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1.
Am J Med Genet A ; 173(6): 1539-1545, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28332275

RESUMO

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.


Assuntos
Síndrome de Down/fisiopatologia , Hipotireoidismo/fisiopatologia , Doenças da Glândula Tireoide/fisiopatologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Síndrome de Down/sangue , Síndrome de Down/complicações , Feminino , Humanos , Hipotireoidismo/sangue , Hipotireoidismo/complicações , Lactente , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Doenças da Glândula Tireoide/sangue , Doenças da Glândula Tireoide/complicações , Testes de Função Tireóidea , Glândula Tireoide/fisiopatologia , Tireotropina/sangue , Tiroxina/sangue
2.
Am J Med Genet A ; 170(12): 3098-3105, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27605215

RESUMO

The main purposes of this undertaking were to determine how often patients with Down syndrome (DS) are screened for celiac disease (CD) across five DS specialty clinics, which symptoms of CD are most often reported to DS specialty providers at these clinics, and, how many individuals were diagnosed with CD by these clinics. This was accomplished by following 663 individuals with DS for 1 year, across five clinics in different states specializing in the comprehensive care of people with DS. Of the 663 participants, 114 individuals were screened for CD at their visit to a DS specialty clinic. Protracted constipation (43.2%) and refractory behavioral problems (23.7%) were symptoms most often reported to DS specialty providers. During the 1 year study period, 13 patients screened positive for CD by serology. Of those, eight underwent duodenal biopsy, and three were diagnosed with CD. We conclude that CD is an important consideration in the comprehensive care of individuals with DS. However, while symptoms are common, diagnoses are infrequent in DS specialty clinics. © 2016 Wiley Periodicals, Inc.


Assuntos
Doença Celíaca/diagnóstico , Síndrome de Down/diagnóstico , Aconselhamento Genético , Adolescente , Adulto , Biópsia , Doença Celíaca/complicações , Doença Celíaca/fisiopatologia , Criança , Pré-Escolar , Síndrome de Down/complicações , Síndrome de Down/fisiopatologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Adulto Jovem
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