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Abstract：
OBJECTIVE: 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.
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.
摘要：
目的：探索平行功能的模式，磨牙症,及其与Rett综合征（RTT）个体基因型和打鼾的关系。
方法：使用InterRett数据库（n=216）中确认有MECP2突变的患者的回顾性观察数据来调查功能异常习惯的经验，和磨牙症及其与基因型和打鼾的关系使用多变量线性回归。
结果：假肢的患病率为98.2%。据报道（66.2％），主要是昼夜和夜间（44.1％），而仅昼夜（42.7％）。与C端缺失的个体相比，有p.Arg106Trp突变的个体报告磨牙症的可能性较小(aOR=0.15;95%CI0.02-0.98,p=0.05),有p.Arg168*突变的个体比无磨牙症或偶发磨牙症报告的个体更可能出现频繁磨牙症(aROR3.4;95%CI1.1-10.7p=0.04).经常有夜间磨牙症的相对几率，与无/偶尔相比，在“总是”打鼾的人群中（aROR6.24；95%CI2.1-18.2，p=0.001）高于没有打鼾的人群。
结论：在国际RTT个体样本中，p.Arg168*和p.Arg106Trp突变与磨牙症的基因型相关，以及夜间磨牙症和频繁打鼾之间的相关性。应强调磨牙症患病率高的临床意义，这与RTT中难以传达疼痛和牙科治疗需求的增加有关。
方法：使用InterRett数据库（n=216）中确认有MECP2突变的患者的回顾性观察数据来调查功能异常习惯的经验，和磨牙症及其与基因型和打鼾的关系使用多变量线性回归。
结果：假肢的患病率为98.2%。据报道（66.2％），主要是昼夜和夜间（44.1％），而仅昼夜（42.7％）。与C端缺失的个体相比，有p.Arg106Trp突变的个体报告磨牙症的可能性较小(aOR=0.15;95%CI0.02-0.98,p=0.05),有p.Arg168*突变的个体比无磨牙症或偶发磨牙症报告的个体更可能出现频繁磨牙症(aROR3.4;95%CI1.1-10.7p=0.04).经常有夜间磨牙症的相对几率，与无/偶尔相比，在“总是”打鼾的人群中（aROR6.24；95%CI2.1-18.2，p=0.001）高于没有打鼾的人群。
结论：在国际RTT个体样本中，p.Arg168*和p.Arg106Trp突变与磨牙症的基因型相关，以及夜间磨牙症和频繁打鼾之间的相关性。应强调磨牙症患病率高的临床意义，这与RTT中难以传达疼痛和牙科治疗需求的增加有关。
