Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability.

ABSTRACT: Global developmental delay and intellectual disability (GDD/ID) affect 3% of the paediatric population. Although inborn errors of metabolism (IEM) are not a common cause of GDD/ID, early therapeutic intervention can improve neurodevelopmental manifestations. In 2012, a first-tier test panel, including specialized metabolic and routine chemistry tests, was piloted to community-based paediatricians in British Columbia with aims to achieve earlier diagnosis of treatable IEM.

Objective

The aim of this retrospective review was to evaluate the diagnostic yield from these first-tier tests in the 7 years before (2006 to 2012) and after (2013 to 2019) implementation at the community paediatrician level.

Results

Prior and postimplementation diagnostic yield of an IEM from first-tier me

SUBMITTER: Vallance H 

PROVIDER: S-EPMC8522830 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature