Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study
| Autor: | Tomi L. Toler, Susan Sparks, Jenifer Lavigne, Emily Davidson, Lauren Voelz, Brian G. Skotko, Alison Schwartz, Jordan Lyerly, Al Ozonoff, Priya S. Kishnani, Jose C. Florez, Blythe G. Crissman, Kara Stock-Guild, Angela Lombardo, Kathryn L. Berrier, Nicole Bäumer, Ibrahim Elsharkawi, Christianne Sharr, Sheila Cannon, Mary Ellen McDonough, Kishore Vellody, Campbell Brasington |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine endocrine system Pediatrics medicine.medical_specialty Down syndrome Adolescent endocrine system diseases Population Thyroid Gland Specialty Thyrotropin 030209 endocrinology & metabolism Thyroid Function Tests 030105 genetics & heredity 03 medical and health sciences 0302 clinical medicine Hypothyroidism Thyroid dysfunction Genetics medicine Humans In patient Registries Medical diagnosis Child education Genetics (clinical) Aged education.field_of_study business.industry Thyroid disease Infant Middle Aged medicine.disease Thyroid Diseases Thyroid disorder Thyroxine Child Preschool Female Down Syndrome business |
| Zdroj: | American Journal of Medical Genetics Part A. 173:1539-1545 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.38219 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text