Oropharyngeal cancer (OPC) involves the base of tongue, palatine tonsils, lingual tonsil, and soft palate. Established risk factors for OPC include tobacco usage, alcohol usage, and human papillomavirus infection. Although white populations tend to have the highest risk of developing OPC, Black patients are more likely to experience distant stage disease. The aim of this study was to elucidate epidemiological factors that are associated with regional and distant stage disease at OPC diagnosis. We performed a retrospective cross-sectional analysis utilizing the Florida Cancer Data System (FCDS) from 2010 to 2017. Sociodemographic factors among Black and white patients were compared using chi-square analysis. Multivariable logistic regression analysis determined risk factors associated with distant stage diagnosis. Geographical mapping of census tract levels was performed to illustrate prevalence of distant stage disease at diagnosis in Florida. Among 8,908 OPC cases, 7,534 (84.6%) patients were white non-Hispanic, 834 (9.4%) were white Hispanic, and 540 (6.1%) were Black. Multivariable logistic regression revealed increased distant stage disease compared to local stage among those who were Black (compared to white non-Hispanic and white Hispanic; OR = 1.55 [95% CI:1.12-2.13], p = 0.007), separated/divorced/widowed (OR = 1.36 [95% CI:1.11-1.68], p = 0.004) (compared to married), and lack insurance (OR = 1.67 [95% CI:1.16-2.41], p = 0.006) or have public insurance (OR = 1.26 [95% CI:1.04-1.53], p = 0.017) (compared to those with private insurance). There was decreased regional stage disease compared to local stage among females (OR = 0.57 [95% CI:0.49-0.66], p < .001) and older patients (OR = 0.975, [95% CI:0.968-0.982], p < 0.001). Mapping revealed higher percent of distant stage diagnoses in census tracts with lower median income. Distant stage at OPC diagnosis is influenced by many risk factors, including race, sex, age, marital, and insurance status. Geographical mapping analysis can help direct screening efforts to high-risk communities.

This technical report presents a novel CBCT-Based Grading System for Oropharyngeal Airway Narrowing, designed to provide clinicians with a standardised, objective method to assess oropharyngeal airway narrowing using Cone-Beam Computed Tomography (CBCT). The grading system is developed based on the least surface area on axial section measurements/minimal cross-sectional area (MCA) on CBCT. It classifies oropharyngeal narrowing into five distinct grades (Grade 0 to 4). Each grade also has subcategories that correspond to specific anatomical regions-distal to the soft palate (P), distal to the base of the tongue (T), or distal to both the soft palate and the tongue (B) - and includes precise surface area ranges, contributing to better understanding. Traditional methods have commonly relied upon lateral cephalometry or supine CT; however, CBCT offers 3D mapping in a natural upright position, ensuring functional relevance of the airway assessment. Owing to its high spatial resolution, adequate contrast between the soft tissue and empty space, relatively low radiation dose compared to multidetector row CT and visibility of the upper airway by utilising a large field of view (FOV) protocol, makes CBCT a useful diagnostic tool for evaluation of the airway. The fact that CBCT is taken in a sitting or standing position, where the head is in equilibrium and orofacial, neck musculature is in voluntary control, vis-à-vis the supine position, where this control is taken over by the autonomic nervous system, and the distal part of the soft palate compresses the already narrowed airway further adds to its usefulness. CBCT imaging, with its three-dimensional mapping capabilities, allows for precise visualisation of the airway from the level of the posterior nasal spine, where the hard palate ends, extending to the epiglottis-thus measuring the oropharyngeal airway. The system is particularly useful for early detection and evaluation of conditions such as obstructive sleep apnoea, hypertrophy of the nasopharyngeal tonsils (adenoids), predicting difficult airways for ease of intubation, guiding orthognathic surgical interventions, craniofacial anomalies, and complex orthognathic surgical planning. It holds promise for integration into AI-enabled diagnostic platforms and digital imaging software, offering consistency in research and practice. This report details the rationale, grading criteria, anatomical references, and potential applications of this classification. The system offers a streamlined approach for identifying airway compromise, ultimately aiding multidisciplinary use in optimising patient outcomes.

Background: Upper airway space (UAS) structures play a significant role in the development of the craniofacial complex and are key parameters in orthodontic diagnosis and treatment planning. Airway space can be influenced by different extraction patterns.Objective: To compare the effect on upper airway dimensions in orthodontic patients with two and four-premolar extraction patterns.Methodology: The study was conducted in the Department of Orthodontics, Lahore Medical and Dental College, after approval from the Institutional Review Board and Ethical Committee, from January 2020 to December 2023. A total of 45 orthodontic patients aged 16–20 years with a dental Class II pattern and no significant medical history were included. All patients were treated with fixed orthodontic appliances. Standardized lateral cephalograms were traced manually on acetate paper, and nasopharyngeal airway dimensions were measured before and after orthodontic treatment. Descriptive statistics and paired t-tests were used to assess changes in pre and post-treatment values.Results: There was an insignificant change in the values for PPW-PNS (the distance between the posterior pharyngeal wall and the posterior nasal spine) and PPW-S (the distance between the posterior pharyngeal wall and the soft palate) before and after treatment. No significant differences were observed in upper airway dimensions between patients treated with extraction of four premolars and those treated with extraction of two premolars. The average treatment duration was approximately 2.5 years.Conclusion: Extraction of two or four premolars did not cause significant alterations in upper airway dimensions. Premolar extraction can therefore be considered safe in orthodontic treatment planning with respect to airway space.

The goal of this study was to compare the cranial anatomical characteristics of different animals to provide a scientific basis for the selection of obstructive sleep apnoea (OSA) animal models. We analysed the computed tomography (CT) scan images of humans, Macaca, rabbits, mice, rats, and tree shrews; employed 3D reconstruction and measurement techniques to assess the morphological characteristics of the mandible, hyoid bone, and thyroid cartilage; normalized volumes of the tongue and soft palate, fat distribution, and volume and morphology of the airway in each species; and compared their similarity to the corresponding human structures. Macaca has the greatest similarity to humans in terms of skeletal structure, airway morphology, and fat distribution. With respect to skeletal structure and soft palate research, the anatomical features of tree shrews make them highly competitive candidates. Rabbits have a weak anterior neck area and a long soft palate and tongue base, thus forming a narrow supraglottic and glottic region; when the research target involves these areas, the use of a rabbit model may be more appropriate. These findings provide a solid scientific foundation for the selection and optimization of OSA animal models, which not only helps to deepen our understanding of the pathophysiological mechanisms of OSA but also promotes the development of new treatment methods.

Isolated Glossopharyngeal Nerve Herpes Zoster Infection Following Varicella Vaccination in an Emergency Physician: A Case Report.

Wide cleft palate repair poses a considerable challenge due to the potential for closure under tension, and an elevated risk of postoperative oronasal fistula and velopharyngeal insufficiency (VPI). Preoperative cleft width and Cleft Palate Index (CPI) are recognized as key predictors of outcome. This study presents Cleft Lip And Palate Association of Pakistan's (CLAPP) institutional experience with wide cleft palate repair, analyzing the influence of anatomical severity, surgical technique, and other variables on fistula formation and speech outcomes. A retrospective review was conducted of patients undergoing repair at CLAPP Hospital between January 2015 and December 2023. Data collected included demographics, cleft width, palatal shelf width, CPI, surgical technique, fistula location and rate, speech outcomes, and need for secondary speech-correcting surgery. Cleft width and CPI were stratified into predefined categories. Univariate and multivariate logistic regression were performed to identify predictors of postoperative fistula formation. A total of 293 patients (mean age 8 years, range 9 months-48 years) were included. Nearly one-third (35.5%) had cleft widths greater than the combined right and left palatal shelf widths. CPI distribution revealed progressive fistula rates from 12.1% in the narrowest group to 28.2% in the widest. The overall postoperative fistula rate was 21.2%, most frequently at the soft palate (27.4%) and hard-soft junction (12.9%). In univariate analysis, left palate width ≥ 1.1 cm and von Langenbeck repair were associated with significantly lower fistula rates, although only the latter remained significant in multivariate analysis (adjusted odds ratio = 0.34; 95% confidence interval = 0.16-0.72; P = 0.004). Bardach repair was preferentially performed in more severe, wider clefts, accounting for its higher unadjusted fistula rate. Preoperative and postoperative speech assessments (N = 173) showed a mean composite score improvement of 13.4%, with 8.9% requiring secondary speech-correcting surgery. Wide cleft palate repair outcomes are strongly influenced by cleft morphology, with CPI emerging as a key prognostic tool. While von Langenbeck repair demonstrated lower adjusted fistula rates, technique selection remains contingent on preoperative assessment, with Bardach repair favored in severe cases. Long-term monitoring for VPI is crucial, with early repair and tailored technique selection critical for optimizing functional outcomes in this challenging subset.

The purpose of this study was to perform a longitudinal comparative analysis of the palatoplasty techniques on the palatine surfaces in patients with Unilateral Cleft Lip and Palate (UCLP) surgeries. The subjects were divided into two groups: Group 1 (G1) – subjects who underwent cheiloplasty (Millard technique) and palatoplasty (von Langenbeck); Group 2 (G2) – subjects who underwent cheiloplasty (Millard technique) and palatoplasty in two stages: Hard palate palatoplasty (Hans Pichler technique) and palatoplasty (Sommerlad technique). The evaluation was performed in the following phases: T1 – pre-cheiloplasty, T2 – post-cheiloplasty and T3 – post-palatoplasty. The repeated measures ANOVA, followed by Tukey’s test and the independent and paired T-test were used to verify the results. During the intra-group analysis, in G1 there was an increase in ∠IC’T’ between phases T1 and T2 (p=0.004). Inversely, in ∠ICT there was a reduction between phases T1 and T2 (p&lt;0.001). In G2, IC’T’ increased between phases T1 and T2 (p&lt;0.001). In contrast, there was a reduction in the measure ∠ICT between phases T1 and T2 (p&lt;0.001). During the inter-group analysis, in G2 there was a considerable increase in the parameter ∠IC’T’ when compared to G1 (p=0.004). Both groups showed soft palate asymmetry (p&lt;0.001). This study concluded that patients who underwent palatoplasty in two stages showed better growth results in T2 when compared with patients who underwent palatoplasty in one stage. In T3, there were no statistically significant differences between the groups.

To validate and refine the existing understanding of the effectiveness of modified Z-plasty in cleft palate patients by comparing postoperative velopharyngeal function with that of healthy non-cleft individuals using MRI. The study involved six adults one year after modified Z-plasty and fourteen adults with healthy palates. MRI was used to assess the levator veli palatini (LVP) muscle and velopharyngeal structures during rest and phonation, including measurements of soft palate length and thickness. Patients post-modified Z-plasty demonstrated restored LVP muscle trajectory and contractility, yet differences in velopharyngeal dimensions persisted compared to the control group. MRI is a valuable tool for assessing velopharyngeal function. Modified Z-plasty can improve, but not fully normalize, velopharyngeal structures and function in cleft palate patients. These findings provide a reference for future optimization of surgical techniques and rehabilitation strategies in cleft palate repair.Supplementary InformationThe online version contains supplementary material available at 10.1038/s41598-025-25797-5.

Conflicting anatomical descriptions and functional interpretations have emerged regarding glandular structures located in the nasopharynx, particularly near the Eustachian tube. While some studies describe them as microscopic submucosal or tubal glands, others propose a distinct gland potentially salivary in nature. However, the majority of existing research has relied on imaging or histological analysis, with limited gross anatomical exploration. In view of these divergent perspectives and the paucity of macroscopic data, the present study aims to investigate this region through detailed cadaveric dissection, supplemented by microscopic validation, to clarify the structural identity and anatomical consistency of the glandular tissue in question. The study was conducted on 118 sides of embalmed adult cadaveric head specimens. Morphological and morphometric characteristics of the gland were recorded via dissection. Microscopic features were evaluated on 10 cadaver sides using Hematoxylin & Eosin and special stains to validate the macroscopic findings. A well-defined, lobulated glandular structure with a translucent covering was consistently identified deep to the mucosa of the tubal elevation and salpingopharyngeal fold, extending variably into the oropharynx, often reaching the lower border of the soft palate. The gland appeared as an elongated, triangular structure in this region. A distinct macroscopic duct was observed arising from the posterior aspect of the gland, coursing toward the pharyngeal recess; its presence and orientation were subsequently confirmed through histological examination. Microscopically, the gland exhibited a compound tubuloalveolar architecture, predominantly composed of mucous acini, along with a well-developed ductal system and the presence of myoepithelial cells. The duct opening was located near the junction of the nasopharynx and oropharynx, as indicated by the transition in epithelial lining between these two regions. This cadaveric study establishes the consistent presence of a well-defined glandular structure located beneath the mucosa of the tubal elevation and salpingopharyngeal fold, with variable extension into the oropharynx. For the first time, a macroscopic excretory duct was documented, arising from its posterior aspect and opening into the pharyngeal recess. The gland exhibited a distinct shape, reproducible location, and could be excised in toto, affirming its status as a discrete anatomical entity. Histological validation confirmed a compound tubuloalveolar architecture with mucous predominance and a well-developed ductal system. While its precise physiological role remains to be determined, these findings provide a definitive anatomical framework that can guide future radiological, functional, and clinical investigations.

Introduction: Myorhythmia is a rare hyperkinetic disorder characterized by slow (1–4 Hz), rhythmic involuntary movements, often linked to brainstem lesions such as pontine infarcts.¹ Post-stroke pontine damage can cause hemidystonia and tongue myorhythmia, both typically resistant to medical therapy.¹,² We report a case where stereotactic pallidotomy, performed primarily for hemidystonia, led to significant improvement of coexisting myorhythmia, suggesting a potential therapeutic benefit.Clinical description: A 62-year-old woman developed progressive right hemidystonia and complex myorhythmia four months after sustaining a left pontomesencephalic ischemic stroke. Neurological examination revealed right-sided hemiparesis, spasticity, severe dysarthria, and rhythmic involuntary movements (~3 Hz) involving the limbs, tongue, and soft palate. Given refractoriness to pharmacological treatment, the patient underwent stereotactic pallidotomy targeting the internal globus pallidus (GPi). Intraoperatively, immediate suppression of myorhythmia was observed, with sustained improvement at three months post-procedure, including a marked visual reduction of tongue tremor and only mild residual palatal involvement, giving an enhanced gait and overall quality of life.Discussion: Discussion: Differentiation of myorhythmia from Parkinsonian or dystonic tremor, and myokymia is crucial and relies on clinical evaluation supported by electromyography and imaging.¹ Pontine infarcts are a well-recognized cause of myorhythmia, typically showing limited response to pharmacological therapies. In this case, stereotactic pallidotomy was primarily performed to address hemidystonia³ but unexpectedly improved coexisting myorhythmia, which was not previously described in the literature. Tremor analysis of the limbs, using the iPhone StudyMyTremor application, revealed a significant postoperative reduction in amplitude (from 11.37 mm to 1.94 mm), power (from 116.26 mW to 24.28 mW), and synchronization (from 194.01 to 3.18), with minimal change in frequency (3.03 Hz preoperatively and 3.73 Hz postoperatively), resulting in substantial functional improvement to the patient.Conclusions: This case underscores pallidotomy’s potential as a therapeutic strategy for refractory post-stroke hyperkinetic movement disorders, particularly when myorhythmia coexists with dystonia, with significant reductions in tremor amplitude, power, and synchronization, contributing valuable insight to clinical practice.

Background: Intubation causes various side effects such as pain and parasympathetic stimulation, hemodynamic changes, increased intracranial pressure, and increased risk of intracranial hemorrhage. Topical lidocaine has been applied for decades via intratracheal spray, oxygen atomization, intracuff filling, or gel lubrication due to its advantages in simplicity of operation. Topical lidocaine is one of the drugs of choice to prevent post-intubation sore throat by decreasing the permeability of nerve membrane cells to sodium ions.Objective: To determine the relationship between the use of 10% lidocaine spray on the mole palate, posterior pharynx, tonsillar pillar, hypopharynx, and endotracheal tube on hemodynamics and post-intubation throat pain.Methods: This study employed a single-blind, randomized clinical trial design with 17 research subjects per group. Group A was given xylocaine spray on the endotracheal tube, and 17 subjects belonging to group B were given xylocaine spray on the soft palate, hypopharynx, and tonsil pillars.Result: Mean arterial pressure in this study in group A was found to be 91.11 + 6.55 and in group B 91.11 + 6.55, for post-operative sore throat (POST) scores in group A 0.51 + 0.26 and for group B 1.21 + 0.13.Conclusion: There is a difference between the use of 10% lidocaine spray on the soft palate, posterior pharynx, tonsillar pillars, hypopharynx, and endotracheal tube on hemodynamics and the incidence of sore throat after endotracheal intubation in elective patients with general anesthesia at RS Adam Malik, Medan.

ABSTRACTObjectivesOne method for the reconstruction of the entire soft palate is to use prelaminated radial forearm flaps (PRFFF). In a two‐step procedure the back of the flap is first epithelialized with split‐skin and subsequently used for soft palate reconstruction. Limited data exist on the perioperative and postoperative course of this technique. In this study, we investigated the perioperative course and postsurgical outcomes of patients who received a PRFF for soft palate reconstruction.MethodsAll patients, who received a PRFFF at our clinics since 2012 were identified retrospectively. The operation was carried out in two stages. The perioperative course, postoperative complications and the functional outcome were recorded by analyzing patient files and operation protocols.ResultsA total of 11 patients were enrolled (sex: 9 male, 2 female; age: 58 ± 14, 10/11 squamous cell carcinoma of the soft palate, 1/11 adenoid cystic carcinoma of the soft palate). Postoperative complications occurred in 6/11 patients. Three patients underwent revision surgery. One patient developed postoperatively a central pulmonary embolism leading to a prolonged intensive care unit stay. Flap viability was 100% across all cases and there was no high donor site morbidity in postoperative follow‐ups.ConclusionThe prelaminated radial forearm free flap allows a better physiological reconstruction of the soft palate while showing similar perioperative complication rates compared to the standard radial forearm free flap. In this case series no flap loss occurred, and functional outcomes were satisfactory.

To compare CT-derived anatomical geometry of the soft palate and clinical outcome following folded-flap palatoplasty (FFP) or traditional staphylectomy (TS). Client-owned French Bulldogs were prospectively enrolled between July 2021 and September 2024. An exercise tolerance test (ETT) and head CT were performed preoperatively and 3 months postoperatively. Dogs were randomized to receive FFP or TS in conjunction with modified multilevel surgery for brachycephalic obstructive airway syndrome (BOAS). Computed tomography measurements were performed and compared between groups. The length of the soft palate was measured from the end of the hard palate to the caudal tip of the soft palate. Soft palate thickness was measured by dividing the length into equal thirds, and measurements were taken of the rostral, middle, and caudal thirds. Eighteen dogs completed the study (FFP, n = 7; TS, 11). With the use of either surgical technique, soft palates were significantly shorter and significantly thinner postoperatively at the rostral and middle thirds but not at the caudal third when compared to preoperative measurements. Surgical technique was not shown to have a significant effect on the change in palatal length or thickness. There was no significant difference in improvement in ETT scores between the FFP and TS groups. FFP did not result in a significantly thinner or shorter palate or greater improvement in ETT score when compared to TS. Both techniques resulted in significantly shorter and thinner palates postoperatively. Equivalent clinical outcome can be expected following FFP or TS combined with modified multilevel surgical techniques for the treatment of BOAS.

Having nasal speech due to velopharyngeal insufficiency (VPI) remains one of the most difficult complications to manage after cleft palate repair. Over early childhood, persistent hypernasality can impede the psychosocial and communicative development of a child. The purpose of this study was to assess the results of secondary soft palate lengthening surgery on children older than five years with a history of primary palatoplasty and persistent nasal speech. In this study, 60 non-syndromic patients with cleft palate whose nasal speech was persistent after cleft palate repair were included from January 2018 to December 2024 at Misurata Medical Center, Libya. Each of them underwent soft palate lengthening, most by intravelar veloplasty, and some by posterior pharyngeal flap. All the patients had preoperative and 12-month postoperative speech evaluation from both perceptual (Pittsburgh Weighted Speech Scale) and instrumental (nasometry) analysis. For statistical analysis, paired t-tests were used, with P &lt; 0.05 considered significant. Of the total, 80% of patients had complete hypernasality correction, and 13.3% had partial correction. There was a significant improvement postoperatively on nasalance scores (48.5 ± 9.2% to 24.1 ± 6.8%, P &lt; 0.001). 85% of the patients had improved speech intelligibility, with more than 86% of parents satisfied with the overall results. 10% had transient snoring and 5% had wound dehiscence, both classified as minor complications and were conservatively managed. For patients older than five years, soft palate lengthening is a secondary procedure that is both safe and effective for persistent nasal speech after cleft palate repair. It shows remarkable positive outcomes in resonance, intelligibility, and psychosocial confidence

Velopharyngeal insufficiency (VPI) following oncologic resection of the soft palate in edentulous patients presents a major clinical challenge, often leading to hypernasal speech, nasal regurgitation, and impaired swallowing. Advances in digital technology have enabled the fabrication of precise and functionally efficient prostheses through computer-aided design/computer-aided manufacturing (CAD/CAM) and three-dimensional (3D) printing. This report describes the prosthodontic rehabilitation of a 68-year-old male with post-radiotherapy soft palate resection using a fully digital workflow to fabricate a 3D-printed complete denture with an integrated speech bulb. Following a conventional preliminary impression, the definitive cast was digitised, and all subsequent stages --including custom tray design, virtual denture base modelling, and prosthesis fabrication --were performed using CAD software and additive manufacturing. The speech bulb extension was digitally contoured to achieve functional velopharyngeal closure. At insertion and during the three-month follow-up, the prosthesis demonstrated excellent adaptation, retention, and comfort, with significant improvement in speech intelligibility, swallowing, and overall quality of life. This case highlights the clinical advantages of integrating digital workflows and 3D printing in maxillofacial prosthetic rehabilitation, providing a reproducible, minimally invasive, and patient-centred approach for managing velopharyngeal insufficiency following oncologic resection.

Intraoperative monitoring of trigemino-palatal responses.

This report presents a single-institution prospective case series evaluating the feasibility and effect of outpatient local anaesthesia radiofrequency ablation-assisted soft palate volumetric tissue reduction (RFA-SP) and turbinoplasty (RFA-T) for treatment of patients with obstructive sleep apnoea (OSA) and/or snoring. A total of 72 patients with Apnea-Hypopnoea Index (AHI) > 5 and/or subjective snoring treated in 2024 were evaluated after surgery, including cardiorespiratory monitoring (CRM) and patient questionnaire evaluation. Main endpoints were AHI, Snore Index (SI), Epworth Sleepiness Scale and scored impact of sleep-disordered breathing on quality of life. We conclude that the procedures have low morbidity and high patient satisfaction. Approximately one in two patients had improved symptoms. However, improvement in AHI and SI was mainly seen in total or non-supine positions. The main limitations of our study are: the placebo effect in patient self-evaluations, the relatively small study population, the availability of comprehensive and recent pre- and post-surgery CRMs and the underlying premise that the mechanisms of sleep-disordered breathing remain poorly understood. Outpatient RFA-SP and RFA-T under local anaesthesia effectively improve symptoms and quality of life in patients with OSA and snoring, producing complete resolution in selected cases. The best outcomes are seen in non-supine OSA, highlighting the need for careful preoperative assessment to optimise patient selection. None. The study protocol was approved by the Aarhus University Hospital Management. The Central Denmark Region Committees on Health Research Ethics were consulted and found the project non-notifiable.

This clinical report aims to highlight the complications associated with cocaine use, particularly focusing on oronasal perforations, and demonstrate the efficacy of using a maxil-lary obturator for rehabilitating palatal defects to restore oral functions. Material and Meth-ods: A 60-year-old male patient with a history of cocaine abuse presented with an oronasal perforation in the hard and soft palate after multiple surgical interventions. He reported issues with hypernasal speech and difficulties swallowing. A prosthodontic approach was employed; a removable obturator was fabricated using impression techniques with care to minimize weight and maximize functionality. Post-delivery, the obturator successfully restored the patient's ability to speak and swallow normally, with significant improvements reported in aesthetic outcomes. Regular follow-ups demonstrated the prosthesis's stability. The findings suggest that prosthetic rehabilitation with an obturator is a viable and effective solution for managing palatal perforations resulting from cocaine use, significantly improving oral functions and quality of life. This approach highlights the need for comprehensive treatment plans that include both prosthetic management and encouragement toward substance abstinence, emphasizing the multifaceted public health implications of cocaine addiction and its complications.

ObjectiveTo compare speech outcomes in 4 groups of 5-year-olds with cleft of the hard and soft palate: with Robin sequence without additional conditions (RS-), with Robin sequence with additional conditions (RS+), without Robin sequence with additional conditions (CP+), and without Robin sequence without additional conditions (CP-).DesignRegistry-based cohort study.SettingRegional public care university hospitals in Sweden.ParticipantsA total of 433 children with cleft of the hard and soft palate: 72 with RS-, 28 with RS+, 61 with CP+, and 272 with CP-.InterventionsPrimary cleft palate repair in 1 or 2 stages.Main outcome measuresDichotomized outcomes of percentage of consonants correct, percentage of nonoral speech errors, and velopharyngeal competence. Logistic regression was used for statistical analysis.ResultsChildren with RS+ had significantly lower odds of age-appropriate consonant production (OR 0.17, 95% CI 0.08-0.40), no nonoral speech errors (OR 0.17, 95% CI 0.07-0.39), and velopharyngeal competence (OR 0.24, 95% CI 0.10-0.56) than those with CP-. Significantly lower odds of age-appropriate consonant production were found for children with RS- (OR 0.50, 95% CI 0.29-0.88) and CP+ (OR 0.45, 95% CI 0.24-0.84) than children with CP-.ConclusionsBoth Robin sequence and additional conditions were associated with decreased odds of age-appropriate consonant production at 5 years of age. For children with RS+, the odds were further reduced, and they also had decreased odds of no nonoral speech errors and of velopharyngeal competence. The results can form the basis for informing parents and planning intervention.

Nonsyndromic cleft palate only (NSCPO) significantly impairs swallowing and speech, reducing quality of life. While surgical interventions offer some improvement, full recovery remains challenging, underscoring the need for a deeper understanding of its etiology. This study aimed to investigate the genetic architecture of nonsyndromic cleft palate only (NSCPO) in the Han Chinese population, focusing on identifying novel susceptibility loci by leveraging data from previous genome-wide association studies and functional genomic datasets from the ENCODE project. We identified significant associations between NSCPO subtypes (incomplete cleft palate and hard and soft cleft palate) and variants such as rs660975 in IRF6, rs3758244 in CDC37L1, and rs4880224 in BNIP3. Functional validation studies, including chromatin conformation capture and dual-luciferase assays, demonstrated that these single-nucleotide polymorphisms influence enhancer activity, thereby affecting gene expression. In addition, subtype-specific analyses revealed novel associations that may be obscured in mixed phenotypic cohorts. The findings highlight the importance of investigating genetic contributions at the subtype level to elucidate the complex etiology of cleft palate and demonstrate that the associated variants have functional effects in vitro, suggesting their roles in the pathogenesis of NSCPO.