Detecting celiac disease in patients with Down syndrome
| Autor: | Tomi L. Toler, Kishore Vellody, Christianne Sharr, Blythe G. Crissman, Brian G. Skotko, Alison Schwartz, Priya S. Kishnani, Lauren Voelz, Nicole Bäumer, Emily Davidson, Mary Ellen McDonough, Jenifer Lavigne, Susan Sparks, Kara Stock-Guild, Kathryn L. Berrier, Sheila Cannon, Angela Lombardo, Ibrahim Elsharkawi, Al Ozonoff, Jose C. Florez, Campbell Brasington, Jordan Lyerly |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Down syndrome Constipation Adolescent Biopsy Duodenal biopsy Specialty Genetic Counseling Disease Serology Young Adult 03 medical and health sciences 0302 clinical medicine Refractory 030225 pediatrics Genetics medicine Humans In patient Child Genetics (clinical) business.industry Infant Newborn Infant medicine.disease Celiac Disease Child Preschool Female 030211 gastroenterology & hepatology Down Syndrome medicine.symptom business |
| Zdroj: | American Journal of Medical Genetics Part A. 170:3098-3105 |
| ISSN: | 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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