The governance of overseas surgical collaborations - BFIRST/BSSH.

Clinical governance is the structured approach to maintaining and improving the quality of patient care and is a vital part of global surgery. BFIRST and BSSH closely collaborate with local doctors on a number of overseas projects, seeking to strengthen and develop local knowledge and skills, aiming for an independent local practice in reconstructive and upper limb surgery. Thoughts on essential requirements, improvements and pitfalls in the ethical approach to global collaboratives are presented.

Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.

This study investigated the genetic basis of an unusual autosomal dominant phenotype characterized by familial absent uvula, with a short posterior border of the soft palate, abnormal tonsillar pillars, and velopharyngeal insufficiency. Cytogenetic analysis and single-nucleotide polymorphism-based linkage analysis were investigated in a 4-generation family with 8 affected individuals. Whole exome sequencing data were overlaid, and segregation analysis identified a single missense variant, p.Q433P in the FOXF2 transcription factor, that fully segregated with the phenotype. This was found to be in linkage disequilibrium with a small 6p25.3 tandem duplication affecting FOXC1 and GMDS. Notably, the copy number imbalances of this region are commonly associated with pathologies that are not present in this family. Bioinformatic predictions with luciferase reporter studies of the FOXF2 missense variant indicated a negative impact, affecting both protein stability and transcriptional activation. Foxf 2 is expressed in the posterior mouse palate, and knockout animals develop an overt cleft palate. Since mice naturally lack the structural equivalent of the uvula, we demonstrated FOXF2 expression in the developing human uvula. Decipher also records 2 individuals with hypoplastic or bifid uvulae with copy number variants affecting FOXF2. Nevertheless, given cosegregation with the 6p25.3 duplications, we cannot rule out a combined effect of these gains and the missense variant on FOXF2 function, which may account for the rare palate phenotype observed.

Palate lengthening by buccinator myomucosal flaps for velopharyngeal insufficiency.

OBJECTIVE : To assess the outcome of palate lengthening by myomucosal buccinator flaps for velopharyngeal insufficiency both in terms of speech and changes in palate length. DESIGN : Thirty-two consecutive patients who underwent the buccinator flap procedure were reviewed retrospectively. Palate length and the presence or absence of a velopharyngeal gap were assessed on pre- and postoperative videofluoroscopic recordings using a calibrated image analysis system. Hypernasality, nasal emission, nasal turbulence, and passive cleft type articulation errors were evaluated blindly by a speech-language pathologist external to the team using pre- and postoperative speech recordings. SETTING : Multidisciplinary cleft team based in a tertiary referral center. Results : In 81% of patients, speech outcome was such that no further velopharyngeal surgery was considered necessary at the time of follow-up. The buccinator flap procedure resulted in a mean palate lengthening of 7.5 mm (±5.5 SD). After the operation, there was a complete elimination of the velopharyngeal gap on lateral videofluoroscopy in 77% of patients. There were significant decreases in hypernasality ratings and passive cleft type articulation errors postoperatively. CONCLUSION: Palatal lengthening with myomucosal buccinator flaps in patients with velopharyngeal insufficiency is effective and safe. It has become one of our routinely practiced procedures for velopharyngeal insufficiency.

Increasing accuracy of antenatal ultrasound diagnosis of cleft lip with or without cleft palate, in cases referred to the North Thames London Region.

OBJECTIVES: To determine the accuracy of antenatal ultrasound diagnosis of cleft lip with or without cleft palate (CL +/- P) and isolated cleft palate (CP). METHODS: This was a retrospective review of 256 surviving cases referred in 2002-2003 for treatment of CL +/- P. RESULTS: We had referrals from 36 maternity units, 27 of which were in our local catchment area. There were 154 cases of CL +/- P, of which five had microform CL. Of the remaining 149, 88 (59%) were diagnosed on antenatal ultrasound examination. Among these 88 cases there were minor reporting errors in 22 (25%). These errors were in describing the side and type of the lip cleft in 10 cases, predicting if there was a CP in 10 cases, and recognizing the anomaly in two cases. There were 102 cases referred with isolated CP, of which 92 had overt CP and 10 submucous CP. None of these was diagnosed by antenatal ultrasound imaging. There was no significant difference in the accuracy of ultrasound diagnosis between district hospitals and teaching/tertiary units. CONCLUSIONS: There is a good awareness and ability to detect CL +/- P by obstetric units from which referrals are received. Inaccuracies in antenatal ultrasound reports occur frequently when attempting to determine the type of CL and when predicting if there is a CP. We recommend that families should continue to be referred to specialist centers for counseling immediately after antenatal diagnosis, and comprehensive advice should always be given about clefts of the lip and palate.

Atypical congenital dermoids of the face: a 25-year experience.

OBJECTIVE: To review the presentation and management of nasal and other facial dermoid cysts and sinuses (excluding external angular dermoids). We report on 28 patients with less common facial dermoids. They presented as a cyst, sinus or both and may be separated into four groups. Group 1 (18 cases) were in the midline on the nose and many (12) had extensions to the septum but only two to the skull base. Group 2 (two cases) were paramedian nasal lesions and one extended through the nasal bones. Group 3 were lesions around the medial orbital wall, and two of these had tracts extending into the orbit. Group 4 were a miscellaneous group of lesions on the cheek and lips. We observed that preoperative imaging, although useful and done mainly for medico-legal reasons, may not detect deep extensions and therefore surgeons should be prepared for a more involved procedure when removing atypical facial dermoids.

The nature of feeding in infants with unrepaired cleft lip and/or palate compared with healthy noncleft infants.

OBJECTIVE: Feeding difficulties are reported widely in infants with cleft lip and/ or palate. There is, however, a paucity of objective information about the feeding patterns of these infants. This study compared patterns of feeding in infants with unrepaired cleft lip and palate with healthy noncleft infants of a similar age. SETTING: North Thames Regional Cleft Centre. The noncleft cohort was recruited from West Middlesex University Hospital, a general hospital with similar demographics. PARTICIPANTS: Fifty newborn infants with nonsyndromic complete unilateral cleft lip and palate or a cleft of the soft and at least two thirds of the hard palate who were referred to the North Thames Regional Cleft Centre participated. Parents of 20 randomly selected, noncleft infants agreed to participate. MAIN OUTCOME MEASURES: Feeding patterns were rated using the Neonatal Oral Motor Assessment Scale. Additional objective information was collected using the Great Ormond Street Measurement of Infant Feeding (Masarei et al., 2001; Masarei, 2003). RESULTS: Infants with nonsyndromic complete unilateral cleft lip and palate or a cleft of the soft and at least two thirds of the hard palate had less efficient sucking patterns than their noncleft peers had. They used shorter sucks (mean difference, 0.30 second; p < .0005), a faster rate of sucking (mean difference, 34.20 sucks/second; p < .0005), higher suck-swallow ratios (mean difference, 1.87 sucks/swallow; p < .0005), and a greater proportion of intraoral positive pressure generation (mean difference, 45.97% positive pressure; p < .0005). CONCLUSIONS: This study demonstrated that the sucking patterns of infants with nonsyndromic complete unilateral cleft lip and palate or a cleft of the soft and at least two thirds of the hard palate differ from those of their noncleft peers.

A randomized control trial investigating the effect of presurgical orthopedics on feeding in infants with cleft lip and/or palate.

OBJECTIVE: To investigate the controversial assertion that presurgical orthopedics (PSO) facilitate feeding in infants with cleft lip and palate. DESIGN: Randomized control trial of 34 infants with nonsyndromic complete unilateral cleft lip and palate and 16 with cleft of the soft and at least two thirds of the hard palate. Allocation to receive presurgical orthopedics or not used minimization for parity and gender. Other aspects of care were standardized. SETTING: The North Thames Regional Cleft Centre. MAIN OUTCOME MEASURES: Measurements were made at 3 months of age (presurgery) and at 12 months of age (postsurgery). Primary outcomes were anthropometry and oral motor skills. Objective measures of sucking also were collected at 3 months using the Great Ormond Street Measure of Infant Feeding. Twenty-one infants also had videofluoroscopic assessment. RESULTS: At 1 year, all infants had normal oral motor skills and no clear pattern of anthropometric differences emerged. For both cleft groups, infants randomized to presurgical orthopedics were, on average, shorter. The presurgical orthopedics infants were, on average, lighter in the unilateral cleft and lip palate group, but heavier in the isolated cleft palate group. Infants with complete unilateral cleft and lip palate randomized to presurgical orthopedics had lower average body mass index (mean difference PSO-No PSO: -0.45 (95% confidence interval [-1.78, 0.88]), this trend was reversed among infants with isolated cleft palates (mean difference PSO-No PSO: 1.98 [-0.95, 4.91]). None of the differences were statistically significant at either age. CONCLUSIONS: Presurgical orthopedics did not improve feeding efficiency or general body growth within the first year in either group of infants.

Delayed detection of cleft palate: an audit of newborn examination.

AIMS: To identify prevalence of delayed detection of cleft palate, and associated factors that could lead to improved identification at neonatal clinical examination. METHODS: Audit of hospital notes, parental questionnaire incorporating open ended questions, and telephone questionnaire of junior doctors in the referring hospitals incorporating fixed choice questions. RESULTS: Of 344 cleft palate patients without cleft lip or submucous cleft palate, the day the cleft was detected was recorded in 92%. Delayed detection, after the first day, was 28% overall, distributed as 37% with isolated cleft palate and 23% with syndromic cleft palate. Narrow V shaped clefts were more likely to be delayed in detection compared with broad U shaped clefts, as were soft palate clefts compared with hard palate clefts. Five with isolated cleft palates were not detected until after the first year. Babies born at home were unlikely to be detected on day 1. Symptoms were significantly increased in the delayed detection group for feeding problems and nasal regurgitation. A telephone questionnaire of trainee paediatricians in referring units revealed that digital examination was more commonly practised than visual inspection, and few recalled receiving specific instruction on examination of the palate. CONCLUSION: Delayed detection of cleft palate was not uncommon, and the features of those more likely to be missed suggested digital examination was related. Trainee doctors and midwives should be instructed to inspect visually using a light and tongue depressor, then digitally if submucous cleft palate is suspected.

Surgery of the cleft lip and nose--the GOStA approach.

The technique for primary correction of the cleft lip and nose, as practised by The North Thames Cleft Lip and Palate Centre at Great Ormond Street Hospital/St Andrew's Centre (GOStA) has evolved over 28 years of personal experience. It is an amalgamation of techniques developed by many others with some personal modifications. Patients are routinely audited at 5, 10, 15 and 20 years and outcomes evaluated and compared with other centres where possible. Secondary surgery of lip and nose is based on the same principles of anatomical reconstruction used in the primary surgery.

Surgery of the cleft palate: repair using the operating microscope with radical muscle retropositioning--the GostA approach.

The aim of cleft palate surgery is to minimise damage which results in impaired maxillary growth, and to maximise outcome in terms of velopharyngeal function. Techniques developed by the author, building on work by many and employed by the North Thames Cleft Lip and Palate Centre at Great Ormond Street Hospital/St Andrew's Centre (GOStA) appears to offer one way of achieving these aims. However, the learning curve is long.

Velopharyngeal insufficiency following adenoidectomy.

Velopharyngeal insufficiency (VPI) is a well recognized but rare complication of adenoidectomy. Twenty children with this condition were seen and assessed at Great Ormond Street Hospital between 1993 and 2000. The commonest aetiology was occult submucous cleft palate (n = 5) but there was a wide range of other causes. Two children with severe behavioural disorders and normal palates developed mild symptoms, an aetiology not previously reported. Only two children had a classical submucous cleft palate. Nine children required surgical intervention and three revision procedures. Of the 15 treated children for whom follow-up data was available, 13 regained normal or near-normal speech. Many cases of postadenoidectomy VPI was not foreseeable. Following referral to a specialist cleft unit, normal or near-normal speech can be achieved in the majority with a combination of surgery and speech therapy.

Evaluation of hearing thresholds in 3-month-old children with a cleft palate: the basis for a selective policy for ventilation tube insertion at time of palate repair.

Hearing thresholds in children with a cleft palate prior to cleft palate repair are not widely documented, and audiological criteria for short-term ventilation tube insertion do not exist. The aims of this prospective study are to estimate hearing thresholds in 40 children with a cleft palate by 3-month developmental age with auditory brainstem responses (ABRs) under natural sleep and to estimate a hearing threshold guideline for short-term ventilation tube insertion. Our results show a wide range of air conduction hearing thresholds using click ABRs (2-4 Hz), which ranged from 25 to 102 dBnHL in the left ear and from 25 to 80 dBnHL in the right ear with means of 53 and 49 and standard deviations of 17 and 13 respectively. The bone conduction thresholds ranged from 0 to 55 dBnHL with a mean of 26 and a standard deviation of 13. Eighty-three per cent of children had flat, type B, on high-frequency tympanograms, indicative of middle ear effusion. Thirty per cent of the infants had a cleft palate associated with a known syndrome. Currently, it is the authors' practice to use short-term ventilation tubes on a selective basis at the time of cleft palate repair when there is a conductive hearing loss of more than 55 dBnHL in the better ear as determined by ABR with type B high-frequency tympanograms. This threshold level takes into account electrophysiological and auditory pathway maturation discrepancies. With this as the guideline, between 28% and 35% of the children in this study would be eligible for surgery. This criterion still requires further validation.

The relationship between arch dimensions and the 5-year index in the primary dentition of patients with complete UCLP.

OBJECTIVE: To compare dental arch dimensions of children in the primary dentition with repaired unilateral clefts of the lip and palate (UCLP) to a noncleft group of a similar age and determine how the dimensions of the cleft arches relate to an index of treatment outcome. METHOD: Dental study casts of 44 5- to 6-year-olds with complete UCLP (22 boys and 22 girls) from a single center, whose primary surgery had been carried out by one surgeon, were matched for age, sex, and ethnicity with dental study casts from a longitudinal growth study. Analysis of variance was used to ascertain differences in arch dimensions between the two groups. The cleft group casts were then assessed with an established index of surgical outcome, the 5-year-old index. Spearman's rank correlation coefficient was used to see how the arch dimensions of the cleft group related to the categories of the index. RESULTS AND CONCLUSIONS: Maxillary arch dimensions were significantly smaller in the cleft group than in the noncleft group, irrespective of sex (p < .05). In the mandibular arch, there was no difference between the cleft and noncleft groups (p > .05). Maxillary arch dimensions of the cleft group correlated significantly with the 5-year-old index for arch length and intercanine width (p < .05) but not intermolar width (p = .842). This would suggest that the 5-year-old index is a suitable tool for assessing the outcome of treatment in the primary dentition for anteroposterior and anterior transverse arch dimensions.

Airway obstruction due to a rudimentary premaxilla in holoprosencephaly.

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.

Are we ready to predict speech development from babble in cleft lip and palate children?

The speech development of nine children with cleft lip/palate was followed longitudinally from nine months to three years of age. The results indicate speech sound development closer to the non-cleft population than previous studies. Nasal fricatives previously not extensively described in the literature may be an experimental stage of developmental babble, which spontaneously reduce. The study has added to the evidence-base for practice in one cleft unit. It may be useful to channel resources at our centre to children who at nine months may be more at risk, i.e. children with bilateral clefts and known developmental delay.