Epidemiology of Robin sequence in the UK and Ireland: an active surveillance study.

BACKGROUND: Birth prevalence of Robin sequence (RS) is commonly reported as 1 case per 8000-14 000 live births. These estimates are based on single-source case ascertainment and may miss infants who did not require hospital admission or those without overt upper airway obstruction at birth. OBJECTIVES: To identify the true birth prevalence of RS with cleft palate in the UK and Ireland from a population-based birth cohort with high case ascertainment. METHODS: Active surveillance of RS with cleft palate was carried out in the UK/Ireland using dual sources of case ascertainment: British Paediatric Surveillance Unit (BPSU) reporting card and nationally commissioned cleft services. Clinical data were collected from notifying clinicians at two time points. RESULTS: 173 live-born infants met the surveillance case definition, giving a birth prevalence of 1 case per 5250 live births (19.1 per 100 000 (95% CI 16.2 to 21.9)), and 1:2690 in Scotland. 47% had non-isolated RS, with Stickler syndrome the most common genetic diagnosis (12% RS cases). Birth prevalence derived from the combined data sources was significantly higher than from BPSU surveillance alone. CONCLUSIONS: Birth prevalence of RS in the UK/Ireland derived from active surveillance is higher than reported by epidemiological studies from several other countries, and from UK-based anomaly registries, but consistent with published retrospective data from Scotland. Dual case ascertainment sources enabled identification of cases with mild or late-onset airway obstruction that were managed without hospital admission. Studies of aetiology and equivalent well-designed epidemiological studies from other populations are needed to investigate the identified geographical variability in birth prevalence.

Evaluating the Impact on Clinical Task Efficiency of a Natural Language Processing Algorithm for Searching Medical Documents: Prospective Crossover Study.

BACKGROUND: Information retrieval (IR) from the free text within electronic health records (EHRs) is time consuming and complex. We hypothesize that natural language processing (NLP)-enhanced search functionality for EHRs can make clinical workflows more efficient and reduce cognitive load for clinicians. OBJECTIVE: This study aimed to evaluate the efficacy of 3 levels of search functionality (no search, string search, and NLP-enhanced search) in supporting IR for clinical users from the free text of EHR documents in a simulated clinical environment. METHODS: A clinical environment was simulated by uploading 3 sets of patient notes into an EHR research software application and presenting these alongside 3 corresponding IR tasks. Tasks contained a mixture of multiple-choice and free-text questions. A prospective crossover study design was used, for which 3 groups of evaluators were recruited, which comprised doctors (n=19) and medical students (n=16). Evaluators performed the 3 tasks using each of the search functionalities in an order in accordance with their randomly assigned group. The speed and accuracy of task completion were measured and analyzed, and user perceptions of NLP-enhanced search were reviewed in a feedback survey. RESULTS: NLP-enhanced search facilitated more accurate task completion than both string search (5.14%; P=.02) and no search (5.13%; P=.08). NLP-enhanced search and string search facilitated similar task speeds, both showing an increase in speed compared to the no search function, by 11.5% (P=.008) and 16.0% (P=.007) respectively. Overall, 93% of evaluators agreed that NLP-enhanced search would make clinical workflows more efficient than string search, with qualitative feedback reporting that NLP-enhanced search reduced cognitive load. CONCLUSIONS: To the best of our knowledge, this study is the largest evaluation to date of different search functionalities for supporting target clinical users in realistic clinical workflows, with a 3-way prospective crossover study design. NLP-enhanced search improved both accuracy and speed of clinical EHR IR tasks compared to browsing clinical notes without search. NLP-enhanced search improved accuracy and reduced the number of searches required for clinical EHR IR tasks compared to direct search term matching.

Face Coverings, Aerosol Dispersion and Mitigation of Virus Transmission Risk.

The SARS-CoV-2 virus is primarily transmitted through virus-laden fluid particles ejected from the mouth of infected people. Face covers can mitigate the risk of virus transmission but their outward effectiveness is not fully ascertained. Objective: by using a background oriented schlieren technique, we aim to investigate the air flow ejected by a person while quietly and heavily breathing, while coughing, and with different face covers. Results: we found that all face covers without an outlet valve reduce the front flow through by at least 63% and perhaps as high as 86% if the unfiltered cough jet distance was resolved to the anticipated maximum distance of 2-3 m. However, surgical and handmade masks, and face shields, generate significant leakage jets that may present major hazards. Conclusions: the effectiveness of the masks should mostly be considered based on the generation of secondary jets rather than on the ability to mitigate the front throughflow.

Longitudinal 3D Assessment of Facial Asymmetry in Unilateral Cleft Lip and Palate.

OBJECTIVE: Longitudinal evaluation of asymmetry of the surgically managed unilateral cleft lip and palate (UCLP) to assess the impact of facial growth on facial appearance. DESIGN: Prospective study. SETTING: Glasgow Dental Hospital and School, University of Glasgow, United Kingdom. PATIENTS: Fifteen UCLP infants. METHOD: The 3-D facial images were captured before surgery, 4 months after surgery, and at 4-year follow-up using stereophotogrammetry. A generic mesh which is a mathematical facial mask that consists of thousands of points (vertices) was conformed on the generated 3-D images. Using Procustean analysis, an average facial mesh was obtained for each age-group. A mirror image of each average mesh was mathematically obtained for the analysis of facial dysmorphology. Facial asymmetry was assessed by measuring the distances between the corresponding vertices of the original and the mirror copy of the conformed meshes, and this was displayed in color-coded map. RESULTS: There was a clear improvement in the facial asymmetry following the primary repair of cleft lip. Residual asymmetry was detected around the nasolabial region. The nasolabial region was the most asymmetrical region of the face; the philtrum, columella, and the vermillion border of the upper lip showed the maximum asymmetry which was more than 5 mm. Facial growth accentuated the underlying facial asymmetry in 3 directions; the philtrum of the upper lip was deviated toward the scar tissue on the cleft side. The asymmetry of the nose was significantly worse at 4-year follow-up ( P < .05). CONCLUSION: The residual asymmetry following the surgical repair of UCLP was more pronounced at 4 years following surgery. The conformed facial mesh provided a reliable and innovative tool for the comprehensive analysis of facial morphology in UCLP. The study highlights the need of refining the primary repair of the cleft and the potential necessity for further corrective surgery.

Assessment of regional asymmetry of the face before and after surgical correction of unilateral cleft lip.

This study was carried out on 26 unilateral cleft lip and palate (UCLP) cases with mean age 3.6 ± 0.7 months.3D facial images were captured for each infant 2-3 days before the repair of cleft lip and at 4 months following surgery at a mean age of 8.2 ± 1.8 months, using a stereophotogrammetry imaging system. An iterative closest point (ICP) algorithm was used to superimpose the 3D facial model to its mirror image using VRMesh software. After the superimposition, the face model was divided into seven anatomical regions. Asymmetry of the entire face and of the anatomical regions was calculated by measuring the absolute distances between the 3D facial surface model and its mirror image. Colour maps were used to illustrate the patterns and magnitude of the facial asymmetry before and after surgery. There were significant decreases in the asymmetry scores for the nose, upper lip and the cheeks as a result of the surgical repair of cleft lips. Surgery did not change the magnitude of the asymmetry scores for the lower lip and chin. Residual nasolabial asymmetries were detected. The main outcome of the findings of this innovative study is to inform the required surgical refinement of primary repair of cleft lip in order to minimise facial asymmetry. We have presented a sensitive tool that could be used for comparative analysis of lip repair at various cleft centres and to guide secondary corrective surgery when required.

Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report.

IMPORTANCE: Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction. Currently, no consensus exists regarding the diagnosis and evaluation of children with RS. An international, multidisciplinary consensus group was formed to begin to overcome this limitation. OBJECTIVE: To report a consensus-derived set of best practices for the diagnosis and evaluation of infants with RS as a starting point for defining standards and management. EVIDENCE REVIEW: Based on a literature review and expert opinion, a clinical consensus report was generated. FINDINGS: Because RS can occur as an isolated condition or as part of a syndrome or multiple-anomaly disorder, the diagnostic process for each newborn may differ. Micrognathia is hypothesized as the initiating event, but the diagnosis of micrognathia is subjective. Glossoptosis and upper airway compromise complete the primary characteristics of RS. It can be difficult to judge the severity of tongue base airway obstruction, and the possibility of multilevel obstruction exists. The initial assessment of the clinical features and severity of respiratory distress is important and has practical implications. Signs of upper airway obstruction can be intermittent and are more likely to be present when the infant is asleep. Therefore, sleep studies are recommended. Feeding problems are common and may be exacerbated by the presence of a cleft palate. The clinical features and their severity can vary widely and ultimately dictate the required investigations and treatments. CONCLUSIONS AND RELEVANCE: Agreed-on recommendations for the initial evaluation of RS and clinical descriptors are provided in this consensus report. Researchers and clinicians will ideally use uniform definitions and comparable assessments. Prospective studies and the standard application of validated assessments are needed to build an evidence base guiding standards of care for infants and children with RS.

Effect of palate re-repairs and hynes pharyngoplasties on pediatric airways: an analysis of preoperative and postoperative cardiorespiratory sleep studies.

OBJECTIVES : To determine whether Sommerlad palate re-repairs and Hynes pharyngoplasties cause obstructive sleep apnea/hypopnea or increased upper airway resistance. DESIGN : Prospective before-and-after study. SETTING : Tertiary cleft unit. PATIENTS : A total of 44 patients undergoing a Sommerlad palate re-repair or a Hynes pharyngoplasty. Interventions : Preoperative and postoperative multichannel cardiorespiratory sleep studies. MAIN OUTCOME MEASURES : The main outcome measures were mean arterial oxygen saturation, desaturation index, percentage of time spent with arterial oxygen saturation <90%, mean pulse rate, number of pulse rate rises (arousals) per hour, inspiratory effort derived from pulse transit time, pulse transit time arousals, and snoring. RESULTS : No patient in either group required intervention for airway obstruction or obstructive sleep apnea/hypopnea. Re-repairs caused no significant change in any parameter. Hynes caused an increase in inspiratory effort (P = .04) and obstructive sleep apnea/hypopnea grading (P = .002). All other parameters showed no significant deterioration. No patient developed more than mild/moderate obstructive sleep apnea/hypopnea. Snoring and arterial oxygen saturation levels were not reliable indicators of increased inspiratory effort. CONCLUSIONS : A palate re-repair had no significant adverse effect on the airway. A Hynes, in patients with optimized velar function, caused a significant increase in inspiratory effort and obstructive sleep apnea/hypopnea grade. However, compared with studies on midline flaps and on sphincter pharyngoplasties, a Hynes appears to be less obstructive. Failure to study changes in inspiratory effort in patients undergoing velopharyngeal incompetence surgery may underestimate the obstructive effect of pharyngoplasties.

Surgical anatomy of the levator veli palatini: a previously undescribed tendinous insertion of the anterolateral fibers.

The purpose of this study was to describe the previously unreported tendinous insertion of the anterolateral fibers of the levator veli palatini (levator) and discuss possible implications for levator function and cleft palate repair. The velopharyngeal anatomy in normal adult cadavers was studied, with histologic confirmation of anatomical findings. These findings were compared with a more limited study of levator anatomy in cleft palates at the time of intraoperative muscle dissection. Just before entering the velum, the levator divides into two parts. The smaller bundle of muscle fibers (anterolateral part) runs anteriorly, close to the lateral pharyngeal wall, and inserts into the palatine aponeurosis through a number of fine tendons. The main part of the muscle runs medially into the velum, where it fans out and forms the levator sling with the contralateral levator. The possible function of the anterolateral part of the levator is discussed. Inadequate release of the tendinous insertions at the time of palate repair may tether the levator anteriorly and compromise muscle retropositioning or may result in splitting of the levator, so that only part of the levator is retropositioned.

Surgical significance of abnormal internal carotid arteries in velocardiofacial syndrome in 43 consecutive hynes pharyngoplasties.

OBJECTIVES: To determine: (1) the incidence of surgically significant, abnormal internal carotid arteries (ICAs) in velocardiofacial syndrome (VCFS); (2) the implications for a Hynes pharyngoplasty; (3) the reliability of preoperative investigations in detecting surgically significant abnormal ICAs. DESIGN: Prospective data collection with blind reassessment of nasendoscopy recordings. SETTING: Two-site, tertiary referral cleft unit. PATIENTS: Forty-three consecutive patients with VCFS who underwent a Hynes pharyngoplasty (six had a subsequent revision). INTERVENTIONS: Intraoral examinations, lateral videofluoroscopy, nasendoscopy when possible, and intraoperative palpation of the posterolateral pharyngeal walls. Only one patient had a magnetic resonance angiography (MRA). MAIN OUTCOME MEASURES: Incidence of surgically significant pulsations; modifications to surgical procedure; and correlation of surgical findings with preoperative nasendoscopy and MRA. RESULTS: Five patients (11.6%) had abnormal pulsations noted at the time of the Hynes. In no patient was the decision to perform a Hynes altered as a result of abnormal pulsations. Two patients had minor adjustments to the Hynes flaps to avoid exposing/damaging the ICA. In one patient an abnormal ICA was exposed during elevation of the left Hynes flap. This was covered uneventfully by routine closure of the secondary defect. Pulsations were noted in only 3 of 24 assessable preoperative nasendoscopies. CONCLUSIONS: A Hynes pharyngoplasty is not contraindicated in VCFS, even if abnormal pulsations are present. Examination and palpation of the pharyngeal walls after the patient is positioned for surgery appear to be reliable in detecting abnormal pulsations and allow accurate surgical planning. Routine vascular imaging, even in patients with pulsations on preoperative nasendoscopy is not essential and may not always be reliable, as shown by the variation in endoscopic, MRA, and intraoperative findings. This further re-emphasizes the importance of palpating the pharyngeal walls once the patient is positioned for surgery.

Surgical management of velopharyngeal incompetence in velocardiofacial syndrome.

OBJECTIVES: To analyze the results of surgery for velopharyngeal incompetence (VPI) in velocardiofacial syndrome. DESIGN: Prospective data collection, with randomized, blind assessment of speech and velopharyngeal function on lateral videofluoroscopy and nasendoscopy. SETTING: Two-site, tertiary referral cleft unit. PATIENTS: Forty-two consecutive patients with the 22q11 deletion underwent surgery for symptomatic VPI by a single surgeon. INTERVENTIONS: Intraoral examinations, lateral videofluoroscopy (+/- nasendoscopy) and intraoperative evaluation of the position of the velar muscles through the operating microscope. Based on these findings, either a radical dissection and retropositioning of the velar muscles (submucous cleft palate [SMCP repair]) or a Hynes pharyngoplasty (posterior pharyngeal wall augmentation pharyngoplasty) was performed. As anticipated, a proportion of patients undergoing SMCP repair subsequently required a Hynes. The aim of this staged approach was to maximize velar function, thereby enabling a less obstructive pharyngoplasty to be performed. Thus, there were three surgical groups for analysis: SMCP alone, Hynes alone, and SMCP+Hynes. MAIN OUTCOME MEASURES: Blind perceptual rating of resonance and nasal airflow; blind assessment of velopharyngeal function on lateral videofluoroscopy and nasendoscopy; and identification of predictive factors. RESULTS: Significant improvement in hypernasality in all three groups. The SMCP+Hynes group also showed significant improvement in nasal emission. There were significant improvements in the extended and resting velar lengths following SMCP repair and a trend toward increased velocity of closure. CONCLUSIONS: Depending on velopharyngeal anatomy and function, there is a role for SMCP repair, Hynes pharyngoplasty, and a staged combination of SMCP+Hynes, all of which are procedures with a low morbidity.

Unilateral Moore pharyngoplasty in the treatment of unilateral or asymmetric velopharyngeal incompetence.

OBJECTIVE: To describe the use of a unilateral modification of the Moore pharyngoplasty in the treatment of unilateral or asymmetric velopharyngeal incompetence (VPI) and analyze the results in a consecutive series of patients operated on by a single surgeon. DESIGN: Blind assessment of randomized speech and nasendoscopy recordings. SETTING: A two-site tertiary referral cleft unit. PATIENTS: Eighteen consecutive patients with asymmetrical or unilateral VPI of varying etiology. INTERVENTIONS: A unilateral Moore pharyngoplasty was performed in all patients. Three patients underwent radical dissection and retropositioning of the velar muscles at the same time as the unilateral Moore pharyngoplasty. MAIN OUTCOME MEASURES: Pre- and postoperative nasality and nasal airflow using the CAPS score, assessment of nasendoscopy recordings, and the rate of further surgery. RESULTS: There was a significant improvement in hypernasality (p =.014). There was a highly significant decrease in the size of the velopharyngeal gap on the side on which the Moore pharyngoplasty was performed (p =.004) as well as a highly significant decrease in the total gap size (p =.003). The Moore flap was effective in obliterating the lateral pharyngeal recess in 11 of 12 patients (p =.004). Three patients required further velopharyngeal surgery. CONCLUSIONS: In appropriately selected patients, a unilateral Moore pharyngoplasty is a safe and effective treatment for unilateral or asymmetric VPI. If indicated, a radical dissection and retropositioning of the velar muscles may be combined with a Moore pharyngoplasty.

Submucous cleft palates presenting with a perforation.

OBJECTIVE: The development of a perforation in a submucous cleft palate (SMCP) is a rare occurrence, with only a few cases reported in the literature. We describe and illustrate four cases of SMCPs with a perforation in the palate. RESULTS AND CONCLUSIONS: Recognition of the symptoms and signs of an SMCP should enable early diagnosis and treatment of this condition in symptomatic patients. However, in patients in whom the diagnosis has been missed or in those who have been asymptomatic, the development of a perforation may be the presenting feature of an SMCP. A history of possible trauma to the palate was found in two cases. Relatively minor trauma may cause perforation of the thin translucent central mucosa in an SMCP. In neonates, perforations surrounded by very thin mucosa may increase in size. The perforation can be closed at the same time as the SMCP repair and does not significantly alter the surgical treatment of an SMCP.

Gross unilateral abnormalities of the velum and pharynx.

OBJECTIVE: Velopharyngeal incompetence because of gross unilateral velopharyngeal hypoplasia is rare, particularly in patients with no significant hemifacial microsomia or facial asymmetry. We describe the abnormal anatomy and treatment of three patients with gross congenital velopharyngeal asymmetry. RESULTS AND CONCLUSIONS: Following surgery, all three patients showed a good improvement in velopharyngeal function and speech. Nasendoscopy and lateral videofluoroscopy were important in confirming the abnormal anatomy and pathology and in evaluating the degree of movement of the affected side of the velum and pharyngeal walls as well as the size and location of the defect. Muscles from the normal side were radically dissected and mobilized across the midline to reconstruct the hypoplastic hemivelum. Mucosal lengthening was achieved by suturing the normal mucosa to the mucosa of the hypoplastic hemivelum and the lateral pharyngeal wall or by insetting a posterolateral pharyngeal flap (modified Moore pharyngoplasty) into the nasal surface of the hypoplastic side.

Palate re-repair revisited.

OBJECTIVE: To analyze the results of a consecutive series of palate re-repairs performed using the operating microscope and identify predictive factors for outcome. DESIGN: Prospective data collection, with blind assessment of randomized recordings of speech and velar function on lateral videofluoroscopy and nasendoscopy. PATIENTS: One hundred twenty-nine consecutive patients with previously repaired cleft palates and symptomatic velopharyngeal incompetence (VPI) and evidence of anterior insertion of the levator veli palatini underwent palate re-repairs by a single surgeon from 1992 to 1998. Syndromic patients, those who had significant additional surgical procedures at the time of re-repair (23 patients), and all patients with inadequate pre- or postoperative speech recordings were excluded, leaving a total of 85 patients in the study. INTERVENTIONS: Palate re-repairs, with radical dissection and retropositioning of the velar muscles, were performed using the operating microscope with intraoperative grading of anatomical and surgical findings. MAIN OUTCOME MEASURES: Pre- and postoperative perceptual speech assessments using the Cleft Audit Protocol for Speech (CAPS) score, measurement of velar function on lateral videofluoroscopy, and assessment of nasendoscopy recordings. RESULTS: There were significant improvements in hypernasality, nasal emission, and nasal turbulence and measures of velar function on lateral videofluoroscopy, with improvement in the closure ratio, velopharyngeal gap at closure, velar excursion, velar movement angle, and velar velocity. CONCLUSIONS: Palate re-repair has been shown to be effective in treating VPI following cleft palate repair, both in patients who have not had an intravelar veloplasty and those who have had a previous attempt at muscle dissection and retropositioning. Palate re-repair has a lower morbidity and is more physiological than a pharyngoplasty or pharyngeal flap.