ERIC Number: EJ973490
Record Type: Journal
Publication Date: 2011
Pages: 6
Abstractor: As Provided
ISBN: N/A
ISSN: ISSN-1940-5510
EISSN: N/A
Expanding Newborn Screening for Lysosomal Disorders: Opportunities and Challenges
Waggoner, Darrel J.; Tan, Christopher A.
Developmental Disabilities Research Reviews, v17 n1 p9-14 2011
Newborn screening (NBS), since its implementation in the 1960s, has traditionally been successful in reducing mortality and disability in children with a range of different conditions. Lysosomal storage disorders (LSD) are a heterogeneous group of inherited metabolic diseases that result from lysosomal dysfunction. Based on available treatment and suitable screening methods, the LSDs that are considered for NBS generally include Fabry, Gaucher, Krabbe, MPSI, MPSII, MPSV, Metachromatic leukodystrophy, Niemann-Pick, and Pompe. Utilizing traditional and expanded criteria for consideration of NBS leads to a set of fundamental questions that need to be explored when considering the opportunities and challenges of adding LSDs to NBS panels. (Contains 1 table.)
Descriptors: Disability Identification, Reading Achievement, Screening Tests, Neonates, Genetic Disorders, Metabolism, Child Health, Medical Services, Health Services
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Publication Type: Journal Articles; Reports - Descriptive
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A
Grant or Contract Numbers: N/A