Fiona Lieu, Wrivu N. Martin, Stewart Birt, Joerg Mattes, Richard G. McGee
{"title":"Development of a Multivariable Risk Prediction Tool to Predict Adverse Outcomes among Children with Type 1 Diabetes: A Pilot Study","authors":"Fiona Lieu, Wrivu N. Martin, Stewart Birt, Joerg Mattes, Richard G. McGee","doi":"10.1155/2024/8335604","DOIUrl":"https://doi.org/10.1155/2024/8335604","url":null,"abstract":"Background. Children and adolescents with type 1 diabetes mellitus (T1DM) are frequently hospitalised for severe hypoglycaemia, hyperglycaemia, and diabetic ketoacidosis (DKA). While several risk factors have been recognised, clinically identifying these children at high risk of acute decompensation remains challenging. Objective. To develop a risk prediction model to accurately estimate the risk of acute healthcare utilisation due to severe hypoglycaemia, hyperglycaemia, and DKA in children and adolescents with T1DM. Materials and Methods. Using a retrospective dataset, baseline demographic and clinical data were collected from patients (<18 years) seen at a regional paediatric diabetes clinic from 1 January 2018 to 1 January 2020. The outcome was the number of emergency department presentations or hospital admissions for severe hypoglycaemia, hyperglycaemia, and DKA across the study period. Variables that were significant in univariate analysis were entered into a multivariable model. Receiver operator characteristic (ROC) curves assessed the model’s discrimination and generated cut-offs for risk group stratification (low, medium, and high). Kaplan–Meier survival analysis measured time to acute healthcare utilisation across the risk groups. Results. Our multivariable risk prediction model consisted of five predictors (continuous glucose monitoring device, previous acute healthcare utilisation, missed appointments, and child welfare services involvement and socioeconomic status). The model exhibited good discrimination (area under the ROC = 0.81), accurately stratified children into low-, medium-, and high-risk groups, and demonstrated significant differences between median time to healthcare utilisation. Conclusion. Our model identified patients at an increased risk of acute healthcare utilisation due to severe hypoglycaemia, hyperglycaemia, and DKA.","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141122518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Associations of Area-Level and Parental Individual-Level Social Deprivation with Glycemic Control over Time among Children with Type 1 Diabetes in France: A Longitudinal Cohort Study","authors":"Isaline Morard, Pascal Barat, M. Bailhache","doi":"10.1155/2024/9634867","DOIUrl":"https://doi.org/10.1155/2024/9634867","url":null,"abstract":"Background. Poor glycemic control in patients with type 1 diabetes (T1D) is associated with greater social deprivation. However, the evidence is inconsistent in terms of the type of social deprivation (individual-level or area-level) and whether glycemic control changes over time. Here, we investigated the impacts of individual-level and area-level social deprivation on the glycated hemoglobin (HbA1c) trajectory from the time of T1D diagnosis. Materials and Methods. We retrospectively analyzed a cohort of children who were diagnosed with T1D between 2017 and 2020 at Bordeaux University Hospital. Social deprivation was assessed using both parental individual indicator (EPICES score) and ecological indicator (European Deprivation Index (EDI) score). Piecewise linear mixed-effects models were used to estimate the effects of social deprivation on HbA1c trajectory. Results. We included 168 patients. The most-deprived group included 29% and 22% of all patients, as revealed by the respective EPICES and EDI scores. The two indicators were poorly correlated. The short-term decrease in HbA1c level tended to be smaller in the most-deprived patients over the first 4 months after diagnosis than in other patients (slope difference of 2.68% per year compared with the slope among the least-deprived patients, P=0.056). The long-term trajectory was influenced by area-level deprivation (EDI score); the least-deprived patients (quintile 1) exhibited more stable mean HbA1c levels. Conclusions. Social deprivation may partially explain poor glycemic control in some patients; both short-term individual deprivation and long-term area-level deprivation may be involved. Further research is needed to determine how to integrate this information into a therapeutic strategy.","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141118836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Igor A. Carvalho-Ribeiro, Letícia C. F. Cunha, Lorena R. Ribeiro, Matheus N. Lima, Breno A. Ferreira-Silva, Juliana S. Rajão, J. C. Bittencourt, Juliana F. A. Pinheiro, M. Rodrigues-Machado
{"title":"Adolescents and Young Adults with Type 1 Diabetes Present Changes in Arterial Compliance and Resistance and Increased Arterial Stiffness","authors":"Igor A. Carvalho-Ribeiro, Letícia C. F. Cunha, Lorena R. Ribeiro, Matheus N. Lima, Breno A. Ferreira-Silva, Juliana S. Rajão, J. C. Bittencourt, Juliana F. A. Pinheiro, M. Rodrigues-Machado","doi":"10.1155/2024/9919121","DOIUrl":"https://doi.org/10.1155/2024/9919121","url":null,"abstract":"Introduction. Cardiovascular disease (CVD) is highly prevalent in patients with type 1 diabetes (T1DM) and is responsible for a significant reduction in life expectancy. Objective. To compare the arterial stiffness indices, arterial compliance and vascular resistance assessed centrally and peripherally between healthy adolescents and young adults (CTRL group) and those with T1DM. Methods. This is an observational cross-sectional study involving 90 adolescents and young adults, with half of them being considered healthy (n = 45) and the other half with T1DM (n = 45), matched by age and sex. Cardiovascular parameters were evaluated using the oscillometric method of brachial artery pressure assessment for a noninvasive estimation of central arterial pressures. Results. Weight and body mass index were significantly higher in the T1DM group. AIx@75 was significantly higher in the T1DM group (24.96% ± 8.88%) compared to the CTRL (20.16% ± 9.95%). Peripheral and central arterial compliance were significantly lower in the T1DM group (0.79 ± 0.21; 1.16 ± 0.27 ml/m2/mmHg) compared to the CTRL (0.98 ± 0.32; 1.47 ± 0.61 ml/m2/mmHg). Peripheral and central vascular resistance were significantly higher in the T1DM group (1.32 ± 0.32; 0.91 ± 0.21 mmHg/ml/m2) compared to the CTRL (1.11 ± 0.30; 0.75 ± 0.22 mmHg/ml/m2). Conclusion. Our data confirm premature aging of the vascular system in adolescents and young adults with T1DM and extend our knowledge by showing important changes in central and peripheral hemodynamics indices.","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140690306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Myra S. Poon, Albert K Chan, Janine M. Cusumano, Maria E. Craig, K. Donaghue
{"title":"Complications during Adolescence Predict Mortality in Young Adults with Childhood Onset Type 1 Diabetes","authors":"Myra S. Poon, Albert K Chan, Janine M. Cusumano, Maria E. Craig, K. Donaghue","doi":"10.1155/2024/8194756","DOIUrl":"https://doi.org/10.1155/2024/8194756","url":null,"abstract":"Objective. Microvascular complications increase the risk of cardiovascular disease and premature death in adults with type 1 diabetes. We examined the association between microvascular complications during adolescence, including cardiac autonomic nerve dysfunction and subsequent mortality. Research Design and Methods. We undertook data linkage with the Australian National Death Index in a cohort of 409 adolescents (diagnosed between 1973 and 1993), 48% male, median age at final complications assessment 17.4 years (interquartile range: 16.0–18.9), followed longitudinally for median 22.3 years (21.0–23.4) from diagnosis. Generalized estimating equations (GEE) were used to examine associations between mortality and adolescent complications. Mortality risk was calculated as standardized mortality ratio (SMR). Results. At final adolescent visit, 20% had CAN abnormality, 30% abnormal pupillary response, 20% albuminuria, 40% early elevation of albumin excretion rate (AER) and 45% retinopathy. Data linkage 8–13 years later showed 14 were deceased (3% of cohort), 57% male, median age 28.3 years (24.8–32.9). Acute or chronic diabetes complications accounted for 25% of deaths. In multivariable GEE, elevated AER (OR 4.54, 1.23–16.80, p=0.030), pupillary abnormality (OR 4.27, 1.20–15.22, p=0.023), systolic blood pressure SDS (OR 2.17, 1.26–3.74, p=0.005) and CAN (OR 4.65, 1.03–21.0, p=0.045) predicted mortality. HbA1c was not significant. SMR was 2.5 (1.4–4.2) and was higher in females (SMR 3.5, 1.3–7.8) but not in males (SMR 2.1, 0.9–4.0). Conclusion. Mortality in young adults with type 1 diabetes is predicted by subclinical markers of autonomic neuropathy and elevated AER during adolescence, but not glycemia. Mortality was over twice that of the background population in females but not in males.","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140709737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Lain, Lindsay Stevens, Maria E. Craig, Alicia J. Jenkins, Kirstine J. Bell, Alison Pryke, K. Donaghue, Natasha Nassar
{"title":"Excess Mortality in an Inception Cohort of Childhood Diabetes Diagnosed 1990–2010","authors":"S. Lain, Lindsay Stevens, Maria E. Craig, Alicia J. Jenkins, Kirstine J. Bell, Alison Pryke, K. Donaghue, Natasha Nassar","doi":"10.1155/2024/1844752","DOIUrl":"https://doi.org/10.1155/2024/1844752","url":null,"abstract":"Objective. Evaluate the mortality risk of childhood-onset type 1 diabetes compared to the general population. Research Design and Methods. The study population, identified from the Australasian Paediatric Endocrinology Group diabetes register, was diagnosed with type 1 diabetes at age < 16 in New South Wales (NSW), Australia, from 1990 to 2010. The register was linked to National Death Index registrations to ascertain timing and cause of death up to 31/12/2022. Risk factors for mortality were assessed using multivariable Cox regression models and observed mortality rate compared to “expected” rates in the Australian general population using indirect-standardized mortality ratios (SMR), overall and by sex and age at diagnosis. Diabetes-related cause of death categories were identified. Results. Of 5,417 children diagnosed with type 1 diabetes, 157 subsequently died, with all-cause mortality of 1.37/1,000 person years. Increased mortality risk was associated with living in most disadvantaged areas (aHR 1.81 (1.05, 3.11)) but not living in a rural area. Overall SMR was 2.83 (95% CI 2.40, 3.33) with females having higher SMR than males (4.18 vs. 2.19). Most common causes of death recorded were acute diabetes complications (26%), including diabetes ketoacidosis, accident/misadventure (21%), and chronic diabetes complications (15%). Alcohol and/or drug use contributed to 17% of deaths. Conclusion. Compared to the general population, higher risk of mortality in people with type 1 diabetes was associated with female sex and living in area of socioeconomic disadvantage. Education about minimizing risk-taking behaviors should be communicated to young adults with type 1 diabetes.","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140365255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Prevalence and Associated Factors of Impaired Fasting Glucose among Children and Adolescents in Urban China: A Large-Scale Cross-Sectional Study","authors":"Fenglian Huang, Zong Lin, Yeling Lu, Yueqin Zhou, Lewei Zhu, Xiaotong Wang, Yanna Zhu","doi":"10.1155/2024/6701192","DOIUrl":"https://doi.org/10.1155/2024/6701192","url":null,"abstract":"This study aimed to investigate the level of fasting plasma glucose (FPG), the prevalence of impaired fasting glucose (IFG), and the associated factors among children and adolescents in urban China. Based on a cross-sectional study conducted in three Chinese metropolises during 2013–2014, this analysis included 7,143 participants aged 7–18 years. Information on demographics, family environment, diet, and physical activity was collected by questionnaires. Anthropometric parameters and blood biochemical indicators were measured. Logistic regression models were applied to assess risk factors of glucose level. Results revealed that the average FPG level was 4.81 ± 0.53 mmol/L, and the prevalence of IFG was 3.3%. Trends of these two variables varied significantly with age increasing (all p<0.001), reaching double peaks at 10–12 and 15–17 years. IFG was positively associated with the male sex, age increasing, obesity, higher triglyceride (TG) levels, and living in northern China. When stratified by sex, family history of diabetes, elevated total cholesterol levels, and higher intake of sugar-sweetened beverages were positively associated with IFG only in females, suggesting these parameters were female-specific risk factors of IFG. We concluded that the prevalence of IFG among children and adolescents aged 7–18 years in urban China was higher than that reported in previous regional studies and was associated with obesity and higher levels of TG. Therefore, sex-specific lifestyle interventions should be provided to promote healthy weight and lipids and stem the upward trend of IFG.","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140240655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
T. Intemann, L. Bogl, M. Hunsberger, F. Lauria, S. De Henauw, Dénes Molnár, Luis A. Moreno, M. Tornaritis, T. Veidebaum, Wolfgang Ahrens, A. Hebestreit
{"title":"A Late Meal Timing Pattern Is Associated with Insulin Resistance in European Children and Adolescents","authors":"T. Intemann, L. Bogl, M. Hunsberger, F. Lauria, S. De Henauw, Dénes Molnár, Luis A. Moreno, M. Tornaritis, T. Veidebaum, Wolfgang Ahrens, A. Hebestreit","doi":"10.1155/2024/6623357","DOIUrl":"https://doi.org/10.1155/2024/6623357","url":null,"abstract":"Meal timing has been associated with metabolic markers in adults, but not in children or adolescents. The aim of this study was to investigate associations of meal timing patterns (MTPs) with insulin resistance (IR) and triglyceride levels in children and adolescents. In this cross-sectional study, we included 2,195 participants aged 8–15 years from the European I.Family study (2013/14). Habitual diet exposures were derived using 24-hr dietary recalls and HOMA-IR, HbA1c, and triglycerides were used as metabolic outcome variables. We applied k-means cluster analysis on five dietary exposures (energy proportion in the morning and evening, eating window, pre-sleep fasting and eating frequency), which revealed the following three MTPs: “early-often”, “late-long” and “late-infrequent-short”. We used linear mixed models to estimate the associations between MTPs and the z-scores of the metabolic outcome variables. The association analysis revealed differences between MTPs in HOMA-IR but not in HbA1c or triglyceride z-scores. The “late-infrequent-short” pattern was associated with a 0.19 (95%-CI: (0.01, 0.36)) higher HOMA-IR z-score compared to the “early-often” pattern in the model adjusted for age, BMI z-score, education, sex, country, and family membership. These findings suggest that the timing of meals may influence IR already in childhood and adolescence. Therefore, the time of meals should be considered in future nutrition research and dietary advice for children and adolescents.","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140087200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Type 1 Diabetes and Other Autoimmune Disorders in Children","authors":"E. Grasso, Francesco Chiarelli","doi":"10.1155/2024/5082064","DOIUrl":"https://doi.org/10.1155/2024/5082064","url":null,"abstract":"The incidence of autoimmune disorders (AIDs) has been dramatically increasing in both children and adults over the past few years, and type 1 diabetes (T1D) is one of the diseases that has seen the highest growth. It is well-known that the dysimmune process may spread to other systems, leading to the onset of one or more AIDs in the same individual; however, the relationship between AIDs is not often recognized. The most frequently diagnosed AIDs in children and adolescents with T1D are thyroid diseases and celiac disease, but it is also important to consider the onset of the other conditions, such as juvenile idiopathic arthritis, multiple sclerosis, atrophic gastritis, inflammatory bowel diseases, and skin disorders such as vitiligo and psoriasis. This review aims to explore the overlap of T1D and other AIDs, focusing on the less common and lesser-known diseases. A better knowledge of these comorbidities may facilitate the identification of patients at risk to treat them in the preclinical period, before the onset of complications.","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140429165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lauren M. Quinn, P. Narendran, Kirandeep Bhavra, F. Boardman, Sheila Greenfield, M. Randell, I. Litchfield
{"title":"Developing a General Population Screening Programme for Paediatric Type 1 Diabetes: Evidence from a Qualitative Study of the Perspectives and Attitudes of Parents","authors":"Lauren M. Quinn, P. Narendran, Kirandeep Bhavra, F. Boardman, Sheila Greenfield, M. Randell, I. Litchfield","doi":"10.1155/2024/9927027","DOIUrl":"https://doi.org/10.1155/2024/9927027","url":null,"abstract":"Introduction. With reliable tests and preventative treatments now available the United Kingdom has introduced a prototype population-based paediatric (ages 3–13) screening programme for type 1 diabetes (T1D). To aid its ethical and sustainable implementation this work explores parental views around the concept of this programme to determine how their involvement might be encouraged and supported. Research Design and Methods. Qualitative interviews were undertaken with 38 parents and the data were analysed using a purposely developed “Burden of Screening” framework, which presented the data within three domains describing the various elements of screening participation; pre-screening tasks designated to participants; factors influencing engagement with screening; and consequences of screening participation. Results. Regarding pre-screening tasks designated to participants, the importance of clear communication about the condition were apparent with parents expressing uncertainty of the benefits of screening against the potential anxiety engendered. In factors influencing their engagement with screening participants described their preference for less invasive testing techniques, the reassurance of structured support from healthcare professionals inherent within the programme, and the potential benefit of peer support. Regarding the consequences of screening participation parents described how a positive result might lead to overly protective behaviours, and anxiety from watching and waiting for the onset of symptomatic T1D. Conclusions. The benefits of T1D screening need to be clearly communicated to facilitate uptake. To this end the use of decision-support tools and better targeted educational materials should be explored. Post-testing, parents expressed preferences for peer support and access to psychological counselling.","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140446236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Samar S. Hassan, Salwa A. Musa, E. De Franco, Russel Donis Frew, Omer O. Babiker, Ghassan F. Mohamadsalih, Areej A. Ibrahim, Samar Abu Samra, Mohamed A. Abdullah
{"title":"Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan","authors":"Samar S. Hassan, Salwa A. Musa, E. De Franco, Russel Donis Frew, Omer O. Babiker, Ghassan F. Mohamadsalih, Areej A. Ibrahim, Samar Abu Samra, Mohamed A. Abdullah","doi":"10.1155/2024/2032425","DOIUrl":"https://doi.org/10.1155/2024/2032425","url":null,"abstract":"Neonatal diabetes (ND) is a rare subtype of diabetes occurring in the first 6 months of life. High incidence has been reported among populations with high rates of consanguineous marriage. However, there is paucity of reported data from sub-Saharan African countries. We report the incidence, genotype, and phenotype of ND in a large cohort from Sudan and compare these findings to regional and international data. All infants with onset of diabetes in the first 6 months of life, attending one of the only two tertiary pediatric diabetes centers in Sudan, Gaafar Ibn Auf Pediatric Tertiary Hospital and Sudan Childhood Diabetes Center, during the period of January 2006 to December 2022 were included. Medical records were reviewed for demographic and clinical information. Genetic testing was performed for 48 patients by the Exeter Genomics laboratory in the UK and for one patient by the University of Cambridge, Metabolic Research Laboratories, UK. The estimated incidence was 4.8 per 100,000 live births. Forty-nine ND patients from 45 unrelated families were identified, and a genetic diagnosis was confirmed in 37 patients (75.5%) from 33 unrelated families. Consanguinity was reported in 34 families (75.6%). The commonest genetic cause for permanent neonatal diabetes was EIF2AK3 recessive variants causing Wolcott–Rallison syndrome (18.92%). Pathogenic variants in two recently identified genes, ZNF808 and NARS2, were found in three patients each (8.11%). Activating variants in KCNJ11 and ABCC8 were identified in four (10.81%) and two (5.41%) patients, respectively. Apart from hyperglycemia, the commonest clinical presentations included dehydration, failure to thrive, and diabetic ketoacidosis. ND in Sudan has a different pattern of etiologies compared to Western and Asian populations yet similar to some Arab countries with EIF2AK3 mutations being the commonest cause. Pathogenic variants in recently identified genes reflect the impact of genome sequencing on increasing the rate of genetic diagnosis.","PeriodicalId":19797,"journal":{"name":"Pediatric Diabetes","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139776367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}