Title |
Public support for neonatal screening for Pompe disease, a broad-phenotype condition
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Published in |
Orphanet Journal of Rare Diseases, March 2012
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DOI | 10.1186/1750-1172-7-15 |
Pubmed ID | |
Authors |
Stephanie Shifra Weinreich, Tessel Rigter, Carla Geertruida van El, Wybo Jan Dondorp, Pieter Johannes Kostense, Ans T van der Ploeg, Arnold JJ Reuser, Martina Cornelia Cornel, Marloes Louise Catharina Hagemans |
Abstract |
Neonatal screening for Pompe disease has been introduced in Taiwan and a few U.S. states, while other jurisdictions including some European countries are piloting or considering this screening. First-tier screening flags both classic infantile and late-onset Pompe disease, which challenges current screening criteria. Previously, advocacy groups have sometimes supported expanded neonatal screening more than professional experts, while neutral citizens' views were unknown. This study aimed to measure support for neonatal screening for Pompe disease in the general public and to compare it to support among (parents of) patients with this condition. The study was done in the Netherlands, where newborns are not currently screened for Pompe disease. Newborn screening is not mandatory in the Netherlands but current uptake is almost universal. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Netherlands | 2 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 1 | 50% |
Members of the public | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 2% |
Switzerland | 1 | 2% |
Canada | 1 | 2% |
Unknown | 56 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 10 | 17% |
Student > Ph. D. Student | 8 | 14% |
Student > Bachelor | 8 | 14% |
Student > Master | 7 | 12% |
Student > Doctoral Student | 5 | 8% |
Other | 14 | 24% |
Unknown | 7 | 12% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 32 | 54% |
Biochemistry, Genetics and Molecular Biology | 3 | 5% |
Agricultural and Biological Sciences | 3 | 5% |
Psychology | 3 | 5% |
Nursing and Health Professions | 2 | 3% |
Other | 7 | 12% |
Unknown | 9 | 15% |