Cleft Lip and/or Palate: Children's Experiences of Stigma in Colombia.

OBJECTIVE: Given prior craniofacial research reporting higher risk for negative social interactions, this study aimed to explore experiences of stigma described by children with cleft lip and/or palate (CL/P). DESIGN: Qualitative interviews were conducted with children in three sessions (totaling 90-180 min) using creative activities in their homes and/or and walking interviews in their neighborhood. Interview transcriptions were interpreted primarily with thematic analysis following theoretical frameworks of the stigmatization process and self-stigma concept. SETTING: Participants were recruited through Operation Smile Colombia. Interviews took place at children's homes and neighborhoods within three Colombian regions (Boyacá, Bogotá and Cundinamarca). PARTICIPANTS: Children (N = 12) with CL/P aged between 6-12 years were interviewed. RESULTS: Themes fit within the stigmatization process, starting with labeling and stereotyping, such as a range of mockery, and group separation by peers highlighting their not belonging and being socially 'other'. Status loss themes included negative appraisals of cleft-related differences and being perceived as 'ill' and 'imperfect'. Social exclusion themes reflected limited social interactions and loneliness. Self-stigma themes included shame about speaking with peers and anticipation of negative social interactions. CONCLUSIONS: The study results suggest that the process of stigmatization and self-stigma adversely affect social interactions for children with a cleft in multiple ways. Healthcare practitioners and policy makers can help address the potential consequences of stigma by implementing interventions at micro, meso and macro levels.

Religiosity and alcohol use in adolescents with orofacial cleft: correlational study.

OBJECTIVE: To evaluate the correlation between religiosity and alcohol use among adolescents with orofacial clefts. METHODS: Cross-sectional study, developed in a Brazilian public and tertiary hospital, between December 2021 and March 2022. Data collection was hybrid, and three instruments were used: Sociodemographic Questionnaire, Durel Religiosity Scale, and the Alcohol Use Disorders Identification Test. For statistical analysis, the following tests were used: χ2, Fisher's Exact, Mann-Whitney and Spearman's Correlation Coefficient, in addition to analyses of linear correlation strength and bivariate logistic regression. The significance level adopted for all tests was 5% (p≤0.05). RESULTS: 370 adolescents participated, with a mean age of 15.2 years (±1.8). Among them, 23 (5.4%) used alcohol riskly or harmfully, being more frequent among male adolescents (p=0.001), those of mixed race (p=0.046), attending high school (p=0.011), with no religion (p<0.001), or who did not attend religious services (p<0.001). Levels of organizational, non-organizational and intrinsic religiosity were significantly lower among adolescents with risky or harmful alcohol use (p=0.005; p<0.001 and p=0.002, respectively). There was a moderate correlation between risky or harmful alcohol use and non-organizational (r=0.31; p=0.002) and intrinsic (r=0.36; p<0.001) religiosity. Male adolescents (p<0.001; OR=6.58), closest in age to 18 years (p<0.001; OR=1.37), and non-practitioners of religion (p<0.001; OR=6. 48) presented higher odds of risky or harmful alcohol use. CONCLUSIONS: Adolescents with higher levels of organizational and intrinsic religiosity used less alcohol, while males, closest in age to 18 years, and non-practitioners of religion presented higher odds of using alcohol riskly or harmfully.

Genotyping of oral Candida albicans and Candida tropicalis strains in patients with orofacial clefts undergoing surgical rehabilitation by MALDI-TOF MS: Case-series study.

Patients with orofacial clefts are more likely to develop oral fungal diseases due to anatomo-physiological changes and surgical rehabilitation treatment. This case-series study evaluated the genetic diversity and dynamics of oral colonization and spread of C. albicans and C. tropicalis in four patients with orofacial clefts, from the time of hospital admission, perioperative and outpatient follow-up, with specialized physician. Candida biotypes previously identified by CHROMagar Candida and PCR methods were studied by MALDI-TOF MS assays and clustering analyses. Possible correlations with pathogenicity characteristics were observed, including production of hydrolytic exoenzymes and the antifungal sensitivity profiles. Amphotericin B-sensitive and fluconazole-resistant (low frequency) C. tropicalis and C. albicans, including clinically compatible MIC of nystatin, were found in the oral cavity of these patients. Clusters of isolates revealed phenomena of (i) elimination in the operative phase, (ii) maintenance or (iii) acquisition of oral C. tropicalis in the perioperative period and specialized outpatient and medical follow-up. For C. albicans, these phenomena included (i) elimination in the operative phase, (ii) acquisition in the operative phase and propagation from the hospital environment, and (iii) maintenance during hospitalization and operative phase. Amphotericin B and nystatin were shown to be effective in cases of clinical treatment and/or prophylaxis, especially considering the pre-existence of fluconazole-resistant strains. This study confirmed the phenomena of septic maintenance, septic neocolonization and septic elimination involving the opportunistic pathogens. MALDI-TOF MS associated with clustering analysis may assist the monitoring of clinical isolates or groups of epidemiologically important microbial strains in the hospital setting.

Timely Access for Orofacial Cleft Repairs in a Brazilian Amazon Center.

Orofacial clefts are the most common congenital craniofacial anomalies worldwide, and if not managed in a timely manner, can lead to significant complications. We aim to examine surgical timing at one of the few cleft care centers in the North region of Brazil since its foundation in 2016. This retrospective, descriptive study analyzed medical records from 2016 to 2023. We calculated the age at surgery for each time period and each primary surgery performed. We also evaluated the number of procedures performed outside the recommended age. Of the 1439 procedures performed from 2016 to 2023, 713 procedures met our inclusion criteria. Among these, 66.67% (n=188) of primary cheiloplasties, 67.80% (n=40) of primary lip adhesions, and 54.57% (n=203) of palatoplasties were performed outside the recommended time frame. Of the surgeries performed, 45.16% (n=322) were between 2016 and 2019, while 54.84% (n=391) were from 2020 to 2023. Considering procedures performed within the ideal recommended age groups, only 32.92% (n=106) were done between 2016 and 2019, in contrast to 45.01% (n=176) between 2020 and 2023. In conclusion, since the inception of the specialized center, there has been an increase in surgical volume and an improvement in their timing. However, many surgeries are still being conducted outside the recommended time frame.

Orofacial clefts in Costa Rica, 1996-2021: Analysis of surveillance data.

BACKGROUND: Orofacial clefts (OFCs) are among the most common birth defects (BD). In 2008, a series of improvements began in the Costa Rican Birth Defect Register Center (CREC). We aim to explore trends between 1996 and 2021. METHODS: A trend analysis of OFCs from 1996 to 2021 and a descriptive analysis of OFCs from 2010 to 2021 were performed based on data from the CREC, the national BD surveillance system. Prevalence at birth was calculated according to the type: cleft palate (CP), cleft lip with or without CP (CL ± P), and presentation (isolated, multiple non-syndromic, or syndromes). We used joinpoint regression to identify if a significant change in trend occurred; the average annual percent change (AAPC) was determined. Marginal means and prevalence ratios by subperiod (1996-2009 as referent and 2010-2021) were estimated using Poisson regression and compared using Wald's chi-square tests (α ≤.05). RESULTS: We found a significant AAPC for OFCs prevalence of +1.4: +0.6 for isolated, +2.9 for multiple non-syndromic, and +7.7 for syndromes (p < .05). When comparing the OFC's prevalence of the subperiod 2010-2021 (11.86 per 10,000) with 1996-2009 (9.36 per 10,000) the prevalence ratio was 1.3 (p < .01): 1.1 (p < .05) for isolated, 1.6 (p < .01) for multiple non-syndromic, and 3.3 (p < .01) for syndromes. The prevalence of OFCs from 2010 to 2021 was 9.1 for CL ± P and 2.8 for CP. Seventy-one percent of the OFCs were isolated, 22% multiple non-syndromic, and 7% syndromes. CONCLUSION: The trend in OFCs' prevalence is toward increasing, mainly due to improvements in the surveillance system.

Quantitative Assessment of Lip Morphology in Patients With and Without Cleft Lip and Palate Using 3-Dimensional Stereophotogrammetry.

This study aimed to assess and quantify the morphologic characteristics of the lips and the lower third of the face in cleft and noncleft patients, utilizing three-dimensional (3D) stereophotogrammetry. Sixty patients were included in the study, comprising 30 unilateral cleft lip and palate patients (G1, 24 female, 6 male; aged 20 to 60 y, mean age 44.0±12.0 y) and 30 noncleft patients (G2, 23 female, 7 male; aged 20 to 59 y, mean age 43.5±12.0 y). Anthropometric landmarks were identified on the facial surface. Three-dimensional stereophotogrammetry was employed to capture images. Statistical analysis was conducted to compare the groups, with a significance level set at 0.05. The comparative analysis revealed statistically significant differences in 5 linear and 6 angular measurements. Linear measurements such as philtrum width, upper and lower cutaneous lip height, mandibular ramus length, and midfacial depth exhibited significant differences between cleft and noncleft patients. Similarly, angular measurements, including upper lip angle, Cupid's bow angle, lower/medium face convexity, lip seal, nasolabial angle, and left gonial angle, displayed statistically significant disparities. These findings underscore the ongoing surgical challenges in the comprehensive rehabilitation of patients with clefts, highlighting the critical need for continued advancements in treatment strategies.

Maxillary arch dimensions in bilateral cleft lip and palate in the age 0-5 months.

INTRODUCTION: The complete bilateral cleft lip and palate (BCLP) divides the maxillary arch into three segments, separated from each other, resulting in abnormal growth of the alveolar arch. This study evaluated the maxillary arch dimensions in BCLP and compared them with neonates without craniofacial anomalies. METHODS: This retrospective study was conducted in a tertiary cleft centre. Sixty-six neonates aged 0-5 months were divided into two groups: cleft group-children with BCLP (23 boys and 18 girls) and control group-children without craniofacial deformities (15 boys and 10 girls). The dental models were processed by a 3D scanner. Landmarks were marked to achieve inter-canine distance, inter-tuberosity distance and arch length measurements. t-Tests were used for intergroup comparisons (p < .05). RESULTS: The maxillary cleft arch was demonstrated to be wider and longer in the posterior region compared to the control group. The inter-canine distance did not present differences between the cleft and controls. The inter-canine distance of the control group was the only measurement influenced by the variable sex. CONCLUSIONS: The cleft significantly interfered with the arch posterior width and arch sagittal length, making them larger. There was no statistical difference in the measurements between sex in the cleft group.

Research Trends in the Relationship Between Orofacial Cleft and Cancer: A Bibliometric and Network Visualization Study.

OBJECTIVE: To use the bibliographic data of publications regarding the association between orofacial cleft (OC) and cancer to examine the implications of publication growth, co-citation, co-words, and authorship networks using bibliometric indicators and network visualization. METHODS: Bibliometric study analyzed documents related to the association between OC and cancer. Data were obtained in October 2023 from the Scopus, Pubmed, Web of Science. The search strategy was developed, and data obtained were imported into R ("bibliometrix") for analysis. Results: 70 documents were found from 1977 to 2023. Most were journal articles (90.0%) designed as case-control studies (42.8%). American Journal of Epidemiology was the most relevant source. The most cited document was Frebourg T, et al. (2006). Vieira A, Martelli-Junior were the most cited author. Most authors were affiliated to Brazil (University of Montes Claros) and United States (University of Pittsburgh). Research in this thematic has included children and adults of both sexes. Research trend points to gastric cancer, leukemia and breast cancer as the most investigated cancers in association to OC. CONCLUSION: This bibliometric analysis helps fill research gaps regarding the knowledge of the relationship between OC and cancer, providing some clues for selecting future research in this topic.

Analysis of publications regarding the association between orofacial cleft and cancer highlighted: The majority of publications as journal articles (90.0%) designed as case­control studies (42.8%).American Journal of Epidemiology was the most relevant source.The most global cited documents were Frebourg T, et al. (2006).Vieira A, Martelli-Junior was the top author of the published literature and the most local cited author.Most of the authors were mainly affiliated to Universities from Brazil (University of Montes Claros) and United States (University of Pittsburgh).Motor themes of study include genetic association studies, investigating single nucleotides polymorphisms shared by OC and cancer types.Research in this thematic has included children and adults of both sexes. Research trend points to gastric cancer, leukemia and breast cancer as the most investigated cancers in association to OC.

Oronasal Fistula Closure and Defect Reconstruction: Two Case Reports Using Periodontal Plastic Surgery Principles.

OBJECTIVES: Oronasal fistulas are common sequelae following cleft lip and palate surgery and can significantly impact a patient's quality of life. They result from various factors, including surgical techniques, tissue management, and patient-specific factors. This case report explores the modern approach to oronasal fistula closure using periodontal plastic surgery principles. MATERIALS AND METHODS: The report presents two cases of patients with oronasal fistulas due to previous maxillofacial surgical intervention. These patients underwent microsurgical procedures that involved partial flap thickness preparation of the fistula areas, the use of connective tissue grafts from the palate, and meticulous suturing techniques to ensure graft integrity. The procedures were performed in stages, and postoperative care was provided. RESULTS: Both cases demonstrated successful fistula closure and graft survival. The patients reported improvements in breathing, speech, aesthetics, and quality of life. The second case also included guided bone regeneration and implant placement. CONCLUSIONS: Oronasal fistulas resulting from maxillofacial surgery can be effectively treated using periodontal plastic surgery techniques, significantly improving patients' quality of life and aesthetic outcomes. This approach represents a valuable addition to the existing repertoire of oronasal fistula closure methods.

Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil.

OBJECTIVE: The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil. METHODS: This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered. RESULTS: Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, p = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (p = 0.0581). CONCLUSIONS: Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC.

Prevalence and clinical characterization of oral clefts in patients with chromosome trisomy 18.

OBJECTIVE: To verify the prevalence and perform the clinical characterization of oral clefts in a sample of patients with trisomy of chromosome 18 in Southern Brazil. METHODS: This was a retrospective cross-sectional study, performed in a reference clinical genetic service in Southern Brazil. The initial sample consisted of 77 patients diagnosed in the neonatal period with trisomy 18 treated at the Clinical Genetics Service of a referral hospital at Federal University of Health Sciences of Porto Alegre (UFCSPA). The patients' diagnosis was confirmed by karyotype and care was provided during their stay in the intensive care unit (ICU) of the hospital that is a reference in Southern Brazil for care for malformed patients. The period covered was from 1975 to 2020. RESULTS: During the study period, 77 patients diagnosed with trisomy 18 were treated, most of them in the ICU. Of these, 13 individuals were excluded due to incomplete data. The final sample consisted of 64 patients with an average age of 2.4 years of life, ranging from one day to 16 years old, the majority of whom were female. Regarding face dysmorphisms identified in the sample, three (4,68%) patients had cleft lip and two (3,11%) had cleft lip and palate. CONCLUSIONS: This study contributed to the recognition of the characteristics and prevalence of oral clefts in individuals with trisomy 18 in a sample of patients from Southern Brazil. In addition, we described the clinical alterations found in patients with oral clefts, as well as other associated comorbidities, such as cardiac, neurological and pulmonary comorbidities, as well as cranial and facial dysmorphisms.

A systematic review of barriers to accessing cleft care worldwide.

PURPOSE: Patients with cleft lip/palate need an interdisciplinary approach. Delays in the care of these patients and difficulties in accessing health services have been reported in different low-, middle-, and high-income countries. This study aimed to characterize worldwide publications on access to cleft lip and palate health treatment. METHODS: Databases were selected systematically and searched until July 2021. The review process followed standard methods for systematic reviews. The study quality was evaluated using the Strengthening the Reporting of Observational studies in Epidemiology guidelines for observational studies. RESULTS: A total of 289 publications were identified using our search strategy. After reviewing the titles and reading the abstracts and full text, 16 studies met the inclusion criteria in the review. In one study, financial difficulties obtained the attention of the professionals who attended to cleft lip/palate patients. Ethnic disparities, problems in transportation, and long distances between users and health centers were found. Additionally, there was misinformation about treatment and follow-up among the caregivers of patients with cleft lip/palate. CONCLUSION: When reviewing the literature on access to health services for patients with cleft lip/palate, barriers were reported in access to information, physical access to care centers, financial resources to cover expenses for treatment, and opportunities in care.

Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.

BACKGROUND: Ellis-van Creveld syndrome (EvCS) is a chondroectodermal dysplasia caused by germline pathogenic variants in ciliary complex subunit 1 and 2 genes (EVC, EVC2) on chromosome 4p16.2. This disease has a broad phenotype, and there are few described phenotype-genotype correlations. METHODS: Ethical Compliance: Written informed consent was obtained from the parents. Here, we report a genetically confirmed Mexican patient with EvCS having two inherited pathogenic variants in trans in EVC2: c.[1195C>T];[2161delC]. RESULTS: This patient allowed a genotypic-phenotypic comparison with another Mexican subject who presented a more attenuated phenotype; furthermore, our patient also presented cleft palate, a rarely reported feature. CONCLUSION: Our case shows the importance of comparing functional hemizygosity between patient's phenotypes when they share a variant, and our case also supports the association of alterations in the palate as part of the EvCS phenotype.

Adolescents with orofacial clefts: understanding their experiences.

OBJECTIVE: To understand the experience of young people with orofacial clefts regarding life as an adolescent. METHODS: Descriptive, qualitative study, developed in a Brazilian public and tertiary hospital, a reference center in the care of patients with craniofacial anomalies and related syndromes, between February and April 2019. The sample was defined by theoretical saturation. The following inclusion criteria were established: age between ten and 19 years old and having previously operated on orofacial cleft (lip and/or palate). Individuals with fissure associated with syndromes or other malformations were excluded. Data collection was performed through semi-structured interviews, which were audio recorded and transcribed in full. The trigger element was: how has it been for you to experience your adolescence? For the construction of the results, content analysis was used in the thematic modality. RESULTS: Seventeen adolescents participated. From the speeches, three categories were revealed: interacting socially, feeling supported, and experiencing and facing prejudice. CONCLUSIONS: The biopsychosocial and conflicting complexity that adolescents with orofacial clefts experience was noticed, as well as the importance of receiving support and establishing modalities of situational coping.

Predisposing risk factors for cleft lip and palate in an Amazonian population by focusing on nutritional factors: A case-control study.

BACKGROUND: Orofacial clefts (OFC) are the most common congenital malformation of the craniofacial skeleton. Attempts have been made to correlate the components of maternal diet as triggers for the development or prevention of OFC. OBJECTIVE: To analyze nutritional status as a predictive factor for the development of cleft lip and palate in an Amazonian population. METHODS: A total of 152 mothers within 3 months of delivery were interviewed for comparison: 51 mothers of children with nonsyndromic cleft lip and palate (CLP) (study group) and 101 mothers of children without OFC (control group). A food frequency questionnaire was used to assess maternal nutrition and to analyze the influence of macro- and micronutrients on the possible predisposition or protection for CLP. RESULTS: The study group showed higher percentage of lipid intake than did the control group (p = 0.01). Among the participants with no family history of OFC, the study group had a higher percentage of lipid intake (p = 0.002) and lower vegetable intake (p = 0.037). Maternal micronutrient intake among the participants with a positive family history was lower in the study group for vitamins B2 (p = 0.03), B5 (p = 0.036), E (p = 0.03), and folate (p = 0.022). CONCLUSIONS: Nutritional analysis indicated that higher maternal lipid intake increased the likelihood of having offsprings with nonsyndromic CLP. Moreover, families with a history of OFC and low maternal folate intake showed heightened risk of nonsyndromic CLP in their offsprings.

Digital resources in the monitoring of patients with cleft lip and palate: protocol for a scoping review.

INTRODUCTION: Cleft lip and/or palate (CL+/-P) is a congenital malformation affecting the lip and palate, requiring long-term treatment due to potential associated complications. For this reason, it is important for the patient to be continuously monitored and followed for health promotion and prevention, as well as improving the quality of life. The aim of this scoping review protocol is to identify and map the available evidence regarding the application of digital resources and technologies in the monitoring and follow-up of patients with CL+/-P. METHODS AND ANALYSIS: This scoping review protocol follows the guidelines recommended by the Joanna Briggs Institute Manual, employing the PCC acronym (Patient/Concept/Context). Searches will be conducted, in May 2024, of PubMed, Web of Science, Scopus, Latin American and Caribbean Health Sciences Literature, ScienceDirect, as well as grey literature indexed in ProQuest Open Access Dissertations & Theses and Google Scholar. The review will consider all types of published studies, including grey literature, in English, Portuguese and Spanish languages, and will consider studies regardless of publication date. Exclusions will apply to studies that do not address the use of digital resources and technologies in CL+/-P monitoring and follow-up. ETHICS AND DISSEMINATION: As this is a scoping review, no ethics committee approval is required. After completion, the plan is to publish results in scientific journals on craniofacial malformations. STUDY REGISTRATION: Open Science Framework, DOI:10.17605/OSF.IO/Y6AG8.

Evaluation of facial pleasantness in patients with complete and unilateral cleft lip and palate rehabilitated and submitted to orofacial harmonization.

OBJECTIVE: The objective of the present prospective case control study was to evaluate the facial pleasantness of patients with complete and unilateral cleft lip and palate at the end of interdisciplinary rehabilitation, submitted to facial fillers based on hyaluronic acid. METHODS: The study group consisted of 18 individuals with complete unilateral cleft lip and palate, aged between 18 and 40 years (mean age 29 years) of both sexes. The patients presented a concave profile with mild to moderate maxillary deficiency, with completed orthodontic treatment and conducted by means of dentoalveolar compensations without orthognathic surgery. Participants underwent facial filling procedures with hyaluronic acid (HA) in the midface, inserted by a single operator. Standard photographs in frontal norm at rest, right profile at rest, and left profile at rest were obtained from each patient at the following operative times: (T1) pre-filler and (T2) and one-month post-filler. The photographs in T1 and T2 were randomly placed on a page of a virtual album. A 5-point Likert scale was used to assess facial pleasantness. The photographs were evaluated by two groups of evaluators consisting of 18 individuals with cleft lip and palate (CLPG=18) and 18 orthodontists with experience in the treatment of clefts (OG=18). For comparison between phases T1 and T2, and between evaluators with orofacial clefts and orthodontists, the Wilcoxon test was used (p<0,05). RESULTS: People with cleft lip and palate rated their face as more pleasant after the midface filling procedure. In the perception of the orthodontists, on the other hand, the facial pleasantness remained similar after the facial filling procedure. CONCLUSIONS: The filling of the middle third of the face in patients with cleft lip and palate treated without orthognathic surgery increased the pleasantness of the face in the opinion of laypeople with cleft lip and palate.