Single-Nucleotide Polymorphisms in WNT Genes in Patients with Non-Syndromic Orofacial Clefts in a Polish Population.

Non-syndromic orofacial cleft (OFC) is the most common facial developmental defect in the global population. The etiology of these birth defects is complex and multifactorial, involving both genetic and environmental factors. This study aimed to determine if SNPs in the WNT gene family (rs1533767, rs708111, rs3809857, rs7207916, rs12452064) are associated with OFCs in a Polish population. The study included 627 individuals: 209 children with OFCs and 418 healthy controls. DNA was extracted from saliva for the study group and from umbilical cord blood for the control group. Polymorphism genotyping was conducted using quantitative PCR. No statistically significant association was found between four variants and clefts, with odds ratios for rs708111 being 1.13 (CC genotype) and 0.99 (CT genotype), for rs3809857 being 1.05 (GT genotype) and 0.95 (TT genotype), for rs7207916 being 0.86 (AA genotype) and 1.29 (AG genotype) and for rs12452064 being 0.97 (AA genotype) and 1.24 (AG genotype). However, the rs1533767 polymorphism in WNT showed a statistically significant increase in OFC risk for the GG genotype (OR = 1.76, p < 0.001). This research shows that the rs1533767 polymorphism in the WNT gene is an important risk marker for OFC in the Polish population.

Orofacial Clefts and Maternal Risk Factors: A Population-Based Case-Control Study.

BACKGROUND/OBJECTIVES: Orofacial clefts (OFCs) are some of the most common congenital anomalies worldwide. The aim of this case-control study was to evaluate the association of OFCs with selected maternal characteristics. METHODS: Data on isolated non-syndromic cases of OFCs were extracted from the population-based registry of congenital anomalies of Tuscany. A sample of live-born infants without any congenital anomaly was used as the control group. We investigated the association with sex and some maternal characteristics: age, body mass index, smoking, and education. Adjusted odds ratios (OR) were calculated using a logistic regression model. Analyses were performed for the total OFCs and separately for cleft lip (CL) and cleft palate (CP). RESULTS: Data on 219 cases and 37,988 controls were analyzed. A higher proportion of males (57.9%) was observed, particularly for CL. A decreasing trend among the maternal age classes was observed (OR:0.81 (95%CI 0.70-0.94)). Underweight mothers had a higher prevalence of OFCs, in particular for CL (OR:1.88 (95%CI 1.08-3.26)). CONCLUSIONS: We found an association of OFCs with lower maternal age. The association with maternal age remains controversial and further epidemiological evidence is needed through multicenter studies. We observed that CL was more common in underweight mothers, suggesting actions of primary prevention.

The Accuracy of Digital Impressions versus Conventional Impressions in Neonates with Cleft Lip and/or Palate: A Laboratory-Based Study.

Cleft lip and palate (CL/P) are a common congenital craniofacial anomaly requiring precise impressions for effective treatment. Conventional impressions (CIs) pose challenges in neonates with CL/P due to their delicate oral anatomy. While digital impressions (DIs) are increasingly recognised for their potential benefits over conventional methods in dentistry, their accuracy and application in neonates with cleft lip and palate (CL/P) remain underexplored. This study aimed to assess the accuracy of DIs compared to CIs in neonates with CL/P, using alginate and putty materials as references. A laboratory-based case-control study was conducted, utilising soft acrylic models resembling neonatal mouths with CL/P. Alginate and putty impressions were obtained conventionally, while digital impressions were captured using an intraoral scanner (IOS). A total of 42 models were analysed, divided evenly into three groups, with each group comprising 14 models. Superimposition and surface discrepancy analyses were performed to evaluate impression accuracy. The results revealed no statistically significant differences between the digital and conventional impressions in their intra-arch measurements and surface discrepancies. The mean measurement values did not significantly differ among groups, with p values indicating no significant variations (p > 0.05), confirmed by an analysis of variance. High intra-examiner reliability with Intra Class Coefficient (ICC) values close to 1 indicated consistent measurements over time. The current study demonstrates that DIs are equally accurate as conventional alginate and putty impressions in neonates with cleft lip and palate, offering a viable and less invasive alternative for clinical practise. This advancement holds promise for improving the treatment planning process and enhancing patient comfort, particularly in vulnerable neonatal populations. Further research is warranted to explore the clinical implications and factors affecting DI accuracy in this population.

Three-Dimensional Anthropometric Analysis of the Effect of Lip Reconstructive Surgery on Children with Cleft Lip and Palate at Three Different Times.

OBJECTIVES: This investigation aimed to assess the optimal timing for lip repair in children with cleft lip and palate via 3D anthropometric analysis to evaluate their maxillofacial structures. METHODS: The sample comprised 252 digitized dental models, divided into groups according to the following timing of lip repair: G1 (n = 50): 3 months; G2 (n = 50): 5 and 6 months; G3 (n = 26): 8 and 10 months. Models were evaluated at two-time points: T1: before lip repair; T2: at 5 years of age. Linear measurements, area, and Atack index were analyzed. RESULTS: At T1, the intergroup analysis revealed that G1 had statistically significant lower means of I-C', I-C, C-C', and the sum of the segment areas compared to G2 (p = 0.0140, p = 0.0082, p = 0.0004, p < 0.0001, respectively). In addition, there was a statistically significant difference when comparing the cleft area between G2 and G3 (p = 0.0346). At T2, the intergroup analysis revealed that G1 presented a statistically significant mean I-C' compared to G3 (p = 0.0461). In the I-CC' length analysis, G1 and G3 showed higher means when compared to G2 (p = 0.0039). The I-T' measurement was statistically higher in G1 than in G2 (p = 0.0251). In the intergroup growth rate analysis, G1 and G2 showed statistically significant differences in the I-C' measurement compared to G3 (p = 0.0003). In the analysis of the Atack index, there was a statistically significant difference between G1 and the other sample sets (p < 0.0001). CONCLUSION: Children who underwent surgery later showed better results in terms of the growth and development of the dental arches.

invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.

Structural variation is a source of genetic variation that, in some cases, may trigger pathogenicity. Here, we describe two cases, a mother and son, with the same partial inverted duplication of the long arm of chromosome 8 [invdup(8)(q24.21q24.21)] of 17.18 Mb, showing different clinical manifestations: microcephaly, dorsal hypertrichosis, seizures and neuropsychomotor development delay in the child, and a cleft lip/palate, down-slanted palpebral fissures and learning disabilities in the mother. The deleterious outcome, in general, is reflected by the gain or loss of genetic material. However, discrepancies among the clinical manifestations raise some concerns about the genomic configuration within the chromosome and other genetic modifiers. With that in mind, we also performed a literature review of research published in the last 20 years about the duplication of the same, or close, chromosome region, seeking the elucidation of at least some relevant clinical features.

Exploring the potential applications of intraoral scanners in the treatment of cleft lip and palate deformity-A scoping review of literature.

BACKGROUND: In the realm of cleft lip and palate (CLP) care, the integration of intraoral scanners (IOS) may offer a promising avenue, enabling precise digital imaging, record-keeping, treatment planning and execution. This scoping review aimed to explore the current applications of IOS in CLP patients and discuss potential future directions for optimizing the utilization of IOS in cleft care. MATERIAL AND METHODS: The review was registered apriori in the Open Science Framework (OSF) Registries (https://doi.org/10.17605/OSF.IO/KPD34). A systematic search was conducted across various databases like Ovid MEDLINE, PubMed, Cochrane Library, Embase, Web of Science, Scopus, Google Scholar, Grey literature, and Trial registries using a broad search strategy. The articles published in any language till December 20, 2023 were considered. Studies that demonstrated the application of intraoral scanning in nonsyndromic CLP patients were included. A validated sixteen-item content assessment tool was used to evaluate the included studies. Two independent reviewers performed data extraction and content assessment. RESULTS: Fifteen research studies and thirteen case reports/series were included in the final analysis. Various applications included capturing intraoral and extraoral images, scanning orthodontic study models, assessing dental changes, monitoring treatment changes related to nasoalveolar molding therapy, and fabricating appliances. The content assessment showed below-average mean scores of 34.79 ± 9.37% for research studies and 39.7 ± 0.14% for case reports/series. This can be attributed to insufficient information on scanning parameters, methodology, accuracy, patient outcomes, limitations, and potential solutions. The reproducibility of landmark identification in IOS was within 0.2 mm. Patients and caregivers preferred digital impressions over traditional alginate methods, reporting positive experiences in 84.8% of cases. CONCLUSION: Intraoral scanners offer good clinical accuracy and validity in assessing dentofacial and nasolabial morphology in cleft patients. Adopting IOS can streamline clinical workflows, enhance treatment accuracy, and improve patient outcomes in managing cleft lip and palate.

Is micronucleus assay a useful marker in gingiva, tongue, and palate for evaluating cytogenetic damage induced by chemical, physical, and biological agents in vivo? A systematic review with meta-analysis.

The present systematic review (SR) aims to evaluate manuscripts in order to help further elucidate the following question: is the micronucleus assay (MA) also a useful marker in gingiva, tongue, and palate for evaluating cytogenetic damage in vivo? A search was performed through the electronic databases PubMed/Medline, Scopus, and Web of Science, all studies published up to December 2023. The comparisons were defined as standardized mean difference (SMD), and 95% confidence intervals (CIs) were established. Full manuscripts from 34 studies were carefully selected and reviewed in this setting. Our results demonstrate that the MA may be a useful biomarker of gingival tissue damage in vivo, and this tissue could be a useful alternative to the buccal mucosa. The meta-analysis analyzing the different sites regardless of the deleterious factor studied, the buccal mucosa (SMD = 0.69, 95% CI, - 0.49 to 1.88, p = 0.25) and gingiva (SMD = 0.31, 95% CI, - 0.11 to 0.72, p = 0.15), showed similar results and different outcome for the tongue (SMD = 1.19, 95% CI, 0.47 to 1.91, p = 0.001). In summary, our conclusion suggests that the MA can be a useful marker for detecting DNA damage in gingiva in vivo and that this tissue could be effective site for smearing.

Nonsurgical improvement of severe upper airway obstruction in infants with Robin sequence and cleft palate using Stanford Orthodontic Airway Plate treatment.

STUDY OBJECTIVES: Severe respiratory distress of neonates with Robin sequence (RS) is traditionally managed by surgery. Stanford Orthodontic Airway Plate treatment (SOAP) is a nonsurgical option. The study aimed to determine if SOAP can improve polysomnography (PSG) parameters of neonates with RS. METHODS: PSG of neonates with RS treated with SOAP at a single hospital were retrospectively analyzed. Patients without PSG at all 4 time points (pre-, start of-, mid-, and post-treatment) were excluded. Data were analyzed using a linear mixed effects model. RESULTS: Sixteen patients were included. All patients had cleft palate (CP). The median age (min, max) at the start of treatment was 1.1 months (0.5, 2.3) with the treatment duration of 4.5 months (3.5, 6.0). The mean obstructive apnea-hypopnea index (95% confidence interval) decreased from 39.3 events/hour (32.9, 45.7) to 12.2 events/hour (6.7, 17.7) (P < 0.001), obstructive apnea index decreased from 14.1 (11.2, 17.0) events/hour to 1.0 (-1.5, 3.5) events/hour (P < 0.001), and oxygen nadir increased from 79.9% (77.4, 82.5) to 88.2% (85.5, 90.8) (P < 0.001) between pre- and start of treatment. Respiratory improvements were sustained during and after the treatment. All patients avoided mandibular distraction osteogenesis or tracheostomy following SOAP. CONCLUSIONS: As being a rare diagnosis, the number of participants was, as expected, low. However, the current study demonstrates that SOAP can improve PSG parameters, demonstrating its potential utility before surgical interventions for neonates with RS and CP experiencing severe respiratory distress.

Reconstruction of Palatal Defects Using a Composite Chondromucosal Nasoseptal Flap and Comparative Analysis.

OBJECTIVE: The use of composite chondromucosal nasal septal flaps (ccNSF) has been demonstrated to be effective in cadaveric studies for the anterior skull base and the orbit. However, their application in the clinical setting remains unexplored. Our study aims to introduce a new method for treating palatal defects using ccNSF. Additionally, we studied the average NSF area and compared it to the average palate area. METHODS: We collected 108 CT scans from the medical records of patients without head and neck pathologies from a tertiary medical institution. We quantified the quadrangular (septal) cartilage and palate areas. Furthermore, we included a clinical case in which we used the ccNSF for the palatal defect reconstruction. This was to compare the mean area between the palate and the septal cartilage. RESULTS: The ccNSF covered the palatal defect without any significant complications for the first 9 months of follow-up. A total of 102 CT scans met the inclusion criteria and were measured. We found that the mean quadrangular cartilage had a length of 2.50 (±0.52) cm, a width of 2.28 (±0.51) cm, and an area of 5.43 (±1.68) cm2. The mean palate length was 2.73 (±0.44) cm, with a width of 3.13 (±0.34) cm, and area of 7.87 (±1.43) cm2. CONCLUSIONS: The ccNSF proved successful in palatal defect reconstruction, resulting in positive outcomes and no major complications until the 9-month follow-up. The ccNSF is a useful flap that avoids the use of free flap transfer and its associated morbidities. LEVEL OF EVIDENCE: 4 Laryngoscope, 2024.

Midface asymmetry in non-syndromic unilateral cleft lip-palate: a retrospective cbct analysis.

Purpose: The aim of this study was to determine the relationship between the zygomaticomaxillary complex (ZMC) and infraorbital foramen region (IFR) with facial symmetry in patients with unilateral cleft lip and palate (UCLP) using cone beam computed tomography (CBCT). Materials and methods: In this retrospective study, CBCT images of 30 non-syndromic UCLP patients were included, along with 30 age- and sex-matched control individuals. ZMC symmetry was evaluated in the axial section by comparing the right and left sides. Similarly, symmetry in the IFR was assessed in the coronal section. The significance level was set at p<0.05 for statistical analysis. Results: The study group comprised 12 female and 18 male patients, with ages ranging from 10 to 18 years (mean age 14.1 years). Both ZMC and IFR measurements were significantly lower on the cleft sides of the study group compared to both the non-cleft sides of UCLP patients and the control group (p<0.001, p=0.022, and p=0.036, respectively). Furthermore, IFR measurements were significantly lower in the control group compared to the non-cleft sides of the study group (p=0.04). Conclusion: This study demonstrated that individuals with UCLP exhibit asymmetry in both the ZMC and the IFR. These findings suggest a negative impact on facial aesthetics.

Risk Factors for Replacement of Tympanostomy Tubes After Surgical Removal for Pediatric Patients.

OBJECTIVES: Ear tube removal and patch myringoplasty are frequently performed. The indication and timing for surgery varies among otolaryngologists. This study identifies risk factors associated with the need for the replacement of tympanostomy tubes after tube removal and myringoplasty. STUDY DESIGN: Case series with chart review. SETTING: Single institution academic otolaryngology practice. METHODS: Patients younger than 12 years of age who underwent tympanostomy tube removal and myringoplasty at the University of Rochester Medical Center from March 2011 to September 2019. Patients with tympanostomy tube removal due to chronic otorrhea were excluded. RESULTS: One hundred sixty-one patients (230 ears) met inclusion criteria and had sufficient follow-up. Myringoplasty success after tube removal was 94.8%. Successful myringoplasty was associated with shorter tube duration (32 months) versus unsuccessful myringoplasty (40 months) (P = .02). Replacement tympanostomy tubes after myringoplasty occurred in 9.6% of ears. There was no difference in average patient age (P = .96) or duration of tubes (P = .74) in patients who required replacement of tympanostomy tubes versus patients who did not require tube replacement. Patients with a cleft abnormality were more likely to require tympanostomy tube replacement (P < .001). CONCLUSIONS: Most children do not need tubes replaced after removal. This study identified cleft abnormality as a factor that increased the need for replacement tubes. Longer tube durations of over 3 years negatively impacted myringoplasty success. Tympanostomy tube removal should be considered 2 to 3 years after placement in most patients with longer tube durations considered in children with a repaired cleft palate.

Tooth movement toward alveolar bone grafting with rhBMP-2 in a child with unilateral cleft lip and palate: Case report with long-term follow-up.

The secondary alveolar bone grafting procedure is typically recommended during the late mixed dentition phase, prior to the eruption of the permanent canine, in patients with cleft lip and palate. The anatomical and functional adaptations observed in the grafted area allow spontaneous migration and eruption of the adjacent maxillary canine. An alveolar bone graft can be performed using autogenous bone or recombinant human bone morphogenetic protein-2 (rhBMP-2). Employing rhBMP-2 in a collagen membrane eliminates the need for a donor site, thus reducing surgical morbidity. This paper aims to present a case involving complete orthodontic rehabilitation with a three-year follow-up of a male patient with a unilateral complete cleft lip and palate, posterior and anterior crossbite, where grafting was performed with rhBMP-2 at a single centre. Orthodontic intervention began at 8 years of age with rapid maxillary expansion, followed by facemask therapy. The alveolar bone grafting procedure was performed using rhBMP-2 in a collagen membrane, according to the surgical protocol developed by the Oslo team. Comprehensive orthodontic treatment started 15 months post bone grafting, during which the maxillary permanent lateral incisor distal to the alveolar cleft was successfully moved mesially into the grafted region. This intervention resulted in adequate occlusal and periodontal outcomes. The alveolar graft with rhBMP-2 produced adequate and stable alveolar bone formation, facilitating tooth eruption, orthodontic movement, and stability at the cleft site.

Ectodermal dysplasia and cholesteatoma: A cross-sectional analysis of otologic issues.

OBJECTIVES: Previous studies have also associated cleft palate with increased cholesteatoma risk. Despite this close relation, the incidence of cholesteatoma and associated otologic issues in patients with ectodermal dysplasia types highly associated with cleft palate (EDT-ACPs) has not been formally analyzed. This study provides insight to guide clinicians caring for patients with ED types associated with cleft palate. METHODS: Individuals with TP63 disorders and Goltz syndrome/Focal Dermal Hypoplasia in the National Foundation for Ectodermal Dysplasia database were contacted for participation in an online REDCap survey from Sept-Dec '22. Descriptive statistics were generated using SAS JMP Pro 17 statistical software. RESULTS: 65 individuals participated in the survey (response rate approx. 18 %). The median [IQR] age was 22 [14, 43], 41 (63 %) were female, and Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome (EEC) was most common (n = 26, 40 %). We found that, among our respondents with a history of cleft palate, the incidence of cholesteatoma was 39 %. Among respondents without a history of cleft palate, the incidence of cholesteatoma was 13 % CONCLUSIONS: Otologic issues, such as cholesteatoma, can have permanent implications including hearing loss that can be minimized by early identification and treatment. The estimated incidence of cholesteatoma among our participants is far above the estimated incidence of cholesteatoma in the general population with and without a history of cleft palate, suggesting an independent contribution of EDT-ACPs to the risk of cholesteatoma.

Orofacial dysfunction in cleft lip and palate patients using the nordic orofacial test-screening.

INTRODUCTION: The Nordic Orofacial Test-Screening (NOT-S) protocol serves as a widely recognized tool for assessing orofacial dysfunction comprehensively. This study aimed to compare orofacial dysfunction between unilateral (UCLP) and bilateral (BCLP) cleft lip and palate patients using the NOT-S. MATERIALS AND METHODS: This descriptive cross-sectional study enrolled 104 patients, comprising 72 with unilateral cleft lip and palate (UCLP) and 32 with bilateral cleft lip and palate (BCLP) referred to the cleft lip and palate clinic of Mashhad Dental School. Orofacial dysfunction was assessed using the Nordic Orofacial Test-Screening (NOT-S), which includes a structured interview and clinical examinations encompassing 6 domains each. Statistical analysis utilized Mann-Whitney, Fisher's exact, and Chi-square tests, with significance set at P < 0.05. RESULTS: No significant differences were found in structured interview (P = 0.45), clinical examination (P = 0.45), or total NOT-S score (P = 0.11) between the two types of cleft lip and palate. CONCLUSION: Based on NOT-S assessment, patients with unilateral (UCLP) and bilateral (BCLP) cleft lip and palate exhibited comparable orofacial dysfunctions. In the structured interview, the most prevalent issues were identified in the domain of chewing and swallowing for both cleft types. In clinical examination, unilateral cleft lip and palate patients commonly experienced facial problems at rest, while bilateral cleft lip and palate patients frequently encountered challenges with speaking. However, these differences were not statistically significant.

Striated muscle fiber crossings of the head and neck: a histological study using near-term human fetuses and elderly cadavers.

Striated muscle fiber crossings at almost right angle are known to exist in the face, soft palate, pharyngeal wall and tongue. We aimed to identify a specific interface tissue at the crossing. We observed histological sections from 22 half-heads of 12 near-term fetuses at 26-40 weeks (crown-rump length, 215-334 mm). For comparison, we also observed tongue frontal sections from 5 elderly cadavers (75-85 years old). At the angle of mouth as well as in the soft palate and pharyngeal wall, a solitary striated muscle fiber (e.g., levator) consistently crossed a fiber bundle of the antagonist muscle (e.g., depressor), but a solitary-to-solitary fiber interdigitation was unlikely with the antagonist muscle. Near the external nasal orifice as well as in the tongue intrinsic muscle layer, at every section, there was a crossing with an endomysium-to-endomysium contact: the nasalis and platysma muscles and; the vertical and transverse (or inferior longitudinal) tongue muscles. Therein, the functional vectors crossed at almost right angle. Also in adult tongue, the vertical and transverse muscle fibers sometimes (0-2 sites per section) crossed with an endomysium-to-endomysium contact. At the muscle crossing with an endomysium contact, the endomysium and basement membrane seemed to receive a friction stress between two muscles. Although some crossings might disappear due to high muscle activity after birth, not a few of them were likely to maintain. To minimize the mechanical stress, a minute nervous control of the timing, duration and strength of muscle contraction seemed to be necessary.

Individuals with Cleft Lip and/or Palate Demonstrated Improved Self-Reported Psychosocial Functioning Following the Onset of the COVID-19 Pandemic.

Objective: To evaluate the impact of the COVID-19 pandemic on the psychosocial functioning of individuals with cleft lip and/or palate (CL/P). Methods: Patients with CL/P ≥ 6 years old were prospectively recruited from the Cleft and Craniofacial Clinic of a tertiary children's hospital. From July-October 2021, eligible patients (or their parent/guardian) were sent a survey regarding their psychosocial functioning before and after the start of the pandemic. Main Outcome Measure: The difference between prepandemic and intrapandemic patient-reported outcome scores. Results: Thirty-six patients (20 female, age: 15.9 ± 9.8 years) responded. Most had cleft lip and palate (77.8%), responded online (69.4%), interacted remotely via both voice- and video-conferencing (62.9%), and wore masks routinely (77.1%). Similar numbers of patients responded independently (27.8%), responded with the help of a parent/guardian (36.1%), or had a parent/guardian respond on their behalf (36.1%). General social-emotional well-being (p = 0.004, r rb = 0.659) and satisfaction with facial appearance (p = 0.044, r rb = 0.610) significantly improved after the start of the pandemic. Compared to their general intrapandemic social-emotional well-being scores, patients reported higher scores while wearing a mask (r rb = 0.827) and lower scores while interacting remotely (r rb = 0.605), although all were still significantly improved compared to their prepandemic scores (p ≤ 0.010). Patients also reported significant improvement in social functioning while wearing a mask (p = 0.036, r rb = 0.519), whereas they did not when considering their general intrapandemic feelings/experiences (p = 0.269, r rb = 0.211). Conclusion: Patients with CL/P demonstrated significant improvement in overall social-emotional well-being, satisfaction with facial appearance, and social functioning after the start of the COVID-19 pandemic, particularly when wearing a mask.

Dexmedetomidine as a total intravenous anesthetic in pediatric patients undergoing cleft lip and palate surgery: a case series.

BACKGROUND: Surgery for pediatric cleft lip and palate repair often utilizes high-dose opioids and inhaled anesthesia, thereby causing postoperative complications such as desaturation and/or severe agitation after anesthesia. These complications are detrimental to the child and medical personnel and cause tremendous psychologic stress to parents. Our aim is to decrease these complications through dexmedetomidine, an alpha-2 receptor agonist with anxiolytic, sympatholytic, and analgetic properties. Devoid of respiratory depressant effect, it allows patients to maintain effective ventilation and reduce agitation, postoperatively. Its unique anesthetic property may shed light on providing safe anesthesia and gentle emergence to this young, vulnerable population. CASE PRESENTATION: A total of 21 patients of Sundanese ethnicity, aged 3 months to 8 years (9 males and 12 females), underwent cleft lip or cleft palate surgery using total intravenous dexmedetomidine. Anesthesia was induced using sevoflurane, fentanyl, and propofol, and airway was secured. Intravenous dexmedetomidine 1.5 µg/kg was administered within 10 minutes, and a maintenance dose of 1.5 µg/kg/hour was continued as the sole anesthetic maintenance agent thereafter. Hemodynamics and anesthetic depth using Patient State Index (SEDLine™ monitor, Masimo Corporation, Irvine, CA, USA) were monitored carefully throughout the surgical procedure. Dexmedetomidine did not cause any hemodynamic derangements or postoperative complications in any of our patients. We found agitation in 9.5% (2/21) of patients. CONCLUSION: Dexmedetomidine can be used as a total intravenous anesthetic agent to maintain anesthesia and provide gentle emergence to infants and young children undergoing cleft lip and palate repair.

"Long term speech outcomes after using the Sommerlad technique for primary palatoplasty: a retrospective study in the Wilhelmina Children's Hospital, Utrecht."

OBJECTIVES: After cleft lip and/or palate (CL/P) repair, children may develop velopharyngeal insufficiency (VPI) leading to speech imperfections, necessitating additional speech correcting surgery. This study examines the incidence of VPI and speech correcting surgery after Sommerlad's palatoplasty for CL/P, and its association with various clinical features. MATERIALS AND METHODS: A retrospective cohort study was performed in the Wilhelmina Children's Hospital in Utrecht and child records from 380 individuals with CL/P registered from 2008 to 2017 were retrospectively reviewed. Inclusion criteria comprised the diagnosis of CL/P, primary palatoplasty according to Sommerlad's technique, and speech assessment at five years or older. Association between cleft type and width, presence of additional genetic disorders and postoperative complications (palatal dehiscence, fistula) were assessed using odds ratios and chi squared tests. RESULTS: A total of 239 patients were included. The VPI rate was 52.7% (n = 126) and in 119 patients (49.8%) a speech correcting surgery was performed. Severe cleft type, as indicated by a higher Veau classification, was associated with a significant higher rate of speech correcting surgeries (p = 0.033). Significantly more speech correcting surgeries were performed in patients with a cleft width >10 mm, compared to patients with a cleft width ≤10 mm (p < 0.001). Patients with oronasal fistula underwent significantly more speech correcting surgeries than those without fistula (p = 0.004). No statistically significant difference was found in the incidence of speech correcting surgery between patients with and without genetic disorders (p = 0.890). CONCLUSIONS/CLINICAL RELEVANCE: Variations in cleft morphology, cleft width and complications like oronasal fistula are associated with different speech outcomes. Future research should focus on creating a multivariable prediction model for speech correcting surgery in CL/P patients.

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.