A system for assessing the severity of mucositis in patients undergoing bone marrow transplantation (BMT) is presented. Ten criteria were graded to give component scores together with a total score. The overall severity score ranged from 0 through 21. Scores were assigned three times daily by nursing staff members and verified daily by the attending dental and medical practitioners. Total scores were highly reproducible and were related to the severity of neutropenia. Variation between sequential total scores was not related to interexaminer variation but rather to changes in the severity of oral mucositis. Component scores provided a useful means for transmitting oral health information between health care personnel. Total scores were used to regulate the nature and frequency of oral hygiene procedures for patients undergoing BMT as well as other hematology/oncology patients. Application of this oral assessment system to other institutional settings may be beneficial.
AbstractIntroductionOral health therapists (OHTs) are a valuable resource for increasing access to dental care for the frail elderly in nursing homes (NHs). However, OHTs face several barriers and their skill‐set continues to be under‐utilized.AimsTo evaluate the perceptions of OHTs regarding the barriers towards oral care provision for the elderly residents in NHs.MethodologySemi‐structured interviews were conducted with 11 OHTs to discuss the factors that may hinder them from providing oral health services in NHs. An inductive thematic analysis directed by the grounded theory approach was performed.ResultsFour major themes emerged: (i) lack of opportunity, (ii) lack of adequate education and training, (iii) limited work scope and registration status, and (iv) lack of adequate financial remuneration and adequate equipment. OHTs also raised the lack of awareness among OHTs and the various stakeholders, of how the skill‐set of OHTs may be relevant for oral care provision in NHs.ConclusionFindings revealed underlying educational and regulatory barriers which need to be addressed in tandem. Addressing these barriers can be impactful in informing future strategies for the greater utilization of the skill‐set of OHTs in Singapore.
AbstractAimsIntellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with (RTT), and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety.Methods and resultsRetrospective observational data of a subset of individuals with confirmed MECP2 mutations in the InterRett database (n = 216) were used to explore caregiver‐related factors and their relationships with longitudinal data on dental service utilisation, using negative binomial regression. The main reported barriers to dental care access for individuals with RTT were primarily dentist‐related in nature, regardless of dental service history. Those with reported dental nonattendance were of older age. Increasing levels of caregiver‐reported dental fear were associated with less frequent dental check‐ups or for any appointments for affected individuals.ConclusionsDentist‐related barriers and caregiver‐reported anxiety may both adversely affect dental attendance for those with RTT. Future research should explore caregivers' beliefs and oral health literacy.
AbstractIntroductionOral health therapists (OHTs) have the potential to increase the access to oral care for elderly residents in nursing homes (NHs).AimsTo evaluate the perceptions of NH staff and OHTs regarding the barriers and enablers toward oral care provision for elderly NH residents, and their perceptions toward interprofessional collaboration through the utilization of OHTs in NHs.MethodologyElectronic surveys were completed by 231 direct care and 15 managerial staff from 15 NHs, and 103 OHTs. Factors influencing oral care provision, and aspects of awareness, capabilities, and willingness/interest toward collaboration were evaluated.ResultsThe OHTs and NH staff reported mutually positive responses toward interprofessional collaboration. The most frequently reported barriers by the NH staff were the lack of regular support from dental health professionals and inadequate knowledge and skills. The OHTs expressed willingness and competence in assisting the NH staff, but lacked regulatory and educational support.ConclusionOHTs have the potential to address the barriers faced by the NH staff, if adequately supported through policy and education. Oral health promotion in intermediate and long‐term care sectors should take into account this potential for interprofessional collaboration through greater utilization of the skill‐set of OHTs.
PurposePathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients with (likely) pathogenic SETD1B sequence variants. This study aims to further delineate the spectrum of the SETD1B-related syndrome based on characterizing an expanded patient cohort.MethodsWe perform an in-depth clinical characterization of a cohort of 36 unpublished individuals with SETD1B sequence variants, describing their molecular and phenotypic spectrum. Selected variants were functionally tested using in vitro and genome-wide methylation assays.ResultsOur data present evidence for a loss-of-function mechanism of SETD1B variants, resulting in a core clinical phenotype of global developmental delay, language delay including regression, intellectual disability, autism and other behavioral issues, and variable epilepsy phenotypes. Developmental delay appeared to precede seizure onset, suggesting SETD1B dysfunction impacts physiological neurodevelopment even in the absence of epileptic activity. Males are significantly overrepresented and more severely affected, and we speculate that sex-linked traits could affect susceptibility to penetrance and the clinical spectrum of SETD1B variants.ConclusionInsights from this extensive cohort will facilitate the counseling regarding the molecular and phenotypic landscape of newly diagnosed patients with the SETD1B-related syndrome. ; We thank all patients and families for participation in this study. Part of this research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support. Family 2 was collected as part of the SYNaPS Study Group collaboration funded by The Wellcome Trust and strategic award (Synaptopathies) funding (WT093205 MA and WT104033aIA) and research was conducted as part of the Queen Square Genomics group at University College London, supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. HH is funded by The MRC (MR/S01165X/1, MR/S005021/1, G0601943), The National Institute for Health Research University College London Hospitals Biomedical Research Centre, Rosetree Trust, Ataxia UK, MSA Trust, Brain Research UK, Sparks GOSH Charity, Muscular Dystrophy UK (MDUK), Muscular Dystrophy Association (MDA USA). G.M.M. was supported by Jordan's Guardian Angels, the Brotman Baty Institute, and the Sunderland Foundation. J.R.L. acknowledges support by the Baylor Hopkins Center for Mendelian Genomics funded by the US National Human Genome Research Institute (UM1 HG006542). The DECODE-EE project (Health Research Call 2018, Tuscany Region) provided research funding to R.G. The Epilepsy Society supported this work, with funding to S.M.S. S.M.S. acknowledges that his work was partly carried out at NIHR University College London Hospitals Biomedical Research Centre, which receives a proportion of funding from the UK Department of Health's NIHR Biomedical Research Centres funding scheme. A.J. is supported by Solve-RD. The Solve-RD project has received funding from the European Union's Horizon 2020 research and innovation program under grant agreement number 779257. STA, R.R., K.J.C.L., K.A.P.G., and F.J.G.V. were supported by funding from King Abdullah University of Science and Technology (KAUST) through the baseline fund and award numbers FCC/1/1976-25 and REI/1/4446-01 from the Office of Sponsored Research (OSR). T.S.B.'s lab is supported by the Netherlands Organisation for Scientific Research (ZonMW Veni, grant 91617021), a NARSAD Young Investigator Grant from the Brain & Behavior Research Foundation, an Erasmus MC Fellowship 2017, and Erasmus MC Human Disease Model Award 2018.