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Genes Aug 2023Over the last 20 years, the understanding and natural history of Rett syndrome has advanced, but to date no cure has emerged, with multidisciplinary management being... (Review)
Review
Over the last 20 years, the understanding and natural history of Rett syndrome has advanced, but to date no cure has emerged, with multidisciplinary management being symptomatic and supportive. This study provides a comprehensive review of the clinical features, comorbidities and multidisciplinary management of a well-characterized cohort of females with classical Rett syndrome. We aim to improve awareness and understanding of Rett syndrome amongst pediatricians, pediatric subspecialists and allied health professionals to enable early diagnosis and a streamlined enrolment approach for future clinical trials. Rett syndrome, a complex X-linked condition, affecting mainly females, is due to pathogenic variants of the gene in most affected individuals. The Rett syndrome Multidisciplinary Management clinic at The Children's Hospital at Westmead, Sydney, Australia, was established in 2000. This retrospective analysis of individuals who attended the clinic from 2000 to 2020 was performed to identify the incidence and predicted age of onset of Rett syndrome related comorbidities, disease progression and to review management principles. Data collected included age of Rett syndrome diagnosis, genotype, clinical features and medical comorbidities, such as sleep disturbance, seizures, breathing irregularities, scoliosis, mobility, hand stereotypies, hand function, constipation, feeding ability, use of gastrostomy, communication skills, QTc prolongation, anthropometry, and bruxism. Analysis of 103 girls who fulfilled the clinical diagnostic criteria for classical Rett syndrome with a pathogenic variant of the gene showed a median age of diagnosis of 3 years. The most frequent variant was c.502 C>T.
Topics: Female; Humans; Child; Child, Preschool; Male; Rett Syndrome; Retrospective Studies; Scoliosis; Constipation; Seizures
PubMed: 37628658
DOI: 10.3390/genes14081607 -
European Journal of Paediatric Dentistry Sep 2023Bruxism is a repetitive masticatory muscles activity whose definition is being thoroughly reviewed in recent years. As in adults, two different forms of bruxism exist in... (Review)
Review
BACKGROUND
Bruxism is a repetitive masticatory muscles activity whose definition is being thoroughly reviewed in recent years. As in adults, two different forms of bruxism exist in children, namely awake and sleep bruxism. Scarcity of data, however,still persists about paediatric bruxism and no clear consensus has been developed. Therefore, the current review overviews the literature on bruxism in children tries to outline the state of art about this condition METHODS: Bruxism affects from 5% to 50% of the worldwide paediatric population. Sleep disturbances, parafunctional habits and psycho-social factors emerged to be the most likely associated factors with paediatric bruxism. Bruxism is characterised by several signs and symptoms variously combined, such as tooth wear and fractures, teeth impressions on soft tissues, temporomandibular disorders, headaches, behavioural and sleep disorders. About diagnosis, the most reliable tool in children remains the report of teeth grinding by parents or caregivers which must be accompanied by oral interview and accurate clinical examination. Electromyography and sleep polysomnography, albeit suitable in the diagnostic process, are not easy-to-use in children and are not strongly recommended. Currently, no evidence exists to support any kind of therapeutic options for bruxism in children. Management should be based on the identification of the underlying condition and conservative approaches are recommendable.
CONCLUSION
Notwithstanding the high prevalence, several aspects need to be further assessed in paediatric bruxism. Parental reports are still the most suitable diagnostic tool and conservative approaches are recommended in the management. Bruxism should be considered through a biopsychosocial model, and sleep, personality traits, stress and headaches are the factors towards whom research questions must be addressed to improve diagnosis and management.
Topics: Adult; Humans; Child; Bruxism; Electromyography; Headache; Parents; Temporomandibular Joint Disorders
PubMed: 37668461
DOI: 10.23804/ejpd.2023.24.03.02 -
Journal of Clinical Medicine Jul 2023Botulinum toxin (BTA) is a bacterial-derived extract that can inhibit muscle contraction, acting directly on the absorption of acetylcholine. Thanks to this property,... (Review)
Review
Botulinum toxin (BTA) is a bacterial-derived extract that can inhibit muscle contraction, acting directly on the absorption of acetylcholine. Thanks to this property, botulinum has been used in aesthetic and general medicine for several years. Nowadays, the use of botulinum toxin is being deepened to address the problem of bruxism. In this scoping review, the results of the studies in the literature of the last 10 years were analyzed. Indeed, 12 reports (found on PubMed, Web of Science, and Scopus, entering the keywords "BRUXISM" and "BOTULINUM TOXIN") were deemed eligible for inclusion in this review. In the studies reviewed, BTA was injected into different muscle groups: masseters, masseter and temporalis or masseter, temporalis, and medial pterygoid. Botulinum toxin injection is a viable therapeutic solution, especially in patients with poor compliance or without improvement in conventional treatment.
PubMed: 37510701
DOI: 10.3390/jcm12144586 -
Frontiers in Neurology 2023
PubMed: 38357292
DOI: 10.3389/fneur.2023.1331275 -
Sleep Science (Sao Paulo, Brazil) Sep 2023Sleep Bruxism (SB) is a common condition in childhood that can cause multiple consequences such as abnormal tooth wear, tensional headaches, masticatory muscle pain,... (Review)
Review
Sleep Bruxism (SB) is a common condition in childhood that can cause multiple consequences such as abnormal tooth wear, tensional headaches, masticatory muscle pain, or fatigue. The literature reports some interventions, however the treatment for SB in children is not well-established. A systematic review was performed to investigate the effectiveness of the treatments described for SB in children and adolescents: pharmacological and psychological treatments; behavioral guidelines; and dental approaches. Randomized clinical trials comparing different SB treatments with a control group were searched in the electronic databases PubMed, Scopus, Web of Science, Cochrane Library, and VHL until August 04, 2021. Two independent reviewers selected the studies, extracted the data, and assessed the risk of bias. After a two-phase selection process, 07 articles were selected. The methodology of the selected studies was analyzed using the Cochrane Risk of Bias Tool. The criteria used to qualify the studies were based on randomization, allocation, blinding of participants and evaluators, and analysis of results. The signs and symptoms of SB were reduced with pharmacotherapy (hydroxyzine/diazepam) and medicinal extracts ( ), but with occlusal splints and physiotherapy, this improvement was not statistically significant when compared to control groups. Some evidence of the efficacy of pharmacotherapy (hydroxyzine/diazepam) and medicinal extracts ( ) was found. However, this systematic review is not enough to establish a protocol for the treatment of SB. Besides, the individualized management of SB in this population should be considered, emphasizing the management of risk factors.
PubMed: 38196770
DOI: 10.1055/s-0043-1772826 -
Genetic analysis of probable sleep bruxism and its associations with clinical and behavioral traits.Sleep Oct 2023Sleep bruxism (SB) can cause damage on teeth, headache and severe pain affecting both sleep and daily functioning. Yet despite the growing interest into bruxism, the...
STUDY OBJECTIVES
Sleep bruxism (SB) can cause damage on teeth, headache and severe pain affecting both sleep and daily functioning. Yet despite the growing interest into bruxism, the underlying clinically relevant biological mechanisms remain unresolved. The aim of our study was to understand biological mechanisms and clinical correlates of SB including previously reported disease associations.
METHODS
We used data from the FinnGen release R9 (N = 377 277 individuals) that are linked with Finnish hospital and primary care registries. We identified 12 297 (3.26%) individuals with International Classification of Diseases (ICD)-10 codes used for SB. In addition, we used logistic regression to examine the association between probable SB and its clinically diagnosed risk factors and comorbidities using ICD-10 codes. Furthermore, we examined medication purchases using prescription registry. Finally, we performed the first genome-wide association analysis for probable SB and computed genetic correlations using questionnaire, lifestyle, and clinical traits.
RESULTS
The genome-wide association analysis revealed one significant association: rs10193179 intronic to Myosin IIIB (MYO3B) gene. In addition, we observed phenotypic associations and high genetic correlations with pain diagnoses, sleep apnea, reflux disease, upper respiratory diseases, psychiatric traits, and also their related medications such as antidepressants and sleep medication (p < 1e-4 for each trait).
CONCLUSIONS
Our study provides a large-scale genetic framework to understand risk factors for SB and suggests potential biological mechanisms. Furthermore, our work strengthens the important earlier work that highlights SB as a trait that is associated with multiple axes of health. As part of this study, we provide genome-wide summary statistics that we hope will be useful for the scientific community studying SB.
PubMed: 37140068
DOI: 10.1093/sleep/zsad107