Features of Celiac Disease in children and adolescents with Down syndrome: a single-center experience of annual screening
IntroductionCoeliac disease (CD) manifests more frequently in individuals with Down syndrome (DS) and its prevalence varies across different studies. This study aims to assess the prevalence of CD in children with DS and to describe their clinical, serological, and histological features. A secondary...
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Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1595256/full |
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| author | Martina Lattuada Paola Rebora Paola Rebora Chiara Fossati Alessandra Lazzerotti Lucia Paolini Alessandro Cattoni Alessandro Cattoni Roberto Panceri Maria Grazia Valsecchi Maria Grazia Valsecchi Andrea Biondi Andrea Biondi Giovanna Zuin |
| author_facet | Martina Lattuada Paola Rebora Paola Rebora Chiara Fossati Alessandra Lazzerotti Lucia Paolini Alessandro Cattoni Alessandro Cattoni Roberto Panceri Maria Grazia Valsecchi Maria Grazia Valsecchi Andrea Biondi Andrea Biondi Giovanna Zuin |
| author_sort | Martina Lattuada |
| collection | DOAJ |
| description | IntroductionCoeliac disease (CD) manifests more frequently in individuals with Down syndrome (DS) and its prevalence varies across different studies. This study aims to assess the prevalence of CD in children with DS and to describe their clinical, serological, and histological features. A secondary aim was to analyze the time needed for the normalization of anti-transglutaminase IgA (TGA-IgA) and anti-endomysium IgA (EMA-IgA) levels in DS compared to non-syndromic (NS) children.Materials and methodsThis retrospective monocentric cohort study included patients with DS under 18 years of age, diagnosed with CD between 2005 and 2022. Each DS patient was matched for year of birth and sex with two NS celiac children. Follow-up was 6-, 12- and 24-months post-diagnosis.ResultsThe prevalence of CD in 770 children with DS was 7.5% (95% CI: 5.8%–9.6%). 57 children with CD and DS were compared with 114 CD NS matched controls (total sample size = 171). DS demonstrated less symptoms than 114 NS CD children (26% vs. 79%, P < 0.001). In the CD DS group 81% had anti-TGA levels 10 times higher the upper limit of normal, compared to 72% in the control group. Among patients with CD and DS, 93% had histological damage equal to 3rd grade of Marsh-Oberhuber classification at diagnosis. The velocity of normalization of anti-TGA was higher in patients without DS (P = 0.005).DiscussionThis study reinforces the higher prevalence of CD in DS, emphasizing the necessity for routine screening, even in asymptomatic individuals. Despite less symptomatic presentation, patients with DS exhibited elevated antibody levels and severe histological damage. Clinicians should expect a prolonged time for antibody normalization following gluten-free diet in DS, mirroring potential challenges in diet adherence and altered immune responses. |
| format | Article |
| id | doaj-art-b93abc25dca74ef39080088087c78aa3 |
| institution | DOAJ |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-b93abc25dca74ef39080088087c78aa32025-08-20T03:13:22ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-07-011310.3389/fped.2025.15952561595256Features of Celiac Disease in children and adolescents with Down syndrome: a single-center experience of annual screeningMartina Lattuada0Paola Rebora1Paola Rebora2Chiara Fossati3Alessandra Lazzerotti4Lucia Paolini5Alessandro Cattoni6Alessandro Cattoni7Roberto Panceri8Maria Grazia Valsecchi9Maria Grazia Valsecchi10Andrea Biondi11Andrea Biondi12Giovanna Zuin13School of Medicine and Surgery, University of Milano-Bicocca, Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, Monza, ItalyBiostatistics and Clinical Epidemiology, Fondazione IRCCS San Gerardo dei Tintori, Monza, ItalyPediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, ItalyPediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, Monza, ItalyPediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, ItalyPediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, Monza, ItalyBiostatistics and Clinical Epidemiology, Fondazione IRCCS San Gerardo dei Tintori, Monza, ItalySchool of Medicine and Surgery, University of Milano-Bicocca, Monza, ItalyPediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, ItalyPediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, ItalyIntroductionCoeliac disease (CD) manifests more frequently in individuals with Down syndrome (DS) and its prevalence varies across different studies. This study aims to assess the prevalence of CD in children with DS and to describe their clinical, serological, and histological features. A secondary aim was to analyze the time needed for the normalization of anti-transglutaminase IgA (TGA-IgA) and anti-endomysium IgA (EMA-IgA) levels in DS compared to non-syndromic (NS) children.Materials and methodsThis retrospective monocentric cohort study included patients with DS under 18 years of age, diagnosed with CD between 2005 and 2022. Each DS patient was matched for year of birth and sex with two NS celiac children. Follow-up was 6-, 12- and 24-months post-diagnosis.ResultsThe prevalence of CD in 770 children with DS was 7.5% (95% CI: 5.8%–9.6%). 57 children with CD and DS were compared with 114 CD NS matched controls (total sample size = 171). DS demonstrated less symptoms than 114 NS CD children (26% vs. 79%, P < 0.001). In the CD DS group 81% had anti-TGA levels 10 times higher the upper limit of normal, compared to 72% in the control group. Among patients with CD and DS, 93% had histological damage equal to 3rd grade of Marsh-Oberhuber classification at diagnosis. The velocity of normalization of anti-TGA was higher in patients without DS (P = 0.005).DiscussionThis study reinforces the higher prevalence of CD in DS, emphasizing the necessity for routine screening, even in asymptomatic individuals. Despite less symptomatic presentation, patients with DS exhibited elevated antibody levels and severe histological damage. Clinicians should expect a prolonged time for antibody normalization following gluten-free diet in DS, mirroring potential challenges in diet adherence and altered immune responses.https://www.frontiersin.org/articles/10.3389/fped.2025.1595256/fullDown syndromeCeliac Diseasechildrenscreeninganti-transglutaminase antibodiesanti-endomysium antibodies |
| spellingShingle | Martina Lattuada Paola Rebora Paola Rebora Chiara Fossati Alessandra Lazzerotti Lucia Paolini Alessandro Cattoni Alessandro Cattoni Roberto Panceri Maria Grazia Valsecchi Maria Grazia Valsecchi Andrea Biondi Andrea Biondi Giovanna Zuin Features of Celiac Disease in children and adolescents with Down syndrome: a single-center experience of annual screening Frontiers in Pediatrics Down syndrome Celiac Disease children screening anti-transglutaminase antibodies anti-endomysium antibodies |
| title | Features of Celiac Disease in children and adolescents with Down syndrome: a single-center experience of annual screening |
| title_full | Features of Celiac Disease in children and adolescents with Down syndrome: a single-center experience of annual screening |
| title_fullStr | Features of Celiac Disease in children and adolescents with Down syndrome: a single-center experience of annual screening |
| title_full_unstemmed | Features of Celiac Disease in children and adolescents with Down syndrome: a single-center experience of annual screening |
| title_short | Features of Celiac Disease in children and adolescents with Down syndrome: a single-center experience of annual screening |
| title_sort | features of celiac disease in children and adolescents with down syndrome a single center experience of annual screening |
| topic | Down syndrome Celiac Disease children screening anti-transglutaminase antibodies anti-endomysium antibodies |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1595256/full |
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