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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.
Biorxiv : the Preprint Server for Biology
|June 12, 2026
Summary
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.
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