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Newborn screening compared to clinical identification of biochemical genetic disorders

2002; Springer Science+Business Media; Volume: 25; Issue: 7 Linguagem: Inglês

10.1023/a

1573-2665

Susan E. Waisbren, Catherine Y. Read, Mary G. Ampola, Thomas Brewster, Laurie Demmer, Robert M. Greenstein, C. L. Ingham, Mark Korson, Michael E. Msall, Siegfried M. Pueschel, M. R. Seashore, Emily Shih, Helen Levy,

Genomics and Rare Diseases

Abstract A group of 28 patients with inherited metabolic disease (homocystinuria galactosaemia, maple syrup urine disease and biotinidase deficiency) diagnosed by screening were compared with a group of 17 similar patients identified clinically. The rate of hospitalization was similar for the two groups. The patients diagnosed clinically showed a higher incidence of mental retardation and their parents experienced greater stress and found greater difficulty in meeting their child's needs.