Inborn errors of metabolism and their impact in paediatric dentistry.

The management of paediatric patients with inborn errors of metabolism (IEM) presents an unparalleled challenge for paediatric dentists owing to the multiplex of interrelated dental manifestations and metabolic management necessitating modifications to dental care. Inborn errors of metabolism describe a largely heterogenous group of genetic disorders namely attributable to a single gene defect essential for a specific metabolic pathway. Approximately 400 disorders have been described with an overall incidence of 1 in 5000 live births worldwide. Clinical presentation is classically inconspicuous and insidious in the neonatal period with pathophysiology attributable to accumulation of toxic by-products which interfere with normal function, or insufficient synthesis of essential compounds. This paper aims to discuss the primary oral and maxillofacial manifestations across the scope of inborn errors of metabolism, whilst also considering how metabolic treatment has the propensity to complicate dental management.

SHORT Syndrome: Systematic Appraisal of the Medical and Dental Phenotype.

INTRODUCTION: SHORT syndrome is a rare autosomal dominant condition described by its acronym of short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger abnormality, and teething delay. Individuals have a distinct progeroid craniofacial appearance with a triangular face, frontal bossing, hypoplastic or thin alae nasi, large low-set ears, and mandibular retrognathia. OBJECTIVES: To systematically appraise the literature and update the clinical phenotype with emphasis on the dental condition. DESIGN: A systematic literature search was carried out to update the clinical phenotype, identifying reports of individuals with SHORT syndrome published after August 2015. The same search strategy but not limited to publication date was carried out to identify reports of the dental phenotype. Two independent reviewers screened 1937 articles with 55 articles identified for full-text review. RESULTS: Nineteen individuals from 11 families were identified. Facial dysmorphism including ocular depression, triangular shaped face, frontal bossing, large low-set ears, and micrognathia were the most consistent features followed by lipodystrophy, insulin resistance, and intrauterine growth restriction. Teething delay, microdontia, hypodontia, and enamel hypoplasia have all been reported. CONCLUSION: Features that comprise the SHORT acronym do not accurately or completely describe the clinical phenotype. The craniofacial appearance is one of the most consistent features. Lipodystrophy and insulin resistance may also be considered cardinal features. After teething delay, enamel hypoplasia and microdontia are the most common dental manifestations. We present recommendations for the dental and orthodontic/orthognathic management of individuals with SHORT syndrome.

X-linked hypophosphatemic rickets: Orthodontic considerations and management. A case report.

X-linked hypophosphatemic rickets (XLH) is a rare condition affecting bone metabolism. It has characteristic dental features such as poorly mineralised dentine, spontaneous abscess formation in the absence of caries and taurodontism. There are limited published data about patients with this condition undergoing orthodontic treatment, and there is no clear guideline on the suitability of orthodontic treatment in this cohort. We present a case report of a patient with XLH with a confirmed PHEX gene mutation undergoing orthodontic treatment and clinical recommendations to support treatment.

Failure of eruption of first permanent molar teeth: a diagnostic challenge.

Ankylosis, mechanical and primary failure of eruption of molar teeth are rare and often difficult to distinguish between. All may have significant repercussions on the occlusion and successful management may involve invasive procedures. We present a case where an initial presentation characteristic of mechanical failure of eruption (ankylosis) of a first permanent molar tooth was excluded following a period of monitoring. Subsequent relief of crowding using a removable and then sectional fixed orthodontic appliance allowed spontaneous eruption of the tooth obviating the need for surgical intervention. This case highlights the utilisation of conservative treatment options until a diagnosis was confirmed to minimise the risk of iatrogenic damage and unnecessary treatment.

An exploratory quality assessment of orthodontic clinical guidelines using the AGREE II instrument.

OBJECTIVES: Clinical guidelines act as a means of assisting clinicians in improving the quality of healthcare provided. We aim to assess the quality of currently available international orthodontic guidelines. MATERIALS AND METHODS: A cross-sectional systematic assessment of orthodontic clinical guidelines was undertaken. A Medline search using the keywords 'guideline', 'orthodontics', and 'dent', and search of specific dental and orthodontic organization websites for orthodontic-related clinical guidelines. Relevant guidelines published between 1999 and 2012 in English were identified. Draft guidelines and endorsements were excluded. The quality of each guideline was evaluated by a single calibrated assessor using the AGREE II instrument. Variation in the quality of guidelines produced by different organizations was also assessed. RESULTS: Seventeen guidelines were included in this study. Overall, the reporting of scope and purpose (84.31, 95% CI: 70.91-97.72) and clarity of presentation (75.49, 95% CI: 61.68-89.3) domains of the AGREE II instrument were deemed of high quality. Lower scores were obtained for the following domains: rigour of development (52.08, 95% CI: 37.59-66.57), editorial independence (47.06, 95% CI: 20.6-73.51), stakeholder agreement (46.41, 95% CI: 29.66-63.15), and applicability (27.45, 95% CI: 8.26-46.64). There was a noted difference in the individual domain scores of orthodontic guidelines produced by the different organizations. CONCLUSIONS: In relation to the AGREE II instrument, the quality of orthodontic guidelines for use in clinical practice are deemed sub-optimal. Variation in the quality of guidelines produced different organizations is evident.

Impact of dietary interventions in inborn errors of metabolism in paediatric dentistry: Review of the literature and case series.

Dietary modifications in certain IEMs are highly cariogenic, subsequently posing a significant risk to dental health. Multidisciplinary input is imperative to ensure metabolic dietary needs are met, whilst complementing dental preventive regimes.

Mucopolysaccharidosis (MPS): Review of the literature and case series of five pediatric dental patients.

Patients with MPS present with a plethora of dental manifestations, accompanying behavioral difficulties and medical comorbidities which often dictate the need for treatment in specialist centers. Prevention is therefore mandatory in this high-risk group.

Assessing the quality of dental clinical practice guidelines.

OBJECTIVES: The primary aim of this study was to evaluate the quality of published dental clinical guidelines using the AGREE II instrument. METHODS: Online searching of a wide range of organisations (national and International) was undertaken to identify dental clinical practice guidelines published between 2000 and 2014. The quality of each included guideline was assessed in relation to the AGREE II instrument by four assessors independently. Inter-rater agreement was assessed. Descriptive statistics and both univariate and multivariate analyses were conducted. RESULTS: 162 guidelines were identified. The overall mean quality score was 51.9% (SD 13.3). There was variation in the reporting quality of individual domains with both Applicability (20.4%) and Editorial Independence (34.25%) poorly reported. Variation between the overall quality scores for guidelines produced by different dental specialities was evident. The quality of guidelines improved per publication year (ß=0.76, 95% CI: 0.26, 1.26, p=0.003). Guidelines based on formal evidence (ß=19.94, 95% CI: 15.25, 24.64, p=0.001) achieved higher quality scores. CONCLUSION: Overall, the quality of clinical dental practice guidelines is suboptimal. There is variation in the overall quality, reporting of individual items and domains of the AGREE II instrument between different dental speciality clinical practice guidelines. Guidelines based on formal evidence achieved higher quality scores. CLINICAL SIGNIFICANCE: Clinicians should be aware of the variation in the quality of dental clinical guidelines in particular related to methodological rigour. The use of formal evidence may be a useful indicator of their quality prior to their implementation.