Abstract
Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion into NBS programs. Among those are several conditions with a strong neuronopathic component. Some of these conditions have already been added to a few national and international screening programs, whereas others are undergoing pilot studies to determine the test performance metrics. Here, we review the current state of NBS for 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, and Friedreich ataxia.
Original language | English (US) |
---|---|
Pages (from-to) | 247-253 |
Number of pages | 7 |
Journal | Developmental Disabilities Research Reviews |
Volume | 17 |
Issue number | 3 |
DOIs | |
State | Published - Jun 2013 |
Keywords
- Dried blood spots
- Immuno-quantification
- Lysosomal storage disorder
- Newborn screening
- Peroxisomal disorders
- Tandem mass spectrometry
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Developmental and Educational Psychology
- Psychiatry and Mental health