Journal
GENETICS IN MEDICINE
Volume 11, Issue 7, Pages 548-551Publisher
NATURE PUBLISHING GROUP
DOI: 10.1097/GIM.0b013e3181a9c250
Keywords
Down syndrome; practice guidelines; guideline adherence; thyroid diseases; screening
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Funding
- HRSA/Matemal and Child Health Bureau [U22MC03962]
- Heritable Disorders Heartland Collaborative, through the University of Oklahoma Health Sciences Center
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Purpose: To determine adherence to the American Academy of Pediatrics guidelines for thyroid screening in children with Down syndrome among primary care providers in the states of Oklahoma and Nebraska. Methods: We sought to identify all children with Down syndrome born in Oklahoma and Nebraska between 1994 and 2004 and review their medical records for evidence of thyroid screening. Patients were identified through a State Department of Health birth defects registry in Oklahoma and through participation in genetics clinics and laboratories in Nebraska and Oklahoma. Charts obtained from primary care providers were reviewed and the Dumber of actual thyroid screens was compared with the number of recommended screens for each individual during the study period. Results: In Oklahoma, 13% of participating children received all thyroid screens recommended in the guidelines. In Nebraska, 14% of children received all recommended thyroid screenings. Among participants in Oklahoma, a mean of 34% of recommended thyroid screenings were performed. In Nebraska, a mean of 45% of recommended thyroid screenings were performed. Conclusions: The level of adherence to the American Academy of Pediatrics guidelines for thyroid screening in children with Down syndrome is low. Factors contributing to this low level of adherence need to be identified and addressed. Genet Med 2009:11(7):548-551.
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