Detecting celiac disease in patients with Down syndrome

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; Brian G. Skotko

doi:10.1002/ajmg.a.37879

Detecting celiac disease in patients with Down syndrome

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 VellodyLauren Voelz, Brian G. Skotko

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	3098-3105
Number of pages	8
Journal	American Journal of Medical Genetics, Part A
Volume	170
Issue number	12
DOIs	https://doi.org/10.1002/ajmg.a.37879
State	Published - Dec 1 2016

Keywords

Down syndrome
Trisomy 21
celiac disease
patient database
registry

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10.1002/ajmg.a.37879

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Sharr, C., Lavigne, J., Elsharkawi, I. M. A., Ozonoff, A., Baumer, N., Brasington, C., Cannon, S., Crissman, B., Davidson, E., Florez, J. C., Kishnani, P., Lombardo, A., Lyerly, J., McDonough, M. E., Schwartz, A., Berrier, K. L., Sparks, S., Stock-Guild, K., Toler, T. L., ... Skotko, B. G. (2016). Detecting celiac disease in patients with Down syndrome. American Journal of Medical Genetics, Part A, 170(12), 3098-3105. https://doi.org/10.1002/ajmg.a.37879

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title = "Detecting celiac disease in patients with Down syndrome",

abstract = "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.",

keywords = "Down syndrome, Trisomy 21, celiac disease, patient database, registry",

author = "Christianne Sharr and Jenifer Lavigne and Elsharkawi, {Ibrahim M.A.} and Al Ozonoff and Nicole Baumer and Campbell Brasington and Sheila Cannon and Blythe Crissman and Emily Davidson and Florez, {Jose C.} and Priya Kishnani and Angela Lombardo and Jordan Lyerly and McDonough, {Mary Ellen} and Alison Schwartz and Berrier, {Kathryn L.} and Susan Sparks and Kara Stock-Guild and Toler, {Tomi L.} and Kishore Vellody and Lauren Voelz and Skotko, {Brian G.}",

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year = "2016",

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doi = "10.1002/ajmg.a.37879",

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Sharr, C, Lavigne, J, Elsharkawi, IMA, Ozonoff, A, Baumer, N, Brasington, C, Cannon, S, Crissman, B, Davidson, E, Florez, JC, Kishnani, P, Lombardo, A, Lyerly, J, McDonough, ME, Schwartz, A, Berrier, KL, Sparks, S, Stock-Guild, K, Toler, TL, Vellody, K, Voelz, L & Skotko, BG 2016, 'Detecting celiac disease in patients with Down syndrome', American Journal of Medical Genetics, Part A, vol. 170, no. 12, pp. 3098-3105. https://doi.org/10.1002/ajmg.a.37879

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AU - Sharr, Christianne

AU - Lavigne, Jenifer

AU - Elsharkawi, Ibrahim M.A.

AU - Ozonoff, Al

AU - Baumer, Nicole

AU - Brasington, Campbell

AU - Cannon, Sheila

AU - Crissman, Blythe

AU - Davidson, Emily

AU - Florez, Jose C.

AU - Kishnani, Priya

AU - Lombardo, Angela

AU - Lyerly, Jordan

AU - McDonough, Mary Ellen

AU - Schwartz, Alison

AU - Berrier, Kathryn L.

AU - Sparks, Susan

AU - Stock-Guild, Kara

AU - Toler, Tomi L.

AU - Vellody, Kishore

AU - Voelz, Lauren

AU - Skotko, Brian G.

PY - 2016/12/1

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N2 - 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.

AB - 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.

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EP - 3105

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 12

ER -

Detecting celiac disease in patients with Down syndrome

Abstract

Keywords

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