Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study

Abstract

Objectives: To explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome (RTT). Methods:Retrospective observational data of those with confirmed MECP2 mutations in the InterRett database (n = 216) were used to investigate experience of parafunctional habits, and bruxism and their relationships with genotype and snoring using multivariable linear regression. Results:The prevalence of parafunction was 98.2%. Bruxism was reported (66.2%) with the patterns mostly both diurnal and nocturnal (44.1%) and exclusively diurnal (42.7%). Compared to individuals with C-terminal deletion, individuals with p.Arg106Trp mutations were less likely to have bruxism reported (aOR = 0.15; 95% CI 0.02-0.98, p = 0.05) and those with p.Arg168* mutation were more likely to have frequent bruxism than none or occasional bruxism reported (aROR 3.4; 95% CI 1.1-10.7 p = 0.04). The relative odds of having nocturnal bruxism constantly, compared to none/occasionally, were higher among those 'always' snoring (aROR 6.24; 95% CI 2.1-18.2, p = 0.001) than those with no snoring.Conclusions: There appeared to be genotypic association with bruxism in p.Arg168* and p.Arg106Trp mutations and association between nocturnal bruxism and frequent snoring in an international sample of individuals with RTT. Clinical significance of the high prevalence of bruxism should be highlighted in relation to difficulty communicating pain and increased dental treatment need in RTT.

Sleep bruxism, awake bruxism, or both? The importance of their complete reporting and diagnosis

“…Bruxism has been an important topic in recent publications in the Oral Diseases journal testing, particularly its association with genetic polymorphisms and bruxism (Nicot et al, 2021), genotype and snoring in individuals with Rett syndrome (RTT) (Lai et al, 2021), as well as bruxism prevalence in a population-based survey (Fehlberg et al, 2021). The criteria to diagnose bruxism have been established in a recent publication with the following recommendations: (a) "possible" sleep/awake bruxism based on a positive self-report only, (b) "probable" sleep/awake bruxism based on a positive clinical inspection, with or without a positive self-report, and (c) "definite" sleep/ awake bruxism based on a positive instrumental assessment, with or without a positive self-report and/or a positive clinical inspection (Lobbezoo et al, 2018).…”

“…In the referred publications, one described the bruxism diagnosis as "probable" bruxism using self-reporting and clinical examination, but without specifying whether it was sleep or awake bruxism, or both (Nicot et al, 2021). Another publication did classify the time of the day when the bruxism was present (i.e., night, day, or both day and night) and frequency, but it did not specify the precision of the diagnosis itself as "possible" only, considering that only selfreporting was used (Lai et al, 2021). The last referred study did specify the bruxism diagnosis was "possible" based on self-reporting, but it did not specify whether it was sleep or awake bruxism, or both (Fehlberg et al, 2021).…”

Worldwide panorama of bruxism and patients with disabilities: a bibliometric analysis in PubMed (1965-2021)

“…In adults, the prevalence of SB varies from 8.0 to 31.4%, while AB ranged from 22.1 to 31% . Regarding patients with cognitive impairment, it was proven by several studies that bruxism is more prevalent in this population (varying from 42.0 to 74.0%) (López-Pérez et al, 2007;Lai et al, 2021;Cabrita et al, 2022) and also can be associated to use of drugs with central effects (Ortega et al, 2014).…”

Enablers and barriers in dental attendance in Rett syndrome: an international observational study

“…24 Diurnal bruxism is the most frequently reported oral presentation, 25,26 and there are various management approaches reported in the published literature in RTT, ranging from tooth restorations for worn or fractured tooth structure to more novel approaches such as bite planes and even acupuncture. 24 While bruxism in RTT has been explored and some studies of the overall oral health experiences of those with RTT have been completed, including oral disease incidence, type and modality of treatment received, 25,[27][28][29] little is known regarding barriers faced by individuals with RTT for accessing timely and appropriate oral health care. An Australian population-based retrospective study 27 found that dental extractions were more likely to have occurred in individuals with RTT living at home in households with a low annual household income.…”

“…While bruxism in RTT has been explored and some studies of the overall oral health experiences of those with RTT have been completed, including oral disease incidence, type and modality of treatment received, 25 , 27 , 28 , 29 little is known regarding barriers faced by individuals with RTT for accessing timely and appropriate oral health care. An Australian population‐based retrospective study 27 found that dental extractions were more likely to have occurred in individuals with RTT living at home in households with a low annual household income.…”