Nonsyndromic Cleft Palate Research Articles

Management of Persistent Hypernasality After Pharyngeal Flap by Revision Palatoplasty With Use of MRI to Aid Surgical Decision Making.

Describe surgical decision making and outcomes in a series of patients with persistent VPI after pharyngeal flap placement that were all treated with revision palatoplasty. Retrospective, case series. Five patients with nonsyndromic cleft palate and persistent hypernasality following a pharyngeal flap. On MRI, 3 patients presented with an incohesive levator veli palatini muscle, and 4 patients had a pharyngeal flap that was below the palatal plane. One patient underwent straight-line intravelar veloplasty (IVVP), 2 patients underwent pharyngeal flap take-down and IVVP, and 2 patients underwent pharyngeal flap take-down and palate lengthening with buccal myomucosal flaps. Pre- and postoperative resonance. Four of five patients (80%) achieved normal resonance 12 months postoperation. Revision palatoplasty may be an effective approach for treating patients with persistent hypernasality following a pharyngeal flap. MRI may aid in surgical selection based on patient-specific anatomical findings.

Utilization of a Perioperative Care Pathway for Pediatric Alveolar Bone Grafting: A Quality Improvement Initiative.

To develop, implement, and evaluate a standardized perioperative care pathway for pediatric patients undergoing alveolar bone grafting from the anterior iliac crest. A historical control group of 40 patients was reviewed retrospectively and compared to a prospectively collected treatment group of 40 patients who were treated with the new pathway. Tertiary-level academic pediatric hospital between 2018 and 2021. Pediatric patients with nonsyndromic cleft lip and palate undergoing alveolar bone grafting. A perioperative clinical care pathway was specifically designed for patients undergoing alveolar bone grafting from the anterior iliac crest. The pathway involved standardization of perioperative care, ultrasound-guided regional anesthesia for both surgical sites, and scheduled postoperative analgesia. (1) Length of hospital stay; (2) opioid consumption postoperatively; and (3) volume of oral intake in the first 24 h postoperatively. Data was analyzed via comparison of means (Student's t-test for continuous data and Chi-square test for categorical data) and control chart analysis. Compared to the control group, patients in the treatment group had lower mean length of stay (26.8 vs 37.8 h, p < .001), lower mean morphine consumption postoperatively (8 vs 34 mcg/kg, p = .008), and a higher proportion of patients not requiring any postoperative opioid use (80% vs 50%, p = .005). Implementation of a standardized clinical care pathway for pediatric patients undergoing alveolar bone grafting from the anterior iliac crest is feasible and was associated with significant reductions in postoperative length of stay and postoperative opioid requirements.

The Correlation Between Static and Dynamic Facial Asymmetry in Unilateral Cleft Lip and Palate.

Assess the relationship between static and dynamic facial asymmetry in unilateral cleft lip and palate during maximum smile. Retrospective cross-sectional study. Multidisciplinary dentofacial planning clinic. Thirty-one surgically managed non-syndromic unilateral cleft lip and palate patients between the ages of 13 to 17 years. Dynamic three-dimensional (3D) facial images (four-dimensional [4D]) throughout the course of a maximum smile were captured using video stereophotogrammetry at a rate of 60 frames per second, which generated 180 3D images/expression. A generic facial mesh containing more than 7000 vertices was superimposed onto the 3D facial images to quantify and track facial asymmetry throughout the captured sequence. Partial ordinary Procrustes analysis was utilized to calculate an asymmetry score at the rest position, maximum smile, and at the point of maximum mathematical asymmetry. The relationships between the asymmetry at rest and the asymmetry at the point of maximum smile (static 3D), and the maximum mathematical asymmetry (dynamic 4D) were evaluated. Asymmetry scores were higher at maximum smile than at rest. Maximum mathematical asymmetry was observed in most cases during the relaxation phase. Static asymmetry at rest and maximum smile was strongly correlated with the maximum mathematical asymmetry (r = 0.941, P < .001). Static 3D asymmetry at both rest and maximum smile are strongly correlated with dynamic 4D facial asymmetry. The use of 4D imaging, combined with generic mesh conformation and dense correspondence analysis, provides a valid objective measure of facial asymmetry.

A meta-analysis of the relationship between speech and language development in children with nonsyndromic cleft palate with or without cleft lip

Objective Children with nonsyndromic cleft palate with or without cleft lip are at risk of speech production and language delays. In typical development, a strong relationship exists between speech and expressive language development. However, the understanding of this relationship in children with nonsyndromic cleft palate with or without cleft lip is incomplete. The objective of this study was to determine the average correlation between consonant inventory and two expressive language skills in children with NSCP ± L. Design The study used a random effects meta-analyses design. Articles were included by searching PubMed, APA PsycINFO, and ERIC. Main Outcome Measures Correlations between consonant inventory and (1) expressive vocabulary and (2) mean length of utterance. Result Based on eight studies representing 187 children with nonsyndromic cleft palate with or without cleft lip, consonant inventory was positively correlated with expressive vocabulary size (k = 8, z = 0.74, SE = .16, p < .001, [0.424, 1.052]). Using data from four studies, representing 83 children with nonsyndromic cleft palate with or without cleft lip, consonant inventory had a positive nonsignificant correlation with mean length of utterance (k = 4, z = 0.513, SE = 0.293, p = .081, [−0.063, 1.088]). Conclusion Results support a connection between consonant inventory and expressive vocabulary size in children with nonsyndromic cleft palate with or without cleft lip across four languages. Small consonant inventories are often associated with expressive language delays.

Prenatal growth patterns of the upper jaw complex with implications for laryngeal echolocation in bats.

Craniofacial morphology is extremely diversified within bat phylogeny, however growth and development of the palate in bats remains unstudied. The formation of both midline and bilateral orofacial clefts in laryngeally echolocating bats, morphologically similar to the syndromic and non-syndromic cleft palate in humans, are not well understood. Developmental series of prenatal samples (n = 128) and adults (n = 10) of eight bat species (two pteropodids, four rhinolophoids, and two yangochiropterans), and two non-bat mammals (Mus musculus and Erinaceus amurensis), were CT-scanned and cranial bones forming the upper jaw complex were three-dimensionally visualised to assess whether differences in palate development can be observed across bat phylogeny. Volumetric data of bones composing the upper jaw complex were measured to quantify palate growth. The premaxilla is relatively reduced in bats compared to other mammals and its shape is heterogeneous depending on the presence and type of orofacial cleft across bat phylogeny. The palatine process of premaxillary bones is lacking in pteropodids and yangochiropterans, whereas the premaxilla is a mobile structure which is only in contact caudally with the maxilla by a fibrous membrane or suture in rhinolophoids. In all bats, maxillary bones progressively extend caudally and palatine bones, in some cases split into three branches, extend caudally so that they are completely fused to another one medially prior to the birth. Ossification of the vomer and fusion of the maxillary and palatine bones occur earlier in rhinolophoids than in pteropodids and yangochiropterans. The vomer ossifies bilaterally from two different ossification centres in yangochiropterans, which is uncommon in other bats and non-bat mammals. Analysis of ontogenetic allometric trajectories of the upper jaw complex revealed faster development of maxillary, vomer, and palatine bones in yangochiropterans compared to other bats, especially rhinolophoids. Ancestral state reconstruction revealed that yangochiropterans have a higher magnitude of change in ossification rate compared to other bats and E. amurensis a lower magnitude compared to M. musculus and bats. This study provides new evidence of heterochronic shifts in craniofacial development and growth across bat phylogeny that can improve understanding of the developmental differences characterising nasal and oral emission strategies.

Central Auditory Processing Abilities in Children with Non-Syndromic Cleft Lip and Palate: An Electrophysiological Study.

The present study compared the central auditory processing abilities using electrophysiological tests in children with non-syndromic cleft lip and palate (NSCLP) and their age-matched control group. Thirty children aged 7 to 15 years were recruited for the study. Participants were divided into 2 groups. The clinical group (children with NSCLP) comprised 15 children, while the control group (craniofacially typical peers) comprised 15 children with normal hearing sensitivity and auditory processing skills. Electrophysiological tests, including auditory brainstem responses (ABR), binaural interaction component (BIC) of ABR, auditory late latency responses (ALLR), and P300 were assessed. The results showed deviant responses in ABR, BIC, and ALLR in children with NSCLP compared to craniofacially typical counterparts. However, no significant difference was observed in P300 between the two groups. Children with NSCLP may be at a higher risk of central auditory processing disorder due to their abnormal neural transmission in the auditory nervous system. Also, assessing auditory processing abilities in children with NSCLP should include electrophysiological tests in the test battery for additional information regarding neural transmission.

Parental Age and Severity of Non-Syndromic Orofacial Clefts: Relationship with De Novo Mutations

Background: This study investigates the relationship between paternal and maternal age, and the severity of orofacial clefts and the presence of de novo mutations in children. Methods: This was a retrospective study of individuals who were diagnosed with non-syndromic cleft lip and/or palate (CL/P) and their unaffected parents, from 2012 to 2019. We obtained data from the AfriCRAN project database for Nigerians with non-syndromic orofacial clefts. These individuals were recruited at the Oral and Maxillofacial Surgery Clinic, Lagos University Teaching Hospital, Lagos. Results: There was no statistically significant association between type of CL ± P and parental age in young fathers (p = 0.93). When older fathers were considered, the percentage of complete (more severe) CL ± P cases increased, especially when they were married to older mothers, and this was statistically significant (p = 0.036). In older fathers, the risk of CL ± P in their offspring was increased (OR: 2.66, CI: 1.04-6.80), and there was also an increased risk of developing right-sided CL ± P (OR: 1.61, CI: 1.0-2.59). There was a reduced risk of isolated clefts of the soft palate in younger fathers (OR: 0.36, CI: 0.07–1.71), but the risk increased when considering complete types (more severe) of isolated clefts of the hard and soft palates (OR: 1.63, CI: 0.7–1.7). There was an increase in de novo mutation in children as the difference between paternal and maternal age increased. Conclusion: The study showed that a higher risk of CL ± P and de novo mutations in children is associated with increased parental age.

Alterations of senescence-associated markers in patients with non-syndromic cleft lip and palate

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial anomalies. Abnormal Alu methylation in DNA of the pregnant mother may influence the abnormal development of the child. This study aimed to examine Alu methylation and cellular senescence in NSCL/P patients and their mothers as well as the correlation with the severity of NSCL/P. A total of 39 patients with NSCL/P and 33 mothers were enrolled. Of these patients, 6 were cleft lip only (CLO), 9 were cleft palate only (CPO), and 24 were cleft lip and palate (CLP). Alu methylation and senescence markers were determined in the white blood cells of NSCL/P patients, their mothers, and in the lip and palatal tissues of patients at the time of cheiloplasty and palatoplasty. Total Alu methylation was not significantly different between groups. However, a decrease in Alu hypermethylation, increased partial Alu methylation, RAGE, and p16 expression were shown in CLP, the most severe cleft type. Alu methylation in tissues did not differ between groups. In mothers, an increase in Alu methylation was observed only in the CLP. Therefore, the pathogenesis of NSCL/P may be related to Alu methylation of the mother promoting loss of Alu methylation and subsequently senescence in the children.

Prenatal co-exposure to phthalate metabolites and bisphenols among non-syndromic cleft lip and/or palate in offspring

Phthalate metabolites and bisphenols can cause adverse pregnancy outcomes. However, there is no study to evaluate the associations of prenatal exposure to phthalate metabolites and bisphenols with non-syndromic cleft lip and/or palate (NSCL/P) risk in offspring. A population-based case-control study was conducted in a multicenter setting from 2005 to 2021, enrolling 448 pregnant women. Seven phthalate metabolites and six bisphenols were quantified in placenta using liquid chromatography-tandem mass spectrometry. In the logistic regression analysis, high levels of mono-ethyl phthalate, mono-cyclohexyl phthalate, mono-octyl phthalate, bisphenol A, bisphenol AF, bisphenol AP, and fluorene-9-bisphenol were associated with increased NSCL/P risk with odds ratios (95% confidence intervals) of 1.86(1.07,3.25), 6.56(3.47,12.39), 8.49(4.44,16.24), 8.34(4.32,16.08), 3.19(1.81,5.62), 2.78(1.59,4.86), and 5.16(2.82,9.44). The Bayesian kernel machine regression model revealed that co-exposure to phthalate metabolites and bisphenols was associated with increased NSCL/P risk. Similarly, quantile-based g-computation analysis indicated that each quantile increase in mixture concentration was positively related to higher risk for NSCL/P [odds ratio (95% confidence interval) = 2.98(1.97,4.51)]. This study provides novel evidence that prenatal single and co-exposure to phthalate metabolites and bisphenols were associated with increased NSCL/P risk, suggesting that exposure to phthalate metabolites and bisphenols during pregnancy should be minimized to reduce the incidence of NSCL/P in offspring.

Executive function performance in persons with non-syndromic cleft lip and palate

Background: Executive functions (EFs) are crucial cognitive functions that mature from birth to adolescence. They are vital for daily task execution and overall success and also influence language and communication development. Children with EFs deficits often experience delays in language and speech abilities. These impairments are particularly prevalent among individuals with cleft lip and palate. Consequently, speech and language pathologists must address these impairments through assessments and interventions. Despite this urgent need for action, there is a scarcity of research on executive function performance in this population in Thailand, prompting an investigation to address this issue. This study explores executive function performance in this population to enhance the quality of life for individuals with cleft lip and palate. Materials and methods: Using a survey-based approach, executive function performance was assessed in 5- to 15-year-old volunteer with non-syndromic cleft lip and palate attending the speech therapy camp provided by the Princess Sirindhorn IT Foundation Craniofacial Center at Chiang Mai University in April 2024. Parents completed the Behavior Rating Inventory of Executive Function (Parent form), with scores ≥65 indicating executive function difficulties. Results: The study involved 29 participants, 14 males (48.28%) and 15 females (51.72%), with a mean age of 8 years and 9 months. Average scores for executive function abilities in BRI, MI, and GEC were 52.21, 56.48, and 58.90, respectively. There are several participants with abnormal executive function in each age group, along with their average T-scores across different domains. Children aged 5, 6-8, and 9-11 have T-scores for executive function performances falling into problematic levels for 1, 2, and 5 individuals, respectively. Conclusion: Most of the sample group demonstrated executive function skills within the normal range. However, a certain number of individuals experienced issues with executive function. These findings offer guidance for speech and language pathologists and emphasize the importance of executive function in individuals with cleft palates.

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.

Early Cleft Palate Repair is Associated With Lower Incidence of Velopharyngeal Insufficiency Surgery.

The timing of primary repair in nonsyndromic cleft palate remains controversial. Recent evidence suggests earlier repair is associated with a lower incidence of velopharyngeal insufficiency (VPI). The authors aim to evaluate these findings in a large cohort study using causal inference. All nonsyndromic cleft palate repairs in California were extracted between 2000 and 2021 from the California Health Care Access and Information (HCAI) database. Cases were linked with VPI surgery following cleft palate repair based on unique identifiers. The main outcome measure was incidence of VPI surgery evaluated with propensity score matching. Early cleft palate repair was defined as <7 months of age versus traditional cleft palate repair at >11 months of age. Standardized mean differences (SMD) were measured before and after matching for potential confounders including sex, race, payer, and distance from patient home to hospital. In all, 52,007 cleft palate repairs were included, of which 12,169 (23.3%) were repaired early and 39,838 (76.7%) were repaired traditionally. Early cleft palate repairs underwent VPI surgery in 1.2% (13/1,000) of cases, compared with 6.1% (61/1000) in the traditional repair cohort. Post-matching, the average treatment effect of early repair was a 6.3% reduction in VPI surgery (P<0.001, 95% CI -6.3, -5.4%). All covariate SMDs were <|0.1| after matching. Our cohort study demonstrates a significantly reduced incidence of VPI surgery in children with primary cleft palate repair <7 months of age. Craniofacial centers should consider early cleft palate repair in appropriate patients.

Prevalence of tooth agenesis and supernumerary teeth related to different Thai cleft lip and cleft palate populations

BackgroundPattern of dental anomalies encountered in cleft patients shows subtle signs of genetic involvement. This study aimed to evaluate the prevalence and pattern of tooth agenesis and supernumerary teeth in Thai cleft population according to the cleft type.MethodsData collected from patients with cleft lip and palate, who had been treated at Tawanchai Cleft Center, Khon Kaen University, Thailand, available during year 2012–2022, were investigated. Records from 194 patients with non-syndromic clefts met the inclusion criteria. Standard dental records, and at least either orthopantomogram (OPG) or cone beam computed tomography (CBCT), were examined. Statistical analysis was performed using chi-square and binominal test (p ≤ 0.05).ResultsPrevalence of tooth agenesis was higher (77.3%) than that of supernumerary teeth (5.7%) and was more common in bilateral cleft lip and palate (BCLP) (88.1%) than in unilateral cleft lip and palate (UCLP) (72.6%) (p = 0.017). The upper lateral incisor was more frequently affected (46.4%), followed by the upper second premolar. The number of missing teeth observed on the left side was significantly higher. Patients with left UCLP (ULCLP) had the highest prevalence of tooth agenesis. A total of 41 tooth agenesis code (TAC) patterns was found. The prevalence of supernumerary teeth was comparable with 6.6% of ULCLP, 5.1% of BCLP, and 4.5% of URCLP. Tooth-number anomalies were observed more often in the BCLP and were most likely to occur on the left side of the maxilla. Both types of anomalies could be featured in a small proportion of cleft patients.ConclusionsMore than half of the patients with non-syndromic cleft lip and palate in this study, presented with tooth-number anomalies. Tooth agenesis was approximately 10-time more prevalent than supernumerary teeth. Tooth agenesis was likely to appear on the left-side of the maxilla regardless of the laterality of the cleft.

Differences in the tooth impaction characteristics between males and females nonsyndromic cleft lip and palate patients: a cross-sectional study

ABSTRACTIntroduction: Nonsyndromic cleft lip and palate (nsCLP) refers to an abnormal gap in the upper lip and/or palate, without the presence of additional developmental abnormalities. The risk of tooth impaction in nsCLP-patients is greater than in patients without nsCLP. This research aimed to analyze the differences in the tooth impaction characteristics between males and females nsCLP-patients. Methods: Type of research is cross-sectional study. CLP by observing 64 panoramic radiographs as population, consisting of 28 males and 36 females with the chronological age of over 7 years. The sampling technique used was purposive sampling of tooth impaction and the number of samples are 14. Univariate analysis was performed to examine the data on tooth impaction characteristics. Bivariate analysis was performed to compare the tooth impaction characteristics between males and females. Results: The proportion of tooth impaction in males (28.57%) was greater than in females (16.67%). Tooth impaction generally affects one tooth. Maxillary permanent canines (64.71%) were the most frequently affected teeth. Most of the impacted teeth were located above the cemento-enamel junction, but less than half the length of the adjacent tooth root with unfavorable angulation&lt;650 to the intercondylar line. There were no significant differences in the tooth impaction characteristics, including proportion (p-value=0.5557), number (p-value=0.0644), position (p-value=0.8273), and angulation (p-value=0.8248), between males and females nsCLP-patients. However, there was a significant difference in the type of impacted teeth (p-value=0.0000) between the two genders. Conclusions: There were no differences in the tooth impaction characteristics, including the proportion, number, position, and angulation, except for the type of impacted teeth, between males and females nsCLP-patients. A small proportion of nsCLP-patients was found to have one impacted tooth, with maxillary permanent canines being the most frequently affected teeth. Impacted teeth were commonly located in favorable positions, but with unfavorable angulation.KEYWORDSTooth impaction, nonsyndromic cleft lip and palate, panoramic radiography

Effect of facial and nasolabial asymmetry on perceived facial esthetics in children with non-syndromic cleft lip and palate

ObjectiveThe aim of the present study was to objectively assess the degree of residual facial asymmetry after primary treatment of non-syndromic unilateral cleft lip and palate (UCLP) in children and to correlate it with subjective ratings of facial appearance.Materials and methodsStereophotometry was used to record the faces of 89 children with UCLP for comparison of cleft and non-cleft sides up to 5 years after primary cleft closure. Root mean square values were calculated to measure the difference between the shape of cleft and non-cleft sides of the face and were compared to controls without a cleft lip. The Asher-McDade Aesthetic Index (AMAI) was used for subjective rating of the nasolabial area through 12 laypersons.ResultsChildren with a cleft lip (CL) showed no significant difference in RMS values compared to controls. Significant differences occurred when the evaluation was limited to the nasolabial area, however only in patients with cleft lip alveolus (CLA) and cleft lip palate (CLAP)(p < 0.001). In contrast, subjective ratings showed significantly higher values for all three cleft severity groups (CL, CLA, CLAP) compared to controls (p < 0.001). There was a non-linear correlation between the RMS (root mean square) values and the AMAI score.ConclusionsEven non-significant discrete objective deviations from facial symmetry in children after primary closure of UCLP are vigilantly registered in subjective ratings and implemented in the judgement of facial appearance.Clinical relevance3D stereophotometry is a usefull tool in monitoring asymmetry in patients with a cleft.

Role of MTHFR, IRF6, PAX7 and TP63 SNPs in susceptibility to non-syndromic orofacial cleft, a candidate gene study in a Portuguese population.

Non-syndromic orofacial cleft (NSOC) is a complex phenotype, involving multiple genetic and environmental factors. Association studies exploring the genetic susceptibility to this prevalent oral malformation show variability of results in different populations. Using a candidate gene approach, we aimed to verify the role of four single-nucleotide polymorphisms (SNPs) in the susceptibility to NSOC in Portuguese patients. A total of 254 non-consanguineous individuals of Portuguese were recruited, including 120 patients with NSOC and 134 controls. About 92% of these patients had non-syndromic cleft lip with or without cleft palate (NSCL/P) and 8% had only non-syndromic cleft palate (NSCP). SNPs in the MTHFR (rs1801133), IRF6 (rs642961), PAX7 (rs742071) and TP63 (rs9332461) genes were studied, using a real-time approach with TaqMan probes. Allelic, genotypic, dominant, recessive and over-dominant models were explored using a chi-squared test. Adjusted p-value was calculated for multiple comparisons using the Benjamini-Hochberg false discovery rate (FDR). All SNPs were in Hardy-Weinberg equilibrium. For MTHFR, IRF6, and PAX7 SNPs, no statistically significant difference was highlighted for any of the evaluated models. For TP63 SNP, data fitted an over-dominant model, with a protective effect for heterozygotes (OR 1.897; CI 95% [1.144-3.147]; p < .016, when comparing controls vs. cases), but significance was lost when applying adjusted p-value for multiple comparisons (4 × 5 tests). In this Portuguese population, there was no evidence of an association between the evaluated SNPs and NSOC. For TP63 SNP, the possibility of a protective effect of heterozygotes should be further investigated.

The Effects Of Early And Delayed Palatal Repair On Maxillary Growth And Speech Outcome In Unilateral Cleft Lip And Palate Patients: A Systematic Review

Some cleft clinics use a two-stage method to correct the cleft palate, which helps avoid reduced maximum growth after early hard palate surgery and impaired speech development after late soft palate repair.. This study sought to evaluate the effects of early vs late palatoplasty on speech and maximum growth results. The following databases were searched: Cochrane Library, Science Direct, Pubmed, and NCBI. The primary objective of this study was to determine whether unilateral, non-syndromic cleft lip, alveolus, and palate patients who underwent early or late hard palate surgery before or after 18 months of age had an impact on speech and maxillary development. Things like case studies, reviews, editorials, textbooks, and studies conducted on animals weren't included. The following systematic observations consist of eight studies. Most studies had methodological quality that ranged from fair to good. This review discusses the experience of cleft centers using a variety of one and two stage palatoplasty procedures and timing, and shows inconsistent results regarding maximal progression. The seemingly inconsistent results of the studies included in this observation of speech outcomes suggest that there is insufficient evidence to conclude whether one- or two-stage palatoplasty has a significant effect on maximal development for a variety of reasons. The review provides inconclusive evidence on the impact of hard palate repair timing on facial growth and speech outcomes in unilateral cleft lip and palate patients, highlighting the need for further controlled studies.

A multi-centric, single-blinded, randomized, parallel-group study to evaluate the effectiveness of nasoalveolar moulding treatment in non-syndromic patients with complete unilateral cleft lip, alveolus and palate (NAMUC study): a study protocol for a randomized controlled trial

BackgroundCleft lip and palate (CLP) are among the most common congenital anomaly that affects up to 33,000 newborns in India every year. Nasoalveolar moulding (NAM) is a non-surgical treatment performed between 0 and 6 months of age to reduce the cleft and improve nasal aesthetics prior to lip surgery. The NAM treatment has been a controversial treatment option with 51% of the cleft teams in Europe, 37% of teams in the USA and 25 of cleft teams in India adopting this methodology. This treatment adds to the already existing high burden of care for these patients. Furthermore, the supporting evidence for this technique is limited with no high-quality long-term clinical trials available on the effectiveness of this treatment.MethodThe NAMUC study is an investigator-initiated, multi-centre, single-blinded randomized controlled trial with a parallel group design. The study will compare the effectiveness of NAM treatment provided prior to lip surgery against the no-treatment control group in 274 patients with non-syndromic unilateral complete cleft lip and palate. The primary endpoint of the trial is the nasolabial aesthetics measured using the Asher McDade index at 5 years of age. The secondary outcomes include dentofacial development, speech, hearing, cost-effectiveness, quality of life, patient perception, feeding and intangible benefits. Randomization will be carried out via central online system and stratified based on cleft width, birth weight and clinical trial site.DiscussionWe expect the results from this study on the effectiveness of treatment with NAM appliance in the long term along with the cost-effectiveness evaluation can eliminate the dilemma and differences in clinical care across the globe.Trial registrationClinicalTrials.gov CTRI/2022/11/047426 (Clinical Trials Registry India). Registered on 18 November 2022. The first patient was recruited on 11 December 2022. CTR India does not pick up on Google search with just the trial number. The following steps have to be carried out to pick up.How to search: (https://ctri.nic.in/Clinicaltrials/advsearch.php—use the search boxes by entering the following details: Interventional trial > November 2022 > NAMUC).

Non-syndromic Cleft Lip and Palate Patients of the North Indian Population and the Association of Methylenetetrahydrofolate Reductase Gene.

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. This research aimed to see the association between MTHFR gene polymorphisms in non-syndromic patients withCLP in the North Indian population. 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. This research revealed a significant association between MTHFR gene polymorphismand CLP in the North Indian population. The odds for the genotypes reach statistical significance, suggesting that the MTHFR gene variantmay play a major role in this population's susceptibility to non-syndromic CLP. 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.

Pattern of velopharyngeal valve closure in patients with cleft palate after primary cleft palate repair: A cross-sectional nasoendoscopic analysis

ABSTRACT Background: The velopharyngeal valve (VPV) consists of the velum, lateral pharyngeal walls, and posterior pharyngeal walls. Velopharyngeal (VP) closure is required during attempted phonation, deglutition, and sucking, and serves to prevent nasal regurgitation of fluids or solids that are normally delivered to the oropharynx. Objectives: This study aimed to identify the patterns of VPV closure in children with cleft palate (CP) who had palatal repair done and to determine the relationship between surgical technique and pattern of closure. Patients and Methods: This study was conducted in the nasoendoscopy room of the Orofacial Cleft Clinic, Lagos University Teaching Hospital. All patients with nonsyndromic cleft lip and palate or isolated CP who had palatal repair done at age 12 months and above with either von Langenbeck, Bardach, or Furlow’s techniques were included in this review. All patients were examined using a flexible fiber-optic nasoendoscope. Results: There were 35 patients who had nasoendoscopy done and met the inclusion criteria. The most common pattern of closure of the VP mechanism in patients examined by nasoendoscopy was circular (48.6%), followed by coronal (37.1%). von Langenbeck’s technique had the highest frequency in all patterns of closure though this was not statistically significant (P = 0.47). Both von Langenbeck and Bardach techniques had both coronal and circular as their most common closure patterns, while Furlow’s had the circular as the most common pattern of closure. Conclusion: The most common pattern of closure of the VP mechanism in patients who had CP repair in this study was circular and there was no apparent relationship between the surgical technique of repair and pattern of closure.