Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.

BACKGROUND: Collagen XVII is most typically associated with human disease when biallelic COL17A1 variants (>230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. Despite recognition that heterozygous carriers in JEB families can have AI, and that heterozygous COL17A1 variants also cause dominant corneal epithelial recurrent erosion dystrophy (ERED), the importance of heterozygous COL17A1 variants causing dominant non-syndromic AI is not widely recognised. METHODS: Probands from an AI cohort were screened by single molecule molecular inversion probes or targeted hybridisation capture (both a custom panel and whole exome sequencing) for COL17A1 variants. Patient phenotypes were assessed by clinical examination and analyses of affected teeth. RESULTS: Nineteen unrelated probands with isolated AI (no co-segregating features) had 17 heterozygous, potentially pathogenic COL17A1 variants, including missense, premature termination codons, frameshift and splice site variants in both the endo-domains and the ecto-domains of the protein. The AI phenotype was consistent with enamel of near normal thickness and variable focal hypoplasia with surface irregularities including pitting. CONCLUSION: These results indicate that COL17A1 variants are a frequent cause of dominantly inherited non-syndromic AI. Comparison of variants implicated in AI and JEB identifies similarities in type and distribution, with five identified in both conditions, one of which may also cause ERED. Increased availability of genetic testing means that more individuals will receive reports of heterozygous COL17A1 variants. We propose that patients with isolated AI or ERED, due to COL17A1 variants, should be considered as potential carriers for JEB and counselled accordingly, reflecting the importance of multidisciplinary care.

Molar incisor hypomineralisation: Teaching and assessment across the undergraduate dental curricula in the UK.

BACKGROUND: No consensus exists on how molar incisor hypomineralisation (MIH) should be covered by the undergraduate dental curricula. AIM: To assess the current teaching and assessment of MIH in the UK. DESIGN: A piloted questionnaire regarding the teaching and assessment of MIH was disseminated to paediatric, restorative and orthodontic teaching leads in each UK dental school (n = 16). Data were analysed using descriptive statistics, chi-squared and Kruskal-Wallis tests. RESULTS: Response rates from paediatric, restorative and orthodontic teams were 75% (n = 12), 44% (n = 7) and 54% (n = 8), respectively. Prevention of caries, preformed metal crowns, anterior resin composites and vital bleaching were taught significantly more by paediatric teams (p = .006). Quality of life and resin infiltration were absent from restorative teaching. Orthodontic teaching focussed on the timing of first permanent molar extractions. Paediatric teams were mainly responsible for assessment. Risk factors, differential diagnoses for MIH and defining clinical features were more likely to be assessed by paediatric teams than by others (p = .006). All specialities reported that students were prepared to manage MIH. CONCLUSION: Molar incisor hypomineralisation is primarily taught and assessed by paediatric teams. No evidence of multidisciplinary or transitional teaching/assessment existed between specialities. Developing robust guidance regarding MIH learning in the UK undergraduate curricula may help improve consistency.

Dental professionals' views on motivational interviewing for the prevention of dental caries with adolescents in central Norway.

BACKGROUND: Establishing positive oral health behaviours during adolescence should be a key priority to improve lifelong oral health. However, changing adolescent behaviours is known to be a challenge. Motivational interviewing (MI) is a method of working with patients to activate their motivation for change and has shown promising results within the dental setting. Yet, little is known about the actual experiences and perspectives of Norwegian dental health professionals in delivering motivational interviewing as part of routine care to their young patients. The overall aim of the present study was to explore the implementation of motivational interviewing by dentists and dental hygienists, employed by the Norwegian Public Dental Service, for their adolescent patients. METHODS: As part of the larger #Care4YoungTeeth <3 project, a Norwegian Research Council funded four-year Collaborative Project to Meet Societal and Industry-related Challenges, an online survey was developed and administered to dental personnel (n = 168) in one region of Central Norway. Data were analysed by descriptive statistics and two-sample tests of proportions at the 95% confidence level. RESULTS: A total of 98 dental personnel responded to the survey (response rate 58.3%), of which 37 were dental hygienists (response rate 72.5%) and 61 were dentists (response rate 52.1%). A greater proportion of hygienists reported implementing this intervention compared to dentists (78.4% versus 50.8%; p = 0.007). Similarly, a greater proportion of hygienists (83.8%) stated that they had received training in MI compared to dentists (65.6%; p = 0.051). About 80% of dentists and 90% of dental hygienists felt that they understood the principles of MI. However, only about 45% and 60%, respectively, felt confident in its use. Dental hygienists found MI more usable in their work (p = 0.052), to a greater extent want to use MI (p = 0.002) and found that using MI works well (p < 0.001), as compared to dentists. CONCLUSIONS: A high proportion of dental professionals working within a Norwegian public dental service have received training in MI. However, barriers to implementation for adolescent patients and differences in practice between dentists and hygienists warrant further enquiry.

A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.

Amelogenesis is the process of enamel formation. For amelogenesis to proceed, the cells of the inner enamel epithelium (IEE) must first proliferate and then differentiate into the enamel-producing ameloblasts. Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective or absent tooth enamel. We identified a 2 bp variant c.817_818GC>AA in SP6, the gene encoding the SP6 transcription factor, in a Caucasian family with autosomal dominant hypoplastic AI. The resulting missense protein change, p.(Ala273Lys), is predicted to alter a DNA-binding residue in the first of three zinc fingers. SP6 has been shown to be crucial to both proliferation of the IEE and to its differentiation into ameloblasts. SP6 has also been implicated as an AI candidate gene through its study in rodent models. We investigated the effect of the missense variant in SP6 (p.(Ala273Lys)) using surface plasmon resonance protein-DNA binding studies. We identified a potential SP6 binding motif in the AMBN proximal promoter sequence and showed that wild-type (WT) SP6 binds more strongly to it than the mutant protein. We hypothesize that SP6 variants may be a very rare cause of AI due to the critical roles of SP6 in development and that the relatively mild effect of the missense variant identified in this study is sufficient to affect amelogenesis causing AI, but not so severe as to be incompatible with life. We suggest that current AI cohorts, both with autosomal recessive and dominant disease, be screened for SP6 variants.

Making white spots disappear! Do minimally invasive treatments improve incisor opacities in children with molar-incisor hypomineralisation?

BACKGROUND: Children with molar-incisor hypomineralisation (MIH) frequently seek aesthetic treatment for incisor opacities. Surprisingly, few studies have evaluated the clinical success of such interventions. AIM: To quantify the effectiveness of minimally invasive treatments in reducing enamel opacity visibility in children with MIH. DESIGN: This in vitro study used digital clinical images of 23 children aged 8-16 years with MIH who underwent microabrasion and/or resin infiltration for the management of incisor opacities. Standard images were taken pre-treatment and 6 months post-treatment. Image software (Image-Pro Plus® V7) was employed to convert 24-bit RGB images to 16-bit greyscale and 145× magnification. Measurement repeatability was assessed using intra-class correlation coefficients (ICCs). Post-treatment changes in visible opacity area (mm2 ) and brightness (greyscale value) were tested using the Wilcoxon signed-rank test for related samples. RESULTS: The mean total opacity surface area significantly reduced from 14.3 mm2 (SD = 7.5) to 9.4 mm2 (SD = 9.0) post-treatment. The proportion of tooth surface affected by the opacity also significantly reduced from 22.5% (SD = 10.5) to 14.7% (SD = 12.7). The mean maximum opacity brightness significantly reduced from 53 066 greyscale value (SD = 4740) to 49 040 (SD = 3796). ICC was good/excellent (0.75-1.0). CONCLUSION: Minimally invasive treatment is effective in reducing the size and brightness of discrete incisor opacities. Future research should compare objective findings with patient-reported outcomes.

Development and evaluation of CARIES-QC: a caries-specific measure of quality of life for children.

BACKGROUND: Existing paediatric oral health-related quality of life (OHRQoL) measures are generic instruments designed to evaluate a range of oral conditions. It has been found that disease-specific measures may be more adept at detecting subtle changes which occur following treatment of the condition in question. Furthermore, existing self-report OHRQoL measures have not involved children at all stages of development of the measure. The aim of this study was to develop a caries-specific measure of quality of life for children. METHODS: The first stage of the study involved a qualitative enquiry with children, aged 5-16 years, to inform the development of the measure. Children generated the potential items, contributed to item reduction and questionnaire design and participated in the testing of face and content validity. The resulting measure was evaluated in a cross-sectional validation study. Ethical approval was granted for the study. RESULTS: The qualitative study found that children discussed a number of caries-related impacts which affected their daily lives. These were incorporated into a draft measure which was further refined following testing of face and content validity. This resulted in the production of the Caries Impacts and Experiences Questionnaire for Children (CARIES-QC), comprising 16 items and one global question. Two hundred participants with a mean (range) age of 8.1 (5-16) years took part in the further evaluation of CARIES-QC. Four items, which did not fit the Rasch model, were removed from further analysis. The remaining 12 items demonstrated good internal consistency (alpha = 0.9) and the total score showed significant correlations with the number of decayed teeth, presence of pain, pulpal involvement, the Child Perceptions Questionnaire (16-item short form) and the global score (p < 0.01, Spearman's rho). CONCLUSION: In conclusion, children's input allowed the development of a valid and reliable child-centred caries-specific quality of life measure. CARIES-QC can now be used to evaluate which interventions for dental caries are most effective in reducing impacts from the child's perspective.

Traumatic dental injury research: on children or with children?

BACKGROUND AND AIM: It is widely acknowledged that children should participate in healthcare decisions, service development and even setting research agendas. Dental traumatology is a major component of paediatric dentistry practice and research. However, little is known about young patients' contribution to new knowledge in this field. The aim of the study was to establish the extent to which children are involved in contemporary dental trauma research and to evaluate the quality of the related literature. MATERIAL AND METHODS: A systematic review of the dental trauma literature was conducted from 2006 to 2014. The electronic databases, MEDLINE and Scopus, were used to identify relevant studies. The selected papers were independently examined by five calibrated reviewers. Studies were categorized by the degree of children's involvement and appraised using a validated quality assessment tool. RESULTS: The initial search yielded 4374 papers. After application of the inclusion and exclusion criteria, only 96 studies remained. Research on children accounted for 87.5% of papers, and a proxy was involved in 4.2%. Children were engaged to some degree in only 8.3% of studies, and there were no studies where children were active research participants. In the quality assessment exercise, papers scored, on average, 57% (range = 14-86%). CONCLUSION: There is scope to encourage more active participation of children in dental trauma research in the future. Furthermore, there are some areas where the quality of research could be improved overall.

Change in children's oral health-related quality of life following dental treatment under general anaesthesia for the management of dental caries: a systematic review.

BACKGROUND: Dental caries has significant impact on children and their families and may necessitate treatment under general anaesthesia (GA). The use of oral health-related quality-of-life (OHRQoL) measures enables evaluation of dental treatment from a patient's perspective. OBJECTIVE: This systematic review aimed to assess change in OHRQoL in children following treatment under GA for the management of dental caries. METHODS: A comprehensive search was conducted to identify articles which were assessed against inclusion criteria before data extraction. Studies involving children under 16 years, having treatment for dental caries under GA, were considered eligible. Included studies were quality assessed. RESULTS: Twenty studies were included, which demonstrated significant heterogeneity. Most studies employed a pre-test-post-test design. All but one study relied on proxy reports of OHRQoL. Only half the studies used instruments validated in the study population. Whereas all studies reported improved OHRQoL overall, some subscales showed changes which were not significant or worsened OHRQoL. The scientific quality of the studies varied considerably. CONCLUSION: Heterogeneity of included papers limited the conclusions which could be drawn. Treatment under GA appears to result in overall improvements in proxy-reported OHRQoL; however, there is a need for further high-quality studies employing validated, child-reported measures of OHRQoL.

Development of a decision aid for children faced with the decision to undergo dental treatment with sedation or general anaesthesia.

BACKGROUND: Decision aids are tools used to help individuals faced with difficult healthcare decisions. They help patients further understand the treatment options available and encourage the sharing of information between patients and clinicians. AIM: To develop a decision aid for young patients faced with the decision to undergo dental treatment with inhalation sedation, intravenous sedation, or general anaesthesia (GA). DESIGN: Qualitative interviews with dental patients (aged 10-16 years), and their parents/guardians were used to inform the content of a draft decision aid. Following further revisions, a pilot evaluation of the decision aid was conducted. Patients referred for dental treatment with sedation or GA were recruited from a UK dental hospital. Patients (n = 15) and parents/guardians (n = 13) assigned to the intervention group received the decision aid and routine clinical counselling, whereas patients (n = 17) and parents/guardians (n = 13) in the control group only received routine clinical counselling. Participants completed measures of knowledge, decisional conflict, and dental anxiety. RESULTS: Knowledge scores were significantly higher for participants who received the decision aid when compared to standard care. There were no other significant differences between groups. CONCLUSIONS: A decision aid was successfully developed, and initial findings suggest such tools could be beneficial to dental sedation or GA patients and their parents/guardians. Further research is required on the use of such tools in primary care settings, with particular attention to the impact of the decision aid on attendance and completion rates of treatment.

Children's experiences of dental anxiety.

BACKGROUND: Dental anxiety is common among children. Although there is a wealth of research investigating childhood dental anxiety, little consideration has been given to the child's perspective. AIM: This qualitative study sought to explore with children their own experiences of dental anxiety using a cognitive behavioural therapy assessment model. DESIGN: Face-to-face, semi-structured interviews were conducted with dentally anxious children aged 11-16 years. The Five Areas model was used to inform the topic guide and analysis. Data were analysed using a framework approach. RESULTS: In total, 13 children were interviewed. Participants described their experiences of dental anxiety across multiple dimensions (situational factors and altered thoughts, feelings, physical symptoms, and behaviours). Participants placed considerable value on communication by dental professionals, with poor communication having a negative influence on dental anxiety and the dentist-patient relationship. CONCLUSIONS: This study confirms the Five Areas model as an applicable theoretical model for the assessment of childhood dental anxiety. Children provided insights about their own dental anxiety experiences that have not previously been described.

Childhood dental injuries: a resiliency model of adaptation.

BACKGROUND: There is a paucity of research examining how children and their families adapt to traumatic dental injuries. AIM: This study examined how clinical and psychosocial factors influence adaptation to this oral stressor using a theoretical framework of resiliency and adaptation. DESIGN: Children with traumatised permanent teeth, who were attending a UK dental hospital, completed questionnaires at baseline and at a 6 month follow-up. Child questionnaires assessed coping styles, social support, and quality of life outcomes. Parents were also asked to complete questionnaires, which assessed previous stressors/strains on the family, social support, healthcare satisfaction, and family impacts. Data related to the child's dental injury were collected from clinical notes. Structural equation modelling and regression analyses were employed to analyse data. RESULTS: One hundred and eight children and 113 parents participated at baseline. Children's gender, coping style, social support, and family functioning significantly predicted children's oral health-related quality of life. Parents' satisfaction with their children's dental care significantly predicted parental quality of life outcomes. Children's close friend support and healthcare satisfaction remained significant predictors of positive outcomes at follow-up. CONCLUSIONS: The findings revealed important psychosocial factors that influence child and family adaptation to childhood dental trauma.

How do children view other children who have visible enamel defects?

BACKGROUND: Facial and dental appearance influences how individuals are perceived by others. AIM: This study aimed to determine whether young people make judgements about other young people with visible enamel opacities. DESIGN: Focus group findings were used to develop a social attribute questionnaire to capture young people's dental appearance-related judgements. 547 pupils (aged 11-15 years), from two different schools, participated in the study. Half the participants were given full-face photographs of a boy and girl without an enamel defect, and the other half were given the same two photographs with the subjects' incisors digitally modified to show enamel opacities. Participants completed the attribute questionnaire to rate the photographic subjects according to six positive and five negative descriptors using a four-point Likert scale. The total attribute score (TAS) could range from 11 (most negative) to 44 (most positive). RESULTS: TAS was significantly lower for photographic subjects with enamel defects compared to the same subject with normal enamel appearance (P < 0.001, one sample t-test). Gender had a significant impact on TAS, with boys making more negative judgements than girls. Age and socio-economic status did not have an effect. CONCLUSION: Young people may make negative psychosocial judgements on the basis of enamel appearance.

The impact of dental caries on children and young people: what they have to say?

BACKGROUND: Dental caries affects 60-90% of children across the world and is associated with a variety of negative impacts. Despite its ubiquity, there has been surprisingly little exploration of these impacts from the child's perspective. AIM: The aim was to allow children to describe the impact of dental caries on their daily lives and to describe the terminology they used. DESIGN: Children, aged 5-15 years, with caries experience were purposively sampled from primary and secondary care dental clinics. Focus groups (n = 5) and in-depth interviews (n = 16) were recorded and transcribed verbatim. Data analysis took a narrative approach, and themes were derived from the data using framework analysis. RESULTS: Pain was the main theme to emerge. Within this, three subthemes were identified: impacts related to pain, strategies adopted to reduce pain, and emotional aspects resulting from pain. A second theme was also identified relating to the aesthetic aspects of caries. CONCLUSION: Children as young as 5 years of age were able to competently discuss their experiences of dental caries. Participants reported a number of impacts affecting various aspects of their lives. These will be incorporated into the future development of a caries-specific measure of oral health-related quality of life.

Seen and heard: towards child participation in dental research.

BACKGROUND: There has been an increasing emphasis in many countries worldwide to capture the views of children on health services and research. A previous systematic review found that most oral health research from 2000 to 2005 was conducted on children and highlighted the need for greater research with children. AIM: To describe the extent to which oral health research between 2006 and 2014 has been conducted with or on children. DESIGN: Systematic review. Electronic databases were searched for the literature on child dental health. Each identified paper was examined by two researchers and categorised based on the extent to which children were involved in the research, the type of study (evaluative or otherwise), the country of origin, and the clinical discipline. RESULTS: The search included 2950 papers after application of the exclusion criteria. Of these, 17.4% were with children, 18.3% involved the use of proxies (parents or clinician), and 64.2% were on children. CONCLUSIONS: The proportion of studies from 2006 to 2014 involving research with children has increased from 7.3% in 2000-2005. This systematic review provides evidence for movement towards children's involvement in dental research over the last 10 years. Future dental research must focus on incorporating children's perspectives into the evaluation of dental treatments to improve outcomes for children.

Pulpal status of human primary molars with coexisting caries and physiological root resorption.

AIM: This study sought to investigate the effect of caries, in association with physiological root resorption, on the pulpal status of human primary molars. DESIGN: Fifty-three mandibular primary molars were obtained from children requiring extractions under general anaesthesia. Following extraction, teeth were split longitudinally and placed in Zamboni's fixative. Teeth were categorised according to i) the depth of caries (less than or greater than halfway through dentine thickness) and ii) the degree of physiological root resorption (<33%, 34-66% or >67% of the root length). Ten-micrometre pulp sections were subject to indirect immunofluorescence using a combination of PGP 9.5 (a general neuronal marker), CD45 (a general neuronal marker), and Ulex europaeus agglutinin I (a marker of vascular endothelium). Image analysis was used to determine the percentage area of staining (PAS) for innervation and immune cells. RESULTS: Marked differences were seen between different samples, but there were no significant differences in mean PAS for PGP 9.5 or CD45 according to the degree of caries or extent of physiological root resorption (two-way anova, P > 0.05). CONCLUSION: Findings suggest that even if primary molars are undergoing exfoliation, they show comparable caries-induced changes to teeth without physiological root resorption, thus retaining potential for healing and repair.

Parental quality-of-life impacts following children's dento-alveolar trauma.

BACKGROUND/AIM: The aim of this longitudinal study was to investigate the impacts of children's dental injuries on parents and explore how demographic, clinical and psychosocial characteristics influence parental adaptation to dental injuries over time. MATERIALS AND METHODS: A total of 244 families attending a UK-based Dental Hospital, for management of their child's traumatized permanent teeth, were invited to participate. Clinical information relating to the child's injury was collected from patient notes. Self-report questionnaires collected baseline information on children's oral health-related quality-of-life (OHRQoL), parental satisfaction with dental treatment and parental health-related quality-of-life (HRQoL) and worry. Parental outcomes were assessed again at a six-month follow up. RESULTS: 108 children and 113 parents participated in the baseline study (44% and 46% response rates), and of this group, a total of 73 parents completed follow-up questionnaires (65% response rate). Parents reported improved HRQoL at follow up; however, parental worry did not decrease over time. Parental satisfaction with treatment and children's OHRQoL were the only significant predictors of parental HRQoL at the six-month follow up. CONCLUSIONS: The findings highlight the inter-relationship between child and parental outcomes following their children's dental injuries and the importance of the dental team delivering a family-centred approach for the management of their children's dental injuries.

Children's and adolescent's perspectives on cleft lip and/or palate.

OBJECTIVE: Children's voices are being increasingly acknowledged in health care research. The aim of this study was to explore children's and young people's perspectives of being born with a cleft lip and/or palate. DESIGN: The research took a qualitative approach that consisted of two interviews with each child, drawing on child-centered methodologies and techniques. The initial interview focused on children's general life stories, and these often encompassed a discussion about cleft lip and/or palate. The follow-up interview explored specific aspects of the condition and related treatment. PARTICIPANTS: The self-selected sample consisted of 17 children and young people (eight boys, nine girls) with cleft lip and/or palate, aged 8 to 17 years, who received treatment at a dental hospital in the U.K. RESULTS: Children's and young people's accounts identified a number of themes including how they became aware that they had been born with the condition, their views of the treatment pathway, and how it related to who they are. CONCLUSIONS: This study highlights the value of including young people's perspectives in oral health-related research. It has allowed a deeper insight into cleft lip and palate and shows that young people can contribute their views and experiences about services which demonstrate that these could be incorporated into service evaluations.

An International Investigation of Molar Incisor Hypomineralisation (iMIH) and Its Association with Dental Anomalies: Development of a Protocol.

BACKGROUND: Molar incisor hypomineralisation (MIH) is a common disorder of tooth development, which has recently been found to be associated with a higher prevalence of hypodontia. The aim of this international multicentre study is to determine the association between MIH and other developmental anomalies in different populations. METHODS: Investigators were trained and calibrated for the assessment of MIH and dental anomalies and ethical approvals obtained in each participating country. The study aimed to recruit 584 children with MIH and 584 children without MIH. Patients aged 7-16 years who attend specialist clinics will be invited to participate. Children will undergo a clinical examination to determine the presence and severity of MIH, using an established index. The presence of any other anomalies, affecting tooth number, morphology, or position, will be documented. Panoramic radiographs will be assessed for dental anomalies and the presence of third permanent molars. Statistical analysis, using a chi squared test and regression analysis, will be performed to determine any differences in dental anomaly prevalence between the MIH and non-MIH group and to determine any association between dental anomalies and patient characteristics. CONCLUSION: This large-scale study has the potential to improve understanding about MIH with benefits for patient management.

Children's experiences of participation in the cleft lip and palate care pathway.

AIM: This qualitative study sought to explore children's perspectives on their participation in the cleft lip and palate care pathway. DESIGN: Eight boys and nine girls (aged 8-17 years), with a range of cleft types and who were patients at a British dental hospital each took part in two child-centred interviews which incorporated participatory activities. An initial interview focused on children's general life stories, and these often encompassed a discussion about cleft lip and/or palate. A follow-up interview explored specific aspects of the condition and its related treatment. RESULTS: Data revealed the varying roles that young people can play in decision-making, which can be described as active or passive. In addition, the dynamic degree of participation was highlighted with patients occupying different roles throughout the care pathway. CONCLUSION: The research provides an insight into treatment decisions, and how young people, their families, and clinicians interact to arrive at these. Findings provide further evidence to support the important contribution young patients can make in their own treatment choices.

Understanding children's dental anxiety and psychological approaches to its reduction.

BACKGROUND: Dental anxiety is a common problem, which can affect people of all ages, but appears to develop mostly in childhood and adolescence. Childhood dental anxiety is not only distressing for the child and their family but is also associated with poor oral health outcomes and an increased reliance on costly specialist dental services. AIM: This article will consider the prevalence, development, and implications of children's dental anxiety. It will also discuss the opportunities for and challenges of psychological approaches such as cognitive behavioural therapy aimed at the reduction of dental anxiety in children.