Hormone Research in Paediatrics最新文献

Introduction: Caring for youth with type 1 diabetes (T1D) can be challenging for caregivers. Diabetes technology can improve glycemic outcomes and reduce the burden for youth with T1D. Little is known about the emotional challenges caregivers experience in relation to each step of the diabetes technology journey. Using qualitative methods, this study aimed to understand the emotional barriers caregivers encounter along the diabetes technology journey and to explore caregivers' attitudes toward diabetes technology, diabetes burden, and diabetes-specific family conflict using patient-reported outcomes surveys.

Methods: Nine virtual workshops were held with caregivers of Black and Hispanic/Latino youth aged 2-17 years old with T1D managed with diabetes technology to elicit emotional barriers to the use of diabetes technology. All sessions were recorded and analyzed using an inductive approach. Caregivers also completed validated surveys regarding diabetes technology attitude, diabetes burden, and updated diabetes-specific family conflict.

Results: Emotional challenges with each step of the diabetes journey included: 1) mistrust of the device leading to fear, 2) anxiety related to possible device malfunctions, and 3) frustration with device visibility and diabetes technology troubleshooting. Most caregivers (88%) reported low diabetes burden, positive attitude towards diabetes technology (95% CI [17.6-20.2]), and low diabetes-specific family conflict (95% CI [15.2-39.5]).

Conclusion: This study identified key emotional barriers caregivers face during the diabetes technology journey for youth with T1D. Proactively addressing emotional barriers to the adoption and use of diabetes technology may ultimately lead to greater adoption and use.

Introduction: Obesity in childhood and adolescence is a significant public health issue, associated with increased morbidity, mortality, and healthcare costs. The search for effective strategies to combat obesity has spurred the development of e-health technologies, which objectively record behavioral data and correlate them with factors that increase body mass index (BMI). The aim of our study was to assess the dietary habits of children and adolescents with overweight and obesity in Greece.

Methods: Eight hundred eighty (n = 880) children and adolescents (mean age ± SD: 12.226 ± 1.972 years, 453 males, 427 females) participated in the study prospectively. Based on BMI, subjects were classified as having obesity (n = 658, 74.8%) and overweight (n = 222, 25.2%) according to the International Obesity Task Force (IOTF) cut-off points. Participants' medical history and anthropometric data were collected, and caregivers completed the self-administered ToyBox food frequency questionnaire.

Results: Boys were more likely to have obesity (78.4% vs. 71%, p=0.011) and girls were more likely to be overweight (29% vs. 21.6%, p=0.011). The consumption of cereal without added sugar was higher across both BMI categories than the consumption of cereal with added sugar (p=0.016). In both groups, the majority of participants consumed more than 115g of meat and poultry (p=0.019) with an increased frequency of 2-4 times per week (p=0.034). Boys consumed more water, light beverages, vegetables, meat, fried potatoes and chocolate spread than girls (p<0.05).

Conclusions: These findings provide information on the dietary habits of children with overweight and obesity in our country, and may help develop guidelines for the prevention and treatment of childhood obesity.

Increasingly children and adolescents are being identified in early-stage type 1 diabetes (T1D), defined as two or more islet autoantibodies without hyperglycemia (above diagnostic threshold) or reliance on intensive insulin therapy. They require clinical monitoring and care. Healthy lifestyle education is recommended in guidelines, however evidence synthesis to inform clinical practice is lacking. Therefore, this review summarizes current evidence on nutrition, lifestyle to delay progression to stage 3 T1D; and proposes lifestyle strategies for children and adolescents with early-stage T1D. Specifically, we suggest a key focus on reducing beta-cell stress, promoting a healthy gut microbiome and establishing healthy lifestyles and relationships with food, prior to the introduction of intensive insulin therapy. As secondary prevention of T1D is an emerging research area and randomized controlled trials are scarce, evidence has been largely drawn from prospective cohort studies and routine clinical care for stage 3 T1D. A balanced and varied diet, limiting intake of foods containing high amounts of saturated fat and added sugar, and moderate levels of physical activity, are likely beneficial for overall health in children and adolescents with early-stage T1D. Low glycemic index (GI) diets may be protective against progression to stage 3 T1D.

Background: Turner syndrome (TS) is a complex genetic condition requiring lifelong, multidisciplinary care. International consensus guidelines exist, but the organisation of paediatric TS services in the UK has not been systematically explored.

Methods: A structured electronic survey was distributed to paediatric endocrinology centres across the UK with responses collected from June 2023 to February 2024. The survey collected information on service configuration, staffing, multidisciplinary team (MDT) composition, transition pathways, use of consensus guidelines, and engagement with patient registries and support societies.

Results: Responses were received from 20 UK tertiary centres. Six out of 20 centres operated a dedicated TS clinic. MDTs were limited in most centres to paediatric endocrine consultants and nurse specialists, and shared care models for outreach patients were common. Transition practices varied, with 45% of centres using TS-specific pathways, 45% using general endocrine transition pathways, and 10% without a transition pathway. Awareness of international TS guidelines, the Turner Syndrome Support Society, and the i-TS registry was high, but active engagement varied.

Conclusion: Significant variability exists in UK paediatric TS service models. Centres without dedicated clinics were generally smaller with fewer patients. Geographic challenges may exacerbate inequalities for outreach patients. While some centres offer best practice examples, improvements in MDT availability, transition planning, and registry engagement are needed to align more closely with international care recommendations.

Introduction: The ACHieve study assessed growth velocity, body proportionality, and clinical events in children with achondroplasia not receiving growth-promoting therapy.

Methods: ACHieve was a global, longitudinal, prospective, observational study. Children ≤8 years old with achondroplasia were enrolled and evaluated every 6 months for anthropometric parameters and clinical events.

Results: ACHieve enrolled 259 children in 15 countries, including 83 from China. Median follow-up was 21 months; median age of diagnosis was approximately 52 weeks in China and 2 weeks elsewhere. Growth parameters were similar regardless of region. Mean annualized growth velocity (AGV) was 9.3 cm/year for males and 10.4 cm/year for females at age 1 and decreased to 4.1 cm/year and 4.6 cm/year, respectively, at age 4. Upper-to-lower-body segment ratio was generally consistent across regions. Overall, 77.2% of participants experienced clinical events, 34.0% of which were considered related to achondroplasia. Two deaths occurred (one accident and one cardiac arrest of unknown origin).

Conclusion: ACHieve was one of the largest longitudinal natural history studies of achondroplasia to date and included the largest prospective Chinese achondroplasia cohort. The results demonstrated common trajectories in growth parameters regardless of region, indicating the generalizability of findings.

Introduction: Children with type 1 diabetes mellitus (T1D) have an increased risk of developing celiac disease (CeD), and those with comorbid conditions face increased healthcare demands. This study assessed celiac serology diagnostic performance and CeD follow-up rates in children with T1D and CeD.

Methods: Single-center retrospective review of children (≤18 years) diagnosed with T1D between 2000 and 2021. Controls included children with CeD without T1D, matched on age and gender at tissue transglutaminase (TTG) IgA positivity. Screening for CeD was done following T1D diagnosis. AUC-ROC was used to determine a TTG IgA cutoff for discriminating between those with confirmed CeD and those without CeD. Kaplan-Meier and Cox proportional hazard analyses were used to test whether children with T1D+CeD had different times to TTG IgA normalization than children with CeD-only. Negative-binomial regression was used to test whether children with T1D+CeD had different rates of follow-up with pediatric gastroenterology than children with CeD-only.

Results: Among 734 children with T1D, 591 (80.5%) underwent TTG IgA screening. A total of 70 (11.8%) had positive TTG IgA; of those, 43 (61.4%) had confirmed CeD. TTG IgA ≥3.62 times upper limit of normal (ULN) discriminated between biopsy-confirmed CeD and those without CeD (sensitivity 90%, specificity 92%, PPV 93%, NPV 89%). Among 37 children with T1D with positive TTG IgA and endomysial antibody (EMA), 25 had positive EMA (21 confirmed CeD), while 12 had negative EMA (none with CeD) (sensitivity 100%, specificity 75%, PPV 84%, NPV 100%). TTG IgA normalization took longer in T1D+CeD compared to CeD-only (median 6.5 versus 1.2 years, p < 0.001). Pediatric Gastroenterology CeD follow-up rates were lower in T1D+CeD subjects (0.33 versus 0.48 visits per person-year, p < 0.001).

Conclusion: TTG IgA ≥3.6 times ULN or positive EMA is recommended to proceed with CeD confirmation. In cases of mild TTG IgA positivity, EMA can guide CeD confirmation given its high negative predictive value.

Introduction: The COVID-19 pandemic necessitated worldwide lockdowns in 2020 and 2021, with restrictions on physical activity and changes in eating habits. The aim of this study was to investigate temporal trends in body mass index (BMI) and BMI Standard Deviation Score (SDS) in three international type 1 diabetes (T1D) registries between 2018 and 2021.

Methods: Data were extracted from DPV (Germany/Austria/Luxembourg/Switzerland), T1D Exchange Quality Improvement Collaborative (T1DX-QI, USA), and the Australasian Diabetes Data Network (ADDN, Australia/New Zealand). The period affected by the COVID-19 pandemic was defined as March to December 2020 and March to December 2021 and compared with the respective 9-month periods in 2018 and 2019. Estimated mean BMI (adults ≥19 years) and WHO BMI SDS (children and adolescents 5 to <19 years) were calculated, adjusted for sex, age, HbA1c, and diabetes duration. Adjusted mean proportions overweight (BMI ≥25 in adults or BMI SDS >1 in children and adolescents 5 to <19 years) and obese (BMI ≥30 kg/m2 or BMI SDS >2 in children and adolescents 5 to <19 years) were also calculated, adjusted for sex, age, HbA1c, and diabetes duration.

Results: The study population comprised: ADDN (n = 14,624, median age 15.7 years, 51% male); DPV (n = 62,732, 16.1 years, 53.3% male); and T1DX-QI (n = 22,942, 17.1 years, 52.1% male). In the DPV registry, BMI SDS in children and adolescents and BMI in adults increased consistently between 2018 and 2021 (p < 0.001). In ADDN and T1DX-QI, variable changes in BMI and BMI SDS were seen in adults and young people. Close to 50% of people in all registries were either overweight or obese. Proportions overweight remained relatively stable across the 4 years. The proportion of obesity increased in children 5 to <10 years.

Conclusions: A slight increase in BMI and BMI SDS observed before the pandemic continued during the pandemic years. The proportion of overweight and obesity was overall high. Healthy weight remains a priority for people with T1D.

Introduction: Vosoritide is a C-type natriuretic peptide (CNP) analog that binds its receptor on chondrocytes, promoting growth by inhibiting the ERK1/2-MAPK pathway. We previously reported the results of a phase II study in children with hypochondroplasia. Vosoritide led to an average increase in annualized height velocity (AHV) of 1.81 cm/year and gain of 0.36 in height standard deviation (SD) over 12 months. We present here the pharmacokinetic/pharmacodynamic (PK/PD) data from this study and examine the correlations between these parameters and growth outcomes.

Methods: We conducted a phase II trial of daily subcutaneous vosoritide (15 μg/kg/day) in 24 prepubertal subjects with hypochondroplasia (12 females, mean age 5.9 ± 2.3 years, mean height -3.29 + 0.68 SD). Plasma vosoritide levels were assayed using an electrochemiluminescence assay. PD markers including serum collagen X biomarker (CXM) and urine cyclic guanosine monophosphate (cGMP) production were measured at day 1, month 6, and month 12 visits. Pearson correlations and regression analyses were performed between PK and PD parameters and growth outcomes.

Results: Vosoritide PK parameters were similar to those previously reported in patients with achondroplasia. CXM levels increased from a baseline mean of 22.5 ± 6.5 to 41.6 ± 15.9 ng/mL after 12 months of treatment (p < 0.0001). Urine cGMP increased within 1 h and peaked at 2 h after injection. The mean AUC for cGMP production was not significantly different at each study visit. The maximum change in cGMP AUC correlated with PK AUC (r = 0.46, p = 0.0001). However, drug exposure, as measured by average PK AUC, did not correlate with any growth outcome. CXM levels correlated with the prior 6-month interval height velocity (partial correlation coefficient = 0.40, p = 0.0048). However, change in CXM did not correlate with change in height velocity or change in height SD during treatment.

Conclusions: Vosoritide treatment showed improvement in AHV and height SD in children with hypochondroplasia. PK analysis indicates that drug exposure was correlated to global CNP activity as measured by urine cGMP but did not correlate with growth outcomes. More studies are needed to identify specific patient characteristics that can predict response to therapy and clinical outcomes.

In the article by Bayrak Demirel et al. entitled "Thyrotoxic Hypokalemic Periodic Paralysis Induced by High-Dose Insulin in an Adolescent Male with Type 1 Diabetes Mellitus" [Horm Res Paediatr. 2024, DOI: 10.1159/000543329] the license was incorrect, and it has been changed from CCC to CC BY-NC 4.0.