Susan Parekh

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

Wolf–Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4p16.3) compared to those with a large deletion (breakpoint more proximal than 4p16.3). Further, fine-grained facial analysis of several individuals with an atypical genotype and/or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf–Hirschhorn syndrome facial phenotype.

Assessment of the quality of reporting of randomized clinical trials in paediatric dentistry journals

INTRODUCTION Reporting of randomized controlled trials (RCTs) should be of high quality to support the conclusions reached by the authors. Poor-quality reporting has been associated with an overestimation in intervention efficacy. Within the field of paediatric dentistry, no study has assessed the quality of reporting. OBJECTIVE The aim of this study was to assess published RCTs in paediatric dental journals between 1985 and 2006 for: (i) whether quality of reporting allows readers to assess the validity of trials; and (ii) whether quality of reporting has improved since the introduction of the Consolidated Standards of Reporting Trials (CONSORT) guidelines. METHODS Hand search of the main paediatric dentistry journals; inclusion criteria were: the trial was performed on children, and RCT. CONSORT guidelines were made into an operational checklist. Trials published between 1985 and 1997, and between 1998 and 2006 were compared to determine any improvement since the publication of the CONSORT guidelines. RESULTS One hundred and seventy-three of 5635 articles met the inclusion criteria. Reporting quality was poor overall and showed heterogeneity. It had improved slightly since the publication of CONSORT. Few trials were reported adequately. CONCLUSION The quality of reporting of clinical trials is poor, and often not adequate to allow readers to assess trial validity. Overall quality of reporting has not substantially improved since the publication of CONSORT.

Knowledge of dental trauma first aid (DTFA): the example of avulsed incisors in casualty departments and schools in London

Objective To investigate awareness and practices of dental trauma first aid (DTFA) in hospital emergency settings and in primary and secondary schools in London.Design A cross-sectional study using self-administered questionnaires and semi-structured interviews.Setting Primary and secondary schools and casualty/emergency and walk-in casualty centres in London in 2005.Subjects and methods A randomly selected sample of 125 schools and a total of 31 walk-in casualty centres, providing services for five randomly selected London boroughs. A person responsible for emergency care of children represented each of these study sites.Results Response rates of 81.6% and 87% were achieved for schools and casualty/emergency centres respectively. The school respondents who had previously received advice on DTFA were three times more likely to be willing to replant an avulsed tooth compared to those who had not. A third of casualty personnel showed gaps in knowledge in DTFA. Results from schools showed an unwillingness to start emergency action mainly due to perceived inadequacy in knowledge/skills and also for legal reasons.Conclusion There is the need for further studies focused on the barriers resulting in unwillingness to provide DTFA among school personnel and clarification regarding issues of responsibility and acceptable levels of competence of professionals other than dentists.

Radiographic study of delayed tooth development in patients with dental agenesis

INTRODUCTION The aims of this study were to compare the radiographic development of permanent teeth in a group of children affected by dental agenesis with an unaffected control group and to determine the effects of confounding factors including the severity of the dental agenesis, age, sex, ethnicity, and the number of stages used to estimate dental age. METHODS A single-center retrospective cross-sectional study of dental panoramic tomographs was undertaken between July 2007 and April 2008 in a postgraduate teaching school. A total of 139 patients (aged 9-18 years) were recruited from the orthodontic clinic on the basis of predetermined inclusion and exclusion criteria to either a dental agenesis group or a control group. Dental panoramic tomograms were assessed, and the stages of development of the permanent teeth in the left maxillary and left mandibular regions were scored by using the 12 stages of Haavikko and the 8 stages of Demirjian and Goldstein. For each tooth scored, the mean dental age and standard error were determined by using the dental age assessment method, and an estimated dental age for each subject was derived by using the weighted average method. RESULTS A statistically significant delay in dental age was found in the patients with dental agenesis compared with the control group. The dental age assessment method of Haavikko showed a delay of 1.20 years (SD, 1.74), and the method of Demirjian and Goldstein showed a delay of 1.64 years (SD, 1.75). It was also observed that older patients with dental agenesis had greater delays in tooth formation (P <0.001). With the Haavikko method, for every year of chronologic age, the delay in dental age increased by 0.53 year; with the Demirjian and Goldstein method, the delay increased by 0.48 year. A significant association was seen between the severity of dental agenesis and the delay in dental age (P <0.01). With both methods, for each additional developmentally absent tooth, the dental age was delayed by 0.13 year (lower confidence interval, -0.22; upper confidence interval, 0.35). There was no evidence that sex or ethnicity has an effect on the delay in dental age in patients with dental agenesis. CONCLUSIONS The development of permanent teeth in children with dental agenesis is delayed when compared with a matched control group. The severity of dental agenesis affected the magnitude of the delay (P <0.01). This delay has implications in orthodontic treatment planning and in the estimation of age for legal, immigration, archaeological, and forensic purposes.

How do children with amelogenesis imperfecta feel about their teeth

BACKGROUND Amelogenesis imperfecta (AI) is an inherited dental condition affecting enamel, which can result in significant tooth discolouration and enamel breakdown, requiring lifelong dental care. The possible impact of this condition on children and adolescents from their perspectives is not fully understood. AIMS The aim of the study was to explore the impact of AI on children and adolescents through in-depth interviewing. The information derived from this was then used to construct a questionnaire to distribute to a larger cohort of AI patients. DESIGN This research involved semistructured in-depth interviews with seven AI patients, and common themes and concepts were then identified using framework analysis. A questionnaire was developed based on the themes and subthemes identified, and completed by 40 AI patients at various stages of treatment. RESULTS Children and adolescents with AI exhibited concerns regarding aesthetics and function. Patients also expressed a high level of concern regarding comments by other people and self-consciousness associated with this. A small number of AI patients highlighted the effect of their dental treatment and health on their personal life. CONCLUSION The results indicate that there are marked impacts on children and adolescents as a result of AI, including aesthetics, function, and psychosocial.

A survey of attitudes, knowledge and practice of dentists in London towards child protection. Are children receiving dental treatment at the Eastman Dental Hospital likely to be on the child protection register?

Objective To investigate the attitudes, knowledge and practices of general dental practitioners (GDPs), specialists and consultants in paediatric dentistry in London, towards child protection. Additionally, to determine if children attending paediatric dental casualty at the Eastman Dental Hospital (EDH) and those who need treatment of caries under general anaesthesia (GA) are on the child protection register (CPR).Design The survey was conducted by postal questionnaires with 14 closed questions. A total of 228 dentists were invited to participate in the study. Children who attended EDH and required treatment under GA or at paediatric dental casualty were checked against the CPR.Results The respond rate was 46% (105/228). Overall 15% (16/105) of dentists had seen at least one patient with suspected child abuse in the last six months, but only 7% (7/105) referred or reported cases to child protection services. Reasons for dentists not referring included: fear of impact on practice (10%; 11/105); fear of violence to child (66%; 69/105); fear of litigation (28%; 29/105); fear of family violence against them (26%; 27/105); fear of consequences to the child (56%; 59/105); lack of knowledge regarding the procedures for referral (68%; 71/105); and lack of certainty about the diagnosis (86%; 90/105). Of the 220 children attending for dental GA and casualty from October 2004 to March 2005, one child was found to be on the CPR.Conclusion More information and training is required to raise awareness of the potential importance of the role of dentists in child protection. Improved communication between dental and medical departments is important for safeguarding children.

Case report: Macrodont mandibular second premolars, a hereditary dental anomaly

BackgroundMacrodontia or megadontia is a rare dental anomaly that refers to teeth that appear larger than normal. Generalised macrodontia may be associated with certain medical conditions and syndromes. Isolated macrodontia involves single teeth, might be the result of teeth fusion and is mainly seen in the incisor area.Case reportsThis paper describes two unrelated cases presenting with bilateral macrodont second lower premolars and the treatment provided. One case demonstrated the anomaly in both the patient and his father.ConclusionThis case report suggests for the first time in the literature the genetic aetiology and heritability, as a possible autosomal dominant trait, of this rare dental anomaly.

Optical coherence tomography use in the diagnosis of enamel defects.

Abstract. Molar incisor hypomineralization (MIH) affects the permanent incisors and molars, whose undermineralized matrix is evidenced by lesions ranging from white to yellow/brown opacities to crumbling enamel lesions incapable of withstanding normal occlusal forces and function. Diagnosing the condition involves clinical and radiographic examination of these teeth, with known limitations in determining the depth extent of the enamel defects in particular. Optical coherence tomography (OCT) is an emerging hard and soft tissue imaging technique, which was investigated as a new potential diagnostic method in dentistry. A comparison between the diagnostic potential of the conventional methods and OCT was conducted. Compared to conventional imaging methods, OCT gave more information on the structure of the enamel defects as well as the depth extent of the defects into the enamel structure. Different types of enamel defects were compared, each type presenting a unique identifiable pattern when imaged using OCT. Additionally, advanced methods of OCT image analysis including backscattered light intensity profile analysis and enface reconstruction were performed. Both methods confirmed the potential of OCT in enamel defects diagnosis. In conclusion, OCT imaging enabled the identification of the type of enamel defect and the determination of the extent of the enamel defects in MIH with the advantage of being a radiation free diagnostic technique.