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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-01-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/8/1/5 |
| _version_ | 1827648506709409792 |
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| author | Jane Chudleigh Jürg Barben Clement L. Ren Kevin W. Southern |
| author_facet | Jane Chudleigh Jürg Barben Clement L. Ren Kevin W. Southern |
| author_sort | Jane Chudleigh |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T19:40:10Z |
| format | Article |
| id | doaj.art-17c8ffe638334524ab59347b4612082c |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-09T19:40:10Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-17c8ffe638334524ab59347b4612082c2023-11-24T01:39:28ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2022-01-0181510.3390/ijns8010005International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive DiagnosisJane Chudleigh0Jürg Barben1Clement L. Ren2Kevin W. Southern3School of Health Sciences, City, University of London, London EC1V 0HB, UKChildren’s Hospital of Eastern Switzerland, 9000 St. Gallen, SwitzerlandChildren’s Hospital of Philadelphia, Philadelphia, PA 19104, USADepartment of Women’s and Children’s Health, University of Liverpool, Liverpool L69 3BX, UKThe 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.https://www.mdpi.com/2409-515X/8/1/5cystic fibrosisnewborn bloodspot screeningCFTR-related metabolic syndromecystic fibrosis screen positiveinconclusive diagnosis |
| spellingShingle | Jane Chudleigh Jürg Barben Clement L. Ren Kevin W. Southern International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis International Journal of Neonatal Screening cystic fibrosis newborn bloodspot screening CFTR-related metabolic syndrome cystic fibrosis screen positive inconclusive diagnosis |
| title | International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis |
| title_full | International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis |
| title_fullStr | International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis |
| title_full_unstemmed | International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis |
| title_short | International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis |
| title_sort | international approaches to management of cftr related metabolic syndrome cystic fibrosis screen positive inconclusive diagnosis |
| topic | cystic fibrosis newborn bloodspot screening CFTR-related metabolic syndrome cystic fibrosis screen positive inconclusive diagnosis |
| url | https://www.mdpi.com/2409-515X/8/1/5 |
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