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OBJECTIVE: To investigate fear of hypoglycemia (FoH) in parents of children with type 1 diabetes (T1D) before and after undergoing training to learn intranasal (IN) glucagon administration. METHOD: In this pre-test/post-test uncontrolled study 364 caregivers of patients with T1D (6-18 years) completed questionnaires measuring sociodemographic characteristics, diabetes-related factors (e.g., type of insulin therapy, glycemic control), and parents' trait anxiety. Parents' FoH was assessed at baseline (T0, training) and after nine months (T1). Two repeated-measure mixed analyses of covariance (ANCOVA) compared the FoH at T0 and at T1 and analyzed the moderating roles of anxiety proneness and type of insulin therapy, as well as of anxiety proneness and use of sensor. Age, T1D duration, HbA1c values, and SES were included as covariates. RESULTS: Parental FoH at T1 (M = 1.72; SE = 0.06/M = 1.57; SE = 0.09) was significantly lower than parental FoH at T0 (M = 1.89; SE = 0.06/M = 1.77; SE = 0.09). The group with high trait-anxiety had a higher level of FoH (M = 2.05; SE = 0.08/M = 1.89; SE = 0.12) than the group with low trait-anxiety (M = 1.57; SE = 0.08/M = 1.46; SE = 0.09) at both time points. SES was negatively associated with FoH at T0 (t = -2.87; p = .004/t = -2.87; p = .005). No other significant effects were found. CONCLUSIONS: Training and educating parents on IN glucagon use can help them effectively manage hypoglycemic episodes and alleviate the fear that generally accompany such events.
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Administração Intranasal , Ansiedade , Diabetes Mellitus Tipo 1 , Medo , Glucagon , Hipoglicemia , Pais , Humanos , Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/psicologia , Hipoglicemia/induzido quimicamente , Masculino , Feminino , Pais/psicologia , Criança , Adolescente , Adulto , Inquéritos e Questionários , Pessoa de Meia-IdadeRESUMO
AIM: To provide guidance for follow-up and monitoring of children and adolescents identified as positive to islet autoantibodies (IA) in the general population screening for type 1 diabetes (T1D) in Italy. METHODS: Detection of IA helps to diagnose pre-symptomatic T1D, prevent diabetic ketoacidosis (DKA) and identify persons for new therapies to delay symptomatic diabetes. Italy recently became the first country to approve by law a general autoantibody screening program for T1D and celiac disease in all children and adolescents (age 1-17yr). A pilot study is currently underway in four Italian regions addressing feasibility issues to be used in the scale up to nationwide screening. Meanwhile, a group of experts developed guidance recommendations for follow-up and monitoring of identified IA positive persons. RESULTS: Ten key components have been identified: establishment of a registry for children and adolescents at risk; close collaboration with the national network of family paediatricians; creation of T1D centers with expertise in follow-up and monitoring; educational measures; assurance of solid IA tests; identification of appropriate metabolic tests; feed-back feasibility and acceptability questionnaires; potential access to available therapeutic interventions; valuable outcome measures including DKA incidence; costs monitoring. Distinctive features of this program include single (in addition to multiple) IA antibody-positive persons in follow-up and the use of CGM to assess risk progression, rather than the cumbersome OGTT. CONCLUSION: It is expected that the proposed follow-up and monitoring program will be effective, affordable and acceptable to children and families identified in general T1D screening in Italy.
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There has been continuous progress in diabetes management over the last few decades, not least due to the widespread dissemination of continuous glucose monitoring (CGM) and automated insulin delivery systems. These technological advances have radically changed the daily lives of people living with diabetes, improving the quality of life of both children and their families. Despite this, hypoglycemia remains the primary side-effect of insulin therapy. Based on a systematic review of the available scientific evidence, this paper aims to provide evidence-based recommendations for recognizing, risk stratifying, treating, and managing patients with hypoglycemia. The objective of these recommendations is to unify the behavior of pediatric diabetologists with respect to the timely recognition and prevention of hypoglycemic episodes and the correct treatment of hypoglycemia, especially in patients using CGM or advanced hybrid closed-loop systems. All authors have long experience in the specialty and are members of the Italian Society of Pediatric Endocrinology and Diabetology. The goal of treating hypoglycemia is to raise blood glucose above 70 mg/dL (3.9 mmol/L) and to prevent further decreases. Oral glucose at a dose of 0.3 g/kg (0.1 g/kg for children using "smart pumps" or hybrid closed loop systems in automated mode) is the preferred treatment for the conscious individual with blood glucose <70 mg/dL (3.9 mmol/L), although any form of carbohydrate (e.g., sucrose, which consists of glucose and fructose, or honey, sugary soft drinks, or fruit juice) containing glucose may be used. Using automatic insulin delivery systems, the oral glucose dose can be decreased to 0.1 g/kg. Practical flow charts are included to aid clinical decision-making. Although representing the official position of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED), these guidelines are applicable to the global audience and are especially pertinent in the era of CGM and other advanced technologies.
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Automonitorização da Glicemia , Hipoglicemia , Hipoglicemiantes , Insulina , Humanos , Hipoglicemia/prevenção & controle , Criança , Adolescente , Automonitorização da Glicemia/métodos , Insulina/administração & dosagem , Insulina/uso terapêutico , Hipoglicemiantes/uso terapêutico , Hipoglicemiantes/administração & dosagem , Glicemia/análise , Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 1/complicações , Sistemas de Infusão de Insulina , Medição de Risco , Guias de Prática Clínica como Assunto/normas , Gerenciamento ClínicoRESUMO
BACKGROUND: Skin reactions due to technological devices pose a significant concern in the management of type 1 diabetes (T1D). This multicentric, comparative cross-sectional study aimed to assess the psychological impact of device-related skin issues on youths with T1D and their parents. METHODS: Participants with skin reactions were matched in a 1:1 ratio with a control group. Diabetes-related emotional distress was evaluated using the Problem Areas in Diabetes-Teen version (PAID-T) for participants aged 11 to 19 years and the Problem Areas in Diabetes-Parent Revised version (PAID-PR) completed by parents. In addition, glucose control was assessed through glycated hemoglobin (HbA1c) values and continuous glucose monitoring (CGM) metrics. RESULTS: A total of 102 children and adolescents were consecutively recruited. Adolescents with skin issues had higher PAID-T scores compared to those without (79.6 ± 21.1 vs 62 ± 16.8; P = .004). Parents of youths with skin reactions also reported higher PAID-PR scores than the control group (34.0 ± 11.0 vs 26.9 ± 12.3; P = .015). No differences were observed in HbA1c levels (6.9 ± 0.8% vs 6.8 ± 0.8%, P = .555) or CGM glucose metrics between the two groups. Remarkably, 25.5% were forced to discontinue insulin pumps and/or glucose sensors (21.5% and 5.9%, respectively). CONCLUSIONS: Our study highlighted the increased emotional burden experienced by youths with T1D and their parents due to device-related skin reactions, emphasizing the need for further research and interventions in this crucial aspect of diabetes management.
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AIM: Conflicting findings have been reported on whether in youths, the double diagnosis of type 1 diabetes (T1D) and celiac disease (CD) substantially impacts quality of life QoL, compared to subjects with T1D only. METHODS: In this study, 86 youths with double diagnosis and their parents were compared to 167 subjects with T1D only. QoL was assessed through the KINDL questionnaire. Anti-tissue transglutaminase antibodies and dietary interviews evaluated the degree of maintaining a gluten-free diet (GFD). RESULTS: We found that having CD in addition to T1D has little effect on overall QoL. However, analysis of the degree of maintaining GFD revealed significantly lower total QoL scores in groups with T1D + CD not strictly maintaining GFD compared to T1D only (p = 0.0014). The multivariable linear regression model confirmed the importance of maintaining GFD on QoL in subjects (p = 0.0066) and parents (p = 0.023). CONCLUSION: The coexistence of T1D and CD and the adoption of a GFD resulted in poor QoL levels, as in youth as in their parents, when difficulties implementing the GFD are present. Psychological support should consider the importance of maintaining GFD not only to prevent potential complications in the future but also to improve actual QoL in different subdomains.
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Doença Celíaca , Diabetes Mellitus Tipo 1 , Dieta Livre de Glúten , Qualidade de Vida , Humanos , Doença Celíaca/dietoterapia , Doença Celíaca/psicologia , Diabetes Mellitus Tipo 1/psicologia , Diabetes Mellitus Tipo 1/dietoterapia , Dieta Livre de Glúten/psicologia , Masculino , Feminino , Adolescente , Criança , Inquéritos e Questionários , Estudos TransversaisRESUMO
CONTEXT: In the last decade the Sanger method of DNA sequencing has been replaced by next-generation sequencing (NGS). NGS is valuable in conditions characterized by high genetic heterogeneity such as neonatal diabetes mellitus (NDM). OBJECTIVE: To compare results of genetic analysis of patients with NDM and congenital severe insulin resistance (c.SIR) identified in Italy in 2003-2012 (Sanger) vs 2013-2022 (NGS). METHODS: We reviewed clinical and genetic records of 104 cases with diabetes onset before 6 months of age (NDM + c.SIR) of the Italian dataset. RESULTS: Fifty-five patients (50 NDM + 5 c.SIR) were identified during 2003-2012 and 49 (46 NDM + 3 c.SIR) in 2013-2022. Twenty-year incidence was 1:103 340 (NDM) and 1:1 240 082 (c.SIR) live births. Frequent NDM/c.SIR genetic defects (KCNJ11, INS, ABCC8, 6q24, INSR) were detected in 41 and 34 probands during 2003-2012 and 2013-2022, respectively. We identified a pathogenic variant in rare genes in a single proband (GATA4) (1/42 or 2.4%) during 2003-2012 and in 8 infants (RFX6, PDX1, GATA6, HNF1B, FOXP3, IL2RA, LRBA, BSCL2) during 2013-2022 (8/42 or 19%, P = .034 vs 2003-2012). Notably, among rare genes 5 were recessive. Swift and accurate genetic diagnosis led to appropriate treatment: patients with autoimmune NDM (FOXP3, IL2RA, LRBA) were subjected to bone marrow transplant; patients with pancreas agenesis/hypoplasia (RFX6, PDX1) were supplemented with pancreatic enzymes, and the individual with lipodystrophy caused by BSCL2 was started on metreleptin. CONCLUSION: NGS substantially improved diagnosis and precision therapy of monogenic forms of neonatal diabetes and c.SIR in Italy.
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Diabetes Mellitus , Humanos , Itália/epidemiologia , Recém-Nascido , Masculino , Feminino , Lactente , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/genética , Sequenciamento de Nucleotídeos em Larga Escala , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/genética , Testes Genéticos/métodos , Resistência à Insulina/genética , Mutação , Incidência , Estudos RetrospectivosRESUMO
AIMS: While continuous glucose monitoring (CGM) and associated technologies have positive effects on metabolic control in young people with type 1 diabetes (T1D), less is known about their impact on quality of life (QoL). Here, we quantified CGM satisfaction and QoL in young people with T1D and their parents/caregivers to establish (i) the relationship between QoL and CGM satisfaction and (ii) the impact of the treatment regimen on QoL. METHODS: This was a cross-sectional study of children and adolescents with T1D on different treatment regimens (multiple daily injections, sensor-augmented pumps and automated insulin delivery). QoL was assessed with the KINDL instrument, and CGM satisfaction with the CGM-SAT questionnaire was evaluated in both youths with T1D and their parents. RESULTS: Two hundred and ten consecutively enrolled youths with T1D completed the KINDL and CGM-SAT questionnaires. The mean total KINDL score was greater than neutral in both subjects with T1D (3.99 ± 0.47) and parents (4.06 ± 0.40), and lower overall CGM-SAT scores (i.e., higher satisfaction) were significantly associated with higher QoL in all six KINDL subscales (p < 0.05). There were no differences in KINDL scores according to delivery technology or when participants were grouped according to optimal and sub-optimal glucose control. CONCLUSIONS: Higher satisfaction with recent CGMs was associated with better QoL in all dimensions. QoL was independent of both the insulin delivery technology and glycaemic control. CGM must be further disseminated. Attention on perceived satisfaction with CGM should be incorporated with the clinical practice to improve the well-being of children and adolescents with T1D and their families.
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Automonitorização da Glicemia , Diabetes Mellitus Tipo 1 , Hipoglicemiantes , Sistemas de Infusão de Insulina , Insulina , Satisfação do Paciente , Qualidade de Vida , Humanos , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/psicologia , Diabetes Mellitus Tipo 1/tratamento farmacológico , Adolescente , Masculino , Feminino , Criança , Estudos Transversais , Insulina/uso terapêutico , Insulina/administração & dosagem , Hipoglicemiantes/uso terapêutico , Controle Glicêmico , Glicemia/metabolismo , Glicemia/análise , Inquéritos e Questionários , Pais/psicologia , Hemoglobinas Glicadas/metabolismo , Hemoglobinas Glicadas/análise , Monitoramento Contínuo da GlicoseRESUMO
AIMS: Gluten-free diets (GFD) were considered as high glycemic index and/or high content of saturated fats; this could affect keeping good metabolic control in individuals with both type 1 diabetes (T1D) and celiac disease (CD). Our objective was to analyze time in range and other continuous glucose monitoring (CGM) metrics with real-time CGM systems, in youths with T1D and CD, compared to those with T1D only. METHODS: An observational case-control study, comparing youths aged 8-18 years with T1D and CD, with people with T1D only was performed. The degree of maintaining GFD was assessed through anti-tissue transglutaminase antibodies and dietary interview, and maintaining Mediterranean diet through the KIDMED questionnaire. RESULTS: 86 youths with T1D and CD, 167 controls with T1D only, were included in the study and the two groups reported similar real-time CGM metrics. Among the first group, 29 % were not completely maintaining GFD and compared to people with T1D only they showed higher hyperglycemia rates (% time above range: 38.72 ± 20.94 vs 34.34 ± 20.94; P = 0.039). CONCLUSIONS: Individuals with T1D and CD who maintain GFD presented similar glucose metrics compared to youths with T1D only. Individuals not strictly maintaining GFD presented higher hyperglycemia rates.
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Doença Celíaca , Diabetes Mellitus Tipo 1 , Hiperglicemia , Humanos , Adolescente , Dieta Livre de Glúten , Estudos de Casos e Controles , Glicemia , Automonitorização da Glicemia , Hiperglicemia/prevenção & controleRESUMO
INTRODUCTION: Reducing cardiovascular risk factors (CVRFs) exposure in children and youths with type 1 diabetes (T1D) is critical for cardiovascular diseases (CVD) prevention. Long-term exposure to hyperglycaemia, measured by HbA1c, had been recognized as the main factor affecting CVRFs profile. To date, the possible association between short-term glycaemic control and variability measured by continuous glucose monitoring (CGM) metrics and CVRFs has not been explored. The aim of this study was to test the hypothesis that CGM metrics independently contribute to CVRFs exposure in children and youths with T1D. METHOD: BMI, blood pressure (BP), lipid profile, and CGM data of 895 children and youths with T1D were analysed. Binary multivariable logistic regression analyses were performed to test independent associations between CVRFs (BMI percentile>85th, LDL-c>100 mg/dL, BP>90th percentile) and CGM metrics according to sex and adjusting for confounding factors. RESULTS: In both sexes, metrics of hypoglycaemia and glycaemic variability (coefficient of variation [%CV]) positively correlated with BMI percentile. LDL-c positively correlated with mean glucose and metrics of hyperglycaemia. A negative correlation was found between LDL-c and time in range (TIR). No significant correlations were found between CGM metrics and BP percentiles. In both sexes, TIR<70% was significantly associated with LDL-c>100 mg/dL (OR 3.2 in males, 2.1 in females). In females, CV>36% was significantly associated with overweight (OR 2.1). CONCLUSIONS: CGM metrics of glycaemic control and variability were significantly associated with the risk of overweight in females and high LDL-c in both sexes.
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AIMS: Continuous glucose monitoring (CGM) can improve glucometrics in children with type 1 diabetes (T1D), and its efficacy is positively related to glucose sensor use for at least 60% of the time. We therefore investigated the relationship between CGM satisfaction as assessed by a robust questionnaire and glucose control in pediatric T1D patients. METHODS: This was a cross-sectional study of children and adolescents with T1D using CGM. The CGM Satisfaction (CGM-SAT) questionnaire was administered to patients and demographic, clinical, and glucometrics data were recorded. RESULTS: Two hundred and ten consecutively enrolled patients attending 14 Italian pediatric diabetes clinics completed the CGM-SAT questionnaire. CGM-SAT scores were not associated with age, gender, annual HbA1c, % of time with an active sensor, time above range (TAR), time below range (TBR), and coefficient of variation (CV). However, CGM satisfaction was positively correlated with time in range (TIR, p < 0.05) and negatively correlated with glycemia risk index (GRI, p < 0.05). CONCLUSIONS: CGM seems to have a positive effect on glucose control in patients with T1D. CGM satisfaction is therefore an important patient-reported outcome to assess and it is associated with increased TIR and reduced GRI.
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Diabetes Mellitus Tipo 1 , Adolescente , Humanos , Criança , Diabetes Mellitus Tipo 1/tratamento farmacológico , Glicemia , Automonitorização da Glicemia , Estudos Transversais , Inquéritos e Questionários , HipoglicemiantesRESUMO
Insulin receptor gene (INSR) mutations are a relatively rare and diverse cause of insulin resistance (IR), typically associated with a lean phenotype. However, we present a unique case of severe obesity and Type A severe IR syndrome in a patient with a heterozygous mutation of the INSR gene. Next Generation Sequencing (NGS) analysis was conducted to identify the genetic variant. A 16-year-old girl with severe obesity (BMI-SDS +2.79) exhibited markedly elevated basal insulin levels (>800 mcU/L). Despite obesity being a known cause of hyperinsulinism, further investigation was pursued due to the severity of hyperinsulinaemia. A heterozygous nucleotide variant at the donor splicing site of intron 13 (c.2682 + 1G > A) of the INSR gene was identified. This mutation was also present in the proband's normal-weight mother and her two younger brothers with obesity. Metformin treatment provided limited benefits, but subsequent liraglutide therapy resulted in weight loss and decreased IR 3 months after initiation. Our findings suggest that obesity can exacerbate hyperinsulinaemia in individuals with an INSR gene mutation. Although INSR signalling defects play a minor role in the aetiology of IR, they should still be considered in the diagnostic pathway, particularly in severe phenotypes. Clinicians should not overlook the possibility of genetic causes in patients with obesity and IR, as they may require personalized management approaches.
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Diabetes Mellitus , Hiperinsulinismo , Resistência à Insulina , Obesidade Mórbida , Adolescente , Feminino , Humanos , Masculino , Hiperinsulinismo/complicações , Hiperinsulinismo/genética , Resistência à Insulina/genética , Mutação , Obesidade/complicações , Obesidade/genética , Receptor de Insulina/genética , Receptor de Insulina/metabolismoRESUMO
This Position Statement updates the different components of the therapy of obesity (lifestyle intervention, drugs, and surgery) in children and adolescents, previously reported in the consensus position statement on pediatric obesity of the Italian Society of Pediatric Endocrinology and Diabetology and the Italian Society of Pediatrics. Lifestyle intervention is the first step of treatment. In children older than 12 years, pharmacotherapy is the second step, and bariatric surgery is the third one, in selected cases. Novelties are available in the field of the medical treatment of obesity. In particular, new drugs demonstrated their efficacy and safety and have been approved in adolescents. Moreover, several randomized control trials with other drugs are in process and it is likely that some of them will become available in the future. The increase of the portfolio of treatment options for obesity in children and adolescents is promising for a more effective treatment of this disorder.
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Obesidade Infantil , Pediatria , Criança , Humanos , Adolescente , Obesidade Infantil/cirurgia , Consenso , Sociedades Médicas , ItáliaRESUMO
Glycemia risk index (GRI) is a novel composite metric for the evaluation of the safety of glycemic management and control. The aim of this study was to evaluate GRI and its correlations with continuous glucose monitoring (CGM) metrics by analyzing real-life CGM data in 1067 children/adolescents with type 1 diabetes (T1D) using four different treatment strategies (intermittently scanned CGM [isCGM]-multiple daily injections [MDIs]; real-time CGM-MDIs; rtCGM-insulin pump; hybrid closed-loop [HCL] therapy). GRI was positively correlated with high blood glucose index, low blood glucose index, mean glycemia, its standard deviation, coefficient of variation, and HbA1c. The four treatment strategy groups showed significantly different GRI with the lowest value in the HCL group (30.8) and the highest in the isCGM-MDIs group (68.4). These findings support the use of GRI for the assessment of the glycemic risk and the safety of specific treatment in pediatric subjects with T1D.
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Diabetes Mellitus Tipo 1 , Criança , Humanos , Adolescente , Diabetes Mellitus Tipo 1/tratamento farmacológico , Glicemia , Hipoglicemiantes/efeitos adversos , Estudos de Coortes , Automonitorização da Glicemia , Controle Glicêmico , InsulinaRESUMO
OBJECTIVE: A comprehensive picture of the data on the impact of COVID-19 on the mental health of individuals with type 1 diabetes (T1D) is currently lacking. The purpose of this systematic review was to synthesize extant literature reporting on the effects of COVID-19 on psychological outcomes in individuals with T1D and to identify associated factors. METHODS: A systematic search was conducted with PubMed, Scopus, PychInfo, PsycArticles, ProQuest, and WoS using a selection procedure according to the PRISMA methodology. Study quality was assessed using a modified Newcastle-Ottawa Scale. In all, 44 studies fulfilling the eligibility criteria were included. RESULTS: Findings suggest that during the COVID-19 pandemic, people with T1D had impaired mental health, with relatively high rates of symptoms of depression (11.5-60.7%, n = 13 studies), anxiety (7-27.5%, n = 16 studies), and distress (14-86.6%, n = 21 studies). Factors associated with psychological problems include female gender, lower income, poorer diabetes control, difficulties in diabetes self-care behaviors, and complications. Of the 44 studies, 22 were of low methodological quality. CONCLUSIONS: Taking appropriate measures to improve medical and psychological services is needed to support individuals with T1D in appropriately coping with the burden and difficulties caused by the COVID-19 pandemic and to prevent mental health problems from enduring, worsening, or having a long-term impact on physical health outcomes. Heterogeneity in measurement methods, lack of longitudinal data, the fact that most included studies did not aim to make a specific diagnosis of mental disorders limit the generalizability of the findings and have implications for practice.
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COVID-19 , Diabetes Mellitus Tipo 1 , Feminino , Humanos , COVID-19/epidemiologia , Diabetes Mellitus Tipo 1/epidemiologia , Pandemias , Ansiedade/epidemiologia , Ansiedade/psicologia , Saúde Mental , Depressão/psicologiaRESUMO
OBJECTIVE: The aim of this study was to report nationwide data of the prevalence of disordered eating behaviors (DEBs) in adolescents with type 1 diabetes (T1D) and to evaluate a multidimensional model of eating problems, analyzing how psychopathological problems are associated with DEBs and with metabolic control. METHODS: This study was carried out using a cross-sectional design with a sample of 1,562 patients with T1D (812 male), aged 11-19 years. Participants were recruited from multiple pediatric diabetes centers (N = 30) located in northern, central, and southern Italy, and they individually completed the Diabetes Eating Problem Survey-Revised (DEPS-r) and the Youth Self-Report (YSR). Sociodemographic and clinical data were also gathered. Multiple-group structural equation modeling was used to investigate the relationships between internalizing/externalizing symptoms, DEBs, and glycosylated hemoglobin (HbA1c) values. RESULTS: A total of 29.7% of the participants reported DEBs (DEPS-r scores ≥20), 42.4% reported insulin manipulation (IM). The prevalence of DEBs was higher for female participants (p ≤ .001). The model explains 37% of the variance in disordered eating, 12% in IM, and 21% in HbA1c values. Body mass index, externalizing symptoms, and internalizing symptoms were significantly and positively associated with DEBs, which in turn were significantly and positively associated with HbA1c values (all p ≤ .001). Externalizing (p ≤ .001) and internalizing (p ≤ .01) symptoms were also directly associated with HbA1c values. CONCLUSION: Given the relevant prevalence of DEBs, their significant positive association with psychopathological symptoms, and their relationship with worse diabetes outcomes, regular psychological screening and support is needed to ensure the best care of adolescents with T1D.
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Diabetes Mellitus Tipo 1 , Transtornos da Alimentação e da Ingestão de Alimentos , Criança , Humanos , Masculino , Feminino , Adolescente , Diabetes Mellitus Tipo 1/psicologia , Hemoglobinas Glicadas , Prevalência , Estudos Transversais , Transtornos da Alimentação e da Ingestão de Alimentos/epidemiologia , Transtornos da Alimentação e da Ingestão de Alimentos/complicações , InsulinaRESUMO
In the frame of metabolic syndrome, type 2 diabetes emerges along a continuum of the risk from the clustering of all its components, namely visceral obesity, high blood pressure and lipids, and impaired glucose homeostasis. Insulin resistance is the hallmark common to all the components and, in theory, is a reversible condition. Nevertheless, the load that this condition can exert on the ß-cell function at the pubertal transition is such as to determine its rapid and irreversible deterioration leading to plain diabetes. The aim of this review is to highlight, in the context of metabolic syndrome, age-specific risk factors that lead to type 2 diabetes onset in youth; resume age specific screening and diagnostic criteria; and anticipate potential for treatment. Visceral obesity and altered lipid metabolism are robust grounds for the development of the disease. Genetic differences in susceptibility to hampered ß-cell function in the setting of obesity and insulin resistance largely explain why some adolescents with obesity do develop diabetes at a young age and some others do not. Lifestyle intervention with a healthy diet and physical activity remains the pillar of the type 2 diabetes treatment in youth. As to the pharmacological management, metformin and insulin have failed to rescue ß-cell function and to ensure long-lasting glycemic control in youth. A new era might start with the approval for use in pediatric age of drugs largely prescribed in adults, such as dipeptidyl peptidase-4 and sodium-dependent glucose transport inhibitors, and of new weight-lowering drugs in the pipeline such as single and multiple agonists of the glucagon-like peptide 1 receptor. The latter drugs can have tremendous impact on the natural history of the disease. By treating diabetes, they will reduce the burden of all the metabolic abnormalities belonging to the syndrome while causing a tremendous weight loss hitherto never seen before.
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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.