Adult attitudes to sustainable dentistry in Trinidad and Tobago and their willingness to accept alternatives.

INTRODUCTION: Attitudes towards and willingness to accept alternatives for sustainable dentistry in Trinidad and Tobago have never been assessed. Market research aids in the understanding of the behaviours of people. Since change can be enacted by public pressure, it is worth engaging the public through research to understand their attitudes and which changes they are willing to accept. METHOD: A self-administered questionnaire was distributed to private and public dental clinics. The questionnaire assessed attitude towards and willingness to accept alternatives which decrease the effect of dental treatment on the environment. RESULTS: The study consisted of 1267 participants. Participants were mostly female, older, employed and mainly of African descent. Participants reported a very positive attitude towards sustainable dentistry (Mean = 3.89, SD = 0.8). and were moderately willing to accept alternatives such as a longer appointment time (Mean 3.47, SD = 0.73) and pay more for their dental treatments (Mean=3.00, SD = 0.87). There was a strong positive correlation with attitudes to sustainable dentistry and participants willingness to accept alternatives such as a longer appointment time (r = 0.658, p < 0.05). CONCLUSION: The adult population had an overall positive attitude towards sustainable dentistry and was willing to accept alternatives so that their dental treatment would have less impact on the environment.

Could retaining the dental recall interval save NHS dentistry?

The World Health Assembly in May 2021 was a watershed moment in oral health, with the landmark resolution that designated oral diseases as non-communicable diseases (NCDs). This was strongly supported by a host of other NCDs in recognition of the common risk factor principle and acknowledgement of the fact that oral diseases do not occur in isolation from other NCDs, but are commonly associated with cardiovascular disease, diabetes/obesity, respiratory diseases, metabolic syndrome, a range of other inflammatory disorders and cancers. Regular monitoring and early detection would potentially intercept these NCDs and this could form a central plank of a revamped holistic 'health'- as opposed to 'disease'-oriented health care system.Consultation with patients and dentists reveals strong support for maintaining regular recall intervals, which maintains trust and optimises motivation and compliance. In-person visits could be minimised by using technology, such as remote consultations and longitudinal monitoring systems, making it adaptable to different health care settings and equitable, affordable, cost-effective and sustainable.A new paradigm with dentists as oral health professionals, and the mainstreaming of oral health and population-level prevention, means the future of health care can be guided by integration and workforce modification producing a surveillance-based, early interceptive, preventive model of care.

Shared genetic risk between major orofacial cleft phenotypes in an African population.

Nonsyndromic orofacial clefts (NSOFCs) represent a large proportion (70%-80%) of all OFCs. They can be broadly categorized into nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO). Although NSCL/P and NSCPO are considered etiologically distinct, recent evidence suggests the presence of shared genetic risks. Thus, we investigated the genetic overlap between NSCL/P and NSCPO using African genome-wide association study (GWAS) data on NSOFCs. These data consist of 814 NSCL/P, 205 NSCPO cases, and 2159 unrelated controls. We generated common single-nucleotide variants (SNVs) association summary statistics separately for each phenotype (NSCL/P and NSCPO) under an additive genetic model. Subsequently, we employed the pleiotropic analysis under the composite null (PLACO) method to test for genetic overlap. Our analysis identified two loci with genome-wide significance (rs181737795 [p = 2.58E-08] and rs2221169 [p = 4.5E-08]) and one locus with marginal significance (rs187523265 [p = 5.22E-08]). Using mouse transcriptomics data and information from genetic phenotype databases, we identified MDN1, MAP3k7, KMT2A, ARCN1, and VADC2 as top candidate genes for the associated SNVs. These findings enhance our understanding of genetic variants associated with NSOFCs and identify potential candidate genes for further exploration.

Utilising massive open online courses to enhance global learning dissemination in cleft lip and palate: a case report of penta helix collaboration.

BACKGROUND: Educating and raising awareness in cleft lip and palate future generations is one vital effort to ensure the improvement of cleft care and research in the future. This study reported the overview in organising and evaluating the Massive Open Online Course (MOOC) in Cleft Lip and Palate as the alternative way for students' capacity building outside their study program whilst also earning credits towards their studies. METHODS: Smile Train cleft charity generously donated recorded lectures from cleft experts around the world in which each of the experts agreed to provide one-hour live discussion sessions. The learning activities ranging from lectures, pre- and post-course evaluation, forum, live discussion sessions, virtual visits to Indonesian Cleft Centre, self-reflection assignments and final project. A survey was released to the participants to collect their feedback. RESULTS: The course mainly attracted dental students, and several allied health professional students. In total, 414 out of 717 participants registered for this MOOC managed to finish the course and received a certificate of completion which was run between August-October 2021. In general, participants positively received the course. CONCLUSIONS: The MOOC model and its objective of disseminating widespread information across geographical boundaries to enhance learning about cleft lip and palate treatment was achieved. This report serves as an example for other educational institutions and stakeholders who plan to use online educational engagement platforms to provide high-quality education and capacity building to participants in lower-middle income countries.

Rare Variants Analyses Suggest Novel Cleft Genes in the African Population.

Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFC. Rare variants have been implicated in the missing heritability. Thus, our study aimed to identify genes enriched with nonsynonymous rare coding variants associated with NSOFCs. Our sample included 814 non-syndromic cleft lip with or without palate (NSCL/P), 205 non-syndromic cleft palate only (NSCPO), and 2150 unrelated control children from Nigeria, Ghana, and Ethiopia. We conducted a gene-based analysis separately for each phenotype using three rare-variants collapsing models: (1) protein-altering (PA), (2) missense variants only (MO); and (3) loss of function variants only (LOFO). Subsequently, we utilized relevant transcriptomics data to evaluate associated gene expression and examined their mutation constraint using the gnomeAD database. In total, 13 genes showed suggestive associations (p = E-04). Among them, eight genes (ABCB1, ALKBH8, CENPF, CSAD, EXPH5, PDZD8, SLC16A9, and TTC28) were consistently expressed in relevant mouse and human craniofacial tissues during the formation of the face, and three genes (ABCB1, TTC28, and PDZD8) showed statistically significant mutation constraint. These findings underscore the role of rare variants in identifying candidate genes for NSOFCs.

Perceptions and beliefs of community gatekeepers about genomic risk information in African cleft research.

BACKGROUND: A fundamental ethical issue in African genomics research is how socio-cultural factors impact perspectives, acceptance, and utility of genomic information, especially in stigmatizing conditions like orofacial clefts (OFCs). Previous research has shown that gatekeepers (e.g., religious, political, family or community leaders) wield considerable influence on the decision-making capabilities of their members, including health issues. Thus, their perspectives can inform the design of engagement strategies and increase exposure to the benefits of genomics testing/research. This is especially important for Africans underrepresented in genomic research. Our study aims to investigate the perspectives of gatekeepers concerning genomic risk information (GRI) in the presence of OFCs in a sub-Saharan African cohort. METHODS: Twenty-five focus group discussions (FGDs) consisting of 214 gatekeepers (religious, community, ethnic leaders, and traditional birth attendants) in Lagos, Nigeria, explored the opinions of participants on genomic risk information (GRI), OFC experience, and the possibility of involvement in collaborative decision-making in Lagos, Nigeria. Transcripts generated from audio recordings were coded and analyzed in NVivo using thematic analysis. RESULTS: Three main themes-knowledge, beliefs, and willingness to act-emerged from exploring the perspective of gatekeepers about GRI in this group. We observed mixed opinions regarding the acceptance of GRI. Many participants believed their role is to guide and support members when they receive results; this is based on the level of trust their members have in them. However, participants felt they would need to be trained by medical experts to do this. Also, religious and cultural beliefs were crucial to determining participants' understanding of OFCs and the acceptance and utilization of GRI. CONCLUSIONS: Incorporating cultural sensitivity into public engagement could help develop appropriate strategies to manage conflicting ideologies surrounding genomic information in African communities. This will allow for more widespread access to the advances in genomics research in underrepresented populations. We also recommend a synergistic relationship between community health specialists/scientists, and community leaders, including spiritual providers to better understand and utilize GRI.

Parents and Provider Perspectives on the Return of Genomic Findings for Cleft Families in Africa.

BACKGROUND: Inadequate knowledge among health care providers (HCPs) and parents of affected children limits the understanding and utility of secondary genetic findings (SFs) in under-represented populations in genomics research. SFs arise from deep DNA sequencing done for research or diagnostic purposes and may burden patients and their families despite their potential health importance. This study aims to evaluate the perspective of both groups regarding SFs and their choices in the return of results from genetic testing in the context of orofacial clefts. METHODS: Using an online survey, we evaluated the experiences of 252 HCPs and 197 parents across participating cleft clinics in Ghana and Nigeria toward the return of SFs across several domains. RESULTS: Only 1.6% of the HCPs felt they had an expert understanding of when and how to incorporate genomic medicine into practice, while 50.0% agreed that all SFs should be returned to patients. About 95.4% of parents were willing to receive all the information from genetic testing (including SFs), while the majority cited physicians as their primary information source (64%). CONCLUSIONS: Overall, parents and providers were aware that genetic testing could help in the clinical management of diseases. However, they cited a lack of knowledge about genomic medicine, uncertain clinical utility, and lack of available learning resources as barriers. The knowledge gained from this study will assist with developing guidelines and policies to guide providers on the return of SFs in sub-Saharan Africa and across the continent.

Age at primary surgery among orofacial cleft individuals in Indonesia.

OBJECTIVES: To observe the age at primary cleft surgery among charity organizations such as Smile Train in helping Indonesia manage patients with OFC. MATERIALS AND METHODS: A retrospective analysis of medical records was conducted to identify patients with orofacial clefts who underwent primary surgery between 2001 and 2021. The age at the time of surgery was recorded for each patient. Descriptive statistics were used to analyse the data and determine the average age at primary surgery. RESULTS: In the period between 2001 and 2021, a total of 34 239 individuals in Indonesia underwent primary lip surgery, while 16 768 individuals received primary palatal surgery, as recorded in the Smile Train database. Notably, a significant proportion of these surgeries were classified as delayed primary repairs. Approximately 65.3% of primary lip surgeries were performed beyond the recommended timeline of 6 months of age, indicating a delay in the surgical intervention. Similarly, 67% of primary palatal surgeries were also delayed, occurring after the recommended timeline of 18 months of life. CONCLUSIONS: This study provides insights into the age at primary surgery among individuals with orofacial clefts in Indonesia. The findings highlight the need for timely intervention and the importance of considering individualized treatment plans based on the specific type of orofacial cleft. Further research is warranted to explore factors influencing the age at primary surgery and their impact on treatment outcomes and long-term functional outcomes in this population.

Helping general dental practitioners use the Index of Orthodontic Treatment Need: an assessment of available educational apps.

Introduction The Index of Orthodontic Treatment Need (IOTN) defines who receives treatment on the NHS. The British Orthodontic Society developed the 'Easy IOTN' app to help the dental team use IOTN more effectively.Aim This study aims to investigate the quality of the 'Easy IOTN' app and any alternative mobile apps developed to aid a dentist's ability to use IOTN.Materials and methods The App Store and Google Play were searched to identify available apps which provide an educational resource for IOTN. Any app identified was assessed using the Mobile App Rating Scale (MARS) and the Royal College of Physicians' health informatics unit checklist. The 'Easy IOTN' app continuous professional development (CPD) section was assessed for accuracy using a focus group.Results Only the 'Easy IOTN' app was identified. It has a mean MARS score of 3.6. Significant inaccuracies were found within the CPD component of the 'Easy IOTN' app.Discussion A mean MARS score of 3.6 is deemed average and is comparable to the quality of other orthodontic apps which exist. Errors contained within the CPD component could confuse users and have a negative impact on IOTN skill development.Conclusions The educational component of the 'Easy IOTN' app is of an acceptable standard, but the CPD section is flawed.

Situational analysis of nutritional status among 1899 children presenting with cleft lip and/or palate in Indonesia.

Background: Given the increased risk of malnutrition in children with cleft lip and/or palate (CLP), determining their nutritional status is critical for preventing adverse surgical risks. However, no such disaggregated, national-level data are available in Indonesia. We aimed to determine the nutritional status of patients with clefts in Indonesia and to identify problems and solutions for malnutrition cases within the population. Methods: In this cross-sectional study, we considered records of individuals who underwent primary surgery for CLP in Smile Train-sponsored facilities in Indonesia between 1 January 2016 and 31 December 2021 (n = 18 480). We only included children under the age of five with an evaluation date prior to admission date and excluded subjects with invalid data values. We classified their nutritional status by z-scores according to the World Health Organization Child Growth Standard (2006). Malnutrition cases cover four indicators - stunting, wasting, underweight, and overweight. We compared the prevalence for malnutrition cases in children under the age of five using national health survey data. Results: We included 1899 records following data validation. The national prevalence of stunting (24.4%), wasting (12.5%), and overweight cases (12.9%) was high, while underweight cases (6.8%) were comparatively low. Statistical analyses showed significant differences in nutritional status based on length/height-for-age between girls and boys aged 0-5 months (P = 0.008) and 48-60 months (P = 0.001), and based on body mass index-for-age (P = 0.000) between girls and boys aged 0-5 months. Girls in different age groups exhibited a statistically significant difference in nutritional status based on length/height-for-age (P = 0.002) and weight-for-age (P = 0.017). Concurrent stunting and overweight were the most common forms of concurrent malnutrition (8.7%). We found a significant difference in the prevalence of underweight (P = 0.001) and overweight (P = 0.000) cases between children with CLP and those without CLP. Conclusions: Our findings highlight the importance of nutritional interventions for children with orofacial clefts in Indonesia, and the importance of age and gender in their design and implementation. Further investigation is necessary to explore the risks of overweight and concurrent malnutrition among this population.

Scoping review of outcome measures in cleft care used in research and reports.

Treatment outcome measures are critical in the decision making of best practices in the OFC field. OFC consortium working groups provided standardization of outcome measures based on previous treatment outcome studies. However, the implementation of such standardization in OFC centres worldwide is unknown. This study presented mapped outcome measures in cleft care using a structured review method complemented by quantitative overview of the relevant published research to provide initial guidelines for the implementation of treatment outcome standardization. A scoping review of the literature of treatment outcomes in cleft care following Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews guidelines was performed. The selected indexed paper in outcome measures mapped following the international consortium in standard set of outcome measures in cleft care. Three hundred and sixty-five articles were filtered. The most discussed domains of cleft care were dental and oral health, appearance and speech/communication. Overall, the majority of publications were produced in high-income countries. The current review indicates that there are inequalities of treatment outcome studies among the domain of cleft care. In addition, there are also inequalities of published articles from HIC versus LMIC in treatment outcomes. This information can be used to develop targeted interventions aimed at encouraging cleft centres worldwide to adapt standardized outcome measures.

Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.

INTRODUCTION: The frequency and implications of secondary findings (SFs) from genomic testing data have been extensively researched. However, little is known about the frequency or reporting of SFs in Africans, who are underrepresented in large-scale population genomic studies. The availability of data from the first whole-genome sequencing for orofacial clefts in an African population motivated this investigation. METHODS: In total, 130 case-parent trios were analyzed for SFs within the ACMG SFv.3.0 list genes. Additionally, we filtered for four more genes (HBB, HSD32B, G6PD and ACADM). RESULTS: We identified 246 unique variants in 55 genes; five variants in four genes were classified as pathogenic or likely pathogenic (P/LP). The P/LP variants were seen in 2.3% (9/390) of the subjects, a frequency higher than ~1% reported for diverse ethnicities. On the ACMG list, pathogenic variants were observed in PRKAG (p. Glu183Lys). Variants in the PALB2 (p. Glu159Ter), RYR1 (p. Arg2163Leu) and LDLR (p. Asn564Ser) genes were predicted to be LP. CONCLUSION: This study provides information on the frequency and pathogenicity of SFs in an African cohort. Early risk detection will help reduce disease burden and contribute to efforts to increase knowledge of the distribution and impact of actionable genomic variants in diverse populations.

Global perspectives in orofacial cleft management and research.

Orofacial clefts (OFCs) refer to clefts of the lip and palate, a heterogeneous group of relatively common congenital conditions that can cause mortality and significant disability if untreated, and residual morbidity even when treated with multidisciplinary care. Contemporary challenges in the field include: lack of awareness of OFCs in remote, rural and impoverished populations; uncertainties due to lack of surveillance and data gathering infrastructure; inequitable access to care in some parts of the world; and lack of political will combined with lack of capacity to prioritise research.OFCs present clinically as either syndromic or non-syndromic, with the latter either being isolated or in conjunction with other malformations; however, many registries still do not differentiate between these fundamentally different entities and lump a spectrum of cleft types and sub-phenotypes together. This has implications for treatment, research and ultimately, quality improvement.This paper deals with the challenges in contemporary management in terms of care and the prospects and possibilities for primary prevention of non-syndromic clefts. In terms of management and optimal care, there are also challenges in the provision of multi-disciplinary treatment and management of the consequences of being born with OFCs, such as dental caries, malocclusion and psychosocial adjustment.

Core outcomes for orofacial clefts: reconciling traditional and ICHOM minimum datasets.

OBJECTIVE/DESIGN/SETTING: This retrospective study sought voluntary participation from leading cleft centres from Europe and Brazil regarding core outcome measures. The results of this study would inform the debate on core outcome consensus pertaining to the European Reference Network for rare diseases (ERN CRANIO) and achieve a core outcome set for cleft care providers worldwide. INTERVENTION/METHOD: Five orofacial cleft (OFC) disciplines were identified, within which all of the International Consortium of Health Outcomes Measurement (ICHOM) outcomes fall. One questionnaire was designed for each discipline and comprised 1. the relevant ICHOM's outcomes within that discipline, and 2. a series of questions targeted to clinicians. What core outcomes are currently measured and when, did these align with the ICHOM minimum, if not how did they differ, and would they recommend modified or additional outcomes?. RESULTS: For some disciplines participants agreed with the ICHOM minimums but urged for earlier and more frequent intervention. Some clinicians felt that some of the ICHOM standards were compatible but that different ages were preferred and for others the ICHOM standards were acceptable but developmental stages should be preferred to absolute time points. CONCLUSION/IMPLICATIONS: Core outcomes for OFC were supported in principle but there are differences between the ICHOM recommendations and the 2002 WHO global consensus. The latter are established in many centres with historical archives of OFC outcome data, and it was concluded that with some modifications ICHOM could be moulded into useful core outcomes data for inter-centre comparisons worldwide.

A multi-program analysis of cleft lip with cleft palate prevalence and mortality using data from 22 International Clearinghouse for Birth Defects Surveillance and Research programs, 1974-2014.

BACKGROUND: Cleft lip with cleft palate (CLP) is a congenital condition that affects both the oral cavity and the lips. This study estimated the prevalence and mortality of CLP using surveillance data collected from birth defect registries around the world. METHODS: Data from 22 population- and hospital-based surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) in 18 countries on live births (LB), stillbirths (SB), and elective terminations of pregnancy for fetal anomaly (ETOPFA) for CLP from 1974 to 2014 were analyzed. Prevalence and survival (survival for LB only) estimates were calculated for total and subclassifications of CLP and by pregnancy outcome. RESULTS: The pooled prevalence of total CLP cases was 6.4 CLP per 10,000 births. The prevalence of CLP and all of the pregnancy outcomes varied across programs. Higher ETOPFA rates were recorded in most European programs compared to programs in other continents. In programs reporting low ETOPFA rates or where there was no ascertainment of ETOPFA, the rate of CLP among LB and SB was higher compared to those where ETOPFA rates were ascertained. Overall survival for total CLP was 91%. For isolated CLP, the survival was 97.7%. CLP associated with multiple congenital anomalies had an overall survival of 77.1%, and for CLP associated with genetic/chromosomal syndromes, overall survival was 40.9%. CONCLUSIONS: Total CLP prevalence reported in this study is lower than estimates from prior studies, with variation by pregnancy outcomes between programs. Survival was lower when CLP was associated with other congenital anomalies or syndromes compared to isolated CLP.

Accuracy and reliability of automated three-dimensional facial landmarking in medical and biological studies. A systematic review.

BACKGROUND: 3D facial landmarking is becoming a fundamental part of clinical and biological applications. Manual landmarking is time consuming and prone to cumulative errors, so attempts have been made to automate 3D facial landmarking. However, data in the literature are sparse. OBJECTIVES: The objectives of this study are to investigate current evidence for the accuracy and reliability of various 3D facial automated landmarking methods used in medical and biological studies and evaluate their performance against the manual annotation method. SEARCH METHODS: Electronic and manual searches of the literature were performed in April 2021. SELECTION CRITERIA: Only studies that were published in English and evaluated the accuracy of automated landmarking algorithms in 3D facial images for medical or biological settings were included. DATA COLLECTION AND ANALYSIS: Two authors independently screened the articles for eligibility. The QUADAS-2 tool was used for the quality analysis of the included studies. Due to the heterogeneity of the selected studies, a meta-analysis was not possible, so a narrative synthesis of the findings was performed. RESULTS: From 1002 identified records, after applying the inclusion and exclusion criteria, 14 articles were ultimately selected, read, and critically analysed. Different algorithms were used for the automated 3D landmarking of various numbers of facial landmarks ranging from 10 to 29 landmarks. The average difference between the manual and automated methods ranged from 0.67 to 4.73 mm, and the best performance was achieved using deep learning models. Poor study design and inadequate reporting were found in the implementation of the reference standards and population selection for the intended studies, which could have led to overfitting of the tested algorithm. LIMITATIONS: This systematic review was limited by the quality of the included studies and uncovered several methodological limitations evident in the corresponding literature. CONCLUSION AND IMPLICATIONS: Compared to manual landmarking, automated Landmark localization of individual facial landmarks reported in the literature is not accurate enough to allow their use for clinical purposes. This result indicates that automatic facial landmarking is still developing, and further studies are required to develop a system that could match or exceed the performance of the current gold standard. REGISTRATION: PROSPERO: CRD42021241531.

Health Coaching-Based Interventions for Oral Health Promotion: A Scoping Review.

BACKGROUND: Health coaching-based interventions can support behaviour change to improve oral health. This scoping review aims to identify key characteristics of health coaching-based interventions for oral health promotion. METHODS: The Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews checklist and the Joanna Briggs Institute manual for evidence synthesis were used in this review. A search strategy using medical subject heading terms and keywords was developed and applied to search the following databases: CINAHL, Ovid, PubMed, Cochrane Library and Scopus. Thematic analysis was used to synthesise the data. RESULTS: Twenty-three studies met the inclusion criteria and were included in this review. These studies were predominantly based on health coaching and motivational interviewing interventions applied to oral health promotion. The following are the characteristics of health coaching-based interventions extracted from themes of the included studies: (a) Health professionals should be trained on the usage of motivational interviewing/health coaching interventions; (b) oral health professionals should acquire motivational techniques in their practice to engage patients and avoid criticisms during the behaviour change process; (c) routine brief motivational interviewing/health coaching intervention sessions should be introduced in dental clinics; (d) traditional oral health education methods should be supplemented with individually tailored communication; and (e) for cost-effectiveness purposes, motivational interviewing/health coaching strategies should be considered. CONCLUSIONS: This scoping review reveals that health coaching-based techniques of health coaching and motivational interviewing can significantly impact oral health outcomes and behaviour change and can improve oral health professional-patient communication. This calls for the use of health coaching-based techniques by dental teams in community and clinical settings. This review highlights gaps in the literature, suggesting the need for more research on health coaching-based intervention strategies for oral health promotion.

Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.

BACKGROUND: To date, there are over 320 variants identified in the IRF6 gene that cause Van der Woude syndrome or popliteal pterygium syndrome. We sequenced this gene in a South African orofacial cleft cohort to identify the causal IRF6 variants in our population. METHOD: Saliva samples from 100 patients with syndromic and non-syndromic CL ± P were collected. Patients were recruited from the cleft clinics at two public, tertiary hospitals in Durban, South Africa (SA), namely Inkosi Albert Luthuli Central Hospital (IALCH) and KwaZulu-Natal Children's Hospital (KZNCH). We prospectively sequenced the exons of IRF6 in 100 orofacial cleft cases, and where possible, we also sequenced the parents of the individuals to determine the segregation pattern. RESULTS: Two variants were identified; one novel (p.Cys114Tyr) and one known (p.Arg84His) missense variant in IRF6 gene were identified. The patient with the p.Cys114Tyr variant was non-syndromic with no clinical VWS phenotype expected of individuals with IRF6 coding variants, and the patient with the p.Arg84His had phenotypic features of popliteal pterygium syndrome. The p.Arg84His variant segregated in the family, with the father also being affected. CONCLUSIONS: This study provides evidence that IRF6 variants are found in the South African population. Genetic counselling is essential for affected families, particularly in the absence of a known clinical phenotype since it helps with the plans for future pregnancies.

Classification Systems of Cleft Lip, Alveolus and Palate: Results of an International Survey.

OBJECTIVE: This study aimed to identify commonly used classification systems by cleft providers around the world, including the perceived indications and limitations of each system. DESIGN: A cross-sectional survey. PARTICIPANTS: A total of 197 registrants from three international cleft/craniofacial meetings. INTERVENTIONS: Participants were sent a web-based questionnaire concerning cleft classification systems. MAIN OUTCOME MEASURES: Frequency of commonly used classification systems, their perceived indications and limitations. RESULTS: A total of 197 respondents from 166 different centers completed the questionnaire. Healthcare professionals from all disciplines responded, with the most frequent respondents being plastic surgeons (38.1%), maxillofacial surgeons (28.4%) and orthodontists (23.9%). Eighteen different classification systems were in use. The most frequently used systems were the International Statistical Classification of Diseases and Related Health Problems (ICD-10) (35.5%), LAHSHAL (34.0%), and Veau (32.5%) classification systems. Most respondents (32.5%) indicated that anatomical and morphological characteristics are essential components of a classification system. However, respondents indicated that their current classification systems lacked sufficient description of cleft extension and severity. CONCLUSIONS: Great variety in the use of classification systems exists among craniofacial specialists internationally. The results recommend the usage of the LAHSHAL classification of OFCs, due to its comprehensiveness, relatively high implementation rate globally, convenience of usage and complementarity with the ICD-10 system. Moreover, it can overcome deficiencies inextricably linked to ICD-10, such as incapacity to describe laterality and clefts of the alveolus. More international exposure to the merits of using the LAHSHAL classification system would be highly recommended.