Childhood Nutritional Factors and Cardiometabolic Outcomes at 9-11 y of Age: Findings from the ROLO Longitudinal Birth Cohort Study.

Background: Childhood represents a critical period of nutritional risk in the programming of later chronic disease. Few longitudinal studies have explored repeated measures of nutrition throughout the first decade of life in relation to preteen cardiometabolic outcomes.

Objectives: This research aimed to explore associations of early feeding practices (human milk exposure and duration and timing of introduction to solids) and childhood dietary quality and inflammatory scores (at 5 and 9-11 y and change during childhood) on preteen cardiometabolic outcomes.

Serum IL-36β levels are associated with Insulin sensitivity in paediatric patients with obesity.

Although the orchestrating role of Interleukin-36 cytokines in regulating inflammation at barrier tissue sites, is well established, whether they play a significant role in the settings of metabolic health and disease, has yet to be fully established. Several recent studies have demonstrated that IL-36 cytokine expression is elevated among adult patients with obesity, and can play roles in regulating both insulin sensitivity and driving inflammation. In this report, we have extended these analyses to paediatric patients and identified an association between elevated serum levels of expression of the specific Interleukin-36 subfamily member, IL-36β, among children with obesity displaying insulin sensitivity, compared to children with obesity who are insulin resistant.

'It's life threatening, it's not life limiting but it's life threatening' - Dyadic framework analysis of adolescent and parent adjustment to a type 1 diabetes diagnosis.

Type 1 diabetes-management can be considered an adolescent-parent collaboration. Given particular adolescent adherence challenges, it is integral that adolescent-parent dyadic relationships are investigated. Therefore, this study aimed to explore dyads' adjustment to type 1 diabetes, while examining the congruence/dissimilarity within these dyads.

Adolescents, parents, and providers' experiences of triadic encounters in paediatric diabetes clinics: A qualitative study.

Introduction: Adolescents with Type 1 diabetes are a cohort whose self-management of their diabetes care often declines during adolescence which can lead to adverse health outcomes. Research indicates that providers find it challenging to engage adolescents in communication exchanges during triadic encounters in diabetes clinics. Our study aimed to explore adolescents, parents, and providers' experiences of clinic encounters.

The impact of macrosomia on cardiometabolic health in preteens: findings from the ROLO longitudinal birth cohort study.

Background: Macrosomia (birthweight ≥ 4 kg or ≥ 4.5 kg) is strongly associated with a predisposition to childhood obesity, which in turn is linked with adverse cardiometabolic health. Despite this, there is a lack of longitudinal investigation on the impact of high birthweight on cardiometabolic outcomes in youth.

Encouraging adolescents' participation during paediatric diabetes clinic visits: Design and development of a question prompt list intervention.

Aims: To investigate adolescents' communication with healthcare providers (HCPs) and co- design a question prompt list as one part of an intervention to increase patient participation and communication at diabetes clinic visits.

Methods: Using an adolescent-led co-design approach we conducted interviews and focus groups with adolescents, parents, and healthcare providers (HCPs) and held workshops with both a Youth Advisory Group (YAG) and a Parent Advisory Group (PAG).

Results: Adolescents and parents identified challenges categorised into four themes: negative experience communicating with HCPs, lacking patient education leading to disinterest, low self-confidence out of fear of being wrong and forgetting to ask question(s).

Mucosal-associated invariant T cells are associated with insulin resistance in childhood obesity, and disrupt insulin signalling via IL-17.

Aims/hypothesis: Mucosal-associated invariant T cells (MAIT cells) are an abundant population of innate T cells. When activated, MAIT cells rapidly produce a range of cytokines, including IFNγ, TNF-α and IL-17. Several studies have implicated MAIT cells in the development of metabolic dysfunction, but the mechanisms through which this occurs are not fully understood.

Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.

Background: Hyperinsulinism results from inappropriate insulin secretion during hypoglycaemia. Down syndrome is causally linked to a number of endocrine disorders including Type 1 diabetes and neonatal diabetes. We noted a high number of individuals with Down syndrome referred for hyperinsulinism genetic testing, and therefore aimed to investigate whether the prevalence of Down syndrome was increased in our hyperinsulinism cohort compared to the population.

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

Purpose: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood.

Methods: Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed.

Results: Sixty-one distinct pathogenic KDM6A variants (50 truncating, 11 missense) from 80 patients (34 males, 46 females) were identified.

Endoscopic extended transsphenoidal surgery for newly diagnosed paediatric craniopharyngiomas.

Purpose: Endoscopic extended transsphenoidal surgery (EETSS) has gained popularity for treatment of craniopharyngiomas. The aim of this study is to assess the outcome of endoscopic extended transsphenoidal surgery (EETSS) for newly diagnosed paediatric craniopharyngiomas.

Methods: Patient details were obtained from a prospective database of all endoscopic transnasal operations performed by a single surgeon.

Developing a video intervention to improve youth question-asking and provider education during paediatric diabetes clinic encounters: The Promoting Adolescents Communication and Engagement study.

Background: Research on long-term health conditions indicates that adolescents are not actively involved during their medical visits. Active involvement is essential because this can help adolescents learn how to self-manage their treatment plan.

Objective: To co-design a video intervention to improve youth question-asking and provider education during paediatric diabetes visits.

Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation.

In this article, we describe the long-term outcomes of children who were previously reported to have developed hypophosphatemic bone disease in association with elemental formula use. An extended chart review allowed for an updated report of 34 children with regard to severity/duration of bone disease, extent of recovery, and time to correction using radiology reports and biochemical data. After implementation of formula change and/or phosphate supplementation, we found that serum phosphorus concentration increased and serum alkaline phosphatase activity decreased in all patients, normalizing by 6.

Nucleic acid cytokine responses in obese children and infants of obese mothers.

Almost a third of Irish children are now overweight and the country ranks 58th out of 200 countries for its proportion of overweight youths. With the rising obesity epidemic, and the impaired immune responses of this population, it is vital to understand the effects that obesity has on the immune system and to design future therapeutics, adjuvants and vaccines with overweight and obese populations in mind. Many current vaccines use adjuvants that have been found to be less effective at stimulating the immune response in children compared with adults and there is now substantial effort to design paediatric-focused adjuvants.

Incidence of Congenital Hypothyroidism Over 37 Years in Ireland.

Background And Objectives: Congenital hypothyroidism (CHT) is one of the most common preventable causes of learning disability. Newborn screening with whole-blood thyroid-stimulating hormone measurements was introduced in the Republic of Ireland in 1979 and is coordinated from a single center with an unchanged protocol since its inception. Our objective in this study was to describe the incidence of CHT in the Republic of Ireland over the past 37 years in the context of a complete national population and an unchanged screening protocol.

The influence of treatment, age at onset, and metabolic control on height in children and adolescents with type 1 diabetes-A SWEET collaborative study.

Objective: To describe the association between height, demographics, and treatment in youths with type 1 diabetes participating in an international network for pediatric diabetes centers (SWEET).

Methods: Data were collected from 55 centers with documented patients' height. All subjects below 20 years of age, diabetes duration >1 year, and without celiac disease were included.

Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".

The author Diva D. De Leon was incorrectly listed as instead of Diva D. De Leó-Critchlow in the original version of this paper.

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.

Purpose: Describe the clinical and molecular findings of patients with Kabuki syndrome (KS) who present with hypoglycemia due to congenital hyperinsulinism (HI), and assess the incidence of KS in patients with HI.

Methods: We documented the clinical features and molecular diagnoses of 9 infants with persistent HI and KS via a combination of sequencing and copy-number profiling methodologies. Subsequently, we retrospectively evaluated 100 infants with HI lacking a genetic diagnosis, for causative variants in KS genes.

Catalogue of inherited disorders found among the Irish Traveller population.

Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity result in many rare autosomal recessive disorders. Due to founder effects and endogamy, most recessive disorders are caused by specific homozygous mutations unique to this population.

NK cells in childhood obesity are activated, metabolically stressed, and functionally deficient.

Childhood obesity is a major global concern, with over 50 million children now classified as obese. Obesity has been linked to the development of numerous chronic inflammatory diseases, including type 2 diabetes and multiple cancers. NK cells are a subset of innate effector cells, which play an important role in the regulation of adipose tissue and antitumor immunity.

Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children.

Objective: Hypophosphatemia occurs with inadequate dietary intake, malabsorption, increased renal excretion, or shifts between intracellular and extracellular compartments. We noticed the common finding of amino-acid based elemental formula [EF] use in an unexpected number of cases of idiopathic hypophosphatemia occurring in infants and children evaluated for skeletal disease. We aimed to fully characterize the clinical profiles in these cases.

Altered distribution and increased IL-17 production by mucosal-associated invariant T cells in adult and childhood obesity.

Mucosal-associated invariant T (MAIT) cells are innate MHC-unrestricted cells that regulate inflammatory responses through the rapid production of cytokines. In this article, we show that circulating MAIT cells are depleted in obese adults, and depletion is associated with diabetic status. Circulating MAIT cells more frequently produced IL-17 upon stimulation ex vivo, a cytokine implicated in insulin resistance.

An overview of the role of social network sites in the treatment of adolescent diabetes.

Of all the forms of social media, social network sites (SNS) have seen the fastest and broadest uptake, and their role within health care is only starting to be explored. SNS in clinical practice have the potential to provide education and support without the costs and constraints of more conventional treatment approaches. However, in order to effectively utilize SNS, it is important to use the SNS most frequented by adolescents.

Fear of hypoglycemia in parents of children with type 1 diabetes.

Aim: The aim of this study is to determine if parental hypoglycaemia fear is associated with worse glycaemic control and increased resource utilisation and to identify risk factors for increased hypoglycaemia fear.

Methods: Parents of children with diabetes completed a modified Hypoglycaemia Fear Survey. Demographic data, phone contacts and mean glycosylated haemoglobin A1c (HbA1c) were also recorded over a 1 year study period.