Detecting celiac disease in patients with Down syndrome
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...
Gespeichert in:
| Veröffentlicht in: | American journal of medical genetics. Part A 2016-12, Vol.170A (12), p.3098-3105 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 3105 |
|---|---|
| container_issue | 12 |
| container_start_page | 3098 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 170A |
| creator | Sharr, Christianne Lavigne, Jenifer Elsharkawi, Ibrahim M. A. Ozonoff, Al Baumer, Nicole Brasington, Campbell Cannon, Sheila Crissman, Blythe Davidson, Emily Florez, Jose C. Kishnani, Priya Lombardo, Angela Lyerly, Jordan McDonough, Mary Ellen Schwartz, Alison Berrier, Kathryn L. Sparks, Susan Stock-Guild, Kara Toler, Tomi L. Vellody, Kishore Voelz, Lauren Skotko, Brian G. |
| description | 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. |
| doi_str_mv | 10.1002/ajmg.a.37879 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1850778209</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>4265631871</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4359-e53c120b39e2b62bbeeffd3c1dc0ec0293f952a8f670d6f426d87535027dab413</originalsourceid><addsrcrecordid>eNqN0M1PwjAYBvDGaATRm2ezxIsHh_1Y1-1IQFCCGI0fx6bb3mFxH7huQf57BwMOHoynNs3vfdL3Qeic4C7BmN6oeTrrqi4TnvAPUJtwTm3HY-xwf6e8hU6MmWPMMBfuMWpR4WJOCW8jMYASwlJnMyuERKvQirQBZcDSmbVQpYasNNZSlx_WIF9mllllUZGncIqOYpUYONueHfQ6vH3p39mTx9F9vzexQ4dx3wbOQkJxwHyggUuDACCOo_otCjGEmPos9jlVXuwKHLmxQ93IE5xxTEWkAoewDrpqchdF_lWBKWWqTf3TRGWQV0YSj2MhPIr9f1CHCN8RDNf08hed51WR1YusVU2ot1HXjQqL3JgCYrkodKqKlSRYrruX6-6lkpvua36xDa2CFKI93pVdA6cBS53A6s8w2Rs_jHq7XLsZ06aE7_2YKj6lK5jg8n06ktNnPpyO-Zt8Yj_dQp1q</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1844732830</pqid></control><display><type>article</type><title>Detecting celiac disease in patients with Down syndrome</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Sharr, Christianne ; Lavigne, Jenifer ; Elsharkawi, Ibrahim M. A. ; Ozonoff, Al ; Baumer, Nicole ; Brasington, Campbell ; Cannon, Sheila ; Crissman, Blythe ; Davidson, Emily ; Florez, Jose C. ; Kishnani, Priya ; Lombardo, Angela ; Lyerly, Jordan ; McDonough, Mary Ellen ; Schwartz, Alison ; Berrier, Kathryn L. ; Sparks, Susan ; Stock-Guild, Kara ; Toler, Tomi L. ; Vellody, Kishore ; Voelz, Lauren ; Skotko, Brian G.</creator><creatorcontrib>Sharr, Christianne ; Lavigne, Jenifer ; Elsharkawi, Ibrahim M. A. ; Ozonoff, Al ; Baumer, Nicole ; Brasington, Campbell ; Cannon, Sheila ; Crissman, Blythe ; Davidson, Emily ; Florez, Jose C. ; Kishnani, Priya ; Lombardo, Angela ; Lyerly, Jordan ; McDonough, Mary Ellen ; Schwartz, Alison ; Berrier, Kathryn L. ; Sparks, Susan ; Stock-Guild, Kara ; Toler, Tomi L. ; Vellody, Kishore ; Voelz, Lauren ; Skotko, Brian G.</creatorcontrib><description>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.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.37879</identifier><identifier>PMID: 27605215</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Adolescent ; Adult ; Biopsy ; celiac disease ; Celiac Disease - complications ; Celiac Disease - diagnosis ; Celiac Disease - physiopathology ; Child ; Child, Preschool ; Down syndrome ; Down Syndrome - complications ; Down Syndrome - diagnosis ; Down Syndrome - physiopathology ; Female ; Genetic Counseling ; Humans ; Infant ; Infant, Newborn ; Male ; patient database ; registry ; Trisomy 21 ; Young Adult</subject><ispartof>American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3098-3105</ispartof><rights>2016 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4359-e53c120b39e2b62bbeeffd3c1dc0ec0293f952a8f670d6f426d87535027dab413</citedby><cites>FETCH-LOGICAL-c4359-e53c120b39e2b62bbeeffd3c1dc0ec0293f952a8f670d6f426d87535027dab413</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.a.37879$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.37879$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27605215$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sharr, Christianne</creatorcontrib><creatorcontrib>Lavigne, Jenifer</creatorcontrib><creatorcontrib>Elsharkawi, Ibrahim M. A.</creatorcontrib><creatorcontrib>Ozonoff, Al</creatorcontrib><creatorcontrib>Baumer, Nicole</creatorcontrib><creatorcontrib>Brasington, Campbell</creatorcontrib><creatorcontrib>Cannon, Sheila</creatorcontrib><creatorcontrib>Crissman, Blythe</creatorcontrib><creatorcontrib>Davidson, Emily</creatorcontrib><creatorcontrib>Florez, Jose C.</creatorcontrib><creatorcontrib>Kishnani, Priya</creatorcontrib><creatorcontrib>Lombardo, Angela</creatorcontrib><creatorcontrib>Lyerly, Jordan</creatorcontrib><creatorcontrib>McDonough, Mary Ellen</creatorcontrib><creatorcontrib>Schwartz, Alison</creatorcontrib><creatorcontrib>Berrier, Kathryn L.</creatorcontrib><creatorcontrib>Sparks, Susan</creatorcontrib><creatorcontrib>Stock-Guild, Kara</creatorcontrib><creatorcontrib>Toler, Tomi L.</creatorcontrib><creatorcontrib>Vellody, Kishore</creatorcontrib><creatorcontrib>Voelz, Lauren</creatorcontrib><creatorcontrib>Skotko, Brian G.</creatorcontrib><title>Detecting celiac disease in patients with Down syndrome</title><title>American journal of medical genetics. Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>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.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biopsy</subject><subject>celiac disease</subject><subject>Celiac Disease - complications</subject><subject>Celiac Disease - diagnosis</subject><subject>Celiac Disease - physiopathology</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Down syndrome</subject><subject>Down Syndrome - complications</subject><subject>Down Syndrome - diagnosis</subject><subject>Down Syndrome - physiopathology</subject><subject>Female</subject><subject>Genetic Counseling</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>patient database</subject><subject>registry</subject><subject>Trisomy 21</subject><subject>Young Adult</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqN0M1PwjAYBvDGaATRm2ezxIsHh_1Y1-1IQFCCGI0fx6bb3mFxH7huQf57BwMOHoynNs3vfdL3Qeic4C7BmN6oeTrrqi4TnvAPUJtwTm3HY-xwf6e8hU6MmWPMMBfuMWpR4WJOCW8jMYASwlJnMyuERKvQirQBZcDSmbVQpYasNNZSlx_WIF9mllllUZGncIqOYpUYONueHfQ6vH3p39mTx9F9vzexQ4dx3wbOQkJxwHyggUuDACCOo_otCjGEmPos9jlVXuwKHLmxQ93IE5xxTEWkAoewDrpqchdF_lWBKWWqTf3TRGWQV0YSj2MhPIr9f1CHCN8RDNf08hed51WR1YusVU2ot1HXjQqL3JgCYrkodKqKlSRYrruX6-6lkpvua36xDa2CFKI93pVdA6cBS53A6s8w2Rs_jHq7XLsZ06aE7_2YKj6lK5jg8n06ktNnPpyO-Zt8Yj_dQp1q</recordid><startdate>201612</startdate><enddate>201612</enddate><creator>Sharr, Christianne</creator><creator>Lavigne, Jenifer</creator><creator>Elsharkawi, Ibrahim M. A.</creator><creator>Ozonoff, Al</creator><creator>Baumer, Nicole</creator><creator>Brasington, Campbell</creator><creator>Cannon, Sheila</creator><creator>Crissman, Blythe</creator><creator>Davidson, Emily</creator><creator>Florez, Jose C.</creator><creator>Kishnani, Priya</creator><creator>Lombardo, Angela</creator><creator>Lyerly, Jordan</creator><creator>McDonough, Mary Ellen</creator><creator>Schwartz, Alison</creator><creator>Berrier, Kathryn L.</creator><creator>Sparks, Susan</creator><creator>Stock-Guild, Kara</creator><creator>Toler, Tomi L.</creator><creator>Vellody, Kishore</creator><creator>Voelz, Lauren</creator><creator>Skotko, Brian G.</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201612</creationdate><title>Detecting celiac disease in patients with Down syndrome</title><author>Sharr, Christianne ; Lavigne, Jenifer ; Elsharkawi, Ibrahim M. A. ; Ozonoff, Al ; Baumer, Nicole ; Brasington, Campbell ; Cannon, Sheila ; Crissman, Blythe ; Davidson, Emily ; Florez, Jose C. ; Kishnani, Priya ; Lombardo, Angela ; Lyerly, Jordan ; McDonough, Mary Ellen ; Schwartz, Alison ; Berrier, Kathryn L. ; Sparks, Susan ; Stock-Guild, Kara ; Toler, Tomi L. ; Vellody, Kishore ; Voelz, Lauren ; Skotko, Brian G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4359-e53c120b39e2b62bbeeffd3c1dc0ec0293f952a8f670d6f426d87535027dab413</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biopsy</topic><topic>celiac disease</topic><topic>Celiac Disease - complications</topic><topic>Celiac Disease - diagnosis</topic><topic>Celiac Disease - physiopathology</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Down syndrome</topic><topic>Down Syndrome - complications</topic><topic>Down Syndrome - diagnosis</topic><topic>Down Syndrome - physiopathology</topic><topic>Female</topic><topic>Genetic Counseling</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>patient database</topic><topic>registry</topic><topic>Trisomy 21</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sharr, Christianne</creatorcontrib><creatorcontrib>Lavigne, Jenifer</creatorcontrib><creatorcontrib>Elsharkawi, Ibrahim M. A.</creatorcontrib><creatorcontrib>Ozonoff, Al</creatorcontrib><creatorcontrib>Baumer, Nicole</creatorcontrib><creatorcontrib>Brasington, Campbell</creatorcontrib><creatorcontrib>Cannon, Sheila</creatorcontrib><creatorcontrib>Crissman, Blythe</creatorcontrib><creatorcontrib>Davidson, Emily</creatorcontrib><creatorcontrib>Florez, Jose C.</creatorcontrib><creatorcontrib>Kishnani, Priya</creatorcontrib><creatorcontrib>Lombardo, Angela</creatorcontrib><creatorcontrib>Lyerly, Jordan</creatorcontrib><creatorcontrib>McDonough, Mary Ellen</creatorcontrib><creatorcontrib>Schwartz, Alison</creatorcontrib><creatorcontrib>Berrier, Kathryn L.</creatorcontrib><creatorcontrib>Sparks, Susan</creatorcontrib><creatorcontrib>Stock-Guild, Kara</creatorcontrib><creatorcontrib>Toler, Tomi L.</creatorcontrib><creatorcontrib>Vellody, Kishore</creatorcontrib><creatorcontrib>Voelz, Lauren</creatorcontrib><creatorcontrib>Skotko, Brian G.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sharr, Christianne</au><au>Lavigne, Jenifer</au><au>Elsharkawi, Ibrahim M. A.</au><au>Ozonoff, Al</au><au>Baumer, Nicole</au><au>Brasington, Campbell</au><au>Cannon, Sheila</au><au>Crissman, Blythe</au><au>Davidson, Emily</au><au>Florez, Jose C.</au><au>Kishnani, Priya</au><au>Lombardo, Angela</au><au>Lyerly, Jordan</au><au>McDonough, Mary Ellen</au><au>Schwartz, Alison</au><au>Berrier, Kathryn L.</au><au>Sparks, Susan</au><au>Stock-Guild, Kara</au><au>Toler, Tomi L.</au><au>Vellody, Kishore</au><au>Voelz, Lauren</au><au>Skotko, Brian G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detecting celiac disease in patients with Down syndrome</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2016-12</date><risdate>2016</risdate><volume>170A</volume><issue>12</issue><spage>3098</spage><epage>3105</epage><pages>3098-3105</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><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. © 2016 Wiley Periodicals, Inc.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>27605215</pmid><doi>10.1002/ajmg.a.37879</doi><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3098-3105 |
| issn | 1552-4825 1552-4833 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1850778209 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adolescent Adult Biopsy celiac disease Celiac Disease - complications Celiac Disease - diagnosis Celiac Disease - physiopathology Child Child, Preschool Down syndrome Down Syndrome - complications Down Syndrome - diagnosis Down Syndrome - physiopathology Female Genetic Counseling Humans Infant Infant, Newborn Male patient database registry Trisomy 21 Young Adult |
| title | Detecting celiac disease in patients with Down syndrome |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-07T05%3A07%3A03IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Detecting%20celiac%20disease%20in%20patients%20with%20Down%20syndrome&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20A&rft.au=Sharr,%20Christianne&rft.date=2016-12&rft.volume=170A&rft.issue=12&rft.spage=3098&rft.epage=3105&rft.pages=3098-3105&rft.issn=1552-4825&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.37879&rft_dat=%3Cproquest_cross%3E4265631871%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1844732830&rft_id=info:pmid/27605215&rfr_iscdi=true |