, Melissa Yssel, MB ChB, FC Path(SA) Chem 139, and Wendy M. Zakowicz, BS 79 Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. Methods: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25-30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration.

This study suggests that there is considerable delay before appropriate therapy in RLS. A large number have EDS and insomnia among others, is the commonest presenting feature. Phenotypic heterogeneity may cause diagnostic difficulty.

BackgroundNarcolepsy is a chronic primary sleep disorder, characterized by excessive daytime sleepiness and sleep dysfunction with or without cataplexy. Narcolepsy is uncommon, with a low prevalence rate which makes it difficult to diagnose definitively without a complex series of tests and a detailed history. The aim of this study was to review patients referred to a tertiary sleep centre who had been labelled with a diagnosis of narcolepsy prior to referral in order to assess if the diagnosis was accurate, and if not, to determine the cause of diagnostic misattribution.MethodsAll patients seen at a sleep centre from 2007–2013 (n = 551) who underwent detailed objective testing including an MSLT PSG, as well as wearing an actigraphy watch and completing a sleep diary for 2 weeks, were assessed for a pre-referral and final diagnosis of narcolepsy.ResultsOf the 41 directly referred patients with a diagnostic label of narcolepsy, 19 (46 %) were subsequently confirmed to have narcolepsy on objective testing and assessment by a sleep physician using ICSD-2 criteria.ConclusionsThe diagnosis of narcolepsy was incorrectly attributed to almost 50 % of patients labelled with a diagnosis of narcolepsy who were referred for further opinion by a variety of specialists and generalists. Accurate diagnosis of narcolepsy is critical for many reasons, such as the impact it has on quality of life, driving, employment, insurance and pregnancy in women as well as medication management.

IntroductionJuvenile-onset systemic lupus erythematous (JSLE) is a rare multisystem autoimmune disorder. In 2012, the Single Hub and Access point for pediatric Rheumatology in Europe (SHARE) initiative developed recommendations for the diagnosis/management of JSLE, lupus nephritis (LN) and childhood-onset anti-phospholipid syndrome (APS). These recommendations were based upon available evidence informing international expert consensus meetings.ObjectiveTo review new evidence published since 2012 relating to the management of JSLE, LN and APS in children, since the original literature searches informing the SHARE recommendations were performed.MethodMEDLINE, EMBASE and CINAHL were systematically searched for relevant literature (2012-2021) using the following criteria: (1) English language studies; (2) original research studies regarding management of JSLE, LN, APS in children; (3) adult studies with 3 or more patients <18-years old, or where the lower limit of age range ≤16-years and the mean/median age is ≤30-years; (4) randomized controlled trials (RCTs), cohort studies, case control studies, observational studies, case-series with >3 patients. Three reviewers independently screened all titles/abstracts against predefined inclusion/exclusion criteria. All relevant manuscripts were reviewed independently by at least two reviewers. Data extraction, assessment of the level of evidence/methodological quality of the manuscripts was undertaken in-line with the original SHARE processes. Specific PUBMED literature searches were also performed to identify new evidence relating to each existing SHARE treatment recommendation.ResultsSix publications met the inclusion/exclusion criteria for JSLE: three RCTs, one feasibility trial, one case series. For LN, 16 publications met the inclusion/exclusion criteria: eight randomized trials, three open label prospective clinical trials, five observational/cohort studies. For APS, no publications met the inclusion criteria. The study with the highest evidence was an RCT comparing belimumab vs. placebo, including 93 JSLE patients. Whilst the primary-endpoint was not met, a significantly higher proportion of belimumab-treated patients met the PRINTO/ACR cSLE response to therapy criteria. New evidence specifically addressing each SHARE recommendation remains limited.ConclusionSince the original SHARE literature searches, undertaken >10-years ago, the main advance in JSLE treatment evidence relates to belimumab. Additional studies are urgently needed to test new/existing agents, and assess their long-term safety profile in JSLE, to facilitate evidence-based practice.

IntroductionHealth inequalities are unfair, systematic differences in health between people. In the UK, the Health and Social Care Act 2012 recognised health inequalities as a responsibility of the National Health Service (NHS). Health inequalities were foregrounded in the publication of 2019 NHS Long Term Plan and during the SARS-CoV-2/COVID-19 pandemic. Hospitals are well placed to address health inequalities through their role as anchor institutions. While many hospitals have begun to address inequalities, children are often overlooked or assumed to have the same needs as adult populations. This grey literature scoping review aims to identify, collate and present approaches taken by hospitals to address health inequalities in children and young people.Methods and analysisThis scoping review will follow Joanna Briggs Institute guidance. A four-step approach to identifying grey literature will be used. Literature will be examined to identify approaches that aim to address health inequalities. Literature must describe the health inequality they aim to address and be initiated by the hospital. It will exclude literature not available in English and published before 2010. Two reviewers will independently review the results of the searches using the inclusion and exclusion criteria. Data will be extracted using a data extraction tool. Study findings will be presented in tabular form detailing the interventions identified.DisseminationThe review will synthesise information on worldwide hospital approaches to addressing child health inequalities. The findings will be used to inform guidelines for children’s hospitals in the UK and will be disseminated through national and international professional bodies, conferences and research papers.

A BSTRACT Background and Aim: By this time, the world has already witnessed catastrophic effects of the pandemic on economic and healthcare services infrastructure, from India the scientific publications documenting this effect are quite sparse. The current report aims to compile the socio-economic, demographic and healthcare services transactions among the population in the non-governmental organization (NGO) supported areas of Gujarat state. Methods: The data were collected by human research of the NGO from Sanand, Mundra and Ahmedabad sites at three different time intervals – pre-lockdown, during lockdown and post-lockdown. Results: The findings of the study reported a clear increase in availing of healthcare services in all three study sites covered under the programmes of the NGO. It was clearly evident that the impact of lockdown on the livelihood of the population in all three sites was devastating with a significant proportion of individuals losing their jobs. However, the majority of the people were able to rejoin the jobs (though with lower average income) in all three sites. During the lockdown, people heavily relied on stored food sources such as grains and pulses and consumption of fresh vegetables and fruits reduced significantly. Lockdown has severely hampered essential maternal and child care services which were remarkably improved in the months of post-lockdown. A considerable number of the family had to mortgage their assets during the lockdown. The mortgage proportion varied widely (3–58%) among all the study sites. Conclusion: It was observed that in the unprecedented time, the national lockdown was a challenging time, where there was a drastic shift in the livelihood profile of the population due to significant loss of jobs. Lockdown has also severely affected the essential healthcare services coverage; however, with efforts from the government and the NGO, it was restored to a near pre-lockdown situation in all three sites.

BACKGROUNDMultifetal gestation is responsible for a disproportionate amount of overall perinatal mortality and morbidity. Multifetal pregnancies have increased due to fertility treatment for assisted reproductive techniques.

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