses of randomized controlled trials.","authors":"Shan Cai, Huan Wang, Yi-Hang Zhang, Tian-Ming Zhao, Xin Yuan, Hui-Wen Deng, Yi-Pu Chen, Yun-Fei Liu, Jia-Jia Dang, Di Shi, Zi-Yue Chen, Jia-Xin Li, Tian-Yu Huang, Yang-Mu Huang, Yi-Fei Hu, Ya-Jun Chen, Gang He, Mei Wang, Jie Xu, Shi Chen, Zhi-Yong Zou, Yi Song","doi":"10.1007/s12519-024-00874-3","DOIUrl":"10.1007/s12519-024-00874-3","url":null,"abstract":"<p><strong>Background: </strong>We performed an umbrella review to synthesize evidence on the effects of physical activity (PA) interventions on indicators of physical and psychological health among children and adolescents, including body mass index (BMI), blood pressure (BP), depressive symptoms, and cognitive function.</p><p><strong>Methods: </strong>PubMed, Embase, Web of Science, and the Cochrane Library were systematically searched from inception through 31 July 2023. We included meta-analyses of randomized controlled trials exploring the effects of PA interventions on BMI, BP, depressive symptoms, or cognitive function in healthy or general children and adolescents. Standard Mean Difference (SMD) was calculated for continuous outcome indicators, while Relative Risk (RR) was calculated for categorical outcome indicators.</p><p><strong>Results: </strong>A total of 21 meta-analyses were included. The evidence for the effects of PA interventions on reducing BMI [n = 68,368, SMD = - 0.04, 95% confidence interval (CI) = - 0.07 to - 0.01, P = 0.012, I<sup>2</sup> = 46.6%], relieving diastolic BP (n = 8204, SMD = - 1.16, 95% CI = - 2.12 to - 0.20, P = 0.018, I<sup>2</sup> = 83.1%), preventing depressive symptoms (n = 5146, SMD = - 0.21, 95% CI = - 0.31 to - 0.12, P < 0.001, I<sup>2</sup> = 29.0%), and promoting cognitive function (n = 19,955, SMD = 0.40, 95% CI = 0.27-0.54, P < 0.001, I<sup>2</sup> = 88.0%) was all weak but significant (class IV evidence). Subgroup analyses demonstrated that school-based and after-school PA interventions, curricular PA interventions, and PA interventions emphasizing enjoyment were more effective in reducing BMI, while curricular PA and sports programs achieved greater executive function.</p><p><strong>Conclusion: </strong>PA interventions could weakly reduce BMI, relieve BP, prevent depressive symptoms, and promote cognitive function in general children and adolescents. Targeted interventions on PA should be a priority to promote physical and psychological health for children and adolescents, especially the curricular PA emphasizing enjoyment in the school settings.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"159-173"},"PeriodicalIF":6.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Michaela Kuhlen, Andreas B Weins, Nicole Stadler, Daniela Angelova-Toshkina, Michael C Frühwald
{"title":"Non-malignant features of cancer predisposition syndromes manifesting in childhood and adolescence: a guide for the general pediatrician.","authors":"Michaela Kuhlen, Andreas B Weins, Nicole Stadler, Daniela Angelova-Toshkina, Michael C Frühwald","doi":"10.1007/s12519-024-00853-8","DOIUrl":"10.1007/s12519-024-00853-8","url":null,"abstract":"<p><strong>Purpose: </strong>Cancer predisposition syndromes are genetic disorders that significantly raise the risk of developing malignancies. Although the malignant manifestations of cancer predisposition syndromes are well-studied, recognizing their non-malignant features is crucial for early diagnosis, especially in children and adolescents.</p><p><strong>Methods: </strong>A comprehensive literature search was conducted using the PubMed database, focusing on non-malignant manifestations of cancer predisposition syndromes in children and adolescents. Key sources included the Clinical Cancer Research pediatric oncology series and ORPHANET. Studies that described clinical signs and symptoms affecting specific organ systems were included.</p><p><strong>Results: </strong>Non-malignant dermatological features often serve as early indicators of cancer predisposition syndromes, including café-au-lait spots in Neurofibromatosis Type 1 and facial angiofibromas in Tuberous Sclerosis Complex. Neurological and developmental anomalies such as cerebellar ataxia in ataxia-telangiectasia and intellectual disabilities in neurofibromatosis type 1 and tuberous sclerosis complex are significant indicators. Growth and metabolic anomalies are also notable, including overgrowth in Beckwith-Wiedemann syndrome and growth hormone deficiency in neurofibromatosis Type 1. In addition, facial anomalies, ocular manifestations, hearing issues, and thyroid anomalies are prevalent across various cancer predisposition syndromes. For instance, hearing loss may be significant in neurofibromatosis Type 2, while thyroid nodules are common in PTEN hamartoma tumor syndrome and DICER1 syndrome. Cardiovascular, abdominal, musculoskeletal, pulmonary, genitourinary manifestations, and prenatal deviations further complicate the clinical picture.</p><p><strong>Conclusions: </strong>Recognizing non-malignant features of cancer predisposition syndromes is essential for early diagnosis and management. This organ-specific overview furthers awareness among healthcare providers, facilitating timely genetic counseling, surveillance programs, and preventive measures, ultimately improving patient outcomes.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"131-148"},"PeriodicalIF":6.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885337/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Digital competency among pediatric healthcare workers and students: a questionnaire survey.","authors":"Sang-Sang Ren, Wei-Ze Xu, Zhi Chen, Jia-Jia Chen","doi":"10.1007/s12519-024-00866-3","DOIUrl":"10.1007/s12519-024-00866-3","url":null,"abstract":"<p><strong>Background: </strong>Digital technologies play an important role in improving the quality of healthcare services, however, many healthcare workers and students do not recognize this and have low levels of digital competencies and skills. Therefore, this paper aims to investigate digital perceptions and competencies among medical students in pediatrics and pediatric healthcare workers in China.</p><p><strong>Methods: </strong>A questionnaire on digital competency was designed. The formal survey was carried out from February to May 2024 in pediatric students and pediatricians. Data were analyzed by SPSS20.0 software.</p><p><strong>Results: </strong>The study included 518 valid questionnaires; 199 medical students in pediatrics and 319 pediatric healthcare workers. In all five themes, pediatric healthcare workers and pediatric students had a mean score higher than 3.0, and the former scored higher. There was no significant difference in the digital competency in pediatricians (3.91) compared to pediatric students (3.82) (P > 0.05). Multivariable analysis revealed that gender and education level were related with digital competency, with male medical students (3.94 vs. 3.75, P = 0.021) and those with higher levels of education (3.99 vs. 3.75, P = 0.030) having better performance. In addition, medical students in pediatric surgery scored higher than those who majored in internal pediatrics (4.11 vs. 3.76, P = 0.017).</p><p><strong>Conclusions: </strong>Pediatric students and pediatric healthcare workers had a good perception on information of digital technology in the medical field, but had limited ability in digital use and collaboration, digital capacity development, and digital content creation. Better medical education and training strategies should be developed for potential challenges in the coming artificial intelligence era.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"192-198"},"PeriodicalIF":6.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142923653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sai-Shuang Wu, Hao Pan, Radley Christopher Sheldrick, Jie Shao, Xiu-Mei Liu, Shuang-Shuang Zheng, Sergio Miguel Pereira Soares, Lan Zhang, Jin Sun, Ping Xu, Shao-Hong Chen, Tao Sun, Jin-Wen Pang, Ning Wu, Yuan-Cong Feng, Na-Ren Chen, Yun-Ting Zhang, Fan Jiang
{"title":"Development and validation of the Parent-Reported Indicator of Developmental Evaluation for Chinese Children (PRIDE) tool.","authors":"Sai-Shuang Wu, Hao Pan, Radley Christopher Sheldrick, Jie Shao, Xiu-Mei Liu, Shuang-Shuang Zheng, Sergio Miguel Pereira Soares, Lan Zhang, Jin Sun, Ping Xu, Shao-Hong Chen, Tao Sun, Jin-Wen Pang, Ning Wu, Yuan-Cong Feng, Na-Ren Chen, Yun-Ting Zhang, Fan Jiang","doi":"10.1007/s12519-025-00878-7","DOIUrl":"10.1007/s12519-025-00878-7","url":null,"abstract":"<p><strong>Background: </strong>Developmental delay (DD) poses challenges to children's overall development, necessitating early detection and intervention. Existing screening tools in China focus mainly on children with developmental issues in two or more domains, diagnosed as global developmental delay (GDD). However, the recent rise of early childhood development (ECD) concepts has expanded the focus to include not only those with severe brain development impairments but also children who lag in specific domains due to various social-environmental factors, with the aim of promoting positive development through active intervention. To support this approach, corresponding screening tools need to be developed.</p><p><strong>Methods: </strong>The current study used a two-phase design to develop and validate the Parent-Reported Indicator of Developmental Evaluation for Chinese Children (PRIDE) tool. In Phase 1, age-specific milestone forms for PRIDE were created through a survey conducted in urban and rural primary care clinics across four economic regions in China. In Phase 2, PRIDE was validated in a community-based sample. Sensitivity and specificity of both PRIDE and Ages and Stages Questionnaires (ASQ)-3 were estimated using inverse probability weights (IPW) and multiple imputation (MI) to address planned and unplanned missing data.</p><p><strong>Results: </strong>In Phase 1 involving a total of 1160 participants aged 1 to 48 months, 63 items were selected from the initial item pool to create 10 age-specific PRIDE forms. Our Phase 2 study included 777 children within the same age range. PRIDE demonstrated an estimated sensitivity and specificity of 83.3% [95% confidence interval (CI): 56.8%-100.0%] and 84.9% (95% CI: 82.8%-86.9%) in the identification of DD.</p><p><strong>Conclusion: </strong>The findings suggest that PRIDE holds promise as a sensitive tool for detecting DD in community settings.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"183-191"},"PeriodicalIF":6.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Challenges and overcoming strategies in CAR-T cell therapy for pediatric neuroblastoma.","authors":"Pei-Ting Ying, Yong-Min Tang","doi":"10.1007/s12519-025-00876-9","DOIUrl":"10.1007/s12519-025-00876-9","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"123-130"},"PeriodicalIF":6.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome.","authors":"Mei-Jiao Zhang, De Wu, Li-Fei Yu, Hua Li, Dan Sun, Jian-Min Liang, Xiao-Peng Lu, Rong Luo, Qing-Hui Guo, Rui-Feng Jin, Hong-Wei Zhang, Ge-Fei Lei, Ruo-Peng Sun, Man Wang, You-Feng Zhou, Ying-Yan Wang, Ji-Hong Tang, Ying Hua, Xu-Lai Shi, Xiao-Ming Liu, Xiu-Yu Shi, Guang Yang, Hua Wang, Feng Gao, Tian-Ming Jia, Ji-Wen Wang, Jian-Xiang Liao, Xin-Hua Bao","doi":"10.1007/s12519-024-00864-5","DOIUrl":"10.1007/s12519-024-00864-5","url":null,"abstract":"<p><strong>Background: </strong>Glucose transporter 1 deficiency syndrome (Glut1DS) was initially reported by De Vivo and colleagues in 1991. This disease arises from mutations in the SLC2A1 and presents with a broad clinical spectrum. It is a treatable neuro-metabolic condition, where prompt diagnosis and initiation of ketogenic dietary therapy can markedly enhance the prognosis. However, due to its rarity, Glut1DS is susceptible to misdiagnosis or missed diagnosis, which can lead to delayed treatment and irreversible dysfunction of the central nervous system. To promote diagnostic awareness and effective treatments, the recommendations for diagnosis and treatment have been developed.</p><p><strong>Methods: </strong>The panel on Glut1DS included 28 participants from the members of the Ketogenic Diet Professional Committee of the Chinese Epilepsy Association and Chinese experts with extensive experience in managing Glut1DS. All authors extensively reviewed the literature, and the survey results were discussed in detail over several online meetings. Following multiple deliberative sessions, all participants approved the final manuscript for submission.</p><p><strong>Results: </strong>Early diagnosis and timely treatment of Glut1DS are crucial for improving prognosis. Physicians should be alert to suspiction of this disease if the following clinical manifestations appear: seizures, episodic or persistent movement disorders (often triggered by fasting, fatigue, or exercise), delayed motor and cognitive development. Characteristic clinical presentations may include seizures combined with movement disorders, episodic eye-head movements, and paroxysmal exercise-induced dyskinesia (PED). In these cases, genetic testing should be promptly completed, and a lumbar puncture should be performed if necessary. The ketogenic diet is internationally recognized as the first-line treatment; the earlier it is started, the better the prognosis. It can effectively control seizures and improve motor disorders. Antiepileptic drug treatment is generally ineffective or provides limited symptom improvement before starting the ketogenic diet.</p><p><strong>Conclusion: </strong>The recommendations provide clinicians with a relatively systematic guide for the rapid identification, diagnosis, and timely treatment of Glut1DS.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"149-158"},"PeriodicalIF":6.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}