Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome

2011 ◽  
Vol 46 (11) ◽  
pp. 1079-1084 ◽  
Author(s):  
Clement L. Ren ◽  
Harsh Desai ◽  
Mary Platt ◽  
Marissa Dixon
Keyword(s):  
Metabolic Syndrome ◽  
Cystic Fibrosis ◽  
Clinical Outcomes ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane

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

2022 ◽  
Vol 8 (1) ◽  
pp. 5
Author(s):  
Jane Chudleigh ◽  
Jürg Barben ◽  
Clement L. Ren ◽  
Kevin W. Southern
Keyword(s):  
Metabolic Syndrome ◽  
Cystic Fibrosis ◽  
Health Professionals ◽  
Online Survey ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Online Questionnaire ◽  
The Us ◽  
The Uk ◽  
Cystic Fibrosis Transmembrane

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.

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

2021 ◽  
Author(s):  
Jane Chudleigh ◽  
Jürg Barben ◽  
Clement L Ren ◽  
Kevin W Southern
Keyword(s):  
Metabolic Syndrome ◽  
Cystic Fibrosis ◽  
Health Professionals ◽  
Online Survey ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Online Questionnaire ◽  
The Us ◽  
The Uk ◽  
Cystic Fibrosis Transmembrane

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.

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