Abstract

Down syndrome (DS) is a genetic disorder associated with early-onset periodontitis and other periodontal diseases (PDs). The present work aimed to systematically review the scientific literature reporting studies in vivo on oral microbiota features in subjects with DS and related periodontal health and to highlight any correlation and difference with subjects not affected by DS, with and without PDs. PubMed, Web of Science, Scopus and Cochrane were searched for relevant studies in May 2021. The participants were subjects affected by Down syndrome (DS) with and without periodontal diseases; the study compared subjects with periodontal diseases but not affected by DS, and DS without periodontal diseases; the outcomes were the differences in oral microbiota/periodontopathogen bacterial composition among subjects considered; the study design was a systematic review. Study quality was assessed with risk of bias in non-randomized studies of interventions (ROBINS-I). Of the 954 references retrieved, 26 studies were considered. The conclusions from the qualitative assessment of the papers revealed an increasing knowledge over the last years of the microbiota associated with DS and their periodontal diseases, in comparison with healthy subjects and subjects with other kinds of mental disabilities. Few data have emerged on the mycobiome and virobiome of DS, hence, further investigations are still necessary.

Highlights

  • Study): the participants were subjects affected by Down syndrome (DS) with and without periodontal diseases; the intervention was the comparison with subjects with periodontal diseases but not affected by DS, and DS without periodontal diseases; the outcomes were the differences in oral microbiota/periodontopathogen bacterial composition among subjects considered; the study design was a systematic review

  • The present systematic review aimed to report and describe the pieces of evidence in the scientific literature about the possible peculiarities of the oral microbiota of subjects affected by Down syndrome, with and without periodontal diseases, and compare the data with healthy subjects not affected by DS

  • The choice to perform the search without year limitations in the last decades was for “historical purposes”: thanks to this criterium, it has been possible to follow the storyline of the discoveries focusing on periodontal diseases in DS, and to understand how, from a culture-based to a culture-independent approach, substantial signs of progress of knowledge about, the species and their variants, can contribute to better understand the peculiarities of the DS microbiome

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Summary

Introduction

Down syndrome (DS) is an autosomal genetic disorder resulting from an extra 21st chromosome (trisomy 21) [1]. DS is the most common human aneuploidy compatible with life and its estimated prevalence is between 1 per 800–1100 live births worldwide, and is associated with advanced maternal age [2,3]. Persons with DS are characterized by generalized growth deficiencies, mild to severe cognitive development, congenital cardiac defects, and are predisposed to suffer leukemia hypertension, gastrointestinal problems and early onset of Alzheimer’s disease [4]. The most suggestive dermatological manifestations include alopecia areata, palmoplantar hyperkeratosis and premature hair greying and ageing [5]. The typical facial features are as brachycephaly, flat nasal bridge, epicanthic fold, narrowed and slanted eye slits, cataracts, defects of vision and strabismus

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