Title |
Newborn screening for pompe disease? a qualitative study exploring professional views
|
---|---|
Published in |
BMC Pediatrics, August 2014
|
DOI | 10.1186/1471-2431-14-203 |
Pubmed ID | |
Authors |
Carla G van El, Tessel Rigter, Arnold JJ Reuser, Ans T van der Ploeg, Stephanie S Weinreich, Martina C Cornel |
Abstract |
Developments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a broad-spectrum phenotype disorder that may occur in lethal form in early infancy or manifest in less severe forms from infancy to late adulthood. Current screening tests cannot differentiate between these forms. Normally, expanding screening is discussed among experts in advisory bodies. While advisory reports usually mention the procedures and outcome of deliberations, little is known of the importance attached to different arguments and the actual weighing processes involved. In this research we aim to explore the views of a wide range of relevant professionals to gain more insight into the process of weighing pros and cons of neonatal screening for Pompe disease, as an example of the dilemmas involved in screening for broad-spectrum phenotype disorders. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Peru | 1 | 2% |
Unknown | 45 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 6 | 13% |
Researcher | 5 | 11% |
Student > Doctoral Student | 5 | 11% |
Student > Ph. D. Student | 5 | 11% |
Student > Bachelor | 4 | 9% |
Other | 10 | 22% |
Unknown | 11 | 24% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 16 | 35% |
Psychology | 4 | 9% |
Biochemistry, Genetics and Molecular Biology | 3 | 7% |
Social Sciences | 3 | 7% |
Nursing and Health Professions | 2 | 4% |
Other | 7 | 15% |
Unknown | 11 | 24% |