BackgroundPrematurity is a risk factor for chronic disease later in life. According to figures in Ireland, preterm births represent 7% of all births which presents a significant issue for adult healthcare resources. This systematic review synthesised the evidence on long-term endocrine related outcomes for adults who were born prematurely.MethodsA systematic review was conducted by searching the official databases PubMed and Web of Science. Studies were included in the review based on the criteria that they investigated an endocrine outcome in adulthood in the following categories: issues of the hypothalamic-pituitary axis, growth, thyroid, adrenal function, insulin sensitivity, lipid metabolism, cardiometabolic pathology, and bone health. We were guided by the standards set by the “Preferred Reporting Items for Systematic Review and Meta-Analysis” (PRISMA) Statement.ResultsThe search yielded 1,814 studies and after removal of duplicates, 1,584 papers entered screening. 65 full texts were reviewed, after inclusion and exclusion criteria was applied, 27 studies were used for data extraction. Results revealed that being born premature was a significant risk factor for a myriad of endocrine issues in later life. Reduced height, dysfunction of the HPA axis, lower fertility rates, lower bone mineral density and increased odds of hypothyroidism were all outcomes that were associated with preterm birth. Cardiometabolic related outcomes formed the bulk of our data (11/27); these studies found associations between prematurity and increased risk of diabetes, decreased insulin sensitivity, higher body fat percentage and dyslipidaemia.DiscussionThis review highlighted that prematurity is associated with long term endocrine dysfunction in multiple domains. It provided a large set of data demonstrating this association across the various endocrine pathologies relating to bone, thyroid, growth, reproduction and metabolism. This highlights the necessity of long term follow up into adulthood for individuals born preterm.

AimTo conduct a pilot randomized trial of an intervention to improve adolescent question-asking and provider education during paediatric diabetes visits.MethodsAdolescents aged 11 to 17 with type 1 diabetes and their parents were enrolled from two urban tertiary paediatric clinics. Adolescents were randomised to the intervention group or control group. Adolescent consultations were audio-recorded, their HbA1c level was recorded, and they completed surveys after three clinic appointments. The intervention group completed a question prompt list and watched a video on a tablet with their parents before meeting their doctor and completed a short evaluation after each visit.ResultsSix consultant endocrinologists and ninety-nine adolescents and their parents participated. The intervention increased adolescents’ question asking and provider education in diabetes encounters. Total patient question-asking across the 3 consultations and a higher baseline HbA1c at time one was significantly associated with HbA1c at time three.ConclusionsQuestion prompt lists and an educational video are useful tools to increase adolescents’ question-asking and communication between adolescents and their providers.Practice ImplicationsInterventions that encourage adolescents’ question-asking in healthcare encounters may lead to more meaningful providers-adolescents’ communication and tailored education. Interventions to improve professionals’ listening, communication and educational skills are also required.

Brief summary: In this study the authors reported the adult height and timing of puberty of a cohort of Danish children born small for gestational age (SGA) and treated with rhGH in comparison with national growth standards. rhGH treatment significantly increased height SDS in adulthood as compared to the height SDS at treatment start. Age at peak height velocity did not differ compared with the reference cohort, although peak height velocity was reduced in SGA subjects. SGA boys had an earlier onset of puberty compared with the reference cohort.

BACKGROUND:Prader-Willi syndrome (PWS) is a neurogenetic syndrome with an associated behavioural phenotype and a high incidence of behaviours of concern and psychiatric co-morbidity. These associated behaviours and co-morbidities are not well addressed by existing interventions, and they impact significantly on affected individuals and their caregivers.METHODS:We undertook a national survey of the needs of individuals with PWS and their families in Ireland. In this paper, we report on the parent/caregiver-reported mental health, behavioural and access to services.RESULTS:Over 50% of individuals with PWS in this survey had at least one reported psychiatric diagnosis, the most common diagnosis was anxiety. The most commonly reported behaviours in children were skin picking, repetitive questioning, difficulty transitioning and non-compliance. The same four behaviours were reported by caregivers as being the most commonly occurring in adolescents and adults in addition to food-seeking behaviours. Increased needs for mental health services were also reported by caregivers. Individuals with PWS had an average wait of 22 months for an appointment with a psychologist and 4 months for an appointment with a psychiatrist.CONCLUSION:This study highlighted high levels of psychiatric co-morbidities and behavioural concerns in individuals with PWS in Ireland. The findings of this study suggest that there is an urgent need to provide specialist psychiatric and behavioural interventions to manage complex mental health and behavioural needs to better support individuals with PWS and reduce caregiver burden.

Background: A seasonal variation in the frequency of acute stone presentations has been observed in studies from the US, Africa and Asia. The increased incidence of nephrolithiasis during periods of warm weather has been attributed to both the dehydrating effect of elevated temperatures and the vitamin D related increase in calciuria during periods of increased sunshine. The aim of this study is to establish whether the association between various meteorological parameters and the frequency of nephrolithiasis also exists in a European climate. Methods: All CT kidneys, ureters and bladder (CTKUB) scans performed by Emergency Departments within the Dublin Midland Hospital Group between June 2017 and September 2018 were identified from the national radiological database. The date of scan in addition to stone parameters (site, size, side) were recorded. This data was then correlated with weather recordings obtained from the Irish meteorological office. Results: A total of 2,441 patients were investigated for suspected renal colic during the study period of which 781 were confirmed to have ureteric stones. An increased frequency of acute nephrolithiasis was observed during the summer months of both years (June, July, August). Unexpectedly, the heatwave of summer 2018 was not associated with an increased frequency of nephrolithiasis compared with summer 2017. Conclusions: There is an increased frequency of acute nephrolithiasis during the summer months in Ireland. Healthcare services should be tailored to expect an increase in service needs during these periods of increased activity.

Citation for pulished version (APA): Wegmann, M. G., Jensen, R. B., Thankamony, A., Frystyk, J., Roche, E., Hoey, H., Kirk, J., Shaikh, G., Ivarsson, S-A., Söder, O., Dunger, D. B., & Juul, A. (2020). Increases in bioactive IGF do not parallel increases in total IGF-I during growth hormone treatment of children born SGA. The Journal of clinical endocrinology and metabolism, 105(4), E1291-E1298. [dgz118]. https://doi.org/10.1210/clinem/dgz118

Aims To evaluate the impact on the family of caring for a child with PWS, the associated caregiver burden and the parents perceived impact of PWS on the affected child’s Quality of Life (QOL). Methods All children diagnosed with PWS, attending the service were invited to participate (n=44). QOL was evaluated using the PedsQL questionnaire, validated for use in PWS. The Family Impact module was used to measure the impact of PWS on the family unit. Parent Proxy Reports were used to evaluate the parent’s perception of the child’s QOL. The PWS Burden questionnaire was used to assess additional challenges associated with managing a child with PWS. Results Participantsincluded nineteen children. Median age was 7.9 years (range 0.6 years – 18.1 years). Majority were female (n=14, 74%). Median age at diagnosis was 2.5 weeks (range birth – 2.7 years). Growth Hormone treatment was in place for the majority (n=14, 74%) and commenced at a median age of 2 years 6 months. Of the reporting parents, 89% (n=17) were mothers with 37% (n=7) reporting to be homemakers. All children were living in 2 parent households. QOL Family Impact Families reported ‘Worry’ about the child’s medical treatment, their future, how others will react to their child’s condition and the impact on other family members as having the most significant negative impact on the family. Statistically significant negative correlations between the family’s QOL and age/weight were observed across a number of domains, the strongest apparent in the area of family functioning and family relationships. QOL Parent Proxy Reports PWS was perceived by parents to impact most significantly on their child’s School functioning. Statistically significant negative correlations with age and weight were observed with parents identifying their child’s psychosocial health and social functioning to be most notably affected. Burden Various areas were identified as significantly adding to caregiver burden such as concerns regarding long-term health and disruptions to family routines. Conclusion PWS impacts significantly on QOL for both the affected child and the entire family.

Aims An Emergency Paediatric Care Programme in Myanmar provides training in the stabilisation and safe transfer of sick children. The transfer of seriously sick children may be necessary to ensure the appropriate level of care, but is fraught with difficulties. A review of current practice and local challenges was undertaken. Methods In September 2015 a retrospective audit of children admitted with dengue to a Regional Centre was performed to identify reasons for referral. Local healthcare professionals were invited to complete a survey exploring barriers to referral pathways. Results 34% of patients with dengue (n=269) were referred. Only 44% of referrals had a referral letter and 35% did not require tertiary care. Challenges identified included: Late presentation due to families’ preference for traditional medicine, concerns about the quality of public healthcare, medical and transport costs Lack of referral guidelines, human resources and training Transfer of patients who had not first been stabilised Reluctance to acknowledge the potential benefits of transfers Deficiency in ambulances such that patients were transferred by public transport Solutions identified and implemented included: Development of referral guidelines and pathways Training in stabilisation and transfer Development of transfer checklists for emergency equipment and medications Identification of voluntary sector transport vehicles Identification of outpatient tertiary clinic appointments to reduce unnecessary acute referrals Conclusions There is a deficiency in referral pathways between primary, secondary and tertiary healthcare facilities in Myanmar. Development of referral networks and the training of healthcare workers in the stabilisation and transfer of sick children is important to reduce morbidity and mortality.

help maintain tissue euthyroidism in some individuals. However, neonatal jaundice, delayed speech or growth, and obesity were observed in seven subjects in whom diagnosis was delayed. Conclusions As observed with other IGSF1 mutations, p.L773P results in variably penetrant IGSF1 deficiency syndrome. Our observations emphasise the need for multi-generation genetic ascertainment in affected families, especially where TSH-based CH screening 81 programmes may fail to detect CeCH at birth.

Aims Clinical job aides directly benefit clinical care and assist project evaluation. We describe early experience of their introduction as part of an Emergency Paediatric Care Programme (EPCP). Methods An EPCP working group developed pilot job aides. These included admission, observation and drug charts that were piloted in 11 hospitals. Between May and October 2016 the job aides were reviewed and a survey of local healthcare workers undertaken. Results In the majority of hospitals job aides were limited or inadequately completed. Vital sign charts typically only recorded the temperature. The prescription and administration of drugs were recorded in separate places, and admission information recorded on a brief proforma. Although the job aides received positive endorsement during the EPCP courses there has been some resistance to their use in the wards. A survey of patient notes at one site demonstrated that no staff were using the admission forms or the drug charts adequately. Vital signs charts were more acceptable and 100% were satisfactory. Healthcare workers considered the job aides useful, but cited poor staffing and lack of time as the reason for limited acceptance. Suggestions included: Senior endorsement Training for all staff on how to use the job aides Explanation to nurses how vital signs charts can be used to monitor patient progress and signal when to get help Conclusion Job aides can focus the attention of healthcare workers on key signs and symptoms as taught in EPCP. Ongoing training, familiarisation, mentorship and support from senior colleagues will be key for their successful introduction.

SummaryObjectiveLoss‐of‐function mutations in IGSF1 result in X‐linked central congenital hypothyroidism (CeCH), occurring in isolation or associated with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and a minority of heterozygous females are also affected. We identified and characterized a novel IGSF1 mutation and investigated its associated phenotypes in a large Irish kindred.Design, Patients and MeasurementsA novel hemizygous IGSF1 mutation was identified by direct sequencing in two brothers with CeCH, and its functional consequences were characterized in vitro. Genotype‐phenotype correlations were investigated in the wider kindred.ResultsThe mutant IGSF1 protein (c.2318T > C, p.L773P) exhibited decreased plasma membrane expression in vitro due to impaired trafficking from the endoplasmic reticulum. Ten hemizygous males and 11 heterozygous females exhibited characteristic endocrine deficits. Ireland operates a TSH‐based CH screening programme, which does not detect CeCH; therefore, genetic ascertainment preceded biochemical diagnosis of moderate CH in five of seven boys as well as their 75‐year‐old grandfather. Clinical features potentially attributable to hypothyroidism were variable; normal free T3 (FT3) and low/low normal reverse T3 (rT3) concentrations suggested that preferential deiodination of FT4 to FT3 may help maintain tissue euthyroidism in some individuals. However, neonatal jaundice, delayed speech or growth, and obesity were observed in seven subjects in whom diagnosis was delayed.ConclusionsAs observed with other IGSF1 mutations, p.L773P results in variably penetrant IGSF1 deficiency syndrome. Our observations emphasize the need for multi‐generation genetic ascertainment in affected families, especially where TSH‐based CH screening programmes may fail to detect CeCH at birth.

Aims An Emergency Paediatric Care Programme (EPCP) runs training courses in district hospitals. We describe a strategy to support local leadership and develop teams responsible for devising and fulfilling individual implementation plans. Methods During EPCP courses, participants review the hospital facilities and make recommendations for improvement. A local EPCP Champion (senior clinician) supported by an EPCP Team is responsible for identifying local priorities and developing an Implementation Plan to achieve these. They are asked to consider: layout, infrastructure, staffing, patient safety and infection control, drugs and equipment, staff numbers and training, patient records, clinical guidelines, and morbidity and mortality meetings. Additional support is provided through Global Link Volunteer (GLV) placements in the hospitals. A bi-annual EPCP Champion and Team Conference provides an opportunity to share ideas and experiences, problem solve and discuss quality improvement projects. Results GLVs, EPCP Champions and Teams representing 7 district hospitals reported on their Implementation Plans at the first EPCP Champion and Team Conference in July 2016. A wide range of topics were described including weekly simulation training, new guideline wall charts, well-equipped resuscitation areas, new admission and observation charts, improved infection control through the repair of broken sinks and provision of hand-gel and multi-disciplinary mortality meetings. Feedback was extremely positive with the teams feeling motivated, empowered and rewarded for their efforts. Conclusions Successful training depends on its impact in practice; the EPCP Champions and Team Conference demonstrated that the combined efforts of local EPCP Champions and Teams and GLVs in developing the Implementation Plans had led to valuable quality improvements.

Aims Down Syndrome (DS) is the most common genetic syndrome associated with abnormal immune function and immune defects. There is an increased susceptibility to both bacterial and viral infections. We aimed to examine the degree of immunodeficiencies in children with DS. Methods Children who attended the specialist multidisciplinary DS clinic in Tallaght were included, and medical details collected especially in relation to infections, recurrent respiratory tract infections (RTIs), hospital admissions and vaccinations. Results of Full blood counts, T and B cell subsets and immunoglobulins were analysed and compared to age specific reference ranges. Results Twenty-eight children (age range 1–12 years) were included and 16/28 (57%) had recurrent RTIs. Hospitalisation at least once was necessary in 15/28 (54%) patients, and 6/28 (21%) required multiple admissions. All but one patient’s routine immunisations were up to date (96%). Although 22 children had a normal white cell count (WCC), Neutrophil and lymphocyte levels, T and B cell subsets (n=13) revealed decreased CD3+, Helper T, Cytotoxic T and CD19 +B cells, with the latter being significantly reduced. IgA and IgG levels were normal or high in all cases, and levels were either normal or low for IgM. Conclusion We found that children with DS were at increased risk of infections, especially recurrent RTIs, with a significant hospitalisation rate. Vaccination compliance was very high, however the CD19 +B cells were found to be low, which may point to a poor memory B cell response. Further research to evaluate individualised vaccination and prophylactic programmes would be valuable in this cohort.

Aims Healthcare in Myanmar is evolving. This includes the use of evidence based quality improvement, a novel concept for many senior clinicians. Royal College of Paediatrics and Child Health (RCPCH) Global Links Volunteers (GLVs) aimed to deliver audit-based quality improvement teaching to 26 senior local paediatricians (consultants and senior registrars) at 3 sites in central Myanmar. We aimed to assess pre-existing knowledge and post-session motivation to affect change. Methods We devised a half-day simulated quality improvement project (QIP), including an interactive lecture along with simulated data collection and analysis. Each participant thus completed a full QIP cycle. Clinicians then discussed QIP ideas to apply to their own hospitals. One month later they completed a questionnaire to assess the impact of the session. Results Of fifteen respondents, 80% had never experienced quality improvement teaching and over half were unaware of QIP activity ever having occurred in their hospitals. Post-session, 66% of respondents reported they had discussed starting a QIP in their hospital, all whom cited specific examples. 87% reported an intention to start a QIP in the near future and 100% reported feeling more confident regarding the process. The participants seemed motivated, with 100% reporting they felt performing QIPs would make tangible improvements to their hospital, and 100% citing the purpose of a QIP as ‘improvement of patient care’. Despite this none of the respondents had actually started a QIP. Post-session, 33% of respondents reported delivering QIP teaching to local colleagues and thereby encouraging wider participation in quality improvement. They appeared to have retained the information delivered, with 100% correctly explaining the steps of the QIP cycle. Conclusions Interactive practical QIP teaching represents a simple and reproducible model to educate and enthuse senior clinicians with limited previous QIP experience. This enthusiasm appeared to remain 4–6 weeks post teaching. Newly-acquired knowledge had also been disseminated to others. While many respondents reported interest in specific QIPs of their own, none had been realised. This signals both the need and opportunity for on-going partnership to put theory into practice, and continue the evolution of a supportive culture of quality improvement across Myanmar, while further work might assess the barriers to achieving this.