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Clinical benefits of growth hormone (GH) in Prader–Willi syndrome (PWS) are proven and scoliosis is a known association of both PWS and GH therapy. The aims of this study were to assess GH prescribing practices and growth outcomes over time, the prevalence and predictors of scoliosis in GH-treated PWS children, and the near-final height of GH-treated PWS patients. This is a retrospective, descriptive study evaluating data from all clinic visits of patients aged 0–18 years with PWS, seen through the Children's Hospital at Westmead between March 1992 and May 2022 (n=75). A total of 64 patients were treated with GH (visits = 1,414). In the recent decade, the diagnosis of PWS and GH commencement were made significantly earlier in life. The prevalence of scoliosis was 41 %, in which age was the only significant predictor for scoliosis (odds ratio 1.19: 95 % CI [1.08–1.31; p=0.001]) adjusted for other predictors. In patients with data available at the age 16 years (23/28 treated with GH), those who were GH treated had significantly higher height SDS vs. nontreated group (SDS −0.67 vs. −2.58; p=0.0001) and lower BMI SDS (1.18 vs. 2.37; p<0.001). Significant improvements in growth and body composition were seen in the GH-treated group vs. non-treated group of children with PWS. There were no significant modifiable clinical predictors of scoliosis in children with PWS, but our findings confirm the high prevalence of scoliosis in GH-treated children with PWS reinforcing the need for close surveillance. [ABSTRACT FROM AUTHOR]

Aims: The potential harm associated with medication errors is widely reported, but data on actual harm are limited. When actual harm has been measured, assessment processes are often poorly described, limiting their ability to be reproduced by other studies. Our aim was to design and implement a new process to assess actual harm resulting from medication errors in paediatric inpatient care. Methods: Prescribing errors were identified through retrospective medical record reviews (n = 26 369 orders) and medication administration errors through direct observation (n = 5137 administrations) in a tertiary paediatric hospital. All errors were assigned potential harm severity ratings on a 5‐point scale. Multidisciplinary panels reviewed case studies for patients assigned the highest three potential severity ratings and determined the following: actual harm occurrence and severity level, plausibility of a link between the error(s) and identified harm(s) and a confidence rating if no harm had occurred. Results: Multidisciplinary harm panels (n = 28) reviewed 566 case studies (173 prescribing related and 393 administration related) and found evidence of actual harm in 89 (prescribing = 22, administration = 67). Eight cases of serious harm cases were found (prescribing = 1, administration = 7) and no cases of severe harm. The panels were very confident in 65% of cases (n = 302) where no harm was found. Potential and actual harm ratings varied. Conclusions: This harm assessment process provides a systematic method for determining actual harm from medication errors. The multidisciplinary nature of the panels was critical in evaluating specific clinical, therapeutic and contextual considerations including care delivery pathways, therapeutic dose ranges and drug–drug and drug–disease interactions. [ABSTRACT FROM AUTHOR]

We report a familial case of the nephrogenic syndrome of inappropriate antidiuresis (NSIAD), including 30-year followup data on two patients. The proband and one maternal uncle presented in their infancy with severe recurrent hyponatremia, and clinical pictures consistent with the syndrome of inappropriate antidiuretic hormone (SIADH) in the absence of an elevated ADH level. They were both confirmed to be hemizygous for the R137C mutation on the V2R gene (AVPR2), the same locus of the gain of function mutation demonstrated in the original reports of this condition. The proband's mother was identified as an asymptomatic carrier of this X-linked condition. Our case describes a favourable long-term outcome for NSIAD, in particular, successful treatment with oral urea during the infancy period, and with self-regulated precautions on fluid intake into adult life.

Aim: Hybrid closed‐loop (HCL) therapy improves glycaemic control in adolescents with type 1 diabetes; however, little is known about their lived experience using these systems. The aim of this study was to explore the lived experiences of youth with type 1 diabetes using HCL therapy, and their parents, to provide insight into their lived experiences. Methods: Adolescents and young adults aged 12–25 years, who used Medtronic MiniMed™ 670G HCL system during a 6‐month randomised clinical trial, and their parents, were invited to participate in a semi‐structured interview at the end of the study. Open‐ended questions were used to explore the lived experiences of families using HCL. The interviews were audio‐recorded, transcribed and analysed using thematic analysis to determine the main themes. Results: In all, 17 young people with type 1 diabetes mean ± SD age: 17.5 ± 4.2 years, diabetes duration: 11.0 ± 4.9 years and HbA1c 64 ± 9 mmol/mol (8.0 ± 0.8%) and 10 parents were interviewed. Three themes were identified: (1) 'Developing confidence and trust in the system', (2) 'Reduction in anxiety' and (3) 'Issues with device'. They reported a positive experience using HCL, with improvements in glucose levels and increased independence with diabetes management. However, frustration around the number of alarms and notifications associated with the system were also identified as issues. Conclusion: Both youth and parents acknowledged the benefits of this first‐generation HCL system in improving glycaemic outcomes and in providing flexibility and independence. These lived experiences provide valuable information in the introduction and provision of targeted education with HCL therapy. [ABSTRACT FROM AUTHOR]

Abstract Background Concomitant with the rise in childhood obesity there has been a significant increase in the number of adolescents with clinical features of insulin resistance and prediabetes. Clinical insulin resistance and prediabetes are likely to progress to type 2 diabetes and early atherosclerosis if not targeted for early intervention. There are no efficacy trials of lifestyle intervention in this group to inform clinical practice. The primary aim of this randomised control trial (RCT) is to determine the efficacy and effectiveness of two different structured lifestyle interventions differing in diet composition on insulin sensitivity, in adolescents with clinical insulin resistance and/or prediabetes treated with metformin. Methods/design This study protocol describes the design of an ongoing RCT. We are recruiting 108 (54 each treatment arm) 10 to 17 year olds with clinical features of insulin resistance and/or prediabetes, through physician referral, into a multi-centred RCT. All participants are prescribed metformin and participate in a diet and exercise program. The lifestyle program is the same for all participants except for diet composition. The diets are a high carbohydrate, low fat diet and a moderate carbohydrate, increased protein diet. The program commences with an intensive 3 month dietary intervention, implemented by trained dietitians, followed by a 3 month intensive gym and home based exercise program, supervised by certified physical trainers. To measure the longer term effectiveness, after the intensive intervention trial participants are managed by either their usual physician or study physician and followed up by the study dietitians for an additional 6 months. The primary outcome measure, change in insulin sensitivity, is measured at 3, 6 and 12 months. Discussion Clinical insulin resistance and prediabetes in the paediatric population are rapidly emerging clinical problems with serious health outcomes. With appropriate management these conditions are potentially reversible or at least their progression can be delayed. This research study is the first trial designed to provide much needed data on the effective dietary management for this cohort. This study will inform clinical practice guidelines for adolescents with clinical insulin resistance and may assist in preventing metabolic complications, type 2 diabetes and early cardiovascular disease. Trial registration Australian and New Zealand Clinical Trials Registration Number ACTRN12608000416392

Aim: To examine the impact of changes to the endocrine/diabetes after-hours service model of care at a major tertiary children's hospital in Australia. The model aimed to enhance the independence of families and reduce dependency on after-hours calls to health professionals.Methods: The after-hours activity was captured prospectively using an iPad with a customised FileMaker database. Data were collected for 9 months prior to and for 8 months after the implementation of a modified model of service. Questionnaires gathered information from endocrine junior medical officers (JMOs) and other hospital staff. Data on emergency department visits were analysed for presentations before and after the implementation of the service changes.Results: Changes to the after-hours service resulted in a significant reduction in median calls from 9 (range 0-39) to 2 (range 0-7) per shift. The number of shifts with no calls increased from 2 to 24% and the number of shifts with <3 calls increased from 8 to 60%. Disturbed nights (calls between 10 pm and 6 am) decreased from 75 to 29%. Junior medical officer experience was positive and there was no perceivable increase in workload from in-hospital staff. The number of endocrine patients presenting to the emergency department did not change significantly following the implementation of the new after-hours service.Conclusion: This is the only Australian study to prospectively gather accurate on-call data in order to elucidate the impact of changing a hospital's after-hours endocrine/diabetes service to a model that enhanced family empowerment and independence. Historical 24-h on-call service models are not indispensable, and changes can improve sustainability without compromising patient care. [ABSTRACT FROM AUTHOR]