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...

Full description

Saved in:
Bibliographic Details
Main Authors: Martina Lattuada, Paola Rebora, Chiara Fossati, Alessandra Lazzerotti, Lucia Paolini, Alessandro Cattoni, Roberto Panceri, Maria Grazia Valsecchi, Andrea Biondi, Giovanna Zuin
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Pediatrics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1595256/full
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849715449385713664
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
work_keys_str_mv AT martinalattuada featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening
AT paolarebora featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening
AT paolarebora featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening
AT chiarafossati featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening
AT alessandralazzerotti featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening
AT luciapaolini featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening
AT alessandrocattoni featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening
AT alessandrocattoni featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening
AT robertopanceri featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening
AT mariagraziavalsecchi featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening
AT mariagraziavalsecchi featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening
AT andreabiondi featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening
AT andreabiondi featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening
AT giovannazuin featuresofceliacdiseaseinchildrenandadolescentswithdownsyndromeasinglecenterexperienceofannualscreening