Submucous Cleft Palate Research Articles

A Comparative Effectiveness Study of Speech and Surgical Outcomes: Study Overview.

To provide an overview of the Cleft Outcomes Research NETwork (CORNET) and the CORNET Speech and Surgery study. The study is (1) comparing speech outcomes and fistula rate between two common palate repair techniques, straight-line closure with intra-velar veloplasty (IVVP) and Furlow Double-Opposing Z-palatoplasty (Furlow Z-plasty); (2) summarizing practice variation in the utilization of early intervention speech-language (EI-SL) services; and (3) exploring the association between EI-SL services and speech outcomes. Prospective, longitudinal, observational, comparative effectiveness, multi-center. Twenty sites across the United States. One thousand two hundred forty-seven children with cleft palate with or without cleft lip (CP ± L). Children with submucous cleft palate or bilateral sensorineural severe to profound hearing loss were excluded from participation. Straight-line closure with IVVP or Furlow Z-plasty based on each surgeon's standard clinical protocol. The primary study outcome is perceptual ratings of hypernasality judged from speech samples collected at 3 years of age. Secondary outcomes are fistula rate, measures of speech production, and quality of life. The statistical analyses will include generalized estimating equations with propensity score weighting to address potential confounders. Recruitment was completed in February 2023; 80% of children have been retained to date. Five hundred sixty two children have completed their final 3-year speech assessment. Final study activities will end in early 2025. This study addresses long-standing questions related to the effectiveness of the two most common palatoplasty approaches and describes CORNET which provides an infrastructure that will streamline future studies in all areas of cleft care.

A Case Report on Infant Aural Rehabilitation Using Korean Auditory, Language, and Cognitive Rehabilitation for Infants

The purpose of this paper is to report the effectiveness and significance of aural rehabilitation using the Korean Auditory, language, and cognitive Rehabilitation for Infants (KARI) program. The KARI program was administered to an infant diagnosed with hearing loss at 9 months of age. A total of 45 KARI sessions were conducted for 13 months. Four developmental areas, auditory, language and social communication, overall and vocal and articulatory were evaluated at 10, 15, and 18 months of age for initial, progress, and final tests. After aural rehabilitation with KARI, in the area of auditory development, the infant showed normal range. In the area of language and social communication, the infant exhibited normal receptive language and non-verbal communication skills but showed significant delays in speech due to the diagnosed submucous cleft palate. In the area of overall developmental screening, Korean Developmental Screening Test for Infants & Children scores were at peer level in cognition and social skills. However, gross motor, fine motor, language, and self-help skills were in the range of needing further testing. In the areas of vocalization and articulation, vocalization showed normal range, but articulation development showed delayed development. Although development of expressive language and articulation was delayed due to submucous cleft palate, the overall results showed good progression with KARI in other areas. Therefore, it is hoped that the KARI would be used to promote aural rehabilitation for the infants with hearing impaired.

Cephalometric Pharyngeal Morphology in Adults with Unoperated Cleft Palate.

The aim of this study was to cephalometrically evaluate the pharyngeal morphology in adults with unoperated Submucous Cleft Palate (SMCP), adults with unoperated Overt Cleft Palate (OCP), and adults without clefts. This study employed a retrospective cross-sectional design. Lateral cephalometric radiography was performed on three groups of adults: 1) 29 with unrepaired SMCP; 2) 41 with unrepaired OCP; and 3) 39 without clefts, who served as controls. One-way ANOVA and rank-sum tests were used for intergroup comparisons. P value was set at .05. The soft palate length and the ratio of soft palate length to pharyngeal depth were significantly lower in subjects with unoperated SMCP and OCP than in non-cleft controls. Significant differences were also observed in pharyngeal depth, nasopharyngeal depth, and posterior pharyngeal wall thickness between subjects with unoperated OCP and non-cleft controls. Pharyngeal morphology differs significantly between individuals with and without clefts, particularly in soft palate length and the ratio of soft palate length to pharyngeal depth.

Comparison of Speech Outcomes Between Speech Therapy Only and Double-Opposing Z-Plasty Combined With Speech Therapy in Patients With Submucous Cleft Palate.

The purpose of this study was to compare speech outcomes in patients with submucous cleft palate (SMCP) between speech therapy alone and double-opposing Z-plasty (DOZ) combined with speech therapy. The subjects were 67 patients with SMCP (overt type, 45 males, 22 females), who were divided into the observation group (n=18), the speech therapy group (n=24; duration, 17.8mo), and the DOZ and speech therapy (DOZ-speech therapy) group (n=25; median age at DOZ, 5.3 years, duration, 18.6mo). The median age at initial and final speech assessments were 3 and 5 years. After age, sex, syndromic status, duration of speech therapy, surgery timing, and speech outcomes were investigated, statistical analysis was performed. After tailored interventions, both isolated and non-isolated SMCP patients experienced significant improvements in speech outcomes, including nasal emission, hypernasality, compensatory articulation, and unintelligible speech. Since comparable improvements were observed, there were no significant differences in the final assessments regardless of initial speech issues between the speech therapy group and the DOZ-speech therapy group (all P>0.05). In the DOZ-speech therapy group, the rate of achieving "socially acceptable" speech was 92.3% in isolated cases and 90% in non-isolated cases. Multivariate analysis revealed that DOZ showed a tendency to reduce hypernasality, compensatory articulation, and "unintelligible" speech; syndromic or developmental conditions influenced outcomes in nasal emission and hypernasality; and initial hypernasality and compensatory articulation were correlated with outcomes. Therefore, DOZ surgery could be recommended to resolve hypernasality and compensatory articulation in SMCP patients before speech issues worsen.

A Review of Socioeconomic Disparities in Submucous Cleft Diagnosis and Outcomes.

Submucous cleft palate (SMCP) is a common congenital anomaly characterized by a diastasis of the levator veli palitini muscle. The subtlety of SMCP on physical examination can contribute to diagnostic delays. This study aims to analyze the factors contributing to delays in care and subsequent postoperative outcomes in patients with SMCP. All patients with surgical indications for SMCP who underwent palatoplasty at an urban academic children's hospital were included. Patient socioeconomic characteristics, medical history, and postoperative outcomes were collected. Patients were compared based on insurance type and government assistance utilization. Statistical analyses including independent t-test, Wilcoxon ranked sum test, χ2 analyses, Fisher's exact test, and stepwise logistic regression were performed. Among the 105 patients with SMCP, 69.5% (n=73) had public insurance and 30.5% (n=32) private. Patients with public insurance were diagnosed later (5.5±4.6 versus 2.6±2.4 years old; p<0.001) and underwent palatoplasty later (7.3±4.1 versus 4.4±3.4 years old; p<0.001) than those with private insurance. Patients receiving government assistance experienced higher rates of post-surgical persistent velopharyngeal insufficiency (74.5% versus 44.8%; p=0.006). The authors' results suggest a disparity in the recognition and treatment of surgical SMCP. Hence, financially vulnerable populations may experience an increased risk of inferior speech outcomes and subsequent therapies and procedures.

Characteristic craniofacial defects associated with a novel USP9X truncation mutation

Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. Our findings provide further evidence that disruptions in USP9X contribute to a broad range of congenital craniofacial abnormalities.

Impact of anatomical abnormalities on velopharyngeal insufficiency in patients with submucous cleft palate

BackgroundSubmucous cleft palate (SMCP) is a congenital anomaly characterized by Calnan's triad. However, in clinical practice, it is common forindividuals to exhibit one or two anatomical abnormalities within the triad. Furthermore, the definition of SMCP has been diverse and ambiguous in previous studies. Therefore, this study aimed to analyze the correlation between anatomical abnormalities and development of velopharyngeal insufficiency (VPI). MethodsWe conducted a retrospective analysis of 99 patients referred to our clinic for speech issues or anatomical abnormalities identified during routine oral examinations from January 2012 to June 2023. A single surgeon performed all physical examinations. We evaluated the presence of a bony notch, zona pellucida, and bifid uvula, assigning a score to each, and analyzed their correlation with VPI. The correlation with each of the abnormalities for VPI was examined, along with the relationship between the number of abnormalities and VPI. ResultsOf the 99 patients, 27 were diagnosed with VPI. Only the bony notch had a significant correlation with the development of VPI. The incidence of VPI tended to increase with the presence of more anatomical abnormalities. VPI occurred in approximately 40% of patients exhibiting all three anatomical abnormalities. ConclusionThe study findings highlight the importance of meticulous intraoral examinations in SMCP patients and careful monitoring in patients with a bony notch or two or more anatomical abnormalities.

Impact of upper airway obstruction management in Robin Sequence on need for myringotomy tubes

ObjectiveInvestigate an association between upper airway obstruction (UAO) management in Robin Sequence (RS) and need for bilateral myringotomy and tubes (BMT). MethodsRetrospective chart review of RS patients treated at a tertiary free-standing pediatric hospital from 1995 to 2020 was performed. Patients were grouped based on airway management: conservative, tracheostomy, tongue-lip adhesion (TLA), and mandibular distraction osteogenesis (MDO). Demographic data, cleft palate (CP) association, numbers of BMT and ear infections, and audiogram data including tympanograms were collected. One-way ANOVA and Chi-square/Fisher's exact tests were used to compare continuous and categorical data, respectively. Multivariable regression analysis was used to compare BMT rates between treatment groups. ResultsOne hundred forty-eight patients were included, 70.3 % of which had CP. Most patients (67.6 %) had at least one BMT; 29.1 % required two or more BMT. The rate of BMT was higher in patients with CP compared to those with intact palates (p = 0.003; 95 % CI 1.30–3.57) and those treated with tracheostomy (p = 0.043; 95 % CI 1.01, 2.27). Surgically managed patients were more likely to have hearing loss (67.5 % vs. 35.3 %, p = 0.017) and ear infections (42.1 % vs. 20.0 %, p = 0.014) pre-compared to post-procedure for airway management. ConclusionMost RS patients require at least 1 set of BMT. Those with CP and/or treated with tracheostomy had a higher likelihood of needing BMT. Rate of hearing loss and ear infection was higher in surgically managed RS patients. Patients with RS and overt CP require a statistically higher number of BMTs compared to those with either submucous cleft palate or intact palate.

Incidence of Velopharyngeal Insufficiency after Primary Cleft Palate Repair: A 27-Year Assessment of One Surgeon's Experience.

Background Velopharyngeal insufficiency (VPI) is a major complication of cleft palate repair. The purpose of this study was to evaluate the incidence and predictive factors of VPI after cleft palate repair based on 27 years of one surgeon's experience. Methods Medical records were retrospectively reviewed for 652 patients who underwent cleft palate repair between 1995 and 2021. After exclusion of those with other syndromes or developmental disorders, the study included 374 patients with sufficient follow-up until the age of 4 years, when language evaluation was possible. VPI status was categorized through subjective and objective tests into normal, VPI, and borderline. We analyzed potential differences in VPI incidence by multiple factors. Factors with significance were analyzed to confirm the relationships between subvariables. Results Of the 374 patients, 311 (83.2%) exhibited normal pronunciation, 51 (13.6%) had VPI, and 12 (3.2%) were borderline. Primary cleft palate repair performed after 18 months was associated with a higher incidence of VPI than repair conducted before 18 months ( p = 0.005). The incidence of VPI was higher in cases of submucous cleft palate than in the other types based on the Veau classification ( p = 0.011). However, in the multivariable analysis, only the submucous type showed statistically significant results ( p = 0.026). Conclusion A total of 374 people underwent primary cleft palate repair, and 13.6% of those with VPI required secondary therapy. The incidence of VPI was relatively high among patients with primary cleft palate repair after 18 months and patients with submucous cleft palate.

The presence of a submucous cleft palate in patients with isolated cleft lip and middle ear dysfunction

PurposeRecent studies have suggested that children with an isolated cleft lip (CL) are more likely to develop middle ear disease and eustachian tube dysfunction (ETD) compared to the general population. This may be related to abnormal palatal musculature or an undiagnosed submucosal cleft palate (SMCP). We aim to determine the prevalence of SMCP in patients with CL who exhibit ETD. Materials and methodsA retrospective chart review was performed for children with an isolated CL requiring tympanostomy tubes over a 20-year period at an academic tertiary care medical center. Demographic, clinical, and surgical data were collected. ResultsThree hundred twelve patients had an isolated CL, and 29 (9.3 %) children required tympanostomy tubes. Of those, nine (31 %) were found to have a SMCP (7 males, 6 Caucasian). The average age at CL repair was 3.94 ± 1.03 months, and the average age at tympanostomy tube placement was 13.68 ± 13.8 months. All nine patients had chronic otitis media, with four having mild conductive hearing loss and three having moderate conductive hearing loss. The SMCP was diagnosed at the time of CL diagnosis (4), after CL diagnosis with the diagnosis of chronic otitis media/ETD (2) and after a diagnosis of chronic otitis media/ETD. ConclusionMiddle ear disease or eustachian tube dysfunction in a patient with an isolated cleft lip should raise suspicion for an accompanying undiagnosed SMCP.

A rare case report of bifid or double uvula in a 45-year-old woman

Bifid uvula, a congenital anatomical variation characterized by the splitting of the uvula into two distinct lobes is a relatively uncommon condition in adults and often considered a marker for submucous cleft palate.

Evaluation of the effect of palatoplasty on the quality of life and speech outcomes in patients with velocardiofacial syndrome.

Children diagnosed with velocardiofacial syndrome (VCFS) suffer from various disabilities. Palatal abnormalities, as well as speech and language impairment, adversely affect a child's quality of life (QoL) and are some of the most distressing aspects for the parents of these children. The present study aimed to explore the effect of palatoplasty on the health-related quality of life (HRQoL) and speech outcomes in children with VCFS. The study recruited 20 patients (N = 20) with VCFS and connected speech, aged 3 years or older, having either undiagnosed submucous cleft palate (SMCP) or velopharyngeal insufficiency (VPI), and requiring primary cleft palate surgery or revision surgery. Speech assessment was conducted prior to palatoplasty and 6 months after the surgery. Intelligibility and hypernasality were evaluated using the Cleft Audit Protocol for Speech - Augmented (CAPS-A). The parent proxy-report form of the Pediatric Quality of Life Inventory (PedsQL™) was used to evaluate and compare the HRQoL of the VCFS patients before and after palatoplasty. Significant improvement in the HRQoL scores was achieved after the surgery across all domains (physical, emotional, social, and school functioning), especially in the emotional and social dimensions (p < 0.000). The post-operative speech assessment based on CAPS-A demonstrated improvement in speech intelligibility and hypernasality in the majority of patients. Given that children with VCFS face various medical and social problems, suitable palatal interventions are beneficial, improving both the speech ability and QoL of these children.

The Relationship between Submucous Cleft Palate and a History of Nasal Regurgitation in Patients during Infancy

The Relationship between Submucous Cleft Palate and a History of Nasal Regurgitation in Patients during Infancy

45. A Retrospective Analysis of Speech and Hearing in Patients Receiving Surgery for Submucous Cleft Palate

45. A Retrospective Analysis of Speech and Hearing in Patients Receiving Surgery for Submucous Cleft Palate

A - 111 Neuropsychological Performance in CDK-13 Related Disorder: a Multi-Year Case Study.

CDK13-related disorder (CDK13-RD) is a rare genetic condition first described in 2016 as involving congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Few studies have reported clinical presentations. There is very minimal information about cognitive and neuropsychological outcomes; however, developmental delays and intellectual disability are common. This study presents longitudinal neuropsychological outcomes of one adolescent with CKD13-RD. A female patient underwent five neuropsychological evaluations over eight years due to learning concerns. Pregnancy complications included recurrent maternal infections/treatment and fetal heart deceleration. The patient was born at full-term with average birthweight. Patient's history includes developmental delays, cerebral palsy, learning disabilities, anxiety, atrial septal defect, abnormal MRI and EEG, submucous cleft palate, velopharyngeal insufficiency, and craniofacial dysmorphisms. Genetic tests confirmed a likely pathogenetic variant in the CDK13-gene at 9-years-old. Patient's intellectual functioning varied during the five evaluations, with heterogeneous performance across indices. Verbal comprehension was often a strength in the low average to average ranges. Visual perception, nonverbal reasoning, fine motor coordination/planning, attention, and aspects of executive functioning were consistently impaired. Memory across evaluations was variable but broadly average. Caregiver reports revealed increasing executive and adaptive functioning concerns and fluctuating mood/behavioral concerns across evaluations. Patient's overall intellectual functioning is generally stronger than expected compared to the few available studies. This case adds to the scarce literature on neuropsychological outcomes in children with CKD13-RD and helps elucidate developmental trends given these serial results. Additional research is needed to better understand neuropsychological presentations and long-term outcomes in children with CKD13-RD.

A retrospective cephalometric study on the craniofacial morphology of adult patients with unoperated submucous cleft palate

This retrospective cross-sectional study reviewed adult patients with unrepaired SMCP, OCP and normal control and performed comprehensive skeletal and soft tissue morphological analyses basing on lateral cephalometric radiographs. One way-ANOVA and rank-sum tests detected potential intergroup differences. 32 subjects with unrepaired SMCP, 42 with unrepaired OCP and 28 noncleft normal controls were enrolled. Both the SMCP and OCP groups were significantly different from the normal controls in sagittal maxillary length, jaw relationship, facial profile angle, nasal base and nasal tip prominence, upper lip position, and lower lip protrusion. S–N-A angle in the control group (82.25 ± 2.74°) was significantly greater than in the SMCP (77.96 ± 4.05°, p<0.001) and OCP (78.55 ± 2.93°, p<0.001) groups. Nasolabial angle in the control group (99.18 ± 8.76°) was significantly greater than in the SMCP (91.75 ± 8.93°, p = 0.002) and OCP (93.69 ± 7.24°, p = 0.020) groups. No significant difference was detected between the SMCP and the OCP group in other measurements except upper facial height. Within the limitations of the study it seems that craniofacial growth is impaired in patients with submucous clefts to the same extent as in patients with a conventional cleft palate.

Speech Outcomes and Velopharyngeal Function in Children Undergoing Submucous Cleft Palate Repair.

Describe and compare the results of speech and velopharyngeal function in children with classic and occult submucous cleft palate undergoing interdisciplinary treatment at the Gantz Foundation. The clinical history of all patients born between 2012 and 2017 with a diagnosis of classic or occult submucous cleft palate was retrospectively reviewed. Preoperative and postoperative medical, surgical, and speech and language history were collected. Twenty-eight cases diagnosed at the age of 44.8±23.9 months were included. Of these, 71.4% presented classic submucous cleft, and 28.6% occult. Before primary surgery, 7.1% had a diagnosis of the syndrome, and 21.4% were under study. A total of 39.3% had hearing difficulties and 21.4% used tympanic ventilation tubes. A total of 60.7% had language problems, 39.3% had compensatory articulation, 17.9% had absent hypernasality, and 21.4% had absent nasal emission. The team indicated primary palate surgery in 71.4%, of which 85% performed the surgery at the mean age of 61.7±24.7 months. The surgical technique was Furlow in 88.2% of the cases and intravelar veloplasty in the remaining 11.8%. Then, 3 cases underwent velopharyngeal insufficiency surgery; 2 of them eliminated hypernasality and reduced nasal emission. The age of diagnosis ( P =0.021) and the performance of velopharyngeal insufficiency surgery ( P =0029) of the occult submucous cleft palate group was significatively later than the classic cleft palate group. Language, hearing, compensatory articulation, hypernasality, and nasal emission problems were recorded. A high percentage required primary surgery. Of these, a low proportion also required a velopharyngeal insufficiency surgery, which improved the velopharyngeal function of the children but did not completely adapt it. In this regard, early diagnosis is essential, as well as an analysis of each center primary closure protocol.

Efficacy of CPAP Therapy in Reducing Hypernasality in a Case with Repaired Submucous Cleft Palate

Efficacy of CPAP Therapy in Reducing Hypernasality in a Case with Repaired Submucous Cleft Palate

An essential overview of orofacial clefting.

An appreciation of the embryologic development of the face is essential to understanding the anatomic variation observed in this phenotypically broad condition. Embryologically, the nose, lip and palate are separated into the primary and secondary palate, which are divided anatomically by the incisive foramen. The epidemiology of orofacial clefting is reviewed together with the contemporaneous cleft classification systems that enable comparisons to be made between international centres for audit and research purposes. A detailed examination of the clinical anatomy of the lip and palate informs the surgical priorities for the primary reconstruction of both form and function. The pathophysiology of the submucous cleft palate is also explored. The seismic impact of the 1998 Clinical Standards Advisory Group report on the organisation of UK cleft care provision is outlined. The importance of the Cleft Registry and Audit Network database in auditing UK cleft outcomes is highlighted. The potential for the Cleft Collective study to establish the causes of clefting, the optimal treatment protocols, and the impact of cleft on patients is tremendously exciting for all health care professionals involved in the management of this challenging congenital deformity.

Branchio‐oto‐renal syndrome with submucous cleft palate: A case report

AbstractBackgroundBranchio‐oto‐renal (BOR) syndrome is an autosomal dominant disorder characterized by malformations of the second branchial arch, hearing impairments, and renal anomalies.Case presentationA male infant diagnosed with BOR syndrome presents with an asymmetrical face, forehead protrusion, auricle dysplasia, left external auditory canal closure, hearing impairment, mandibular hypoplasia, submucous cleft palate, facial nerve palsy, renal atrophy, and malalignment of the second toe. Palatoplasty was performed.ConclusionThis case report and related literature review have contributed to existing knowledge regarding BOR syndrome, a rare disorder.