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BACKGROUND: This study evaluates a three-dimensional (3D) visualisation design combined with customized surgical guides to assist anterior maxillary segmental distraction osteogenesis (AMSDO) in correcting maxillary hypoplasia in adolescents with cleft lip and palate (CLP), focusing on treatment outcomes, satisfaction and the validity of 3D planning. METHODS: This retrospective cohort study was conducted at a single hospital in China. Between January 2020 and December 2023, 12 adolescents with CLP with maxillary hypoplasia were included. An advanced 3D simulation was used to convey the treatment strategy to the patients and their families. A customized surgical guide and distraction osteogenesis device were designed. Cephalometric analysis evaluated AMSDO changes and long-term stability. Patient satisfaction was assessed. The Chinese version of the Child Oral Health Impact Profile was used to evaluate the children's oral health-related quality of life before and after treatment. The postoperative outcomes were compared with the planned outcomes by superimposing the actual postoperative data onto the simulated soft tissue models and calculating the linear and angular differences between them. RESULTS: One patient experienced postoperative gingivitis, yielding an 8.33% complication rate. Most patients (83.33%) were highly satisfied with the target position, with the rest content. Cephalometric analysis showed significant improvements in various indices post-traction. Quality-of-life scores significantly improved post-treatment. The discrepancies in facial soft tissue between the simulated and actual results were within clinically satisfactory ranges. CONCLUSIONS: Digitally designed surgical guides effectively treat maxillary hypoplasia in adolescents with CLP, ensuring stability, reducing complications, reducing dependency on operator experience, and enhancing satisfaction and health outcomes. Although the simulated results were clinically acceptable, it is important to inform patients of potential variations in the predicted soft tissue.
Subject(s)
Cleft Lip , Cleft Palate , Imaging, Three-Dimensional , Maxilla , Osteogenesis, Distraction , Humans , Cleft Lip/surgery , Cleft Lip/complications , Adolescent , Cleft Palate/surgery , Cleft Palate/complications , Osteogenesis, Distraction/methods , Retrospective Studies , Female , Male , Maxilla/abnormalities , Maxilla/surgery , Imaging, Three-Dimensional/methods , Treatment Outcome , Patient Satisfaction , Cephalometry , Quality of Life , ChildABSTRACT
OBJECTIVES: To evaluate the effects of bone-anchored maxillary protraction (BAMP) treatment and longterm stability in growing cleft lip and palate and isolated cleft palate (CLP/CP) patients with mild maxillary hypoplasia and to compare maxillary growth patterns of BAMP-treated patients to matched control CLP/CP patients. MATERIALS AND METHODS: Ten patients with CLP/CP were treated with BAMP; they were compared to the maxillary growth pattern of 10 age-matched cleft control patients with no maxillary protraction treatment, who later received surgical Le Fort I maxillary advancement after the growth period. The assessment of maxillary growth and the occlusion started at mean 8 years of age and continued until mean 18 years of age. RESULTS: The use of BAMP orthopedic traction changed the growth pattern of mild hypoplastic maxilla toward a more anterior direction and advanced the face even above the level of Le Fort lll with only a minor effect on dentoalveolar units. The correction of occlusion and facial convexity were stable in the long term. CONCLUSIONS: The using BAMP may improve the position of the maxilla relative to the anterior cranial base for the correction of mild maxillary hypoplasia in adolescent patients with CLP/CP. The achieved results are rather stable in the long term.
Subject(s)
Cleft Lip , Cleft Palate , Maxilla , Humans , Cleft Palate/therapy , Cleft Lip/therapy , Case-Control Studies , Child , Male , Maxilla/growth & development , Maxilla/abnormalities , Female , Follow-Up Studies , Adolescent , Orthodontic Anchorage Procedures/methods , Maxillofacial Development , Palatal Expansion Technique , Cephalometry , Osteotomy, Le Fort/methods , Treatment OutcomeABSTRACT
OBJECTIVES: To compare upper airway changes following bimaxillary surgery for correction of Class III deformity between patients with unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP) and to compare the preoperative and postoperative upper airway among patients with UCLP and BCLP to healthy controls. MATERIALS AND METHODS: Sixty adults with CLP-related skeletal Class III deformity (30 UCLP and 30 BCLP) who consecutively underwent bimaxillary surgery were studied retrospectively. Cone-beam computed tomography (CBCT) was performed before and after surgery to measure upper airway and movements of facial skeletal and surrounding structures. CBCT images from 30 noncleft skeletal Class I adults, matched by age, gender, and body mass index and without surgical intervention, served as controls. RESULTS: After surgery, the volume of the nasopharynx increased in patients with CLP (both P < .001). Patients with CLP did not differ from controls in postoperative volume of the nasopharynx or oropharynx. However, the nasal cavity differed significantly between patients with CLP and controls (P < .001). CONCLUSIONS: After bimaxillary surgery, the nasal cavity of patients with CLP differed significantly compared with the controls. Volumes of the nasopharynx and oropharynx did not differ between patients with CLP after surgery and controls.
Subject(s)
Cleft Lip , Cleft Palate , Cone-Beam Computed Tomography , Malocclusion, Angle Class III , Maxilla , Nasopharynx , Humans , Female , Male , Cone-Beam Computed Tomography/methods , Cleft Palate/surgery , Cleft Palate/diagnostic imaging , Cleft Lip/surgery , Cleft Lip/diagnostic imaging , Malocclusion, Angle Class III/surgery , Malocclusion, Angle Class III/diagnostic imaging , Retrospective Studies , Adult , Nasopharynx/diagnostic imaging , Maxilla/surgery , Maxilla/diagnostic imaging , Orthognathic Surgical Procedures/methods , Oropharynx/diagnostic imaging , Young Adult , Nasal Cavity/diagnostic imaging , Case-Control Studies , Adolescent , Treatment OutcomeABSTRACT
OBJECTIVE: To compare the weight, height, BMI and nutritional status of patients with and without cleft lip and/or cleft palate (CLP). DESIGN: Cross-sectional study. SETTING: Lagos University Teaching Hospital. PATIENTS, PARTICIPANTS: Patients with CLP and a control group of participants without CLP aged between 1 month and 6 years. All patients in the CLP group had not received surgical or nutritional intervention. OUTCOME MEASURES: Weight, height, BMI, their respective percentiles, and nutritional status according to the WHO 2006 growth curves of participants. RESULTS: Patients with CLP (n = 60, 21 males, 39 females, mean age: 19.1 months) had significantly lower percentile weight and height compared to those of controls (n = 60, 26 females, mean age, 23.6 months) in univariate analyses (all p < 0.01). Multivariate linear regression revealed significant interactions with age group for weight. In addition, proportions of underweight and short stature were significantly higher in the CLP group compared to the control group (all p < 0.05), and these significant differences were dependent on the age group with between-group significant differences only in age groups less than 25 months. CONCLUSIONS: Overall, patients with CLP had significantly lower weight, height, BMI and nutritional status than their unaffected peers, and these differences were dependent on age group. Significantly lower nutritional status was seen in patients with CLP up to 24 months of age, which highlights the need for early nutritional intervention in the management of CLP.
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OBJECTIVE: Aim: To study the condition of oral tissues in children with congenital complete cleft lip, alveolar process, hard and soft palate. PATIENTS AND METHODS: Materials and Methods: From the examined 470 children National Specialized Children's Hospital "OKHMATDYT" (Kyiv, Ukraine) with congenital cleft lip and palate was analyzed: 302 patients aged 8-18 years were subject to in-depth analysis for clinical and radiological - 192 with unilateral and 110 with bilateral complete cleft lip, alveolar process, hard and soft palate. RESULTS: Results: The average value of primary adention in patients with unilateral and bilateral complete combined cleft is 69.53%, but in females this indicator is higher and in unilateral cleft 92.18% for female against 53.17% for male. In females with unilateral cleft retention - 40.62% and overcomplete - 10,93%. The same high indicators in bilateral cleft: retention - 36.58% and overcomplete - 12.19%. Retention and overcomplete have higher values for men - 44.93% and 23.19%, respectively. Chewing efficiency in females with bilateral cleft as a result of primary dentition is below 80%. Affected by caries - 90.73% in both groups. Inflammatory processes in the periodontal tissues are revealed (80,75%): chronic catarrhal gingivitis, chronic hypertrophic gingivitis, chronic generalized periodontitis. Manifestations of atopic and angular cheilitis in 39.09% and 23.63% with bilateral cleft lip and palate, glossitis in 29.09%. CONCLUSION: Conclusions: Patients with congenital complete cleft lip, alveolar process, hard and soft palate have high rates of adentia, retention, overcomplete dentition and a wide range of diseases of the oral cavity, which negatively affects surgical and orthodontic rehabilitation.
Subject(s)
Cleft Lip , Cleft Palate , Humans , Female , Male , Child , Adolescent , Ukraine/epidemiologyABSTRACT
Currently, the role of cleft-lip and palate transmembrane protein-1-like (CLPTM1L) rs401681 in various tumor types, particularly lung cancer, has garnered significant attention. However, the findings across studies have shown discrepancies. The aim of the present meta-analysis was to provide a more nuanced understanding of the involvement of CLPTM1L rs401681 in lung cancer development. Several electronic databases were systematically searched, including PubMed, Cochrane Library, Embase, Medline, Wanfang, Google Scholar and Chinese National Knowledge Infrastructure. Odds ratios (ORs) and 95% confidence intervals (CIs) were synthesized using random-effects models. Heterogeneity of included studies was assessed using the I2 statistic and Q test. Sensitivity analysis was conducted to evaluate the stability of overall estimates. Moreover, Egger's test was utilized to detect potential publication bias. The collective ORs indicated a significant association between the CLPTM1L rs401681 polymorphism and susceptibility to lung cancer across various genetic comparisons. These encompass allele T vs. allele C (OR=0.93, 95% CI=0.88-0.99, P<0.001), TT + CT vs. CC (OR=0.91, 95% CI=0.87-0.96, P<0.001), TT vs. CC + CT (OR=0.88, 95% CI=0.80-0.96, P<0.001), TT vs. CC (OR=0.84, 95% CI=0.75-0.94, P<0.001) and CT vs. CC (OR=0.84, 95% CI=0.75-0.94, P<0.001). Examination through statistical Q test and I2 statistic revealed pronounced heterogeneity across four genetic comparisons (allele T vs. allele C, TT + CT vs. CC, TT vs. CC and CT vs. CC). Ethnical distinctions emerged as the primary, if not exclusive, sources of the significant heterogeneity. Upon stratification by ethnicity, a notable reduction in heterogeneity was discernible within the Caucasian demographic. However, heterogeneity persisted within the Asian population. Furthermore, lung cancer risks were statistically significantly decreased for individuals possessing allele T through all genetic comparisons within Caucasians; whereas among Asians, significant reduction was observed solely in the TT vs. CC comparison. The present meta-analysis uncovers a significant association between the CLPTM1L rs401681 polymorphism and altered susceptibility to lung cancer.
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Objective: This study aims to identify fracture patterns on the lingual aspect of the mandible following Bilateral Sagittal Osteotomy of the Mandibular Ramus and correlate these patterns with mandibular anatomical characteristics in patients with cleft lip and palate. Methods: Two hundred cone beam CT scans were analyzed, with 100 scans in the preoperative period to assess mandibular anatomy and 100 in the postoperative period to evaluate the course of fractures on the lingual surface after surgery. Results: Statistical analysis revealed no correlation between the depth of the mandibular fossa and the type of fracture after bilateral sagittal osteotomy. Similarly, there was no association between the height and angle of the mandibular body and the type of fracture. The most common fracture type observed was the type 3 pattern, characterized by a line running through the mandibular canal. Furthermore, no relationship was identified between the studied anatomical aspects and the occurrence of undesired fractures. Conclusions: The anatomical data presented in this study can assist surgeons in selecting the safest surgical techniques and optimal osteotomy sites, particularly in patients with cleft lip and palate.
Objetivo: Este estudio tiene como objetivo identificar los patrones de fractura en la superfície lingual de la mandíbula después de la osteotomía sagital bilateral de la rama mandibular y correlacionar estos patrones con las características anatómicas mandibulares en pacientes com fisura labiopalatina. Métodos: Se analizaron doscientas tomografías computarizadas de haz cónico, con cien tomografías en el período preoperatorio para evaluar la anatomía mandibular y cien en el período postoperatorio para evaluar el curso de las fracturas en la superficie lingual después de la cirugía. Resultados: El análisis estadístico no reveló correlación entre la profundidad de la fosa mandibular y el tipo de fractura después de la osteotomía sagital bilateral. Del mismo modo, no hubo asociación entre la altura y el ángulo del cuerpo mandibular y el tipo de fractura. El tipo de fractura más común observado fue el patrón tipo 3, caracterizado por una línea que atraviesa el canal mandibular. Además, no se identificó relación entre los aspectos anatómicos estudiados y la ocurrencia de fracturas no deseadas. Conclusiones: Los datos anatómicos presentados en este estudio pueden ayudar a los cirujanos a seleccionar las técnicas quirúrgicas más seguras y los sitios de osteotomía óptimos, especialmente en pacientes con fisura labiopalatina.
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INTRODUCTION: The application of artificial intelligence (AI) in healthcare has expanded in recent years, and these tools such as ChatGPT to generate patient-facing information have garnered particular interest. Online cleft lip and palate (CL/P) surgical information supplied by academic/professional (A/P) sources was therefore evaluated against ChatGPT regarding accuracy, comprehensiveness, and clarity. METHODS: 11 plastic and reconstructive surgeons and 29 non-medical individuals blindly compared responses written by ChatGPT or A/P sources to 30 frequently asked CL/P surgery questions. Surgeons indicated preference, determined accuracy, and scored comprehensiveness and clarity. Non-medical individuals indicated preference. Calculations of readability scores were determined using seven readability formulas. Statistical analysis of CL/P surgical online information was performed using paired t-tests. RESULTS: Surgeons, 60.88% of the time, blindly preferred material generated by ChatGPT over A/P sources. Additionally, surgeons consistently indicated that ChatGPT-generated material was more comprehensive and had greater clarity. No significant difference was found between ChatGPT and resources provided by professional organizations in terms of accuracy. Among individuals with no medical background, ChatGPT-generated materials were preferred 60.46% of the time. For materials from both ChatGPT and A/P sources, readability scores surpassed advised levels for patient proficiency across seven readability formulas. CONCLUSION: As the prominence of ChatGPT-based language tools rises in the healthcare space, potential applications of the tools should be assessed by experts against existing high-quality sources. Our results indicate that ChatGPT is capable of producing high-quality material in terms of accuracy, comprehensiveness, and clarity preferred by both plastic surgeons and individuals with no medical background.
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Conventional gingivoperiosteoplasty (GPP) performed during infancy adversely affects maxillary development. However, the outcomes of this procedure in early childhood have rarely been reported. Therefore, we examined the postoperative outcomes of GPP conducted in patients aged 1.5 years with unilateral cleft lip and palate (UCLP). This study included 87 non-syndromic patients with complete UCLP who had undergone early two-stage palatoplasty during the 1999-2004 period. The protocol comprised soft palate plasty at 1 year of age and hard palate closure at 1.5 years of age. In the GPP group (n = 34), we introduced the GPP procedure during hard palate closure; in the non-GPP group (n = 53), the labial side of the alveolar cleft remained intact. We examined computed tomography images taken at 8 years of age to observe bone formation at the alveolar cleft site. We also conducted cephalometric analysis to examine maxillary development at 12 years of age. Bone bridges at the alveolar cleft site were observed in 92% and 5.6% of the GPP and non-GPP groups, respectively. Moreover, 56% of the GPP group did not require secondary alveolar bone grafting (sABG), whereas all the patients in the non-GPP group underwent sABG. No statistically significant differences were noted in the maxillary anteroposterior length (GPP: 45.5 ± 3.7 mm, non-GPP: 45.9 ± 3.5 mm, p = 0.67) and sella-nasion-point A angle (GPP: 75.6 ± 4.5°, non-GPP: 73.8 ± 12.6°, p = 0.49). This study's findings suggest that GPP performed at 1.5 years of age minimises the necessity of sABG and does not exert a negative influence on maxillofacial development.
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BACKGROUND: Since many different conclusions of craniofacial anomalies and their relation to the posterior airway space coexist, this comparative clinical study investigated the palatal morphology concerning volumetric size, posterior airway space dimension and the adenoids of patients with and without a cleft before orthodontic treatment. METHODS: Three-dimensional intraoral scans and cephalometric radiographs of n = 38 patients were used for data acquisition. The patients were divided into three groups: unilateral cleft lip and palate (n = 15, 4 female, 11 male; mean age 8.57 ± 1.79 years), bilateral cleft lip and palate (n = 8, 0 female, 8 male; mean age 8.46 ± 1.37 years) and non-cleft control (n = 15, 7 female, 8 male; mean age 9.03 ± 1.02 years). The evaluation included established procedures for measurements of the palatal morphology and posterior airway space. Statistics included Shapiro-Wilk-Test and simple ANOVA (Bonferroni) for the three-dimensional intraoral scans and cephalometric radiographs. The level of significance was set at p < 0.05. RESULTS: The palatal volume and cephalometric analysis showed differences between the three groups. The palatal volume, the superior posterior face height and the depth of the bony nasopharynx of patients with cleft lip and palate were significantly smaller than for non-cleft control patients. The superior posterior face height of bilateral cleft lip and palate patients was significantly smaller than in unilateral cleft lip and palate patients (BCLP: 35.50 ± 2.08 mm; UCLP: 36.04 ± 2.95 mm; p < 0.001). The percentage of the adenoids in relation to the entire nasopharynx and the angle NL/SN were significantly bigger in patients with cleft lip and palate than in the non-cleft control. In particular, the palatal volume was 32.43% smaller in patients with unilateral cleft lip and palate and 48.69% smaller in patients with bilateral cleft lip and palate compared to the non-cleft control. CONCLUSIONS: Skeletal anomalies relate to the dimension of the posterior airway space. There were differences among the subjects with cleft lip and palate and these without a cleft. This study showed that the morphology of the palate and especially transverse deficiency of the maxilla resulting in smaller palatal volume relates to the posterior airway space. Even the adenoids seem to be affected, especially for cleft lip and palate patients.
Subject(s)
Cephalometry , Cleft Lip , Cleft Palate , Imaging, Three-Dimensional , Humans , Cleft Palate/diagnostic imaging , Cleft Palate/pathology , Female , Male , Cleft Lip/diagnostic imaging , Cleft Lip/pathology , Child , Cephalometry/methods , Orthodontics, Corrective/methods , Palate/diagnostic imaging , Palate/pathology , Retrospective StudiesABSTRACT
BACKGROUD: A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/P) and the association between various types of CL/P and copy number variations (CNVs), as well as their impact on birth outcomes. METHODS: In this retrospective study conducted between January 2016 and July 2022, a cohort of pregnancies diagnosed with fetal CL/P was enrolled and comprehensive clinical data for all cases were extracted from our medical record database, including demographic data about the pregnancies, ultrasound findings, results of Chromosomal microarray (CMA), as well as relevant pregnant and perinatal outcomes. RESULTS: Among the 358 cases, 32 clinically significant variants in 29 (8.1%) fetuses with CL/P were detected by CMA. In 338 singleton pregnancies, the diagnostic yield of CMA in the context of CL/P fetuses was determined to be 7.7% (26/338). CP cases exhibited a relatively higher prevalence of pathogenic/likely pathogenic CNVs at a rate of 25% (3/12), followed by CLP cases at 8.0% (23/288). Notably, the CL group did not demonstrate any pathogenic/likely pathogenic CNV findings among the examined cases (0/38). The diagnostic rate of clinically significant variants was notably higher in the non-isolated CL/P group than in the isolated CL/P group (11/33, 33.3% vs. 15/305, 4.9%, p < 0.001). Within the remaining 20 twin pregnancies, three clinically significant variants (15%) were observed. CONCLUSIONS: This study provides powerful evidence supporting the efficacy of CMA as a valuable tool for facilitating the prenatal genetic diagnosis of fetal CL/P. The presence of CP and CLP in fetal cases demonstrated a relatively higher incidence of pathogenic/likely pathogenic CNVs. Moreover, when these cases were accompanied by additional ultrasound abnormalities, the likelihood of identifying diagnostic CNVs significantly increased. Conversely, cases of CL alone might not be associated with positive CNVs. The present data may significantly enhance prenatal diagnosis accuracy and facilitate informed genetic counseling for cases of fetal CL/P.
Subject(s)
Cleft Lip , Cleft Palate , DNA Copy Number Variations , Ultrasonography, Prenatal , Humans , Cleft Lip/genetics , Cleft Lip/diagnostic imaging , Female , Retrospective Studies , Cleft Palate/genetics , Cleft Palate/diagnostic imaging , Pregnancy , China/epidemiology , Adult , Tertiary Care Centers , East Asian PeopleABSTRACT
Alveolar bone grafting (ABG) in bilateral cleft lip and palate (BCLP) patients provides a reconstructive challenge. We present a novel technique of combining autologous iliac crest bone graft (ICBG) with recombinant human bone morphogenic protein 2 (rhBMP-2) and cellular bone matrix (CBM) for ABG in BCLP patients. Complete bone fill occurred in 90% of patients, with 100% having bilateral canine eruption. No patients required repeat ABG, and no significant complications were reported. The alveolar cleft gap volume significantly decreased with an improvement of 75.87%. ABG with autologous ICBG with rhBMP-2 and CBM is an effective technique for patients with BCLP.
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OBJECTIVE: Development and evaluation of a mobile application for remote monitoring and guidance of pediatric patients diagnosed with cleft lip and/or palate (CL ± P) and their caregivers. DESIGN: This is a pilot cross-sectional, applied, and quantitative study. SETTING: The study was conducted in two tertiary care treatment centers in Brazil. PARTICIPANTS: The participants included 20 caregivers and infants undergoing treatment with nasoalveolar molding (NAM) for CL ± P. INTERVENTIONS: The intervention involved using the TeleCleft mobile application for remote monitoring and guidance of caregivers and infants during NAM treatment. MAIN OUTCOME MEASURE(S): The main outcome measures included usability and satisfaction of users with the TeleCleft application. RESULTS: The results showed high usability and satisfaction ratings among users of the TeleCleft application. Most participants found remote monitoring to be effective and expressed positive opinions about its convenience and usefulness. CONCLUSION: TeleCleft could be a viable tool for remote monitoring and guidance, reducing the need for patients and caregivers to travel to treatment centers, which could potentially alleviate the burden of care faced by families during the journey of CL ± P treatment.
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AIM: Speech difficulties are common in children with cleft palate, but research on foreign-born children is limited. This study aimed to compare speech outcomes, surgery and speech intervention in 5-year-old foreign-born and Swedish-born children with cleft palate with or without cleft lip. METHODS: This retrospective study analysed data from the Swedish cleft lip and palate registry for children born between 2009 and 2016 using Pearson's Chi-squared test and binary logistic regression. RESULTS: Among 160 foreign-born (106 boys, 54 girls) and 847 Swedish-born (479 boys, 368 girls) 5-year-olds, foreign-born children had significantly lower rates of sufficient velopharyngeal competence (77% vs. 86%), age-appropriate consonant production (28% vs. 60%), and speech without non-oral speech errors (70% vs. 86%). Differences remained after adjustment for cleft type, gender and additional diagnosed conditions. After further adjustments for age at completed primary palatal surgery, differences in age-appropriate consonant production and speech without non-oral speech errors remained significant. Foreign-born children underwent completed primary palatal surgery at older ages and received more secondary palatal surgery and speech intervention than Swedish-born peers. CONCLUSION: Foreign-born children showed poorer speech outcomes than Swedish-born peers, despite more secondary palatal surgery and speech intervention. Age at completed primary palatal surgery could partly explain these differences.
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BACKGROUND: Cleft lip and palate are congenital craniofacial anomalies that significantly impact individuals and their families, both medically and psychosocially. The Qatari population has unique characteristics that are suggestive of a high prevalence of congenital anomalies: high consanguinity rate, large family size, advanced paternal age and high prevalence of certain genetic disorders. The lack of existing data concerning the epidemiology of cleft lip and/or palate in Qatar warrants a descriptive study addressing this topic. METHODS: A retrospective nationwide hospital-based cross-sectional study conducted to determine the prevalence of orofacial clefts in Qatar from 2016 to 2021. Data were extracted from the corporation's Cerner database and electronic health records. Information concerning the cleft's characteristics, type, affected side, patient's gender, presence of associated syndromes, nationality, and maternal age were collected. RESULTS: Out of the 147,727 live births, 148 had an orofacial cleft. The prevalence of cleft lip and/or palate was determined to be 1 per 1000 livebirths (95% CI: 0.85, 1.18). The prevalence of cleft lip was 0.18 (95% CI: 0.12, 0.27), cleft palate 0.39 (95% CI: 0.30, 0.51), and cleft lip and palate 0.43 (95% CI: 0.33, 0.55). Qataris had a prevalence of CL 0.25, CP 0.40, and CLP 0.56, compared to 0.16, 0.39, 0.39 for non-Qataris (p-value 0.186). Unilateral clefts predominated over bilateral (74.4% and 25.6%, respectively). Among the unilateral cases, 70.2% occurred on the left side. Most cases were isolated clefts, with only 10.2% having associated syndromes. CONCLUSIONS: The prevalence of orofacial clefts in Qatar is consistent with the globally reported prevalence. Most cases were unilateral and on the left side. Associated syndromes were infrequent and more common with cleft palate alone. Intriguing patterns were revealed between Qatari nationals and non-Qatari residents, with specific subtypes of orofacial clefts showing higher prevalence among nationals.
Subject(s)
Cleft Lip , Cleft Palate , Humans , Qatar/epidemiology , Cleft Lip/epidemiology , Cleft Palate/epidemiology , Cross-Sectional Studies , Prevalence , Male , Female , Retrospective Studies , Infant, Newborn , AdultABSTRACT
OBJECTIVE: Cleft lip and palate are the most common craniofacial malformations worldwide. The alveolar cleft is treated with a bone graft, between 4 and 7 years of age in mixed dentition. This is an important step because it provides good quality jawbone and a better support of the lip and the alar cartilage on the side of the cleft. Bone autografting with iliac harvesting remains the most commonly used technique, but it is not without risks. Allograft techniques have therefore been described to reduce this morbidity (pain, infectious risk, hemorrhagic risk, fracture risk). The aim of this study was to evaluate, one year after allografting, the efficiency and consolidation of the bone allograft in the alveolar cleft. SETTING: A retrospective study was conducted in the department of pediatric craniomaxillofacial surgery in the Woman-Mother-Child Hospital in Lyon, France. PATIENTS: This series includes 22 patients or 25 alveolar cleft bone grafts, including 16 boys and 6 girls, with an average age of 6.1 years. MAIN OUTCOME MEASURES: Quantify the residual bone allograft by evaluating the ratio between the volume of the bone graft and the volume of the initial space on pre- and post-operative cone beam computed tomography. RESULTS: The residual bone allograft percentage at 1 year was 58.5% (± 22.3). CONCLUSIONS: Alveolar cleft bone graft with bone allograft is an alternative to iliac autografting to reduce donor site morbidity.
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OBJECTIVE: Development of an AI tool to assess velopharyngeal competence (VPC) in children with cleft palate, with/without cleft lip. DESIGN: Innovation of an AI tool using retrospective audio recordings and assessments of VPC. SETTING: Two datasets were used. The first, named the SR dataset, included data from follow-up visits to Skåne University Hospital, Sweden. The second, named the SC + IC dataset, was a combined dataset (SC + IC dataset) with data from the Scandcleft randomized trials across five countries and an intercenter study performed at six Swedish CL/P centers. PARTICIPANTS: SR dataset included 153 recordings from 162 children, and SC + IC dataset included 308 recordings from 399 children. All recordings were from ages 5 or 10, with corresponding VPC assessments. INTERVENTIONS: Development of two networks, a convolutional neural network (CNN) and a pre-trained CNN (VGGish). After initial testing using the SR dataset, the networks were re-tested using the SC + IC dataset and modified to improve performance. MAIN OUTCOME MEASURES: Accuracy of the networks' VPC scores, with speech and language pathologists scores seen as the true values. A three-point scale was used for VPC assessments. RESULTS: VGGish outperformed CNN, achieving 57.1% accuracy compared to 39.8%. Minor adjustments in data pre-processing and network characteristics improved accuracies. CONCLUSIONS: Network accuracies were too low for the networks to be useful alternatives for VPC assessment in clinical practice. Suggestions for future research with regards to study design and dataset optimization were discussed.
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INTRODUCTION: Cleft lip and palate (CLP) is a common congenital anomaly characterized by incomplete fusion of the lip and/or palate during embryonic development. The etiology of CLP is multifactorial, involving genetics and different environmental factors. The methylenetetrahydrofolate reductase (MTHFR) gene has been proposed as a candidate gene associated with CLP due to its involvement in folate metabolism and DNA methylation processes. However, the association between MTHFR gene variants and CLP in non-syndromic patients in the North Indian population remains unclear. AIM AND OBJECTIVES: This research aimed to see the association between MTHFR gene polymorphisms in non-syndromic patients with CLP in the North Indian population. MATERIALS AND METHOD: A case-control observational design comprised 50 CLP patients (cases) and 50 healthy individuals without CLP (controls). Blood samples were collected from patients visiting two hospitals. Genomic DNA was extracted from collected peripheral blood samples, and the genotyping of MTHFR gene polymorphisms (specifically, C677T) was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The allelic and genotypic frequencies of MTHFR gene variants were compared between cases and controls using appropriate statistical tests. RESULT: This research revealed a significant association between MTHFR gene polymorphism and CLP in the North Indian population. The odds for the genotypes reach statistical significance, suggesting that the MTHFR gene variant may play a major role in this population's susceptibility to non-syndromic CLP. CONCLUSION: This study provides evidence for a linkage between the MTHFR gene C677T polymorphism and an increased risk of CLP in non-syndromic patients in the North Indian population. These findings do support the involvement of MTHFR gene variants in the etiology of CLP. In the future, more research is warranted to elucidate the underlying mechanisms linking MTHFR gene variants to CLP and to explore potential gene-environment interactions in this context.
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OBJECTIVE: To assess the effectiveness of an interactive iPad-based educational module (cleft iBook) in enhancing parent/caregiver education related to cleft lip and/or cleft palate (CL/P) care. DESIGN: A prospective study involving pre- and post-intervention surveys. SETTING: The study was conducted at a craniofacial clinic in a dedicated children's hospital specifically during initial consultations for CL/P care. PARTICIPANTS: Thirty-two participants (parents/legal guardians/caregivers) ≥18 years of age, English and/or Spanish-speaking, and attending with a child with CL/P. INTERVENTIONS: Participants were provided with iPads and engaged with the interactive iPad-based educational module. Pre- and post-intervention surveys were administered. MAIN OUTCOME MEASURE(S): The survey assessed the understanding of a CL/P diagnosis and management and usability of the iBook. Survey responses were graded on a 5-point Likert scale. Total scores for pre- and post-intervention surveys were compared. RESULTS: Utilizing the cleft iBook module before consultation significantly enhanced comprehension in multiple domains: prenatal development of CL/P, dento-facial molding, surgical techniques, steps after the initial consultation, postoperative care, and the necessity of long-term care for affected children (P < .01). Cumulative survey scores increased by 10.2 points, reflecting significantly improved responses regarding overall comprehension (P < .001). CONCLUSIONS: The interactive, iPad-based cleft educational module emerges as a viable, digital strategy for providing education and empowerment to parents and caregivers navigating the challenges of caring for a child with CL/P. The cleft iBook serves as a readily accessible resource, fostering connections among the child, caregivers, and care team.
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OBJECTIVE: To develop consensus-based algorithms for genetic testing in patients with common craniofacial conditions. DESIGN: An online collaborative consisting of online meetings, independent work, and feedback across groups. Setting/Participants: A collaborative of genetics and pediatrics providers from three regional craniofacial centers (four institutions). METHODS: Collaborative participants agreed upon a shared initial framework, developed algorithms independently, and presented/tested the algorithms with a national audience. Algorithms were modified based on consensus feedback. RESULTS: The collaborative group developed final algorithms for genetic testing in patients with orofacial cleft, branchial arch conditions, and craniosynostosis. CONCLUSIONS: Timely and accurate diagnosis of genetic conditions can support medical management recommendations that result in safer surgical interventions. Algorithms can help guide best-practices for testing, particularly in institutions without easy access to genetics providers.