Pediatric Diabetes最新文献

{"title":"Assessment of Health-Related Quality of Life Among Palestinian Adolescents With Type 1 Diabetes: A Cross-Sectional Investigation.","authors":"Farah Sadder, Maysaa Nemer","doi":"10.1155/pedi/3568243","DOIUrl":"https://doi.org/10.1155/pedi/3568243","url":null,"abstract":"<p><p><b>Objectives:</b> Type 1 diabetes (T1D) with its worldwide increasing incidence is one of the most serious chronic conditions of adolescence. This study aimed to assess the Palestinian adolescent diabetic patients' health-related quality of life (HRQOL) and to identify specific factors that could predict poor quality of life. We also aimed to compare adolescents' reported HRQOL to proxy reports by their parents. <b>Methods:</b> A cross-sectional study was carried out between November 2022 and October 2023 in the six governorates of northern West Bank/Palestine: Jenin, Nablus, Qalqilya, Salfit, Tubas, and Tulkarm. Patients who were diagnosed with T1D for over 6 months from their recruitment, aged between 10 and 18 years, were recruited from diabetes clinics of the Ministry of Health (MOH) and the Palestine Diabetes Institute (PDI). One hundred seventy adolescents and 170 parents (or guardians) completed the Pediatric Quality of Life Inventory (Peds QL) 3.2 Diabetes Module for adolescents and parents, respectively. <b>Results:</b> An acceptable mean of 70.6 for the total score was reported for the Peds QL 3.2 Diabetes Module. Better scores were reported for the diabetes management summary score compared to the diabetes symptom summary score. Worry and communication were the lowest and highest reported subscores, respectively. Parents reported significantly lower results than adolescents. Income, gender, and hemoglobin A1c (HbA1c) were the main predictors of HRQOL among adolescents with T1D in Palestine. <b>Conclusions:</b> Future national health strategies should consider income differences and try to overcome health gaps among adolescents with T1D coming from low-income families. Future research is needed to explore the political and cultural aspects and their effects on HRQOL among diabetic adolescents in Palestine.</p>","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":"2025 ","pages":"3568243"},"PeriodicalIF":3.9,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transition of Adolescents With Diabetes Mellitus to Adult Care at the Ho Teaching Hospital in Ghana.","authors":"Ruth Nimota Nukpezah, Cyril Charles Tsigbe","doi":"10.1155/pedi/7577764","DOIUrl":"https://doi.org/10.1155/pedi/7577764","url":null,"abstract":"<p><p><b>Background:</b> Transitioning adolescents with diabetes from pediatric to adult care poses significant challenges, especially in low-resource settings like Ghana. Poorly coordinated transitions can disrupt care continuity and adversely impact health outcomes. <b>Objective:</b> This study explored how adolescents with diabetes mellitus (DM) transition from pediatric to adult care at Ho Teaching Hospital, Ghana. <b>Methods:</b> A qualitative exploratory-descriptive design was used. Semistructured interviews were conducted with 15 adolescents and their caregivers. Thematic analysis was applied to identify key themes and subthemes. <b>Findings:</b> Six key themes emerged: (1) inadequate education on DM management, with gaps in adolescents' and caregivers' understanding of the disease and emergency symptoms; (2) limited self-management skills, with caregivers performing most care tasks; (3) poor timing and uncoordinated transfer, with abrupt transitions at age 13; (4) overreliance on caregivers, as caregivers were hesitant to shift responsibilities to adolescents; (5) limited adolescent involvement in care decisions, with healthcare providers engaging more with caregivers; and (6) recommendations for transition improvement, including raising the transfer age, providing skills training, and establishing a transition clinic. <b>Conclusion:</b> The study underscores the need for a structured, developmentally appropriate transition process with targeted education, skills training, and adolescent participation to promote self-management and improve transition outcomes for adolescents with DM.</p>","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":"2025 ","pages":"7577764"},"PeriodicalIF":3.9,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016680/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144024113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sociocultural Attitudes Toward Appearance and Attitudes Toward Eating in Adolescents With Type 1 Diabetes: The Importance of Perfectionism.","authors":"Desireé Ruiz-Aranda, Ana Luque, Francesca Russo, Javier Fenollar-Cortés","doi":"10.1155/pedi/9993342","DOIUrl":"https://doi.org/10.1155/pedi/9993342","url":null,"abstract":"<p><p><b>Objective:</b> Adolescents managing type 1 diabetes (T1D) are at increased risk of experiencing eating disorders (EDs). Identifying risk factors is essential to develop preventive strategies. This study examines the potential mediation value of self-esteem and the perfectionism associated with EDs in the relationship between sociocultural attitudes toward appearance and eating attitudes related to EDs in a sample of adolescents with T1D. <b>Methods:</b> Forty-six adolescents aged 12-17 years diagnosed with T1D participated in the current study. Sociocultural attitudes toward appearance, perfectionism associated with EDs, and self-esteem were measured. Multiple and simple mediator analyses using the bootstrapping method with bias-corrected confidence estimates were conducted. <b>Results:</b> Our results show that perfectionism associated with eating problems is not only related to sociocultural attitudes toward appearance and eating attitudes, but rather the relationship between these last two variables would be fully mediated by perfectionism. <b>Conclusions:</b> A high degree of perfectionism could be a risk variable when developing potential eating problems in T1D adolescents. Perfectionism and its self-management would be a prominent factor that may help to design interventions developed for adolescents with diabetes who show behaviors that potentially conflict with eating. The clinical implications are discussed.</p>","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":"2025 ","pages":"9993342"},"PeriodicalIF":3.9,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016973/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.","authors":"Yu Ding, Qianwen Zhang, Shiyang Gao, Juan Li, Guoying Chang, Yirou Wang, Libo Wang, Xin Li, Yao Chen, Ru-En Yao, Tingting Yu, Niu Li, Dan Lou, Xiumin Wang","doi":"10.1155/pedi/8155443","DOIUrl":"https://doi.org/10.1155/pedi/8155443","url":null,"abstract":"<p><p><b>Background:</b> In this study, we analysed the clinical and genetic characteristics and follow-up data of patients with maturity-onset diabetes of the young (MODY). <b>Methods:</b> From January 2015 to December 2022, patients with persistent hyperglycaemia suspected of having monogenic diabetes or diabetes syndrome were recruited, and next-generation sequencing (NGS) was performed at the Shanghai Children's Medical Center. Patients' clinical and laboratory findings were recorded preceding follow-ups. Candidate variants were verified using Sanger sequencing. Variant pathogenicity was evaluated according to the American College of Medical Genetics and Genomics (ACMG) guidelines. <b>Results:</b> Genetic testing was performed in 175 children. MODY-related pathogenic or likely pathogenic gene variants were identified in 30 patients from different families. Of these, 11 were diagnosed with <i>GCK</i>-MODY (36.7%), six with <i>INS</i>-MODY (20%), five with <i>HNF1A</i>-MODY (16.7%), five with <i>ABCC8</i>-MODY (16.7%), two with <i>HNF1B</i>-MODY (6.7%) and one with <i>HNF4A</i>-MODY (3.3%). There was one shift variant and seven splice-site variants, and the rest were missense variants. We discovered six novel variants. Of the 30 patients, 63.3% had a family history of diabetes, 13.3% had diabetic ketoacidosis (DKA), and 16.7% had positive diabetes-associated autoantibodies. The diabetes phenotype of patients with the <i>INS</i> variant was similar to that of patients with type 1 diabetes. All patients, including those having positive autoantibodies, required long-term insulin therapy during follow-ups. Four patients with the <i>ABCC8</i> variant were unable to switch to oral sulfonylurea therapy and continued insulin therapy. <b>Conclusion:</b> Genetic testing is helpful for the precise diagnosis and treatment of patients with MODY, including those with DKA history and positive diabetes autoantibody. <i>GCK</i>-MODY is the most common type of MODY, and patients with <i>INS</i> variant account for a relatively large proportion of MODY cases in our cohort.</p>","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":"2025 ","pages":"8155443"},"PeriodicalIF":3.9,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12017003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144064350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diabetes Distress and Unmet Support Needs Hinder Optimal Care for Adolescents With Type 2 Diabetes: A Mixed Methods Study.","authors":"Dana Spajic, Jacqueline Curran, Yasmin Luu, Mark A E Shah, Gitanjali Subramani, Radhika James, Melissa Oxlad, Jane Speight, Alexia S Peña","doi":"10.1155/pedi/5574666","DOIUrl":"https://doi.org/10.1155/pedi/5574666","url":null,"abstract":"<p><p><b>Objectives:</b> Adolescents with type 2 diabetes (T2D) are more likely than those with type 1 diabetes (T1D) to develop complications soon after diagnosis. However, limited data exist about diabetes-specific distress (DD) and how diabetes teams can better support adolescents with T2D. We aimed to assess DD and other aspects of emotional/mental health among adolescents with T2D and qualitatively explore their lived experience and support needs. <b>Methods:</b> This study used a cross-sectional mixed methods survey of adolescents with T2D, recruited via two tertiary diabetes clinics. Study outcomes included the Diabetes Distress Scale (DDS), World Health Organization-Five Well-being Index (WHO-5), Patient Health Questionnaire-2 (PHQ-2) and two free-text questions concerning what they wished their health professionals understood about living with T2D and diabetes support. Descriptive statistics and inductive thematic analysis were applied. <b>Results:</b> Forty adolescents with T2D (22 females, predominantly from non-Indigenous background) completed all questionnaires. Nineteen were taking metformin, 18 were taking metformin plus injectables, and 3 were on lifestyle management. They had mean ± standard deviation (SD) age of 15.7 ± 2.1 years, median (interquartile range [IQR]) diabetes duration of 1.8 (0.8-2.6) years and median (IQR) glycated haemoglobin (HbA1c) of 6.9 (6.0-9.5)% (52 [42-80] mmol/mol). Twenty-one (53%) adolescents had moderate-to-severe DD, 16 (40%) had suboptimal emotional well-being, and 23 (58%) had depressive symptoms; 15 (38%) had both DD and depressive symptoms, while 11 (28%) had neither. Four themes described what adolescents wished their health professionals understood about living with diabetes: diabetes stigma, diabetes management burden, diabetes is challenging for young people and impact on mental health. Five themes described the support adolescents desired from their diabetes teams: show empathy and assist with motivation; mental health support; more frequent and convenient appointments; access to, and choice of, medications and management tools; and discussions about the future. <b>Conclusions:</b> Most adolescents with T2D experience significant DD, impaired general emotional well-being and/or depressive symptoms. They also have considerable unmet support needs relevant to optimising their well-being and diabetes self-management.</p>","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":"2025 ","pages":"5574666"},"PeriodicalIF":3.9,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12017189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143973331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-World Insights Into Hypoglycemia Risk While Driving in Teens and Young Adults With Type 1 Diabetes.","authors":"Kalyan Pamidimukkala, Michael L Ferm, Madhav Erraguntla, Balakrishna Haridas, Achu Byju, Mark Lawley, Sruthi Menon, Carolina Villegas, Siripoom McKay, Daniel J DeSalvo","doi":"10.1155/pedi/5053872","DOIUrl":"https://doi.org/10.1155/pedi/5053872","url":null,"abstract":"<p><p><b>Background:</b> Clinical guidelines on driving for people with diabetes exist, but there are limited studies analyzing glucose data and hypoglycemia risk while driving. No published studies have analyzed teenage or emerging adult drivers with type 1 diabetes (T1D). The primary aim of our pilot study was to explore the glycemic patterns of young drivers with T1D as they relate to clinical guidelines and identify trends that could be used to improve road safety. <b>Methods:</b> In this pilot study, we collected continuous glucose monitoring (CGM) data from five drivers with T1D (median age 19, range 17-21 years) over a 1-month period. The driving trips were divided into two categories: (1) <i>Short trips</i> (<60 min) and (2) <i>Long trips</i> (≥60 min). Hypoglycemia was defined as <70 mg/dL as recorded by CGM for at least four consecutive readings. Trips <10 min were excluded from the analysis. <b>Results:</b> Data on 284 total trips with associated CGM readings were recorded. The average number of trips taken by drivers during the study was 56.8 trips (range 9-82). For short trips (<i>n</i> = 276), no episodes of hypoglycemia occurred when starting glucose was >90 mg/dL (<i>n</i> = 227). For short trips with starting glucose of 70-90 mg/dL (<i>n</i> = 32), each hypoglycemic event (<i>n</i> = 5) had a drop in the first CGM glucose value while driving. Seventeen (5.7%) of short trips started with a glucose <70 mg/dL. A total of eight long trips (>60 min) were recorded, all had a starting CGM value of >90 mg/dL, and none had hypoglycemia events. <b>Conclusions:</b> These real-world findings from a small sample of teenage and young adult drivers with T1D support the American Diabetes Association (ADA) recommendation for starting glucose of >90 mg/dL when driving. Larger studies would be helpful in clearly identifying and improving road safety concerns in young drivers with T1D.</p>","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":"2025 ","pages":"5053872"},"PeriodicalIF":3.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016719/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Follow-Up Model for Type 1 Diabetes in Children Leads to Higher Glycemic Control.","authors":"Julia Vonasek, Isabelle M Larsen, Amar Nikontovic, Camilla Maria Thorvig","doi":"10.1155/pedi/6920068","DOIUrl":"https://doi.org/10.1155/pedi/6920068","url":null,"abstract":"<p><p><b>Background:</b> Poor glycemic control in type 1 diabetes (T1D) in children leads to a higher risk of diabetic complications. In the pediatric department at the North Denmark Regional Hospital, only one-third of all children with diabetes were well-regulated, defined as HbA_1c no more than 58 mmol/mol (7.5%), in 2016. Therefore, a novel follow-up model was developed to increase the proportion of children with well-regulated T1Ds. The aim of this study was to evaluate the effect of a standardized follow-up model for poorly regulated diabetes on mean HbA_1c. <b>Methods:</b> All children aged 0-18 with T1Ds were included in this study. A novel standardized follow-up model was developed if HbA_1c was greater than 58 mmol/mol (7.5%), in which children were followed more closely until improvement in glycemic control. <b>Results:</b> In the reference year, only one-third of children with diabetes were well-regulated and 19% were poorly regulated (HbA_1c greater than 75 mmol/mol (9.0%)). After fully implementing the model, two-thirds of the children had well-regulated diabetes, and only a few percent had poorly regulated diabetes. The mean HbA_1c decreased by almost 10 mmol/mol (or 0.8%) from the reference year to the following years when the model was fully implemented. <b>Conclusion:</b> This follow-up model for poorly regulated diabetes increased the fraction of children with well-regulated diabetes in our clinic and significantly decreased mean HbA_1c.</p>","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":"2025 ","pages":"6920068"},"PeriodicalIF":3.9,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12017064/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144008306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient Characteristics Associated With Annual Nutrition Visits in Children With Type 1 Diabetes.","authors":"Svetlana Azova, Belinda S Lennerz, Carter R Petty, Erin Gordon, Hannah Michelson, Anna Schmidt, Katharine Garvey, Erinn T Rhodes","doi":"10.1155/pedi/4108685","DOIUrl":"https://doi.org/10.1155/pedi/4108685","url":null,"abstract":"<p><strong>Objective: </strong>Diabetes organizations recommend nutrition education by a registered dietitian (RD) at least annually following type 1 diabetes (T1D) diagnosis in children. The study objectives were to describe differences over time in annual RD follow-up in children with T1D and to identify patient characteristics associated with RD engagement.</p><p><strong>Research design and methods: </strong>Data based on 6034 completed diabetes medical visits among 1982 patients aged <18 years with T1D for ≥1 year followed at a pediatric, tertiary care, academic medical center over a 5-year period (2018-2022) were analyzed. Generalized estimating equations models assessed for differences over time in the rates of RD visit completion in the year preceding the last diabetes medical encounter and identified sociodemographic, diabetes care-related, and clinical patient characteristics associated with RD follow-up. Models were fit for the whole sample and groups subset by race and ethnicity.</p><p><strong>Results: </strong>Observed annual RD follow-up rate over the 5-year period was 20.8%, with the lowest adjusted percentage in 2021 compared to 2018. In multivariable analysis, for each year increase in age (<i>p</i> = 0.004) and diabetes duration (<i>p</i><0.001), there was a 3% and 15% reduction in the odds of RD follow-up, respectively. RD follow-up was associated with lower hemoglobin A1c within the subsequent year in adjusted analysis (<i>p</i> = 0.029), with the greatest improvement among Hispanic patients.</p><p><strong>Conclusions: </strong>Annual RD visit frequency among children with T1D is suboptimal. Study findings provide insights for targeted intervention to improve RD engagement. RD follow-up may be associated with improved glycemic outcomes.</p>","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":"2025 ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12047747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes.","authors":"Michael E McCullough, Lisa R Letourneau-Freiberg, Tiana L Bowden, Balamurugan Kandasamy, Angela Ray, Kristen Wroblewski, Daniela Del Gaudio, Deborah J G Mackay, Louis H Philipson, Siri Atma W Greeley","doi":"10.1155/pedi/3624339","DOIUrl":"https://doi.org/10.1155/pedi/3624339","url":null,"abstract":"<p><p><b>Introduction:</b> Transient neonatal diabetes mellitus (TNDM) is a heterogeneous subtype of neonatal diabetes that usually presents within the first days or weeks of life, spontaneously remits in infancy, but can recur in childhood or adolescence as a permanent form of diabetes. Approximately 70% of TNDM cases are due to overexpression of genes at chromosome 6q24 (6q24-TNDM) caused by one of three potential mechanisms: paternal uniparental disomy (pUPD6), paternal duplication, or hypomethylation of the maternal allele. Our aim was to further elucidate the clinical characteristics of a relatively large group of individuals with this rare condition. <b>Methods:</b> Participants with a genetically confirmed diagnosis of 6q24-TNDM were identified through the University of Chicago Monogenic Diabetes Registry. Some participants had testing done on a clinical basis, with the remainder having received research-based genetic testing. Clinical information was extracted from survey responses and medical records. <b>Results:</b> There were 33 participants with 6q24-TNDM (58% were male). Eight (24%) had hypomethylation of the maternal allele, seven (21%) had paternal duplication, 17 (52%) had pUPD6, and one individual had 6q24 hypomethylation of unknown etiology. The median age of initial diabetes presentation was 2 days (<i>n</i> = 33). Remission occurred at a median age of 3 months (<i>n</i> = 28). The median age of relapse was 14 years (range 12-31 years, <i>n</i> = 9). The majority (71%) of participants were born small for gestational age and 32% of participants were born before 37 weeks gestation. The most common extra-pancreatic features were umbilical hernia (22%, <i>n</i> = 6/27), macroglossia (56%, <i>n</i> = 15/27), and speech pathologies (36%, <i>n</i> = 10/28). No significant differences in clinical characteristics were identified across the three genetic etiologies (pUPD6, paternal duplication, maternal hypomethylation). <b>Conclusions:</b> Clinical characteristics were not different across underlying genetic mechanism groups, suggesting that genetic testing is required to definitively determine the mechanism and diagnosis of 6q24-TNDM. Clarification of the specific underlying mechanism is strongly encouraged to clarify recurrence risk, but whether these subcategories may have other clinically relevant differences remains to be elucidated. Early assessment for speech therapy should be considered for this patient population. We recommend that patients in remission be equipped to check blood glucose levels as needed, such as during illness, and should continue seeing a diabetes provider at least occasionally, especially around the time of puberty and thereafter.</p>","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":"2024 ","pages":"3624339"},"PeriodicalIF":3.9,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020819/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144041995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients.","authors":"Ming Cheng, Chang Su, Dongmei Wang, Yanning Song, Yang Li, He Zeng, Zheng Yuan, Xiaoqiao Li, Xi Meng, Yuan Ding, Bingyan Cao, Chunxiu Gong","doi":"10.1155/2024/3961900","DOIUrl":"https://doi.org/10.1155/2024/3961900","url":null,"abstract":"<p><p><b>Objective:</b> There is a notable absence of extensive Chinese studies involving monogenic congenital hyperinsulinism (CHI). The purpose of this large retrospective Chinese cohort with monogenic CHI from a national children's medical center was to analyze the genetic and clinical characteristics. <b>Methods:</b> We compared clinical characteristics grouped by genotypes based on CHI-targeted next-generation sequencing (tNGS) and performed subgroup analyses by onset time. <b>Results:</b> Totally, 121 non-consanguineous patients were enrolled. Among them, 79 patients (65.3%) had variants in ATP-sensitive potassium channel (<i>KATP</i>) genes (62 heterozygotes and 17 compound heterozygotes), 35 (28.9%) in glutamate dehydrogenase 1 (<i>GLUD1</i>), and 7 (5.8%) in rare genes (hydroxyacyl-CoA dehydrogenase [<i>HADH</i>], glucokinase [<i>GCK</i>], and hepatocyte nuclear factor 4 alpha [<i>HNF4A</i>]). Ten patients had ATP binding cassette subfamily C member 8 (<i>ABCC8</i>) variants (p.G111R), and 12 had <i>GLUD1</i> variants (p.S498L), suggesting two potential founder variants. Three <i>ABCC8</i> variants (p.G1478R, p.L580_S581insFASL, and p.S986<i>⁣</i> ^<i>∗</i> ) and two <i>HNF4A</i> variants (p.R63W and p.V382I) were previously reported to be associated with diabetes. Non-surgical treatment was effective in 65.9% of patients with <i>KATP</i> variants, while in 100% of those with non-<i>KATP</i> variants. For the subgroup of <i>KATP</i> variants, neonatal-onset patients tended to present with mild symptoms (67.9% versus 19.3%), had a higher proportion of surgical intervention (24.5% versus 3.8%), and displayed higher levels of serum insulin and C-peptide than non-neonatal onset ones (<i>p</i> < 0.001). <b>Conclusion:</b> The absence of homozygous variants in <i>KATP</i> genes and a quite higher proportion of <i>GLUD1</i> variants than previous cohorts, may explain a high response rate of non-surgical treatment in this study. Surgery might be considered for neonatal-onset children, especially when <i>KATP</i> variants were discovered but not for those carried variants reported to cause diabetes in later life. While expanding the genotypic spectrum, we also highlight the clinical significance of genetic screening.</p>","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":"2024 ","pages":"3961900"},"PeriodicalIF":3.9,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144024196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}