The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy

Abstract In pediatric diabetology, a precise diagnosis is very important because it allows early and correct clinical management of the patient. Monogenic diabetes (MD), which accounts for 1–6% of all pediatric–adolescent diabetes cases, is the most relevant example of precision medicine. The definitive diagnosis of MD, possible only by genetic testing, allows us to direct patients to more appropriate therapy in relation to the identified mutation. In some cases, MD patients can avoid insulin and be treated with oral hypoglycemic drugs with a perceptible impact on both the quality of life and the healthcare costs. However, the genetic and phenotypic heterogeneity of MD and the overlapping clinical characteristics between different forms, can complicate the diagnostic process. In recent years, the development of Next-Generation Sequencing (NGS) methodology, which allows the simultaneous analysis of multiple genes, has revolutionized molecular diagnostics, becoming the cornerstone of MD precision diagnosis. We report two cases of patients with clinical suspects of MD in which a genetic test was carried out, using a NGS multigenic panel, and it clarified the correct pathogenesis of diabetes, allowing us to better manage the disease both in probands and other affected family members

Failure of glycated hemoglobin drop after continuous subcutaneous insulin infusion initiation may indicate patients who discontinue: a 4-year follow-up study in children and adolescents with type 1 diabetes

Abstract Continuous subcutaneous insulin infusion (CSII) is effective and safe in children and adults with type 1 diabetes. Notwithstanding, some patients decide to discontinue using CSII. We evaluated the discontinuation rate, and its related factors, in a large group of children and adolescents with type 1 diabetes using CSII in Italy. Data on all patients with type 1 diabetes younger than 18 years were collected by 28 Pediatric Diabetologic referral Centers located throughout Italy. The primary endpoint was to measure the discontinuation rate using CSII. Among the study population (n = 6,644), 985 (14.8%) were using CSII. Sixty patients discontinued using CSII, representing the 6.1%. The discontinuation rate significantly increased (P = 0.002) with age: 0-6 years, 1/84 (1.2%), 7-11 years, 8/262 (3.1%), 12-18 years, 51/579 (8.8%). The average time to discontinuation was 1.8 ± 1.4 years. The average age of patients who discontinued using CSII was higher than in patients still on CSII (12.1 ± 3.2 vs. 10.3 ± 3.8, P = 0.0001), while their diabetes duration was significantly shorter (8.6 ± 2.7 vs. 10.2 ± 3.7, P = 0.0001). HbA1c decreased only in patients still on CSII (8.7 ± 1.3% vs. 7.8 ± 1.3%, P = 0.02), but not in patients who discontinued using CSII (8.5 ± 1.6% vs. 8.2 ± 1.3%, P = 0.213). HbA1c might be one important indicator helpful to identify patients at higher risk discontinuing using CSII.Continuous subcutaneous insulin infusion (CSII) is effective and safe in children and adults with type 1 diabetes. Notwithstanding, some patients decide to discontinue using CSII. We evaluated the discontinuation rate, and its related factors, in a large group of children and adolescents with type 1 diabetes using CSII in Italy. Data on all patients with type 1 diabetes younger than 18 years were collected by 28 Pediatric Diabetologic referral Centers located throughout Italy. The primary endpoint was to measure the discontinuation rate using CSII. Among the study population (n = 6,644), 985 (14.8%) were using CSII. Sixty patients discontinued using CSII, representing the 6.1%. The discontinuation rate significantly increased (P = 0.002) with age: 0-6 years, 1/84 (1.2%), 7-11 years, 8/262 (3.1%), 12-18 years, 51/579 (8.8%). The average time to discontinuation was 1.8 ± 1.4 years. The average age of patients who discontinued using CSII was higher than in patients still on CSII (12.1 ± 3.2 vs. 10.3 ± 3.8, P = 0.0001), while their diabetes duration was significantly shorter (8.6 ± 2.7 vs. 10.2 ± 3.7, P = 0.0001). HbA1c decreased only in patients still on CSII (8.7 ± 1.3% vs. 7.8 ± 1.3%, P = 0.02), but not in patients who discontinued using CSII (8.5 ± 1.6% vs. 8.2 ± 1.3%, P = 0.213). HbA1c might be one important indicator helpful to identify patients at higher risk discontinuing using CSII. © 2011 Springer-Verlag

Accuracy of a CGM Sensor in Pediatric Subjects With Type 1 Diabetes. Comparison of Three Insertion Sites: Arm, Abdomen, and Gluteus

Patients with diabetes, especially pediatric ones, sometimes use continuous glucose monitoring (CGM) sensor in different positions from the approved ones. Here we compare the accuracy of Dexcom\uae G5 CGM sensor in three different sites: abdomen, gluteus (both approved) and arm (off-label)

Psychological Outcomes in Children and Early Adolescents With Type 1 Diabetes Following Pediatric Diabetes Summer Camp: A 3-Month Follow-Up Study

Objective: The aim of this study was to assess general psychosocial adjustment to diabetes and perceived disease management among patients with type 1 diabetes (T1D) and their parents before and after patients' participation in a diabetes summer camp. Methods: In this follow-up study, 20 children and adolescents with T1D (eight boys; mean age = 11.01 ± 0.94 years; mean diabetes duration = 3.02 ± 2.27) attending a southern Italian diabetic center, along with their parents, were assessed prior to and 3 months after the youths participated in a 1 week camp-based intervention involving didactic and interactive child-centered education and recreational activities. Patients and their parents completed measures assessing patients' quality of life and strategies employed by patients to cope with pain. Patients also completed measures evaluating their diabetes psychosocial adjustment, diabetes self-efficacy management, and illness perception; also, their parents completed measures of caregivers' perceived diabetes burden and treatment satisfaction. Youths' glycated hemoglobin (HbA1c) and standardized body mass index (z-BMI) values were also assessed. Within-subjects repeated-measures analyses of variance evaluated pre- and post-camp changes. Results: Camp attendance showed no beneficial effects on glycemic control, as indicated by HbA1c values both before (7.02%) and after (7.28%) camp being lower than 7.5%. HbA1c values were found to have increased after camp (pre-camp = 7.02%, post-camp = 7.28%; p = 0.010), but since they still fell within an acceptable range, they did not reveal clinically relevant changes in glycemic control. No substantial significant improvement in psychosocial measures was observed in children or parents (all p > 0.05). According to the parents' evaluation, social support-seeking as a patient pain-coping strategy was slightly increased (p = 0.044) after attending the camp. Conclusions: This study does not provide empirical evidence of benefits of participating in a diabetes camp for either patients or their parents. These findings suggest that healthcare providers rethink such camps as an experience for youths with T1D that actively involves parents and that includes both youth- and parent-focused psychological interventions

PediaVirus chatline: all together against COVID-19

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Body Image Problems in Individuals with Type 1 Diabetes: A Review of the Literature

Despite type 1 diabetes' (T1D) potential influence on adolescents' physical development, the occurrence of body image problems of adolescents with diabetes remains unclear. No research synthesis has yet addressed this issue. This study aims to systematically evaluate the empirical evidence concerning body image in individuals with T1D in order to provide an overview of the existing literature. Using PRISMA methodology, 51 relevant studies that fulfilled the eligibility criteria were found, the majority of them (N = 48) involving youth. The findings varied across studies: 17 studies indicated that in youth with T1D, body dissatisfaction was common and that body concerns were generally greater in youth with T1D than in controls; nine studies did not find any differences in body image problems between participants with and without T1D; three studies described higher body satisfaction in youth with diabetes than in controls; and three studies reported mixed results. Body concerns in individuals with T1D were often found to be associated with negative medical and psychological functioning. The variability and limits in assessment tools across studies, the overrepresentation of female subjects, and the fact that most research in this field is based on cross-sectional data are stressed in the interpretation of these mixed findings. Future research directions that could improve the understanding of body image concerns and clinical implications are discussed

Children and youth with diabetes are not at increased risk for hospitalization due to COVID-19

The severe acute respiratory syndrome coronavirus 2 (SARS-Cov-2), responsible for the coronavirus disease COVID-19, was first identified in Wuhan, China in December 2019. Diabetes, as well as other cardiovascular comorbidities, has been recognized as a major risk factor for outcomes and mortality in adults with COVID-19, particularly in the elderly with type 2 diabetes. Based on these conclusions, COVID-19 data on adults have been generalized to youth with diabetes. Nevertheless, experience from pediatric diabetes practices in China (Wuhan), Italy, Spain (Catalonia), and the United States (San Francisco Bay Area) consistently report only a single severe case of COVID-19 in a 20-year-old female youth with type 1 diabetes (T1D) that was hospitalized for bilateral pneumonia and was subsequently discharged without complications. In Italy, information on COVID-19 in all children with diabetes is collected on a weekly basis and those with positive swab test or infection-related symptoms reported to a dedicated national registry. Of a total of 15 500 children tested, 11 subjects with T1D (age 8-17y) tested positive for COVID-19; 6/11 were asymptomatic and the rest presented with mild symptoms. In the rest of locations, youths with T1D diagnosed with COVID-19 were based on clinical suspicion and a confirmatory PCR test (Wuhan:0; Catalonia-HSJD:3; California-Stanford:2). All of them were asymptomatic or had a mild course. We suggest that COVID-19 data from adults should not be generalized to children, adolescents, and youth with diabetes as their outcomes and prognosis seem to be similar to their non-diabetic-peers and consistently milder than adults with diabetes