International approaches for delivery of positive newborn bloodspot screening results for CF

BACKGROUND: Newborn bloodspot screening (NBS) for cystic fibrosis (CF) is a well-established public health strategy with international standards. A European survey demonstrated considerable variability in approach to delivering a positive NBS result. We used a mixed methods approach to explore healthcare systems and beliefs around this process. METHODS: We used semi-structured interviews and online questionnaires with a purposive, international sample of health professionals involved in communicating positive NBS results to parents. Data were analysed using thematic analysis and Qualtrics Survey Software. RESULTS: In total, 63 healthcare professionals were approached; 25 interviews were conducted with delegates at the 2017 ECFS conference, 4 online questionnaires were subsequently completed by participants in the EU, 1 from Australia and 33 from the US. Methods used to communicate positive NBS results to families varied considerably. This influenced the quality and quantity of information provided which had the potential to heighten anxiety and affect timely diagnostic testing. Participants identified positive practices including systems to improve the timeliness of screening and processing of results, as well as areas for improvement. Respondents stated that knowledge of CF and familiarity with the family were both important when deciding who should communicate positive NBS results. CONCLUSIONS: Guidance and practice regarding communication of positive NBS results for CF to families varies considerably internationally. Further research is needed to ensure information received is accurate, up-to-date and from the most appropriate person. Also, that all children are followed up in a timely manner to minimise potential negative outcomes for the child and family

International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis

The main aim of the present study was to explore health professionals' reported experiences and approaches to managing children who receive a designation of cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive inconclusive diagnosis following a positive NBS result for cystic fibrosis. An online questionnaire was distributed via Qualtrics Survey Software and circulated to a purposive, international sample of health professionals involved in managing children with this designation. In total, 101 clinicians completed the online survey: 39 from the US, six from Canada, and 56 from Europe (including the UK). Results indicated that while respondents reported minor deviations in practice, they were cognizant of recommendations in the updated guidance and for the most part, attempted to implement these into practice consistently internationally. Where variation was reported, the purpose of this appeared to be to enable clinicians to respond to either clinical assessments or parental anxiety in order to improve outcomes for the child and family. Further research is needed to determine if these findings are reflective of both a wider audience of clinicians and actual (rather than reported) practice

Risk factors for hospital admission with RSV bronchiolitis in England: a population-based birth cohort study.

OBJECTIVE: To examine the timing and duration of RSV bronchiolitis hospital admission among term and preterm infants in England and to identify risk factors for bronchiolitis admission. DESIGN: A population-based birth cohort with follow-up to age 1 year, using the Hospital Episode Statistics database. SETTING: 71 hospitals across England. PARTICIPANTS: We identified 296618 individual birth records from 2007/08 and linked to subsequent hospital admission records during the first year of life. RESULTS: In our cohort there were 7189 hospital admissions with a diagnosis of bronchiolitis, 24.2 admissions per 1000 infants under 1 year (95%CI 23.7-24.8), of which 15% (1050/7189) were born preterm (47.3 bronchiolitis admissions per 1000 preterm infants (95% CI 44.4-50.2)). The peak age group for bronchiolitis admissions was infants aged 1 month and the median was age 120 days (IQR = 61-209 days). The median length of stay was 1 day (IQR = 0-3). The relative risk (RR) of a bronchiolitis admission was higher among infants with known risk factors for severe RSV infection, including those born preterm (RR = 1.9, 95% CI 1.8-2.0) compared with infants born at term. Other conditions also significantly increased risk of bronchiolitis admission, including Down's syndrome (RR = 2.5, 95% CI 1.7-3.7) and cerebral palsy (RR = 2.4, 95% CI 1.5-4.0). CONCLUSIONS: Most (85%) of the infants who are admitted to hospital with bronchiolitis in England are born at term, with no known predisposing risk factors for severe RSV infection, although risk of admission is higher in known risk groups. The early age of bronchiolitis admissions has important implications for the potential impact and timing of future active and passive immunisations. More research is needed to explain why babies born with Down's syndrome and cerebral palsy are also at higher risk of hospital admission with RSV bronchiolitis

A new scoring system in Cystic Fibrosis: statistical tools for database analysis – a preliminary report

<p>Abstract</p> <p>Background</p> <p>Cystic fibrosis is the most common fatal genetic disorder in the Caucasian population. Scoring systems for assessment of Cystic fibrosis disease severity have been used for almost 50 years, without being adapted to the milder phenotype of the disease in the 21^stcentury. The aim of this current project is to develop a new scoring system using a database and employing various statistical tools. This study protocol reports the development of the statistical tools in order to create such a scoring system.</p> <p>Methods</p> <p>The evaluation is based on the Cystic Fibrosis database from the cohort at the Royal Children's Hospital in Melbourne. Initially, unsupervised clustering of the all data records was performed using a range of clustering algorithms. In particular incremental clustering algorithms were used. The clusters obtained were characterised using rules from decision trees and the results examined by clinicians. In order to obtain a clearer definition of classes expert opinion of each individual's clinical severity was sought. After data preparation including expert-opinion of an individual's clinical severity on a 3 point-scale (mild, moderate and severe disease), two multivariate techniques were used throughout the analysis to establish a method that would have a better success in feature selection and model derivation: 'Canonical Analysis of Principal Coordinates' and 'Linear Discriminant Analysis'. A 3-step procedure was performed with (1) selection of features, (2) extracting 5 severity classes out of a 3 severity class as defined per expert-opinion and (3) establishment of calibration datasets.</p> <p>Results</p> <p>(1) Feature selection: CAP has a more effective "modelling" focus than DA.</p> <p>(2) Extraction of 5 severity classes: after variables were identified as important in discriminating contiguous CF severity groups on the 3-point scale as mild/moderate and moderate/severe, Discriminant Function (DF) was used to determine the new groups mild, intermediate moderate, moderate, intermediate severe and severe disease. (3) Generated confusion tables showed a misclassification rate of 19.1% for males and 16.5% for females, with a majority of misallocations into adjacent severity classes particularly for males.</p> <p>Conclusion</p> <p>Our preliminary data show that using CAP for detection of selection features and Linear DA to derive the actual model in a CF database might be helpful in developing a scoring system. However, there are several limitations, particularly more data entry points are needed to finalize a score and the statistical tools have further to be refined and validated, with re-running the statistical methods in the larger dataset.</p

Futures in the making: Practices to anticipate 'ubiquitous computing'

This paper addresses the discourse for a proactive thinking of futurity, intimately concerned with technology, which comes to an influential fruition in the discussion and representation of 'ubiquitous computing'. The imagination, proposal, or playing out of ubiquitous computing environments are bound up with particular ways of constructing futurity. This paper charts the techniques used in ubiquitous computing development to negotiate that futurity. In so doing, it engages with recent geographical debates around anticipation and futurity. The discussion accordingly proceeds in four parts. First, the spatial imagination engendered by the development of ubiquitous computing is explored. Second, particular techniques in ubiquitous computing research and development for anticipating future technology use, and their limits, are discussed through empirical findings. Third, anticipatory knowledge is explored as the basis for stable means of future orientation, which both generates and derives from the techniques for anticipating futures. Fourth, the importance of studying future orientation is situated in relation to the somewhat contradictory nature of anticipatory knowledges of ubicomp and related forms of spatial imagination. © 2012 Pion and its Licensors