"It's On Your Shoulders Now" Transitioning from Child-to-Adult UK Cleft Lip/Palate Services: An Exploration of Young Adults' Narratives.

OBJECTIVES: Treatment for cleft lip and/or palate (CL/P) in the United Kingdom is administered on a standardised pathway from diagnosis to early adulthood, with options to be re-referred in later life. At age 16, patients become responsible for their treatment decisions. Evidence from the wider health literature indicates this transition can be challenging and that this population may require additional support. The present study explored young people's experiences of transition to adult care in the context of CL/P services, with the aim of identifying support needs and informing future service delivery. DESIGN: Individual semi-structured interviews were conducted with 15 individuals with CL/P (aged 17-25 years) to explore transition experiences. Interviews lasted an average of 69 min and data were analysed using reflexive thematic analysis. RESULTS: Four themes, with subthemes, were identified: 1) Readiness for Transition covered feelings of preparedness and how health professionals approached transition; 2) Making Decisions as an Adult described concerns and considerations when making treatment decisions; 3) Finding and Using Support, reflected the roles of caregivers and peers in developing self-advocacy; and 4) Reflections on Transition Care offered insight into how care could be improved. CONCLUSION: Individuals born with CL/P may experience challenges in becoming responsible for their own care and treatment decisions. The findings of this study indicate that a dedicated transition protocol may be beneficial, such that adolescents are prepared to confidently access and manage their care into adulthood. Opportunities for improvements in transition planning and provision are discussed.

Analysis and Reporting of Randomized Trials in Cleft Palate Surgery: Learning from the Timing of Primary Surgery (TOPS) Trial.

The Timing of Primary Surgery (TOPS) trial was published August 2023 in the New England Journal of Medicine and is a milestone achievement for a study focused on cleft palate. Due to the complexity of outcome reporting in cleft and the rarity of such comparative trials, TOPS presents a useful opportunity to critically review the design, analysis and reporting strategies utilised. This perspective article focused on the inclusion of participants, the choice of the primary outcome measure and the analysis of ordinal data within the trial. Considerations for future comparative studies in cleft care are discussed.

The Development, Deployment, and Evaluation of the CLEFT-Q Computerized Adaptive Test: A Multimethods Approach Contributing to Personalized, Person-Centered Health Assessments in Plastic Surgery.

BACKGROUND: Routine use of patient-reported outcome measures (PROMs) and computerized adaptive tests (CATs) may improve care in a range of surgical conditions. However, most available CATs are neither condition-specific nor coproduced with patients and lack clinically relevant score interpretation. Recently, a PROM called the CLEFT-Q has been developed for use in the treatment of cleft lip or palate (CL/P), but the assessment burden may be limiting its uptake into clinical practice. OBJECTIVE: We aimed to develop a CAT for the CLEFT-Q, which could facilitate the uptake of the CLEFT-Q PROM internationally. We aimed to conduct this work with a novel patient-centered approach and make source code available as an open-source framework for CAT development in other surgical conditions. METHODS: CATs were developed with the Rasch measurement theory, using full-length CLEFT-Q responses collected during the CLEFT-Q field test (this included 2434 patients across 12 countries). These algorithms were validated in Monte Carlo simulations involving full-length CLEFT-Q responses collected from 536 patients. In these simulations, the CAT algorithms approximated full-length CLEFT-Q scores iteratively, using progressively fewer items from the full-length PROM. Agreement between full-length CLEFT-Q score and CAT score at different assessment lengths was measured using the Pearson correlation coefficient, root-mean-square error (RMSE), and 95% limits of agreement. CAT settings, including the number of items to be included in the final assessments, were determined in a multistakeholder workshop that included patients and health care professionals. A user interface was developed for the platform, and it was prospectively piloted in the United Kingdom and the Netherlands. Interviews were conducted with 6 patients and 4 clinicians to explore end-user experience. RESULTS: The length of all 8 CLEFT-Q scales in the International Consortium for Health Outcomes Measurement (ICHOM) Standard Set combined was reduced from 76 to 59 items, and at this length, CAT assessments reproduced full-length CLEFT-Q scores accurately (with correlations between full-length CLEFT-Q score and CAT score exceeding 0.97, and the RMSE ranging from 2 to 5 out of 100). Workshop stakeholders considered this the optimal balance between accuracy and assessment burden. The platform was perceived to improve clinical communication and facilitate shared decision-making. CONCLUSIONS: Our platform is likely to facilitate routine CLEFT-Q uptake, and this may have a positive impact on clinical care. Our free source code enables other researchers to rapidly and economically reproduce this work for other PROMs.

Transitioning from child to adult cleft lip and palate services in the United Kingdom: Are the NICE Guidelines reflected in young adults' experiences?

Cleft lip and/or palate (CL/P) is one of the most common congenital conditions worldwide. Individuals born with CL/P will embark on a long-term treatment pathway throughout childhood and often into adulthood. As they grow older, young people become more involved in medical decisions. The National Institute for Clinical Excellence (NICE) has published guidance for health professionals on how transitions of responsibility should be managed in health services. The aim of the current study was to examine the extent to which the NICE recommendations are currently being implemented in UK CL/P services according to young adults' first-hand accounts. Semi-structured interviews were carried out with 15 young adults with CL/P aged 16-25 years. Interview questions were designed to map onto the NICE guidance. Data were analysed to assess whether each guideline was met, partially met, or not met for each individual participant. Overall, findings suggest that further consideration is needed as to how best to implement the recommendations effectively. The introduction of assigned transition workers in CL/P services to co-ordinate transition to adult care offers one possible solution. Focusing on the provision of holistic, patient-centred care, this aspect of the CL/P service could include giving patients access to medical history documentation, liaison with key health professionals including GPs and dental practitioners, and the development of age-appropriate resources to facilitate the transition process.

Reflective Foreign Bodies Mimicking Fistulae of the Hard Palate in the Paediatric Population.

Palatal foreign bodies remain relatively rare, consequently, delays in diagnosis and misdiagnosis can occur leading to unnecessary anxiety and invasive investigations. We report three children with a reflective disc from inside a confetti balloon masquerading as a fistula of the hard palate. Awareness of this foreign body phenomenon enabled timely diagnosis in subsequent patients; hence the need to highlight such cases to the global cleft community. Crucially, while the foreign body remains in the oral cavity, there is an ongoing risk of airway aspiration which could be life threatening. Removal can be easily facilitated in the outpatient setting.

Isolation, Uncertainty and Treatment Delays: Parents' Experiences of Having a Baby with Cleft Lip/Palate During the Covid-19 Pandemic.

OBJECTIVES: Previous literature finds that having a child with a cleft lip and/or palate (CL/P) may pose social and emotional challenges for parents. For parents of children born during the Covid-19 pandemic, such challenges may be heightened. Further, novel demands brought about by the pandemic could have caused additional hardships. The aim of this study was to describe the impact of the pandemic on new parents through qualitative exploration of their experiences. DESIGN: Semi-structured interviews were conducted with 14 parents of children born in the United Kingdom with CL/P between January and June 2020, around the start of the pandemic. Data were analysed using inductive thematic analysis. RESULTS: Three themes, with sub-themes, were identified. The first theme, "Changes to Healthcare: The Impact of Restrictions and Reduced Contact", discussed the impact of the pandemic on perinatal care, the care received from the specialist CL/P teams, and parents' experiences of virtual consultations. The second theme, "Family Functioning During the Pandemic", covered parental anxiety, fathers' experiences, and social support. The third theme, "Surgical Prioritisation: Delays and Uncertainty", addressed changes to surgical protocols, coping with uncertainty, complications associated with delayed surgery, and how parents created positive meaning from this period. CONCLUSIONS: A range of increased and additional psychosocial impacts for parents were identified, along with several coping strategies, utilization of social support, and the positive aspects of their experiences. As the pandemic continues, close monitoring of families affected by CL/P remains imperative, particularly for those at risk of emotional distress.

The Impact of the Covid-19 Pandemic on Cleft Lip and Palate Service Delivery for New Families in the United Kingdom: Medical and Community Service Provider Perspectives.

OBJECTIVES: Professionals in the United Kingdom providing care to new families affected by cleft lip and/or palate (CL/P) had to adapt to ensure families' needs were met during a time of uncertainty due to Covid-19. The aims of this study were to explore the impacts of the pandemic on CL/P care provision for new families from the perspectives of professionals working in medical and community settings along with any personal impact on professionals and their reflections on the future of CL/P care. DESIGN: Semistructured interviews (n = 27) were completed about experiences from March 2020 to October 2020 with consultant cleft surgeons (n = 15), lead clinical nurse specialists (n = 8), and staff working at the Cleft Lip and Palate Association (n = 4). Transcripts were analyzed using inductive thematic analysis. RESULTS: Three themes were identified: (1) the impact of Covid-19 on the provision of cleft care in the United Kingdom, including working conditions, delays to treatment, and Covid-19 policies; (2) the impact of the pandemic on professionals' mental health, including personal distress and concerns about Covid-19 exposure; and (3) reflections on the future of CL/P care, whereby professionals expressed both hope and concern about the Covid-19 recovery effort. CONCLUSIONS: The ongoing Covid-19 pandemic has impacted CL/P service delivery for new families significantly, warranting recommendations for cohesive psychological support for families in addition to a safe and resourced recovery effort. Support for professionals is also suggested, following existing evidence-based models for providers' needs that address the difficulties of working throughout challenging times.

Psychometric Validation of the CLEFT-Q Patient Reported Outcome Measure: A Prospective Study to Examine Cross-Sectional Construct Validity.

OBJECTIVE: CLEFT-Q is a condition-specific patient-reported outcome measure (PROM) for patients with cleft lip and/or palate (CL/P). The aim of this study was to examine the cross-sectional construct validity of the CLEFT-Q scales. DESIGN: Construct validity was assessed through a prospective study that tested hypotheses regarding correlations of scores with other PROMs that measure related constructs. SETTING: Seven cleft centres in Canada, the USA, and UK were involved. PATIENTS/PARTICIPANTS: Patients were aged eight to 29 years with CL/P. INTERVENTIONS: Before undergoing rhinoplasty, orthognathic, cleft lip scar revision, and alveolar bone graft, participants were asked to complete the following PROMs: CLEFT-Q (9 scales), Child Oral Health Impact Profile (socio-emotional subscale) and Cleft Hearing Appearance and Speech Questionnaire (features 1 subscale). MAIN OUTCOME MEASURE(S): The correlation coefficients examining the relationship between the scales were the main outcome measures. Correlations (Spearman) were calculated and interpreted as follows: <0.3 weak, 0.30 to 0.50 moderate, ≥0.50 strong. RESULTS: Participants (n = 177) were mostly male (61%) and aged between eight and 11 years (42%). Overall, 38 of 52 (73%) hypotheses tested were supported. More specifically, 20 of 26 (77%) hypotheses about correlations between the appearance scales were supported, two of three (67%) hypotheses about correlations between the health-related quality of life scales were supported, and 16 of 23 (70%) hypotheses about correlations between the appearance and health-related quality of life scales were supported. CONCLUSIONS: Cross-sectional construct validity of the CLEFT-Q scales adds further evidence of the psychometric properties of this instrument.

Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation.

Apert syndrome (AS) is caused by the heterozygous presence of 1 of 2 specific missense mutations of the fibroblast growth factor receptor 2 (FGFR2) gene. The 2 adjacent substitutions, designated p.Ser252Trp (S252W) and p.Pro253Arg (P253R), account for more than 98% of cases. Previous research has identified elevated hearing difficulties and incidence of cleft palate in this population. However, the influence of FGFR2 genotype on the speech, language, and communicative participation of children with AS has yet to be examined. METHODS: A retrospective case note analysis was completed for all patients with a genetically-confirmed Apert mutation who attended the Oxford Craniofacial Unit over a 43-year period (1978-2020). Medical records were analyzed for speech, language, hearing, and communication data in detail. The therapy outcome measures, based on the World Health Organization International Classification of Functioning, Disability, and Health was used to classify patient's communicative participation. RESULTS: The authors identified 55 AS patients with genetically-confirmed mutation of the FGFR2 gene. One patient with a S252F mutation was excluded. There were 31 patients with the S252W mutation (male = 14; female = 17), age range of last hearing assessment (1-18 years), 64% (18/28) of patients had a cleft palate (including bifid uvula), 15 patients had conductive hearing loss, 1 patient had mixed hearing loss, 18 had otitis media with effusion (4 of whom had a cleft palate); 88% (21/24) of patients had receptive language difficulties, 88% (22/25) of patients had expressive language difficulties, 96% (27/28) of patients had a speech sound disorder. There were 23 patients with the P253R mutation (male = 13; female = 10); age range of last hearing assessment (1-13 years), 35% (8/23) patients had a cleft palate (including bifid uvula), 14 patients had a conductive hearing loss, 17 had otitis media with effusion (2 of whom had a cleft palate). Results indicated that 85% (17/20) of patients had receptive language difficulties, 80% (16/20) had expressive language difficulties, 100% (21/21) had a speech sound disorder. The S252W mutation was significantly-associated with the presence of cleft palate (including bifid uvula) (P  = 0.05).Data about the cumulative impact of all of these factors for communicative participation using the therapy outcome measures were available for 47 patients: (30 S252W; 17 P253R). Patients with a S252W mutation had significantly more severe difficulties with communicative participation when compared to individuals with a P253R mutation (P  = 0.0005) Cochran-Armitage trend test. CONCLUSIONS: Speech, language, communicative participation, and hearing difficulties are pervasive in patients with AS. The severity and functional impact of these difficulties are magnified in patients with the S252W mutation. Results reinforce the importance of considering patients with AS according to genotype.

The Throat Pack Debate: A Review of Current Practice in UK and Ireland Cleft Centers.

INTRODUCTION: The use of throat packs during oropharyngeal surgery has long been a topic of debate among cleft surgeons. The advantage of inserting an absorbent tulle within the pharynx must be weighed against the risk of unintended retention postoperatively. Despite safety check mechanisms in place, retention may occur with potentially life-threatening consequences. We present a comprehensive review of throat pack use in all cleft units within the United Kingdom and Ireland. METHODS: All 20 cleft surgery units in the United Kingdom and Ireland were surveyed on their use of throat packs in children aged 6 months to 2 years undergoing elective cleft palate surgery. RESULTS: The response rate to the survey was 100%. Seventy-five percent of units currently use throat packs; in 40%, they are used in addition to cuffed endotracheal tubes (ETTs). Inclusion of the throat pack in the surgical swab count was perceived as the safest mechanism employed to avoid retention. 26.1% of respondents were aware of at least 1 incident of pack retention in their unit. DISCUSSION/CONCLUSION: The reported UK and Irish experience demonstrates that three-quarters of units routinely use packs. Notably, a quarter of respondents to the survey have experience of an incident of throat pack retention. Nevertheless, the majority of respondents considered the perceived risk of retaining a pack to be low. The growing use of microcuffed ETTs in UK cleft units paired with a low incidence of perioperative complications when a throat pack is not introduced might prompt cleft surgeons to review routine pharyngeal packing.

Recursive Partitioning vs Computerized Adaptive Testing to Reduce the Burden of Health Assessments in Cleft Lip and/or Palate: Comparative Simulation Study.

BACKGROUND: Computerized adaptive testing (CAT) has been shown to deliver short, accurate, and personalized versions of the CLEFT-Q patient-reported outcome measure for children and young adults born with a cleft lip and/or palate. Decision trees may integrate clinician-reported data (eg, age, gender, cleft type, and planned treatments) to make these assessments even shorter and more accurate. OBJECTIVE: We aimed to create decision tree models incorporating clinician-reported data into adaptive CLEFT-Q assessments and compare their accuracy to traditional CAT models. METHODS: We used relevant clinician-reported data and patient-reported item responses from the CLEFT-Q field test to train and test decision tree models using recursive partitioning. We compared the prediction accuracy of decision trees to CAT assessments of similar length. Participant scores from the full-length questionnaire were used as ground truth. Accuracy was assessed through Pearson's correlation coefficient of predicted and ground truth scores, mean absolute error, root mean squared error, and a two-tailed Wilcoxon signed-rank test comparing squared error. RESULTS: Decision trees demonstrated poorer accuracy than CAT comparators and generally made data splits based on item responses rather than clinician-reported data. CONCLUSIONS: When predicting CLEFT-Q scores, individual item responses are generally more informative than clinician-reported data. Decision trees that make binary splits are at risk of underfitting polytomous patient-reported outcome measure data and demonstrated poorer performance than CATs in this study.

Velopharyngeal Incompetence in Children With 22q11.2 Deletion Syndrome: Velar and Pharyngeal Dimensions.

ABSTRACT: The surgical management of velopharyngeal incompetence (VPI) in children with 22q11.2 deletion syndrome (22q11.2 DS) is challenging. There are numerous approaches and children often undergo more than one operation. Our aim was to develop a method using images from routine lateral videofluoroscopy to study the dimensions of the velopharynx in this cohort.We analyzed 22 pre-operative lateral videofluoroscopy recordings of children with 22q11.2 DS and VPI. Fourteen had a submucous cleft palate (SMCP) and 8 had no obvious palatal abnormality but who were subsequently labelled as having an occult submucous cleft palate (OSMCP). The control data were 10 historic records of children with cleft lip and an intact palate. The authors identified key points on radiographs of the velum at rest and when elevated to measure the total velar length, functional velar length and pharyngeal depth and compared them ratiometrically.The intra-observer reliability was > 0.9 whereas the inter-observer reliability was > 0.74. The velopharyngeal depth/total velar length was significantly greater in 22q11.2 DS than the control group P < 0.001. There was no difference between SMCP and OSMCP patients, P = 0.556. There was no difference in the functional velar length/total velar length between 22q11.2 DS and controls (P = 0.763).In this study, the authors demonstrate a reliable method to gain useful ratiometric measurements of the velopharynx. This may help with treatment planning. Children with 22q11.2 DS and VPI have a larger velopharyngeal depth/total velar length ratio that may explain some of the difficulty in management.

Response to Achieving Consensus in the Measurement of Psychological Adjustment to Cleft Lip and/or Palate at Age 8+ Years.

In this letter, we discuss the recently published paper by Stock et al, entitled Achieving Consensus in the Measurement of Psychological Adjustment to Cleft Lip and/or Palate at Age 8+ Years.

Use of the Sphenoid Flap in Repair of the Wide Cleft Palate.

OBJECTIVE: In wide palatal defects, closure of the nasal layer can prove a considerable challenge. Mobilizing nasal flaps posteriorly usually facilitates soft palate closure. However, the defect is often too wide within the hard palate; hence, bilateral vomerine flaps are frequently required. Despite this, there is often a small defect in the nasal layer at the posterior septum (typically equating to the hard-soft palate junction), which has to be left to heal by secondary intention with the resulting increased risk of fistula formation and the potential deleterious long-term effect on speech due to cicatricial migration of the reconstructed levator sling anteriorly. We describe our experience in the use of the sphenoid flap to obtain tension-free primary closure of the nasal layer. METHODS: A retrospective multi-center study assessing all sphenoid flap procedures undertaken at both Birmingham Children's Hospital and Great Ormond Street Hospital. Key demographic and medical data was collected pre-, peri-, and postoperatively across the 2 sites. RESULTS: A total of 66 patients underwent the use of a sphenoid flap to aid closure of the nasal layer. The average age at time of repair was 9.7 months. More than half (55%, n = 36) were isolated cleft palates, and 35% (n = 23) were BCLPs. Forty-two percent of all patients had Robin sequence. The average cleft width was 14.4 mm. The overall fistula rate was 25.8% (n = 17). CONCLUSIONS: We describe the operative technique, indications, and our experience in the use of the sphenoid flap in wide cleft palate repair.

Global variation in cleft palate repairs: an analysis of 352,191 primary cleft repairs in low- to higher-middle-income countries.

Objectives : Resources for repair of cleft lip and palate may be lacking in low- and middle-income countries. The Smile Train is a registered charity that supports cleft repair in resource-poor settings. In the global health care challenge, it has been suggested that many babies born with cleft palates are not repaired. This study aims to determine whether any variation exists in the proportion of cleft lip and cleft palate repairs undertaken in low- and middle-income countries. Methods : Data were obtained from the Smile Train database of 352,191 consecutive cleft operations performed between 2008 and 2011 in low- to higher-middle-income countries. The ratio of cleft lip to palate repair was analyzed as a function of geographic region and by country income (gross national income). Results : A significant correlation exists between both the income of a country and its geographical region to the ratio of lip and palate repair procedures undertaken. Higher-income countries had a higher ratio of cleft palate repairs. Countries in sub-Saharan Africa have the lowest proportion of cleft palate repairs. Conclusion : This study emphasizes that many babies born with cleft palates in resource-poor regions do not have their palates repaired. This finding may be explained by an increased neonatal mortality in cleft palate babies. Furthermore, fewer isolated palatal clefts may present to an appropriate health care facility or there may be a reluctance to treat cleft palate due to concerns regarding higher perioperative risks or the lack of available surgical and anesthetic expertise.

Enhancing the vermilion in adult secondary cleft lip repair with a continuous V plasty without closure of the donor defect-a case series.

The aim of this paper was to describe a modification to an old method to enhance the vermillion in adult cleft patients. We present ten consecutive patients who requested enhancement of the upper lip vermillion. The technique involves a continuous V plasty within the non-visible mucosa to elevate the vermillion. Each V incision is of a different size to match the defect. Then the V flaps are sutured to one another but the donor defect is left open to epithelialise. Adjunctive procedures are possible at the same time. There were no major complications but one patient was over corrected and needed reduction of mucosa. The technique offers a permanent enhancement of the vermillion and is a safe alternative to other methods of lip augmentation including fillers.

The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.

Pfeiffer syndrome is an autosomal dominant condition classically combining craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a small number of cases can be attributed to mutations outside this region of the protein. A mild form of Pfeiffer syndrome can rarely be caused by a specific mutation in FGFR1. We report on the clinical and genetic findings in a three generation British family with Pfeiffer syndrome caused by a heterozygous missense mutation, p.Ala172Phe, located in the IgII domain of FGFR2. This is the first reported case of this particular mutation since Pfeiffer's index case, originally described in a German family in 1964, on which basis the syndrome was eponymously named. Genetic analysis demonstrated the two families to be unrelated. Similarities in phenotypes between the two families are discussed. Independent genetic origins, but phenotypic similarities in the two families add to the evidence supporting the theory of selfish spermatogonial selective advantage for this rare gain-of-function FGFR2 mutation.

Closure of the radial forearm donor site using a local hatchet flap: analysis of 45 consecutive cases.

BACKGROUND: The radial forearm free flap (RFFF) is widely used in reconstructive surgery. Traditional donor-site closure by grafting may be associated with significant aesthetic and functional morbidity. We report our experience with primary closure using a local hatchet flap. METHODS: In all, 45 consecutive patients who underwent RFFF reconstruction in the head and neck during an 8-year period were retrospectively assessed with regards to their donor-site morbidity. RESULTS: The mean age of the patients was 54, with 23 being female. The mean RFFF area harvested was 37.7 cm; mean width, 7.6 cm (5.5-11 cm); and mean length, 4.7 cm (3.5-6.5 cm). All patients had their donor site closed primarily utilizing a local hatchet flap. At the time of follow-up, there were 33 surviving patients, of which 31 patients were available for assessment. CONCLUSIONS: We recommend this technique of primary closure of the RFFF donor site: it is well tolerated by the patient, with good cosmesis and is associated with no discernable functional morbidity.

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.