Initial Clinical Referral Standards after Newborn Screening for Congenital Hypothyroidism: Final Report of the UK Newborn Screening Programme Centre Expert Working Group and Systematic Evidence Review 2010-2011.

Background In April 2010, the Initial Clinical Referral Standards (ICR) for Congenital Hypothyroidism (CHT) Expert Working Group was convened as a sub-group of the Joint Standing Committee for Congenital Hypothyroidism (CHT JSC) to review and revise the UK National Screening Programme Initial Clinical Referral Standards after Newborn Screening for Congenital Hypothyroidism. The work commenced with a systematic review of the published evidence undertaken by Dr R Knowles and Ms F Olafsdottir. The Expert Working Group reviewed and recommended revisions to the existing (2005) UKNSPC standards and guidelines to support confirmatory diagnosis and initial management for babies in whom CHT is suspected. This included a review of current CHT screening policy and UK performance against national standards and European standards and guidelines. The Expert Working Group, chaired by Dr T Cheetham (Consultant Paediatric Endocrinologist), met on four occasions between July 2010 and September 2011 to review and revise the referral standards. Scope of the review To support the review process with evidence review and expert consensus where published evidence is lacking, focusing on the following topic areas: • Screening test performance and indications for referral • Diagnostic schedule for confirmatory diagnosis of CHT • Initial treatment and frequency of follow up to the point of diagnosis or definitive management • Communication flows • Communication with parents Public Consultation A public consultation was carried out in May/June 2012 and subsequent changes to the standards on the basis of the responses are included in this final version of the report. Summary and Recommendations The subgroup’s final recommendations were endorsed by the Joint Standing Committee and Blood Spot Advisory Group (BSAG) and submitted to the Fetal Maternal and Child Health Subgroup of the National Screening Committee (NSC) for approval of changes to current screening policy and standards. This final report presents the revised standards, screening protocol and diagnostic protocol developed by the Expert Working Group and finalised after public consultation, as well as the evidence basis for the revised standards and guidelines

Challenges for funders in monitoring compliance with policies on clinical trials registration and reporting: analysis of funding and registry data in the UK

Objectives: To evaluate compliance by researchers with funder requirements on clinical trial transparency, including identifying key areas for improvement; to assess the completeness, accuracy and suitability for annual compliance monitoring of the data routinely collected by a research funding body. / Design: Descriptive analysis of clinical trials funded between February 2011 and January 2017 against funder policy requirements. / Setting: Public medical research funding body in the UK. / Data sources: Relevant clinical trials were identified from grant application details, post-award grant monitoring systems and the International Standard Randomised Controlled Trial Number (ISRCTN) registry. / Main outcome measure: The proportion of all Medical Research Council (MRC)-funded clinical trials that were (a) registered in a clinical trial registry and (b) publicly reported summary results within 2 years of completion. / Results: There were 175 grants awarded that included a clinical trial and all trials were registered in a public trials registry. Of 62 trials completed for over 24 months, 42 (68%) had publicly reported the main findings by 24 months after trial completion; 18 of these achieved this within 12 months of completion. 11 (18%) trials took >24 months to report and 9 (15%) completed trials had not yet reported findings. Five datasets were shared with other researchers. / Conclusions: Compliance with the funder policy requirements on trial registration was excellent. Reporting of the main findings was achieved for most trials within 24 months of completion; however, the number of unreported trials remains a concern and should be a focus for future funder policy initiatives. Identifying trials from grant management and grant monitoring systems was challenging therefore funders should ensure investigators reliably provide trial registries with information and regularly update entries with details of trial publications and protocols

Risk factors for permanent childhood hearing impairment.

OBJECTIVE: While several perinatal risk factors for permanent childhood hearing impairment (PCHI) are known, association with gestational length remains unclear. We hypothesised that shorter gestational length predicts higher PCHI risk. DESIGN: 19 504 participants from the UK Millennium Cohort Study (born 2000-2002, prior to newborn screening). METHODS: Multivariable discrete-time survival analysis to examine associations between parent-reported PCHI by age 11 years and gestational length, plus other prespecified factors. RESULTS: PCHI affected 2.1 per 1000 children (95% CI 1.5 to 3.0) by age 11; however, gestational length did not predict PCHI risk (HR, 95% CI 1.00, 0.98 to 1.03 per day increase). Risk was increased in those with neonatal illness, with or without admission to neonatal care (6.33, 2.27 to 17.63 and 2.62, 1.15 to 5.97, respectively), of Bangladeshi or Pakistani ethnicity (2.78, 1.06 to 7.31) or born to younger mothers (0.92, 0.87 to 0.97 per year). CONCLUSION: Neonatal illness, rather than gestational length, predicts PCHI risk. Further research should explore associations with ethnicity.EB is funded by an Economic and Social Research Council studentship, grant number: ES/J500185/1. RLK is a Clinical Advisor to the NHS Newborn Blood Spot Screening Programme at Public Health England. CD is supported by Health Data Research UK, which is funded by the UK Medical Research Council, Engineering and Physical Sciences Research Council, Economic and Social Research Council, National Institute for Health Research (England), Chief Scientist Office of the Scottish Government Health and Social Care Directorates, Health and Social Care Research and Development Division (Welsh Government), Public Health Agency (Northern Ireland), British Heart Foundation and Wellcome Trust. All research at Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health is made possible by the NIHR Great Ormond Street Hospital Biomedical Research Centre. The Millennium Cohort Study is funded by grants to former and current directors of the study from the Economic and Social Research Council (Professor Heather Joshi, Professor Lucinda Platt and Professor Emla Fitzsimons) and a consortium of government funders

The Life Study Journey

Life Study is a new and very important research study that will involve more than 80,000 babies born between 2014 and 2018 – and their families – from across the UK. Life Study will collect information about these babies over their early lives and childhoods and into adult life. This will help us understand how early life experiences shape health and wellbeing later on. Life Study will support a wide range of research designed to understand how to give every child the best possible start in life. This leaflet provides an overview of the participant journey from recruitment in maternity units through the first year participating in Life Study

About Life Study: participant information for fathers and partners (version 2.0; dated 21.03.2014)

Life Study is a new and very important research study that will involve more than 80,000 babies born between 2014 and 2018 – and their families – from across the UK. Life Study will collect information about these babies over their early lives and childhoods and into adult life. This will help us understand how early life experiences shape health and wellbeing later on. Life Study will support a wide range of research designed to understand how to give every child the best possible start in life. Life Study has started recruiting participants from maternity units in Phase 1 of the study. The following leaflet provides information for fathers and partners of pregnant women considering taking part in Life Study

Patient Reported Outcome and Experience Measures (PROMs and PREMs): Service Users’ Perspectives

There is an increased emphasis in the NHS on development and application of Patient Reported Outcome and Experience Measures (PROMs and PREMs) as a means of patient-led assessment of health outcomes and care. Equally, in keeping with the ethos of Great Ormond Street Hospital (GOSH), it is essential that these measures are developed and applied with the involvement of patients and their families. To address the current strategies and challenges concerning development and application of PROMs and PREMs for children and young people, we set out to organise a multiprofessional workshop for academic and clinical colleagues from UCL Institute of Child Health and its two key clinical partners GOSH and Moorfields Eye Hospital (MEH). To inform the workshop, as a first step to exploring patient and parent views of PROMs and PREMs, we undertook expert service user consultations with a small group of patients attending GOSH services and their family members. These were held in form of two focus groups, one with young people who are currently, or have been, patients of GOSH, the other with their parents or carers and wider family members. The objective of these discussions was to capture, in the first instance GOSH service users’ views on PROMs and PREMs to understand how to engage effectively with patients and their parents so they understand the importance of completing these questionnaires as part of routine clinical care

About Life Study: participant information for mothers with babies (version 2.0; dated 21.03.2014)

Life Study is a new and very important research study that will involve more than 80,000 babies born between 2014 and 2018 – and their families – from across the UK. Life Study will collect information about these babies over their early lives and childhoods and into adult life. This will help us understand how early life experiences shape health and wellbeing later on. Life Study will support a wide range of research designed to understand how to give every child the best possible start in life. Life Study has started recruiting participants from maternity units in Phase 1 of the study. The following leaflet provides information for mothers who are considering whether their babies should take part in Life Study

Signs of deterioration in infants discharged home following congenital heart surgery in the first year of life: a qualitative study

AIMS: To describe the ways in which parents recognise and make decisions about their child's symptoms following discharge home after congenital heart interventions in the first year of life and their experiences of seeking help. METHODS: This was a qualitative study involving semistructured interviews with parents. Twenty-one parents were recruited to the study. Parents all had a child who had congenital heart surgery in their first year of life between September 2009 and October 2013 at one of three UK cardiac centres; the children had either died or were readmitted as an emergency following initial discharge. RESULTS: Some parents were unable to identify any early warning signs. Others described symptoms of deterioration including changes in feeding and appearance, respiratory distress and subtle behavioural changes that may not be routinely highlighted to parents at discharge. Several barriers to accessing prompt medical assistance were identified including parents feeling that their concerns were not taken seriously, long wait times and lack of protocols at A&E. CONCLUSIONS: Our study highlights behavioural symptoms as being a potentially underemphasised sign of deterioration and identifies a number of barriers to parents accessing support when they are concerned. It is important that parents are encouraged to seek advice at the earliest opportunity and that those health professionals at the front line have access to the information they need in order to respond in an appropriate and timely way. A role for home monitoring was also noted as potentially useful in identifying at risk children who appear clinically well