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

Chudleigh, Jane, Barben, Juerg, Ren, Clement L and Southern, Kevin W ORCID: 0000-0001-6516-9083 (2022) International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 8 (1). 5-.

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Official URL: http://dx.doi.org/10.3390/ijns8010005

Abstract

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.

Item Type:	Article
Uncontrolled Keywords:	cystic fibrosis, newborn bloodspot screening, CFTR-related metabolic syndrome, cystic fibrosis screen positive, inconclusive diagnosis
Divisions:	Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Life Courses and Medical Sciences
Depositing User:	Symplectic Admin
Date Deposited:	20 May 2022 13:02
Last Modified:	18 Jan 2023 21:01
DOI:	10.3390/ijns8010005
Open Access URL:	https://www.mdpi.com/2409-515X/8/1/5
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3155211