Lavigne Jenifer, Sharr Christianne, Elsharkawi Ibrahim, Ozonoff Al, Baumer Nicole, Brasington Campbell, Cannon Sheila, Crissman Blythe, Davidson Emily, Florez Jose C, Kishnani Priya, Lombardo Angela, Lyerly Jordan, McDonough Mary Ellen, Schwartz Alison, Berrier Kathryn, Sparks Susan, Stock-Guild Kara, Toler Tomi L, Vellody Kishore, Voelz Lauren, Skotko Brian G
Department of Pediatrics, Clinical Genetics, Levine Children's Hospital at Carolinas Healthcare System, Charlotte, North Carolina.
Down Syndrome Program, Division of Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.
Am J Med Genet A. 2017 Jun;173(6):1539-1545. doi: 10.1002/ajmg.a.38219. Epub 2017 Mar 23.
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.
这项工作的目标是评估甲状腺筛查测试的结果以及五个不同州的唐氏综合征（DS）专科诊所对甲状腺筛查指南的遵循情况。在为期1年的时间里，收集了五家专门为DS患者提供综合护理的诊所中663名个体的甲状腺筛查相关数据。在663名参与者中，47.7%的参与者在其DS专科诊所就诊时进行了促甲状腺激素（TSH）和游离甲状腺素（free T4）检测。约19.0%（60/316）的患者被诊断出患有新的甲状腺疾病。我们得出结论，相当一部分DS患者在前往DS专科诊所就诊时未遵循当前指南，而遵循甲状腺筛查指南有助于早期诊断。甲状腺功能减退症在该人群中普遍存在，与报道的文献一致。DS专科诊所可以帮助患者跟上筛查指南的要求。
