Newborn screening compared to clinical identification of biochemical genetic disorders

@article{Waisbren2002NewbornSC,
  title={Newborn screening compared to clinical identification of biochemical genetic disorders},
  author={Susan E Waisbren and Catherine Yetter Read and Mary G Ampola and Thomas G Brewster and Laurie Demmer and Robert M Greenstein and C. L. Ingham and Mark S. Korson and M E Msall and Siegfried M. Pueschel and Margherita R. Seashore and Eugene Shih and Harvey L. Levy},
  journal={Journal of Inherited Metabolic Disease},
  year={2002},
  volume={25},
  pages={599-600}
}
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.