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ERIC Number: EJ904056
Record Type: Journal
Publication Date: 2006
Pages: 9
Abstractor: As Provided
Reference Count: 37
ISSN: ISSN-1080-4013
The Clinical Aspects of Newborn Screening: Importance of Newborn Screening Follow-Up
James, Philip M.; Levy, Harvey L.
Mental Retardation and Developmental Disabilities Research Reviews, v12 n4 p246-254 2006
The aim of newborn screening is to identify presymptomatic healthy infants that will develop significant metabolic or endocrine derangements if left undiagnosed and untreated. The goal of ultimately reducing or eliminating irreversible sequelae is reached by maximizing test sensitivity of the primary newborn screening that measures specific analytes by a number of methodologies. Differentiation of true from false negatives is accomplished by the test specificity. This review discusses disorders for which, in general, there are available therapies and that are detected by routine and expanded newborn screening. Recommendations are presented for evaluation by a primary care physician, with confirmation by a metabolic or endocrinology specialist. Disorders are organized in tabular format by class of pathway or analyte, with attention to typical clinical presentations, confirmatory biochemical and molecular tests, and therapies. There are numerous challenges in clinical follow-up, including diagnosis and appropriate understanding of the consequences of the disorders. The data required to meet these challenges can be acquired only by large scale longitudinal comprehensive studies of outcome in children identified by newborn screening. Only with such data can newborn screening fully serve families. (Contains 3 tables and 2 figures.)
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Publication Type: Journal Articles; Reports - Evaluative
Education Level: Early Childhood Education
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A