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Objective: Palatal lift appliances have a role in management of velopharyngeal dysfunction for immobile palates of adequate length where surgery is contraindicated. Conventional appliances involve acrylic/wire work adjustment over successive appointments until they can be tolerated without gagging. A novel appliance has been developed where the lifting plate is incrementally distalized by the patient and vertically adjusted to optimize soft palate positioning. Method: The design, construction, and utility of the appliance, which was developed in Dundee Dental Hospital, are described. Participants: The subject was a 12-year-old boy with a variant of Moebius syndrome and velopharyngeal dysfunction. Previous pharyngoplasty had been carried out and further surgery was contraindicated. Interventions: The appliance is constructed and fitted and the flexible spring arm is vertically adjusted to lift the soft palate. The screw is turned incrementally at home, extending the lifting plate posteriorly. Videofluoroscopy allows visualization of the appliance and soft palate positioning. Main Outcome Measures/Results: The procedure improved soft palate positioning, as demonstrated by videofluoroscopy, and objective speech outcomes. Conclusions: The appliance was well tolerated and led to improved speech outcomes for the patient. Adjustments were quick and easy for both clinician and patient. Further studies are needed to definitively determine the efficacy of the appliance. [ABSTRACT FROM AUTHOR]

Background: Among infants with isolated cleft palate, whether primary surgery at 6 months of age is more beneficial than surgery at 12 months of age with respect to speech outcomes, hearing outcomes, dentofacial development, and safety is unknown., Methods: We randomly assigned infants with nonsyndromic isolated cleft palate, in a 1:1 ratio, to undergo standardized primary surgery at 6 months of age (6-month group) or at 12 months of age (12-month group) for closure of the cleft. Standardized assessments of quality-checked video and audio recordings at 1, 3, and 5 years of age were performed independently by speech and language therapists who were unaware of the trial-group assignments. The primary outcome was velopharyngeal insufficiency at 5 years of age, defined as a velopharyngeal composite summary score of at least 4 (scores range from 0 to 6, with higher scores indicating greater severity). Secondary outcomes included speech development, postoperative complications, hearing sensitivity, dentofacial development, and growth., Results: We randomly assigned 558 infants at 23 centers across Europe and South America to undergo surgery at 6 months of age (281 infants) or at 12 months of age (277 infants). Speech recordings from 235 infants (83.6%) in the 6-month group and 226 (81.6%) in the 12-month group were analyzable. Insufficient velopharyngeal function at 5 years of age was observed in 21 of 235 infants (8.9%) in the 6-month group as compared with 34 of 226 (15.0%) in the 12-month group (risk ratio, 0.59; 95% confidence interval, 0.36 to 0.99; P = 0.04). Postoperative complications were infrequent and similar in the 6-month and 12-month groups. Four serious adverse events were reported (three in the 6-month group and one in the 12-month group) and had resolved at follow-up., Conclusions: Medically fit infants who underwent primary surgery for isolated cleft palate in adequately resourced settings at 6 months of age were less likely to have velopharyngeal insufficiency at the age of 5 years than those who had surgery at 12 months of age. (Funded by the National Institute of Dental and Craniofacial Research; TOPS ClinicalTrials.gov number, NCT00993551.)., (Copyright © 2023 Massachusetts Medical Society.)

Introduction: Surgeons and allied professionals have been quick to respond to the need for evidence during the COVID-19 pandemic. The Royal College of Surgeons of England (RCS England) has provided formal recognition, support and guidance to all members of its interdisciplinary collaborative COVID Research Group (RCS CRG). We describe research conducted by members of this group, initial findings and lessons for clinical practice so far., Methods: Members of the more than 50 projects included so far in the RCS CRG portfolio were invited to provide a summary of their project and findings to date. The 26 summaries received were collated and broad themes identified to produce this summary document., Results: Wide-ranging projects have been conducted by members of the RCS CRG, rapidly yielding crucial insights into the behaviour of the SARS-CoV-2 pathogen, its impact on patients and staff, the challenges it presents to surgical practice and investigation into methods to adapt and overcome such challenges., Conclusions: The response of the surgical research community to COVID-19 has been rapid and well-organised. Early establishment of a formal network under the auspices of RCS England has assisted efficient research collaboration and delivery, while avoiding academic duplication between groups. This has led to a high research output, directly informing and substantially influencing practice throughout and beyond the pandemic.

Hypernasality is a disorder where excess nasal resonance is perceived during speech, often as a result of abnormal coupling between the oral and nasal tracts known as velopharyngeal insufficiency (VPI). The most common cause of VPI is a cleft palate, which affects around 1 in 1650 babies, around ⅓ of whom have persistent speech problems after surgery. Current equipment-based assessment methods are invasive and require expert knowledge, and perceptual assessment methods are limited by the availability of expert listeners and differing interpretations of assessment scales. Spectral analysis of hypernasality within the academic community has resulted in potentially useful spectral indicators, but these are highly variable, vowel specific, and not commonly used within clinical practice. Previous works by others have developed noise excitation technologies for the measurement of oral tract transfer functions using resonance measurement devices (RMD). These techniques provide an opportunity to investigate the structural system abnormalities which lead to hypernasality, without the need for invasive measurement equipment. Thus, the work presented in this study adapts these techniques for the detection of hypernasality. These adaptations include augmentation of the hardware and development of the software, so as to be suitable for transfer function measurement at the nostrils rather than the mouth (nRMD). The new method was tested with a single participant trained in hypernasal production, producing 'normal' and hypernasal vowels, and the recordings validated through a listening test by an expert listener and calculation of nasalance values using a nasality microphone. These validation stages indicated the reliability of the captured data, and analysis of the nRMD measurements indicated the presence of a systematic difference in the frequency range 2 to 2.5 kHz between normal and hypernasal speech. Further investigation is warranted to determine the generalisability of these findings across speakers, and to investigate the origins of differences manifesting in the transfer functions between conditions. This will provide new insights into the effects of nasal tract coupling on voice acoustics, which could in turn lead to the development of useful new tools to support clinicians in their work with hypernasality., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2022 The Author(s).)

Competing Interests: Competing interests: None declared.

The bellwether procedures described by the Lancet Commission on Global Surgery represent the ability to deliver adult surgical services after there is a clear and easily made diagnosis. There is a need for pediatric surgery bellwether indicators. A pediatric bellwether indicator would ideally be a routinely performed procedure, for a relatively common condition that, in itself, is rarely lethal at birth, but that should ideally be treated with surgery by a standard age. Additionally, the condition should be easy to diagnose, to minimize the confounding effects of delays or failures in diagnosis. In this study, we propose the age at primary cleft lip (CL) repair as a bellwether indicator for pediatric surgery., Method: We reviewed the surgical records of 71,346 primary cleft surgery patients and ultimately studied age at CL repair in 40,179 patients from 73 countries, treated by Smile Train partners for 2019. Data from Smile Train's database were correlated with World Bank and WHO indicators., Results: Countries with a higher average age at CL repair (delayed access to surgery) had higher maternal, infant, and child mortality rates as well as a greater risk of catastrophic health expenditure for surgery. There was also a negative correlation between delayed CL repair and specialist surgical workforce numbers, life expectancy, percentage of deliveries by C-section, total health expenditure per capita, and Lancet Commission on Global Surgery procedure rates., Conclusion: These findings suggest that age at CL repair has potential to serve as a bellwether indicator for pediatric surgical capacity in Lower- and Middle-income Countries., (Copyright © 2021 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of The American Society of Plastic Surgeons.)

Background: It is anticipated that in due course the burden of emergency care due to COVID-19 infected patients will reduce sufficiently to permit elective surgical procedures to recommence. Prioritizing cleft/craniofacial surgery in the already overloaded medical system will then become an issue. The European Cleft Palate Craniofacial Association, together with the European Cleft and Craniofacial Initiative for Equality in Care, performed a brief survey to capture a current snapshot during a rapidly evolving pandemic., Methods: A questionnaire was sent to the 2242 participants who attended 1 of 3 recent international cleft/craniofacial meetings., Results: The respondents indicated that children with Robin sequence who were not responding to nonsurgical options should be treated as emergency cases. Over 70% of the respondents indicated that palate repair should be performed before the age of 15 months, an additional 22% stating the same be performed by 18 months. Placement of middle ear tubes, primary cleft lip surgery, alveolar bone grafting, and velopharyngeal insufficiency surgery also need prioritization. Children with craniofacial conditions such as craniosynostosis and increased intracranial pressure need immediate care, whilst children with craniosynostosis and associated obstructive sleep apnea syndrome or proptosis need surgical care within 3 months of the typical timing. Craniosynostosis without signs of increased intracranial pressure needs correction before the age of 18 months., Conclusions: This survey indicates several areas of cleft and craniofacial conditions that need prioritization, but also certain areas where intervention is less urgent. We acknowledge that there will be differences in the post COVID-19 response according to circumstances and policies in individual countries., Competing Interests: Disclosure: The authors have no financial interest to declare in relation to the content of this article., (Copyright © 2020 The Authors. Published by Wolters Kluwer Health, Inc. on behalf of The American Society of Plastic Surgeons.)

Background: Robin sequence (RS) is a congenital disorder characterized by cleft palate, micrognathia, and glossoptosis which can result in clinically significant upper airway obstruction (UAO). Historically, incidence of RS in the UK has been estimated as 1 in 8500 live births. Our study describes birth prevalence, clinical characteristics, and management of RS in the East of Scotland (EoS) region., Methods: Retrospective case note review of infants born in EoS from 2004 to 2013 with a clinical diagnosis of RS. Cases were identified by searching the regional cleft service patient database and review of Hospital Activity Statistics data. Regional live birth rate provided the denominator for incidence calculations., Results: A total of 105 cases of RS were identified, giving a birth prevalence of 1:2685 live births. No trends in annual incidence were observed over the 10-year period. Intrauterine exposure to potentially teratogenic agents was identified in 17% cases, including Methadone in 8% cases. Signs of UAO were present in 93% of infants, 63% of whom required active airway management. Nasopharyngeal airway (NPA) was the most commonly used intervention (53% cases), whilst only 7% required surgical management. Infants with an underlying syndrome or additional anomalies (RS+) were significantly more likely to be admitted to a tertiary center and require surgical airway or feeding support compared to those with isolated RS., Conclusions: RS incidence in EoS is substantially higher than that reported within other populations, and than previously reported in the UK. A possible association with intrauterine Methadone exposure warrants further investigation., (© 2018 Wiley Periodicals, Inc.)

Objective: Palatal lift appliances have a role in management of velopharyngeal dysfunction for immobile palates of adequate length where surgery is contraindicated. Conventional appliances involve acrylic/wire work adjustment over successive appointments until they can be tolerated without gagging. A novel appliance has been developed where the lifting plate is incrementally distalized by the patient and vertically adjusted to optimize soft palate positioning., Method: The design, construction, and utility of the appliance, which was developed in Dundee Dental Hospital, are described., Participants: The subject was a 12-year-old boy with a variant of Moebius syndrome and velopharyngeal dysfunction. Previous pharyngoplasty had been carried out and further surgery was contraindicated., Interventions: The appliance is constructed and fitted and the flexible spring arm is vertically adjusted to lift the soft palate. The screw is turned incrementally at home, extending the lifting plate posteriorly. Videofluoroscopy allows visualization of the appliance and soft palate positioning., Main Outcome Measures/results: The procedure improved soft palate positioning, as demonstrated by videofluoroscopy, and objective speech outcomes., Conclusions: The appliance was well tolerated and led to improved speech outcomes for the patient. Adjustments were quick and easy for both clinician and patient. Further studies are needed to definitively determine the efficacy of the appliance.

Pierre Robin sequence (PRS) is an aetiologically distinct subgroup of cleft palate. We aimed to define the critical genomic interval from five different 5q22-5q31 deletions associated with PRS or PRS-associated features and assess each gene within the region as a candidate for the PRS component of the phenotype. Clinical array-based comparative genome hybridisation (aCGH) data were used to define a 2.08 Mb minimum region of overlap among four de novo deletions and one mother-son inherited deletion associated with at least one component of PRS. Commonly associated anomalies were talipes equinovarus (TEV), finger contractures and crumpled ear helices. Expression analysis of the orthologous genes within the PRS critical region in embryonic mice showed that the strongest candidate genes were FBN2 and PHAX. Targeted aCGH of the critical region and sequencing of these genes in a cohort of 25 PRS patients revealed no plausible disease-causing mutations. In conclusion, deletion of ∼2 Mb on 5q23 region causes a clinically recognisable subtype of PRS. Haploinsufficiency for FBN2 accounts for the digital and auricular features. A possible critical region for TEV is distinct and telomeric to the PRS region. The molecular basis of PRS in these cases remains undetermined but haploinsufficiency for PHAX is a plausible mechanism., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

Heterozygous loss-of-function (LOF) mutations in the gene encoding the DNA-binding protein, SATB2, result in micrognathia and cleft palate in both humans and mice. In three unrelated individuals, we show that translocation breakpoints (BPs) up to 896 kb 3' of SATB2 polyadenylation site cause a phenotype which is indistinguishable from that caused by SATB2 LOF mutations. This syndrome comprises long nose, small mouth, micrognathia, cleft palate, arachnodactyly and intellectual disability. These BPs map to a gene desert between PLCL1 and SATB2. We identified three putative cis-regulatory elements (CRE1-3) using a comparative genomic approach each of which would be placed in trans relative to SATB2 by all three BPs. CRE1-3 each bind p300 and mono-methylated H3K4 consistent with enhancer function. In silico analysis suggested that CRE1-3 contain one or more conserved SOX9-binding sites, and this binding was confirmed using chromatin immunoprecipitation on cells derived from mouse embryonic pharyngeal arch. Interphase bacterial artificial chromosome fluorescence in situ hybridization measurements in embryonic craniofacial tissues showed that the orthologous region in mice exhibits Satb2 expression-dependent chromatin decondensation consistent with Satb2 being a target gene of CRE1-3. To assess their in vivo function, we made multiple stable reporter transgenic lines for each enhancer in zebrafish. CRE2 was shown to drive SATB2-like expression in the embryonic craniofacial region. This expression could be eliminated by mutating the SOX9-binding site of CRE2. These observations suggest that SATB2 and SOX9 may be acting together via complex cis-regulation to coordinate the growth of the developing jaw.

Objective: We present two infants with holoprosencephaly and clefts of the primary palate, who developed nasal airway obstruction due to a previously undocumented cause: a ball-valve-like action of a rudimentary premaxilla, which was extremely mobile on a soft tissue stalk. In such patients, the importance of intranasal examination to identify a rudimentary premaxilla, in order to preserve it, and if necessary, surgically stabilize it, is illustrated.

A number of modifications of the tongue blade of the Dott mouth gag for cleft palate surgery are described and illustrated. These modifications facilitate cleft palate surgery, especially on small infants and patients with micrognathia, as well as surgery under the microscope and also reduce the risk of compression of the endotracheal tube., (Copyright 2000 The British Association of Plastic Surgeons.)