Detecting celiac disease in patients with Down syndrome

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• 作者：Christianne Sharr ; Jenifer Lavigne ; Ibrahim M. A. Elsharkawi ; Al Ozonoff ; Nicole Baumer ; Campbell Brasington ; Sheila Cannon ; Blythe Crissman ; Emily Davidson ; Jose C. Florez ; Priya Kishnani ; Angela Lombardo ; Jordan Lyerly ; Mary Ellen McDonough ; Alison Schwartz ; Kathryn L. Berrier ; Susan Sparks ; Kara Stock-Guild ; Tomi L. Toler ; Kishore Vellody ; Lauren Voelz and Brian G. Skotko
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：170
• 期：12
• 页码：3098-3105
• 全文大小：100K
• ISSN：1552-4833

文摘

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.