Newborn screening for pompe disease? a qualitative study exploring professional views.

ABSTRACT:

Background

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

SUBMITTER: van El CG 

PROVIDER: S-EPMC4139142 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature