Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due to advances in next-generation sequencing, CTNND1 has been implicated in human diseases including cleft palate and blepharocheilodontic (BCD) syndrome albeit only recently. In this study, we identify eight novel protein-truncating variants, six de novo, in 13 participants from nine families presenting with craniofacial dysmorphisms including cleft palate and hypodontia, as well as congenital cardiac anomalies, limb dysmorphologies and neurodevelopmental disorders. Using conditional deletions in mice as well as CRISPR/Cas9 approaches to target CTNND1 in Xenopus, we identified a subset of phenotypes that can be linked to p120-catenin in epithelial integrity and turnover, and additional phenotypes that suggest mesenchymal roles of CTNND1. We propose that CTNND1 variants have a wider developmental role than previously described and that variations in this gene underlie not only cleft palate and BCD but may be expanded to a broader velocardiofacial-like syndrome.

Utilizing Teledentistry to Manage Cleft Lip and Palate Patients in an Outpatient Setting.

BACKGROUND: As a result of the current global pandemic, the dental profession has utilized teledentistry to reduce footfall in the hospitals and clinics where possible. Pediatric dental consultants form a vital part of a multidisciplinary team and regularly monitor the dental growth and development of patients with cleft lip and palate. OBJECTIVE: To assess the effectiveness of the service provided by pediatric dental consultants in the South Thames Cleft Service at Evelina Children's Hospital during the COVID-19 pandemic through virtual clinics. DESIGN: Data were collected retrospectively and include all cleft patients contacted via the virtual clinic during May to July 2020. Patients were prioritized by the Red, Amber, Green (RAG) scale to highlight the urgency of their next face-to-face appointment. RESULTS: A total of 215 patients were contacted during this period with a 97% response rate. Patients given a RAG score of GREEN (86%) meant no urgent requirement for a face-to-face consultation and AMBER (8%) patients required treatment that was deemed nonurgent. However, 3% of patients received a RED rating as they required urgent input. CONCLUSION: Through these virtual clinics, the pediatric team was able to reach 208 patients and provided advice and reassurance. The need for face-to-face appointment was eliminated for 11% of patients who were discharged to their local dental practitioners, thereby reducing the risk of spreading COVID-19.

Clefts and Dental General Anesthesia: The South Thames Experience.

BACKGROUND: Children with clefts have high dental needs and often require a dental general anesthesia (DGA) for the management of their dentition. OBJECTIVE: To assess the number of children with clefts requiring a pediatric dental consultant led DGA in the South Thames Cleft Service over a 3-year period. DESIGN: Data were collected retrospectively over a 36-month period. RESULTS: Sixty-five children with cleft lip and/or palate required a DGA with the South Thames Cleft Service. The average age of the child was 7 years, and the average number of teeth treated under the general anesthetic was 9. Families traveled an average of 21 miles to access their child's care, and the referral-to-treat time was on average 14 weeks. CONCLUSION: Results highlight the need for DGA provision for children with clefts. Cleft centers need sufficient capacity for this service to prevent long wait times, and in view of distances traveled shared, care should be implemented with local providers.

Oral and dental health promotion for children's nurses.

Tooth decay remains one of the most common preventable oral health concerns in children. After birth, advice to caregivers predominantly focuses on medical health with little attention paid to dental health. Before discharge from the maternity unit and during future hospital and community appointments, opportunistic dental advice should be provided by midwives, nurses and health visitors where possible, with the aim of preventing early onset dental disease. Registering with a dentist at birth is crucial due to long NHS dental waiting lists. Simple advice on toothbrushing should be offered, including brushing twice a day with a soft toothbrush using an age-appropriate amount of fluoride toothpaste. Mothers should be provided with information on the benefits of breastfeeding for oral health alongside tailored preventive care. Appropriate advice on bottle-feeding and weaning is required, including minimising the use of added sugar, drinking from free-flow cups after six months of age, and discouraging the use of milk bottles at bedtime and in general after one year of age. Written visual summaries can be shared with parents to consolidate verbal advice on oral and dental health.

Macrodontia and double teeth: a review and case series.

Macrodontia is a dental anomaly pertaining to the increased size of a tooth or multiple teeth. Double teeth are dental abnormalities concerning tooth morphology and the term traditionally refers to geminated or fused teeth. These anomalies may manifest in both primary and permanent dentitions and usually become apparent in childhood. They may cause a variety of clinical sequelae, including orthodontic complications, such as crowding, ectopic eruption of adjacent teeth and periodontal concerns. Double teeth are also at a higher risk of developing caries. The aesthetic implications of these dental anomalies can affect the psychosocial development of a patient. This, together with the range of functional repercussions, can often need dental treatment to improve quality of life. The functional and aesthetic complexities that may arise in the affected patients can require endodontic, restorative, surgical and/or orthodontic input as part of the management strategy and execution. We present four clinical cases of paediatric patients where a range of management approaches were employed for both macrodontia and double teeth.

Challenges for dental care of the paediatric patient born with cleft lip and/or palate.

This paper forms part of a series on the management of patients with cleft lip and/or palate (CLP). Children with CLP have a higher incidence of dental caries and dental anomalies. This paper explains the important roles of both the general dental practitioner and specialist paediatric dentist on the cleft team in managing these children alongside the multidisciplinary team.

Natal and neonatal teeth: a review and case series.

Natal and neonatal teeth are a relatively rare but well-documented phenomenon, with the majority being prematurely erupted teeth of the normal primary dentition. Related complications include feeding issues, traumatic lingual ulceration and risk of aspiration. We present three clinical cases referred to the Paediatric Dentistry Department at Guy's and St Thomas' NHS Foundation Trust and their management. Treatment choice is based on individual assessment of each patient and options include monitoring, smoothing of the teeth or extraction. General dental practitioners should be able to diagnose natal and neonatal teeth and provide initial management in primary care, with referral to secondary care services in more complex cases or those which are likely to require extraction.

Motivational interviewing versus conventional caries prevention strategies in high-caries-risk children and families: a non-randomised trial.

Background This study compared the effectiveness of motivational interviewing (MI) and conventional caries prevention (CCP) for primary (caries increment) and secondary outcomes (caries intensity, gingival health, caregiver-reported oral health-related knowledge, behaviours and attitudes) over 12 months.Methods High-caries-risk children and caregivers received CCP or MI with comprehensive dental care. Fidelity was monitored using MI treatment integrity code 4.2.1. Caries increment, intensity and gingival health were measured at baseline, six and twelve months. Readiness Assessment of Parents Concerning Infant Dental Decay questionnaires recorded oral health-related knowledge, behaviours and attitudes.Results In total, 86 caregiver-child dyads (CCP = 51; MI = 35) were recruited. The mean difference (95% confidence interval [CI]) in caries increment (ΔdICDAS1-6mfs + DICDAS1-6MFS) was significantly higher with MI compared to CCP at six (MI 2.3 [1.2, 3.5] vs CCP 0.6 [0.1, 1.0]; p <0.001) and twelve (MI 4.3 [2.5, 6.0] vs CCP 1.2 [0.6, 1.8]; p <0.001) months. Multivariate analysis with CCP as reference group, odds ratio (95% CI) for new/progressed caries (Δdecayed, missing and filled surface score [permanent] + decayed, missing and filled surface score [primary] >0) at six and twelve months were 18.2 (4.0, 81.7); p <0.001 and 12.6 (3.3, 47.8); p <0.001, respectively. The MI group reported positive behaviours and attitudes.Conclusions CCP was more effective in reducing caries increment when behaviour change technique was incorporated into the preventative strategies as per current paediatric dentistry guidelines.

How effective is 5-Fluorouracil as an adjuvant in the management of odontogenic keratocyst? A systematic review and meta-analysis.

Odontogenic keratocyst (OKC) is known for its benign but aggressive clinical behaviour, and presents a challenge in its management due to high recurrence rate following surgical intervention. The sourcing of Carnoy's solution, the widely used adjunct in OKC treatment, has lately become difficult especially after its banning by the United States Food and Drugs Agency (FDA). This has generated interest in exploring alternative chemical agents such as 5-Fluorouracil (5-FU) and Modified Carnoy's solution (MCS). We conducted a systematic review and meta-analysis to assess the effectiveness of 5-FU as an adjunct following surgical intervention of OKC. A protocol was registered in PROSPERO prior to the literature search. All studies reporting the use of 5-FU in OKC treatment were included in the initial search of multiple literature databases. Of the 148 initially identified articles, three met the criteria for the final appraisal. The relevant data were extracted and a meta-analysis was undertaken in relation to recurrence rate and nerve paraesthesia. There were no recurrence observed in cases treated with 5-FU (n=56), and the incidence of nerve paraesthesia was 20% (none permanent). This systematic review has revealed early encouraging results for 5-FU as an adjunct, however a caution is recommended due to overall low quality of evidence related to individual studies. We present the cumulative evidence on the effectiveness of 5-FU in OKC treatment with discussion on its mechanism of action, safety profile, application protocol, and the implications for clinical practice.

Fidelity of motivational interviewing with families in high-caries-risk children.

OBJECTIVES: Motivational interviewing (MI) is a promising behavioural intervention for prevention of dental caries in children. Few studies have reported on fidelity of MI delivered in dental settings. The aim of this paper is to explore the fidelity of implementing MI in a clinical dental practice setting, as part of an intervention study investigating caries-preventive effects of MI delivered to high-caries-risk children and their primary caregivers. METHODS: Three oral health therapy clinicians trained in MI (counsellors) provided MI to high-caries-risk children and their primary caregivers. All MI sessions (n = 34) were audio-recorded and analysed using the MI Treatment Integrity code 4.2.1. Qualitative analysis of counsellor self-reflections identified barriers to MI delivery. RESULTS: All counsellors were found to adhere to the MI process and demonstrated fair to good MI proficiency for global scores, with a mean (95% CI) of 3.3 (3.1-3.4) recorded for technical scores and 3.6 (3.5-3.8) for relational scores. The mean (95% CI) per cent complex reflections was 23% (19.4-27.1) and the mean reflection:question ratio was 0.7 (0.6-0.9). No significant differences were observed between counsellors for MI proficiency. Cultural barriers, environmental distractions, participant dental anxiety and counsellor tendency towards prescriptive advice-giving were identified by counsellors as hindrances to effective MI. CONCLUSIONS: Motivational interviewing is a skill which requires multifaceted training, practice and mentoring to meet accepted proficiency thresholds. Monitoring of MI using a validated tool is essential to ensure delivery as intended and accurately attribute outcomes to the intervention. Dental organizations intending to implement MI for caries prevention should be aware of the demands on time and resources required to deliver proficient MI and monitor fidelity.

Common things are common: a case series of oral foreign bodies in paediatric patients.

Reports of foreign bodies in the oral cavity are few in number. Three cases of children of varying ages, presenting with oral foreign bodies, and their subsequent diagnosis and management, are described. The importance of considering foreign bodies, as part of a differential diagnosis in paediatric patients, where aetiology is uncertain and clinical appearance is unusual, is highlighted.

The dental health of cleft patients attending the 18-month-old clinic at a specialised cleft centre.

Background Cleft lip and/or palate (CLP) patients are at high risk of developing dental caries and show a greater prevalence of dental defects.Aims To establish if CLP patients who attended the 18-month clinic had local dentists, were complying with oral hygiene instruction and had stopped bottle-feeding as per guidelines.Design Data were collected retrospectively over a 24-month period in which a total of 62 records were assessed.Results Data analyses revealed that 42% of patients who attended the clinic were registered with a dentist. Fifty percent of patients had stopped bottle-feeding and 67% were brushing two or more times a day. Although all patients reviewed on the clinic were caries free, 57% presented with a dental anomaly (hypodontia, hypomineralisation or hypoplasia).Conclusion Despite CLP patients being at high risk for developing dental caries, results showed that significant proportions of parents/carers were not following national guidelines for prevention. This evaluation highlights that shared preventive support between primary care dentists and specialist cleft dentists is not being achieved in the majority of cases. It also recognises that parents of CLP patients are either not receiving, or are failing to implement, preventive care advice.

Regenerative Endodontic Therapy in the Management of Nonvital Immature Permanent Teeth: A Systematic Review-Outcome Evaluation and Meta-analysis.

INTRODUCTION: Although the protocols in previously published studies appeared to be largely similar, there were inadequate evidence-based guidelines to support a single protocol. Using a meta-analysis, this systematic review aimed to summarize and quantitatively evaluate the outcomes for nonvital immature permanent teeth treated using the regenerative endodontic technique (RET) as well as critically appraise the level and quality of evidence of the existing publications. METHODS: Risk of bias assessment and level of evidence grading were performed on all included studies. Meta-analyses using a random effects model were performed to combine the results of randomized controlled trials. The pooled success rate for each exposure was estimated for each outcome (event rates with 95% confidence intervals). The outcomes of all included studies were summarized. RESULTS: Success rates for tooth survival and resolution of periapical pathosis were excellent; however, results for apical closure and continued root development were inconsistent. There are few well-reported randomized prospective clinical studies. Reporting of long-term outcomes and late-stage effects was sparse. No study evaluated health economic outcomes and improvements to patients' quality of life. CONCLUSIONS: Many knowledge gaps still exist within the studies published. Current published evidence is unable to provide definitive conclusions on the predictability of RET outcomes.

Role of parental risk factors in the aetiology of isolated non-syndromic metopic craniosynostosis.

To try and identify potential parental risk factors for isolated non-syndromic metopic craniosynostosis, we did a telephone survey of parents of children who attended the craniofacial centre at Birmingham Children's Hospital (BCH), UK, from 1995 to 2004. We calculated the prevalence of a number of potential risk factors and compared them with those of the general population. A total of 103 children with syndromic or non-syndromic isolated metopic craniosynostosis were seen, of which 81 (79%) had non-syndromic, isolated metopic craniosynostosis (M:F ratio 3:1). The response rate to the telephone survey was 72%. The prevalences of maternal epilepsy and the use of valproate, antenatal maternal complications (hypertension or pre-eclampsia, haemorrhage, and urinary tract infection), and fertility treatment in our sample were significantly higher than among the general population (p=0.01 or less in all cases). The likely roles of maternal epilepsy and taking valproate in the aetiology of isolated non-syndromic metopic craniosynostosis are further consolidated by our study. The finding that antenatal complications are possible risk factors for craniosynostosis has not to our knowledge been published previously.

Adult head and neck soft tissue sarcomas: treatment and outcome.

We have retrospectively analysed the experience of a musculoskeletal oncological unit in the management of adult head and neck soft tissue sarcomas from 1990 to 2005. Thirty-six patients were seen, of whom 24 were treated at this unit, the remainder only receiving advice. The median age of the patients was 46 years. Most of the sarcomas were deep and of high or intermediate grade with a median size of 5.5 cm. Eleven different histological subtypes were identified. Wide excision was possible only in 21% of the cases. 42% of the patients developed local recurrence and 42% developed metastatic disease usually in the lungs. Overall survival was 49% at 5 years. Tumour size was the most important prognostic factor. Adult head and neck soft tissue sarcomas have a high mortality rate with a high risk of local recurrence and metastatic disease. The rarity of the disease would suggest that centralisation of care could lead to increased expertise and better outcomes.