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dc.contributor.authorShepherd, Maggie
dc.contributor.authorKnight, Bridget A.
dc.contributor.authorLaskey, Katherine
dc.contributor.authorMcDonald, Timothy J.
dc.date.accessioned2020-11-17T13:08:31Z
dc.date.available2020-11-17T13:08:31Z
dc.date.issued2020-11-04
dc.identifier.citationShepherd M et al. Parental experiences of a diagnosis of neonatal diabetes and perceptions of newborn screening for glucose: a qualitative study. BMJ Open. 2020 Nov 4;10(11):e037312.en_US
dc.identifier.pmid33148726
dc.identifier.doi10.1136/bmjopen-2020-037312
dc.identifier.urihttps://rde.dspace-express.com/handle/11287/621556
dc.description.abstractNeonatal diabetes presents <6 months of life but delays in recognition result in presentation with life-threatening hyperglycaemia/diabetic ketoacidosis. Early identification and rapid genetic diagnosis is crucial and ensures correct treatment/management. Adding 'glucose' to newborn bloodspot screening (NBS) could aid prompt detection but requires evidence of parental acceptance. Objectives: Increase understanding of parental experience of presentation/recognition of neonatal diabetes and perceptions of glucose testing within NBS. Setting: UK families confirmed with a genetic diagnosis of neonatal diabetes, November 2014-2018, were invited to participate. Participants: In-depth qualitative interviews were conducted with 10 parents of 14 children. 8 had transient neonatal diabetes: KCNJ11 (n=5), ABCC8 (n=1), 6q24 (n=2), 6 had permanent neonatal diabetes: KCNJ11 (n=4), INS (n=1), homozygous GCK (n=1). Primary and secondary outcome measures: Interviews audio recorded, transcribed and subjected to thematic content analysis. Results: 3 key themes emerged:Babies were extremely ill at hospital admission, with extended stays in intensive care required.Identification of diabetes was not 'standardised' and perceived a 'chance' finding.Adding glucose to NBS was universally considered extremely positive. Conclusions: Diagnosis of neonatal diabetes is frequently delayed, resulting in critically ill presentation with prolonged intensive care support, additional healthcare costs and familial distress. Potential to detect hyperglycaemia earlier was universally endorsed by parents with no negative consequences identified. Although further study including a larger number of individuals is needed to confirm our findings this study provides the first evidence of acceptability of glucose testing fulfilling Wilson-Jungner criteria for implementation within the NBS programme.en_US
dc.language.isoenen_US
dc.publisherHighWireen_US
dc.relation.urlhttps://bmjopen.bmj.com/lookup/pmidlookup?view=long&pmid=33148726en_US
dc.rights© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. s This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/ licenses/by/4.0/en_US
dc.rightsCC0 1.0 Universal*
dc.rights.urihttp://creativecommons.org/publicdomain/zero/1.0/*
dc.subjectdiabetesen_US
dc.subjectWessex Classification Subject Headings::Endocrinologyen_US
dc.subjectgeneticsen_US
dc.subjectneonatologyen_US
dc.subjectqualitative researchen_US
dc.subjectWessex Classification Subject Headings::Paediatricsen_US
dc.titleParental experiences of a diagnosis of neonatal diabetes and perceptions of newborn screening for glucose: a qualitative studyen_US
dc.typeJournal Articleen_US
dc.identifier.journalBMJ Openen_US
dc.identifier.pmcidPMC7643500
dc.description.noteThis article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.en_US
dc.description.fundingMS is a National Institute for Health Research (NIHR) 70@70 Senior Nurse and Midwife Research Leaderen_US
dc.type.versionPublisheden_US
dc.description.admin-notepublished version, accepted version, submitted versionen_US


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© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ.
s This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given,
and indication of whether changes were made. See: https://creativecommons.org/
licenses/by/4.0/
Except where otherwise noted, this item's license is described as © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. s This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/ licenses/by/4.0/