| Literature DB >> 28332275 |
Jenifer Lavigne1, Christianne Sharr2, Ibrahim Elsharkawi2, Al Ozonoff3,4, Nicole Baumer3,5, Campbell Brasington1, Sheila Cannon6, Blythe Crissman7, Emily Davidson3,5, Jose C Florez2,3, Priya Kishnani7, Angela Lombardo5, Jordan Lyerly1, Mary Ellen McDonough2, Alison Schwartz2,3, Kathryn Berrier7, Susan Sparks1, Kara Stock-Guild5, Tomi L Toler2, Kishore Vellody6, Lauren Voelz5, Brian G Skotko2,3.
Abstract
The goals of this undertaking were to assess the outcomes of thyroid screening tests and adherence to thyroid screening guidelines across five Down syndrome (DS) specialty clinics in various states. Data related to thyroid screening were collected for 663 individuals across five clinics specializing in the comprehensive care of individuals with DS for a period of 1 year. Of the 663 participants, 47.7% of participants had a TSH and free T4 ordered at their DS specialty clinic visit. Approximately 19.0% (60/316) had a new thyroid disorder diagnosis made. We conclude that a sizable proportion of the patients with DS are not up-to-date on current guidelines when they present to a DS specialty clinic, while adherence to thyroid screening guidelines helps facilitate early diagnoses. Hypothyroidism is prevalent in the population, consistent with reported literature. DS specialty clinics can help patients stay current on screening guidelines.Entities:
Keywords: Down syndrome; patient database; registry; subclinical hypothyroidism; thyroid disease; trisomy 21
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Year: 2017 PMID： 28332275 DOI： 10.1002/ajmg.a.38219
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802