Related Experiment Video
Updated: Jun 13, 2026

Isolation of Tonsillar Mononuclear Cells to Study Ex Vivo Innate Immune Responses in a Human Mucosal Lymphoid Tissue
Published on: June 14, 2020
Altered Tonsillar Microbiome in Children with Down Syndrome and Obstructive Sleep Apnea
1Department of Pediatric Hematology, Oncology and Bone Marrow Transplant, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, 80045, USA.
Insights
Children with Down syndrome (DS) and obstructive sleep apnea (OSA) have a distinct tonsillar microbiome. Specific bacteria like Haemophilus were depleted, while others like Staphylococcus were enriched, offering insights into OSA mechanisms in DS.
Area of Science:
- Microbiome Research
- Genetics and Disease
- Sleep Medicine
Background:
- Children with Down syndrome (DS) exhibit a high prevalence of obstructive sleep apnea (OSA).
- The role of the tonsillar microbiome in DS-associated OSA is currently unexplored.
- Anatomical, neuromuscular, immunological, and metabolic factors contribute to OSA in DS.
Purpose of the Study:
- To investigate if DS-associated OSA presents a distinct tonsillar microbiome compared to non-DS OSA.
- To identify specific microbial alterations in the tonsils of children with DS and OSA.
Main Methods:
- 16S rRNA sequencing was performed on tonsillar tissue from 22 DS and 18 non-DS (NDS) participants.
- Alpha and beta diversity were assessed using Faith's phylogenetic diversity and UniFrac distances.
- Differential abundance of taxa was identified using ANCOM-BC and Mann-Whitney testing.
Main Results:
- Overall microbial richness and community structure were similar between DS and NDS groups.
- Overweight DS participants showed increased phylogenetic diversity compared to normal-weight DS peers.
- DS tonsils displayed depletion of *Haemophilus* and enrichment of *Staphylococcus*, *Rothia*, and *Lactobacillales*; *Haemophilus* abundance correlated positively with tonsil weight.
Conclusions:
- Specific microbial shifts in the DS tonsillar niche distinguish this population, despite preserved global diversity.
- These microbial differences may reflect altered immune and metabolic environments in trisomy 21.
- Understanding these shifts could elucidate OSA mechanisms in DS and guide targeted therapies.
Background And Objectives:
Children with Down syndrome (DS) have a high prevalence of obstructive sleep apnea (OSA) due to anatomic, neuromuscular, immunological and metabolic factors, yet the contribution of the tonsillar microbiome to airway obstruction in this population remains unexplored. We hypothesized that DS-associated OSA would be associated with a distinct tonsillar microbiome compared to non-DS OSA .
Methods:
Tonsillar tissue from 22 DS and 18 NDS participants were analyzed by 16S rRNA sequencing. Alpha and beta diversity were assessed using Faith's phylogenetic diversity and UniFrac distances, respectively, and significantly different taxa were identified with ANCOM-BC and Mann-Whitney testing.
Results:
Although overall microbial richness and community structure were similar between groups, overweight DS participants demonstrated increased phylogenetic diversity compared to normal-weight DS peers. Taxonomic profiling of the entire patient cohort revealed that in DS tonsils there were selective alterations in key genera with selective depletion of Haemophilus and enrichment of Staphylococcus, Rothia, and Lactobacillales. Haemophilus abundance correlated positively with tonsil weight in both cohorts.
Conclusions:
These findings suggest that while global diversity is preserved, specific microbial shifts distinguish the DS tonsillar niche, potentially reflecting altered immune and metabolic environments associated with trisomy 21. Understanding these microbial differences may reveal mechanisms underlying the higher incidence and persistence of OSA in DS and inform targeted therapeutic strategies.
Related Concept Videos
Tonsillitis I: Introduction
Etiology
Three primary contributing factors have been identified.
Chronic Pharyngitis
Etiology
It often arises from persistent viral or bacterial infections affecting sinuses and tonsils.
Additional contributing factors include inadequate dental hygiene, mouth breathing, recurring tonsillitis, allergic rhinitis, laryngopharyngeal reflux, and exposure to smoke, chemicals, and other environmental pollutants. Allergic reactions to pollen, mold, and pet dander, chronic cough, excessive voice usage,...
Microbiota of the Respiratory Tract
Development of the Oral Microbiota
The Oral Microbiota
Tonsillitis II: Management
