Reprint of: The Effect of Mineral Trioxide Aggregate Obturation Levels on the Outcome of Endodontic Retreatment: An Observational Study.

INTRODUCTION: No clinical studies have examined the effect of mineral trioxide aggregate (MTA) obturation levels on the outcome of endodontic retreatment. This retrospective study examined treatment outcomes in three cohorts that compared overfilling, flush filling, and underfilling after orthograde retreatment using MTA. METHODS: Two hundred fifty patients with 264 teeth diagnosed with previously treated root canals and apical periodontitis retreated in a private endodontic practice were included. All teeth received MTA obturation and the extent of the final filling level was measured in relation to the major apical foramen. After 6-month follow-ups, all nonhealing cases were treated surgically. After 24- to 72-month reviews, the effect of preoperative lesion size and the degree of MTA obturation level were assessed. Multiple linear regression and time-to-event analysis using Stata 17 software (StataCorp LLC, College Station, TX) were used to evaluate the data. RESULTS: Within the three cohorts, 99 out of 108 overfilled teeth (91.7%), 90 out of 103 flush fills (87.4%), and 10 out of 53 underfilled teeth (18.9%) healed and were successfully retreated without surgery at 48-months. When surgical outcomes were included, the combined healed proportion was 93.2%. Preoperative lesion size was found to be an important predictor for retreatment nonhealing. A 1-mm increase in lesion size at baseline resulted in an estimated 11% (95% CI 1.04, 1.18)-38% (95% CI 1.22, 1.58) increase in the risk of surgery. Compared to overfilling and flush filling, underfilling was associated with an approximately three-fold increase in requiring surgery and characterized by delayed healing. CONCLUSION: MTA obturation is a viable retreatment option for teeth with nonhealing endodontic treatment. MTA overfills or flush fillings do not adversely affect healing outcomes. However, MTA underfilling increases the chances for nonhealing and surgical intervention.

Growth patterns in individuals with CDKL5 deficiency disorder.

AIM: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth. METHOD: The longitudinal study included 353 individuals from the International CDKL5 Disorder Database with any anthropometric measurement in baseline and/or follow-up questionnaires. The British 1990 growth reference was used to determine the age- and sex-standardized z-score. Repeated cross-sectional data were fitted using a Gaussian linear regression model with generalized estimating equations. RESULTS: All growth parameters were below the general population norm (mean z-scores: weight -0.97, height -0.65, body mass index [BMI] -0.81, head circumference -2.12). The disparity was particularly pronounced for all anthropometric measurements after 4 years of age except for BMI. Moreover, individuals with gastrostomy placement were shown to have a larger decrease than those without. INTERPRETATION: In addition to weight, height, and BMI, head circumference was also compromised in this disorder. Microcephaly could be considered a helpful diagnostic feature, especially in adults. Any benefit of gastrostomy on weight and BMI was mainly seen in the early years.

Overweight/obesity and other predictors of gestational diabetes among Aboriginal and non-Aboriginal women in Western Australia.

This population-based study investigated the association of BMI and other predictors with gestational diabetes mellitus (GDM) among Australian Aboriginal and non-Aboriginal mothers. We conducted a state-wide retrospective cohort study that included all singleton births in Western Australia (n = 134,552) between 2012 and 2015 using population health datasets linked by the Western Australian Data Linkage Branch. Associations between GDM and its predictors were estimated as adjusted relative risks (aRRs) from multivariable generalised linear models. Adjusted ratio of relative risks (aRRRs) compared RRs in Aboriginal and non-Aboriginal mothers. Adjusted population attributable fractions estimated the contribution of overweight/obesity to GDM burden, and adjusted predicted probabilities for GDM were plotted against BMI levels. The following predictors had stronger associations with GDM in Aboriginal, compared to non-Aboriginal, mothers: maternal obesity (aRR [95% CI] 3.16 [2.54-3.93]; aRRR 1.57 [1.26-1.94]), previous LGA (aRR 1.70 [1.37-2.12]; aRRR 1.41 [1.13-1.76]) and previous macrosomia (birthweight ≥ 4 kg) (aRR 1.55 [1.24-1.94]; aRRR 1.53 [1.22-1.91]). 46.1% (95% CI: 36.6-54.1) of GDM cases in Aboriginal women (23.3% in non-Aboriginal mothers, 95% CI: 21.6-25.1) were attributed to overweight/obesity. Compared to non-Aboriginal mothers, adjusted GDM probabilities were higher at all BMI levels and showed greater increase with BMI. Overweight/obesity is a key driver of GDM among Aboriginal women. Association between BMI and GDM is stronger in Aboriginal, compared to non-Aboriginal, women especially at higher BMI.

The impact of diabetes during pregnancy on neonatal outcomes among the Aboriginal population in Western Australia: a whole-population study.

BACKGROUND: Aboriginal and Torres Strait Islander (hereafter Aboriginal) women have a high prevalence of diabetes in pregnancy (DIP), which includes pre-gestational diabetes mellitus (PGDM) and gestational diabetes mellitus (GDM). We aimed to characterize the impact of DIP in babies born to Aboriginal mothers. METHODS: A retrospective cohort study, using routinely collected linked health data that included all singleton births (N = 510 761) in Western Australia between 1998 and 2015. Stratified by Aboriginal status, generalized linear mixed models quantified the impact of DIP on neonatal outcomes, estimating relative risks (RRs) with 95% CIs. Ratio of RRs (RRRs) examined whether RRs differed between Aboriginal and non-Aboriginal populations. RESULTS: Exposure to DIP increased the risk of adverse outcomes to a greater extent in Aboriginal babies. PGDM heightened the risk of large for gestational age (LGA) (RR: 4.10, 95% CI: 3.56-4.72; RRR: 1.25, 95% CI: 1.09-1.43), macrosomia (RR: 2.03, 95% CI: 1.67-2.48; RRR: 1.39, 95% CI: 1.14-1.69), shoulder dystocia (RR: 4.51, 95% CI: 3.14-6.49; RRR: 2.19, 95% CI: 1.44-3.33) and major congenital anomalies (RR: 2.14, 95% CI: 1.68-2.74; RRR: 1.62, 95% CI: 1.24-2.10). GDM increased the risk of LGA (RR: 2.63, 95% CI: 2.36-2.94; RRR: 2.00, 95% CI: 1.80-2.22), macrosomia (RR: 1.95, 95% CI: 1.72-2.21; RRR: 2.27, 95% CI: 2.01-2.56) and shoulder dystocia (RR: 2.78, 95% CI: 2.12-3.63; RRR: 2.11, 95% CI: 1.61-2.77). Birthweight mediated about half of the DIP effect on shoulder dystocia only in the Aboriginal babies. CONCLUSIONS: DIP differentially increased the risks of fetal overgrowth, shoulder dystocia and congenital anomalies in Aboriginal babies. Improving care for Aboriginal women with diabetes and further research on preventing shoulder dystocia among these women can reduce the disparities.

Validating the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder.

CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist (CSBS-DP ITC). Caregivers (n = 150; affected individuals aged 1-29 years) completed the CSBS-DP ITC. Distribution of scores indicated a floor effect. There was poor divergent validity for the three-factor model but goodness of fit and convergent validity data were satisfactory for the one-factor model. Individuals with poorer overall functional abilities scored lower on the CSBS-DP ITC. Test-retest reliability was excellent. The floor effect could explain the very high reliability, suggesting problems as a sensitive outcome measure in clinical trials for CDD.

Genotype and sleep independently predict mental health in Rett syndrome: an observational study.

BACKGROUND: Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype. METHODS: The International Rett Syndrome Database, InterRett, was the data source for this observational study. Associations between genotype, functional abilities, comorbidities, anxiety and depression were estimated with univariate and multivariate regression models. An additional regression model for anxiety included use of an anxiety medication as a predictor variable. RESULTS: The sample included 210 individuals aged 6-51 years of whom 54 (25.7%) were on psychotropic medication for anxiety or depression. Individuals with the p.Arg294* variant had the highest anxiety scores, as did those with insomnia or excessive daytime sleepiness, irrespective of anxiety medication use. Individuals with the p.Arg306Cys variant had the lowest depression scores, as did those with insomnia or excessive daytime sleepiness. CONCLUSION: Findings indicated that genotype and sleep have implications for mental health in Rett syndrome, suggesting that anticipatory guidance and proactive management of poor sleep could improve mental health. More research is needed to understand the effects of psychometric medications, which cannot be inferred from this cross-sectional study.

Hospitalizations from Birth to 28 Years in a Population Cohort of Individuals Born with Five Rare Craniofacial Anomalies in Western Australia.

OBJECTIVE: To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies (CFAs). METHODS: Data on livebirths (1983-2010; n = 721 019) including rare CFA (craniofacial microsomia, mandibulofacial dysostosis, Pierre Robin sequence, Van der Woude syndrome, and frontonasal dysplasia), episodes of death, and demographic and perinatal factors were identified from the Western Australian Register of Developmental Anomalies, Death Registrations and Midwives Notification System. Information on incident craniofacial and noncraniofacial related admissions, length of hospital stay, and intensive care and emergency-related admissions were identified using principal diagnosis and procedural codes were extracted from the Hospital Morbidity Data Collection and linked to other data sources. Associations of hospitalizations by age groups as well as demographic and perinatal factors were expressed as incidence rate ratio (IRR). RESULTS: The incident hospitalizations were 3 times as high for rare CFA (IRR 3.22-3.72) throughout childhood into adolescence than those without. Children with rare CFA had 3-4 times as many potentially preventable hospitalizations until 18 years of age than those without. Specifically, respiratory infections (IRR 2.13-2.35), ear infections (IRR 7.92-26.28), and oral health-related conditions contributed for most noncraniofacial admissions until the adolescence period. A greater incidence of noncraniofacial related hospitalizations was observed among Indigenous children, births with intrauterine growth restrictions, and families with high socioeconomic disadvantage. CONCLUSIONS: Throughout childhood, individuals with rare CFA had greater hospital service use, specifically for potentially preventable conditions, than those without. These population-level findings can inform new preventive strategies and early disease management targeted toward reducing preventable hospitalizations.

The Effect of Mineral Trioxide Aggregate Obturation Levels on the Outcome of Endodontic Retreatment: An Observational Study.

INTRODUCTION: No clinical studies have examined the effect of mineral trioxide aggregate (MTA) obturation levels on the outcome of endodontic retreatment. This retrospective study examined treatment outcomes in three cohorts that compared overfilling, flush filling, and underfilling after orthograde retreatment using MTA. METHODS: Two hundred fifty patients with 264 teeth diagnosed with previously treated root canals and apical periodontitis retreated in a private endodontic practice were included. All teeth received MTA obturation and the extent of the final filling level was measured in relation to the major apical foramen. After 6-month follow-ups, all nonhealing cases were treated surgically. After 24- to 72-month reviews, the effect of preoperative lesion size and the degree of MTA obturation level were assessed. Multiple linear regression and time-to-event analysis using Stata 17 software (StataCorp LLC, College Station, TX) were used to evaluate the data. RESULTS: Within the three cohorts, 99 out of 108 overfilled teeth (91.7%), 90 out of 103 flush fills (87.4%), and 10 out of 53 underfilled teeth (18.9%) healed and were successfully retreated without surgery at 48-months. When surgical outcomes were included, the combined healed proportion was 93.2%. Preoperative lesion size was found to be an important predictor for retreatment nonhealing. A 1-mm increase in lesion size at baseline resulted in an estimated 11% (95% CI 1.04, 1.18)-38% (95% CI 1.22, 1.58) increase in the risk of surgery. Compared to overfilling and flush filling, underfilling was associated with an approximately three-fold increase in requiring surgery and characterized by delayed healing. CONCLUSION: MTA obturation is a viable retreatment option for teeth with nonhealing endodontic treatment. MTA overfills or flush fillings do not adversely affect healing outcomes. However, MTA underfilling increases the chances for nonhealing and surgical intervention.

Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based study.

Understanding hospital service use among children with a diagnosis of craniosynostosis (CS) is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia. Data on live births (1990-2010; n = 554,624) including craniosynostosis, episodes of death, demographic, and perinatal factors were identified from the midwives, birth defects, hospitalizations, and death datasets. Information on craniosynostosis and non-craniosynostosis-related admissions, cumulative length of hospital stay (cLoS), intensive care unit, and emergency department-related admissions were extracted from the hospitalization dataset and linked to other data sources. These associations were examined using negative binomial regression presented as annual percent change and associations of hospitalizations by age groups, demographic, and perinatal factors were expressed as incidence rate ratio (IRR). We found an increasing trend in incident hospitalizations but a marginal decline in cLoS for craniosynostosis over the observed study period. Perinatal conditions, feeding difficulties, nervous system anomalies, respiratory, and other infections contributed to majority of infant non-CS-related admissions.Respiratory infections accounted for about twice the number of admissions for individuals with CS (IRRs 1.94-2.34) across all observed age groups. Higher incidence of non-CS hospitalizations was observed among females, with associated anomalies, to families with highest socioeconomic disadvantage and living in remote areas of the state.   Conclusion: Marginal reduction in the cLoS for CS-related admissions observed over the 21-year period are potentially indicative of improved peri-operative care. However, higher incidence of respiratory infection-related admissions for syndromic synostosis is concerning and requires investigation.

Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial.

AIM: To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome (RTT). METHOD: In this multicentre randomized waitlist-controlled trial, we recruited 43 ambulatory individuals with RTT in Australia and Denmark. Adequate baseline data were obtained from 38 participants (mean age 20 years, range 6-41, SD 10 years 6 months, one male). All completed the trial. Participants received 12 weeks of usual care (n = 19) or a goal-based, telehealth-supported programme in which activities occurred in their familiar environments (n = 19). Sedentary time and daily steps were assessed at baseline, post-test, and 12-week follow-up. The data analyst was blinded to group allocation. RESULTS: Sedentary time decreased in the intervention group by 2.7% (95% confidence interval [CI] -6.0 to 0.6) and increased in the control group by 1.3% (95% CI -4.8 to 7.4). Intervention and control groups increased the number of their steps per day by 264.7 (95% CI -72.2 to 601.5) and 104.8 (95% CI -178.1 to 387.7) respectively. No significant differences were found on any outcomes at post-test. There were three minor adverse events. INTERPRETATION: A goal-based telehealth intervention seemed to produce small improvements in physical activity for individuals with RTT. Families require more support to increase these individuals' extremely low physical activity levels. WHAT THIS PAPER ADDS: A telehealth-supported intervention may produce small changes in physical activity in Rett syndrome (RTT). Increasing physical activity in individuals with RTT is challenging for caregivers. Families require substantial out-of-home support to increase their children's activity levels.

Epidemiology of Hospital Admissions for Craniosynostosis in Australia: A Population-Based Study.

To describe trends, age, and sex-specific patterns of population hospital admissions with a diagnosis of craniosynostosis (CS) in Australia.Population data for hospital separations (in-patient) from public and private hospitals (July 1996-June 2018) were obtained from the publicly available Australian Institute of Health and Welfare (AIHW) National Hospital Morbidity Database.The outcome variables were hospital separation rates (HSR) (number of hospital separations divided by the estimated resident population [ERP] per year) and average length of stay (aLOS) (patient days divided by the number of hospital separations) with a diagnosis of CS. Trends in HSR and aLOS adjusted for age, sex, and type of CS were investigated by negative binomial regression presented as annual percent change (APC).In 8057 admissions identified, we observed no significant change in the annual trend for HSR for the 22-year period. However, a marginal annual decrease of 1.6% (95% CI: -0.7, -2.4) in the aLOS was identified for the same time period. HSR were higher for males, infants, and single suture synostosis. aLOS was 3.8 days (95% CI: 3.8, 3.9) per visit, longer for syndromic conditions.There was a minor reduction in the average length of hospital stay for CS over the 22-year period potentially indicative of improved care. Population-level information on hospitalisations for rare craniofacial conditions can inform research, clinical, and surgical practice.

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

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.

Association between disability status and dental attendance patterns in Australian children: A national survey.

OBJECTIVES: This study investigated the dental attendance patterns of Australian children with and without disabilities using data from Growing up in Australia: The Longitudinal Study of Australian Children. METHODS: Data on 6470 participants within two groups (B cohort [aged 12-13]: n = 3381; K cohort [aged 16-17]: n = 3089) were used for the study. Binomial regression models were fitted to examine the association between disability status and dental attendance. The models were adjusted for gender, parent's country of birth, region of residence, highest parental education and household weekly income, and multiple imputations was used for handling missing data. RESULTS: Children with disabilities constituted 2.4% and 3.8% of the study sample in the B and K cohort, respectively. The unadjusted risk ratio of irregular (vs. regular) dental attendance between children with and without disabilities was 1.07 (95% CI 0.78-1.46) in the B cohort and 1.15 (95% CI 0.93-1.42) in the K cohort. After adjustment and imputation, the risk ratios were 1.03 (95% CI 0.76-1.41) and 1.10 (95% CI 0.89-1.36) in the B and K cohort, respectively. CONCLUSIONS: Dental attendance pattern was positively, but minimally, associated with disabilities in older children, and factors including region of residence, parental education and household income were related to disability status and dental attendance. Further studies are required to clarify the association and ascertain key factors that affect the health and wellbeing of children with disabilities.

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder.

This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database. A first model included factors available at birth (e.g., sex, variant group and mosaicism) and the second additionally included factors available during infancy (e.g., age at seizure onset, number of anti-seizure medications used, experience of a honeymoon period and formal therapy). Cox regression was used to model the time to achieve the milestones. The probability of attaining the outcomes at specific ages was estimated by evaluating the time-to-event function at specific covariate values. Independent sitting and walking were achieved by 177/350 and 57/325 children respectively. By seven years of age, 67.1% of females but only 37.3% of males could sit independently. About a quarter each of females and males achieved independent walking by eight and six years, respectively. When observed from birth, female gender, a late truncating variant and mosaicism impacted most positively on the likelihood of independent sitting. When observed from one year, later seizure onset and experiencing a honeymoon period also improved the likelihood of independent sitting. Factors that favoured sitting (except gender) also improved walking. Having a truncating variant between aa178 and aa781 reduced the likelihood of achieving independent sitting and walking. It is possible to utilise factors occurring early in life to inform the likelihood of future motor development in CDD.

Development of prognostic model for preterm birth using machine learning in a population-based cohort of Western Australia births between 1980 and 2015.

Preterm birth is a global public health problem with a significant burden on the individuals affected. The study aimed to extend current research on preterm birth prognostic model development by developing and internally validating models using machine learning classification algorithms and population-based routinely collected data in Western Australia. The longitudinal retrospective cohort study involved all births in Western Australia between 1980 and 2015, and the analytic sample contains 81,974 (8.6%) preterm births (< 37 weeks of gestation). Prediction models for preterm birth were developed using regularised logistic regression, decision trees, Random Forests, extreme gradient boosting, and multi-layer perceptron (MLP). Predictors included maternal socio-demographics and medical conditions, current and past pregnancy complications, and family history. Class weight was applied to handle imbalanced outcomes and stratified tenfold cross-validation was used to reduce overfitting. Close to half of the preterm births (49.1% at 5% FPR, 95% CI 48.9%,49.5%) were correctly classified by the best performing classifier (MLP) for all women when current pregnancy information was available. The sensitivity was boosted to 52.7% (95% CI 52.1%,53.3%) after including past obstetric history in a sub-population of births from multiparous women. Around half of the preterm birth can be identified antenatally at high specificity using population-based routinely collected maternal and pregnancy data. The performance of the prediction models depends on the available predictor pool that is individual and time specific.

Association between lack of dental service utilisation and caregiver-reported caries in Australian Indigenous children: A national survey.

AIM: To investigate the association between the lack of dental service utilisation and dental caries in Australian Indigenous children. METHODS: Data from the Longitudinal Study of Indigenous Children, which is a longitudinal population-based cross-sectional study in Australia were analysed. A total of 1258 children were included, consisting of the baby cohort and the child cohort at Wave 7. Logistic regression analysis was conducted to examine the association between caregiver-reported child dental caries and dental service utilisation. Multiple imputation using the fully conditional specifications approach was used to account for missing data. RESULTS: Around one tenth (12.3%) of Indigenous children did not see a dentist when required. Lack of dental service utilisation was associated with an increased likelihood of caregiver-reported dental caries (odds ratio (OR) 2.4; 95% confidence interval (CI) 1.5-3.8) and teeth removed due to dental caries (OR 2.3; 95% CI 1.1-4.7). These associations remained after adjusting for confounders (caregiver-reported dental caries OR 2.3; 95% CI 1.3-3.8; teeth removed due to dental caries OR 2.1; 95% CI 1.0-4.4). The reasons reported for not utilising dental services when required were the lack of an available dentist (31.4%), difficulties with physical access (19.8%), long waiting times (13.9%), financial issues with cost (5.8%) and feeling that 'they could cope' (4.6%). CONCLUSIONS: Lack of dental service utilisation was associated with dental caries and extraction due to caries in Australian Indigenous children.

Quality of life beyond diagnosis in intellectual disability - Latent profiling.

OBJECTIVE: To compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities. METHOD: Primary caregivers of 526 children with intellectual disability (age 5-18 years) and a diagnosis of cerebral palsy, autism spectrum disorder, Down syndrome, CDKL5 deficiency disorder or Rett syndrome completed the Quality of Life Inventory-Disability (QI-Disability) questionnaire. Latent profile analysis of the QI-Disability domain scores was conducted. RESULTS: The mean (SD) total QOL score was 67.8 (13.4), ranging from 60.3 (14.6) for CDD to 77.5 (11.7) for Down syndrome. Three classes describing domain scores were identified: Class 1 was characterised by higher domain scores overall but poorer negative emotions scores; Class 2 by average to high scores for most domains but low independence scores; and Class 3 was characterised by low positive emotions, social interaction, and leisure and the outdoors scores, and extremely low independence scores. The majority of individuals with autism spectrum disorder and Down syndrome belonged to Class 1 and the majority with CDKL5 deficiency disorder belonged to Class 3. Those with better functional abilities (verbal communication and independent walking were predominately members of Class 1 and those with frequent seizures were more often members of Class 2 and 3. CONCLUSION: The profiles illustrated variation in QOL across a diverse group of children. QOL evaluations illustrate areas where interventions could improve QOL and provide advice to families as to where efforts may be best directed.

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

AIMS: Intellectual 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 RESULTS: Retrospective 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. CONCLUSIONS: Dentist-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.