Cleft Palate-Craniofacial Journal最新文献

Objective: To translate and validate CLEFT-Q^©, patient-reported outcome measure for patients with cleft lip and/or palate (CL and/or P), into Indonesian. CLEFT-Q^© covers the domains of appearance, facial function, health-related quality of life and consists of scales describing outcomes after cleft surgery.

Design: The CLEFT-Q^© instrument was translated according to the International Society of Pharmacoeconomics and Outcomes Research guidelines, including translation, cognitive debriefing, and field-testing.

Setting: Dr. Cipto Mangunkusumo Hospital, Indonesia; independent CL and/or P support groups.

Patients: Patients ages 8-29 with a history of repaired CL and/or P were grouped based on age. Those unable to complete the questionnaire independently were excluded.

Interventions: The primary objective was reliable translation of the CLEFT-Q® instrument. Each scale was assessed for its internal consistency (Cronbach's alpha) and validity (inter-item correlation), and sub-group analyses were performed based on age group.

Results: Forward and back translation revealed 25(13.3%) and 12(6.3%) of items were difficult to translate. Cognitive debriefing revealed 10(5.3%) items were difficult to understand, with the lowest reliability on the facial appearance scale (α=0.27). Other scales demonstrated acceptable to excellent reliability (α=0.53-0.68). Field testing revealed acceptable reliability and validity of the translation (α = 0.74-0.92; 69% ideal range of inter-item correlation). Sub-group analyses revealed patients in the <11y.o. and >18y.o. groups had the lowest scores on the "cleft lip scar" scale while those 11-18y.o. had the lowest scores on the "nostrils" scale.

Conclusion: Iterative translation and cultural adaptation of CLEFT-Q^© into Indonesian demonstrated reliability and validity of the tool, supported by acceptable to excellent internal consistency and ideal inter-item correlation.

Objective: Evaluate the two-dimensional (2D) ultrasound (US) grid and multidisciplinary consultation (maxillofacial surgeon-sonographer) during prenatal US imaging to improve the sensitivity of prenatal description for cleft lip (CL) with or without alveolar cleft (CLA) or +/- cleft palate (CLP).

Design: Retrospective study of children with CL/P in a tertiary children's Hospital.

Setting: Single-center cohort study conducted in a tertiary pediatric Hospital.

Patients/participants: Fifty-nine cases of prenatally diagnosed CL +/-CA or CP between January 2009 and December 2017 were analyzed.

Main outcome measures: The correlation was analyzed between prenatal US and postnatal data with regard to eight 2D US criteria (upper lip, alveolar ridge, median maxillary bud, homolateral nostril subsidence, deviated nasal septum, hard palate, tongue movement, nasal cushion flux) in order to propose them in a grid, as well as the presence of the maxillofacial surgeon during the US examination.

Results: Among the 38 cases included, the results were considered satisfied for 87%. Sixty five percent of the US criteria were described when the final diagnosis was correct (5.2 criteria) versus (vs) 45% (3.6 criteria); [OR = 2.28; IC95% (1.10-4.75) P = .022 < 0.05]. This study also highlighted a more in-depth description when the maxillofacial surgeon was present with 68% of 2D US criteria fulfilled (5.4 criteria) vs 47.5% (3.8) when the sonographer was alone [OR = 2.32; IC95% (1.34-4.06) P < .001].

Conclusion: This US grid with eight criteria has considerably contributed to a more precise prenatal description. In addition, the systematic multidisciplinary consultation seemed to optimize it and lead to better prenatal information on pathology and postnatal surgical techniques.

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.

The purpose of this study is to analyze the clinical characteristics of patients with Van der Woude syndrome (VWS) and to detect variations in each patient. Finally, the combination of genotype and phenotype can make a clear diagnosis of VWS patients with different phenotype penetrance.

Five Chinese VWS pedigree were enrolled. Whole exome sequencing of the proband was performed, and the potential pathogenic variation was further verified by Sanger sequencing in the patient and their parents. The human mutant IRF6 coding sequence was generated from the human full-length IRF6 plasmid by site-directed mutagenesis and cloned into the GV658 vector, RT-qPCR and Western blot were used to detect the expression of IRF6.

We found one de novo nonsense variation (p. Gln118Ter) and three novel missense variations (p. Gly301Glu, p. Gly267Ala, and p. Glu404Gly) co-segregated with VWS. RT-qPCR analysis revealed that p. Glu404Gly significantly reduced the expression level of IRF6 mRNA. Western blot of cell lysates confirmed that IRF6 p. Glu404Gly abundance levels were lower than those for IRF6 wild type.

This discovery of the novel variation (IRF6 p. Glu404Gly) expands the spectrum of known variations in VWS in Chinese humans. Genetic results combined with clinical phenotypes and differential diagnosis points from other diseases can make a definitive diagnosis and provide genetic counseling for families.

Objective: Characterize the interventions and assistance employed by a cleft nurse navigator (CNN) which have mediated improvement in care equity at our institution.

Design: Retrospective study.

Setting: Academic tertiary care center.

Patients, participants: Patients presenting with cleft lip and/or cleft palate presenting between August 2020 and August 2021 with exclusions for syndromic diagnosis, Pierre-Robin sequence, late (> 6 months) presentation, and prior cleft surgery at outside institutions.

Interventions: Multidisciplinary cleft nurse navigator program.

Main outcome measure(s): Family interactions with the CNN by phone, text, and email across the first year of life including feeding support, nasoalveolar molding (NAM) assistance, appointment scheduling, financial assistance, addressing perioperative concerns, and facilitating physician consults. Patient weight and surgical timing were also recorded.

Results: Sixty-nine patients were included with a total of 639 interactions between the CNN and families. Scheduling support (30%), addressing perioperative concerns (22%), and feeding support (20%) were the most common interactions. Feeding support and NAM assistance were heavily distributed in the first 3 months of life compared to after 3 months (P < .001). Median age at first contact was 1 week (range: 22 weeks gestation-14 weeks). There was no difference in the proportion of families receiving feeding support, NAM assistance, or scheduling assistance based on insurance status or race (P > .05 for all).

Conclusions: Scheduling assistance, addressing perioperative concerns, and feeding support are the predominant methods by which the CNN interacts with and assists families of patients with cleft conditions. CNN service distribution is largely equitable between demographic groups.

Objective: This study aims to analyze the readability of online craniosynostosis materials from the perspective of a caregiver, and to assess if readability levels conform to recommendations by the American Medical Association (AMA) and National Institutes of Health (NIH).

Design: This is a cross-sectional investigation in which an internet search was conducted simulating the search terms of a caregiver of a patient with craniosynostosis. The first three pages of resulting records were calculated for comprehension ease using validated readability indices. Records were also classified by author type, including hospital system, national health organization, academic journal, and other.

Main outcome measures: Flesch-Kincaid Reading Grade Level, Gunning fog Index, SMOG Index, and Coleman Liau Index.

Results: Thirty records were identified for which the mean readability level was 12.8 ± 2.6 grade levels (range, 7.6-15.9). There were no significant differences in mean readability across readability indices or author type. None of the thirty records met levels recommended by the AMA or NIH and were 6.8 grade levels above these guidelines on average.

Conclusions: Online material pertaining to craniosynostosis is written, on average, at the reading level of a first-year undergraduate student. The AMA and NIH recommend that articles be written at approximately a sixth-grade reading level to promote comprehension. Therefore, there is significant room for improvement of current online materials. Authors should consider consulting publicly available guides in preparing future resources.

Objective: To evaluate the influence of filling material and timing of surgery on radiograph outcomes of alveolar grafting with premaxillary osteotomy. The null hypothesis was that radiographic outcomes would be similar with both rhBMP-2 (rhBMP-2G) and cancellous bone from the iliac crest (IG), regardless of the timing of surgery.

Design: Cross-sectional study with consecutive sampling of 56 periapical or occlusal radiographs taken 12 months after surgery.

Setting: A single tertiary craniofacial center.

Patients/participants: Twenty-eight patients with complete bilateral cleft lip and palate and mean age of 13 years. The individuals underwent bilateral alveolar grafting associated with premaxillary osteotomy (AG + PO) with rhBMP-2 or cancellous bone from the iliac crest.

Interventions: Experienced maxillofacial surgeons used the same surgical technique in both groups. AG + PO were assigned as success or failure by 3 blinded raters based on modified Bergland and SWAG scales.

Main outcome measures: The influence of filling materials and timing of surgery on radiographic outcomes was verified by Fisher's exact test and chi-square test (P < .05).

Results: There was no significance variation between the mean age of participants in the rhBMP-2G and IG (P = .471). Scales showed almost perfect reliability (agreement rate = 96.4%; K = 0.85). rhBMP-2G and IG had similar success rates with modified Bergland scale (85.7% and 82.1%) and SWAG scale (92.9% and 82.1%), respectively. However, only modified Bergland scale found influence of age on radiographic outcomes (P = .025).

Conclusions: AG + PO performed with rhBMP-2 and iliac crest bone showed similar radiographic success rates, regardless of the timing of surgery.

Objective: The aim of this study was to evaluate the volumetric airway changes using three-dimensional images following unilateral vertical mandibular distraction osteogenesis (uVMD) among patients with hemifacial microsomia (HFM).

Design: This retrospective study analyzed cone-beam computed tomography (CBCT) scans of patients with HFM at three different timepoints; pretreatment (T0), posttreatment (T1), and at least 6 months post-distraction (T2). The individuals underwent uVMD between December 2018-Januaray 2021. The nasopharyngeal (NP) volume, oropharyngeal (OP) volume, and the area of maximum constriction (MC) were measured. Wilcoxon signed-rank test was used to compare the airway volumes between T0-T1, T1-T2, and T0-T2.

Results: Five patients met the inclusion criteria (mean age = 10.4 years; 1 female, 4 males). Intraclass correlation analysis showed excellent interrater reliability (r > .86, P < .001). Posttreatment, the OP airway volume exhibited a significant mean increase of 56% (P = .043) from T0 to T1, but decreased from T1-T2 by 13%. Likewise, the total airway volume presented with a significant mean increase of 48% between T0-T1 (P = .044), and a decrease of 7% from T1-T2. The changes in the NP airway volume and area of MC were not statistically significant (P > .05), but an increase in the mean values were observed.

Conclusion: Surgical intervention with uVMD may significantly increase the OP airway volume and the total airway volume among patients with HFM immediately after distraction. However, the statistical significance diminished after six months post-consolidation, but the mean percent change may remain of clinical significance. The NP volume did not seem to show significant changes in response to uVMD.

Background: Adverse airway events (AAEs) are rare but devastating complications following palatoplasty. The purpose of this study is to evaluate patient risk factors for their effect on these complications. We hypothesize that prolonged operative time and the presence of multiple medical comorbidities are risk factors for AAEs.

Design: Retrospective cohort study.

Setting: Participant hospitals in the Pediatric American College of Surgeons National Surgical Quality Improvement Program year 2016-2019.

Patients: Cases of palatoplasty in children under 3 years of age.

Outcomes: Adverse airway events including postoperative reintubation or any requirement of postoperative mechanical ventilation.

Results: A total of 6668 patients met inclusion criteria. The median operative time was 126 min (IQR 82). AAEs were identified in 107 (1.6%) patients. The incidence of risk factors was found to increase with age and AAEs were more prevalent in younger and older patients. Although patients in the older age groups had significantly higher burden of comorbidities, differences in age were not independently associated with AAEs. Following multivariable logistic regressions, operative times greater than 2 h, ASA class ≥3, >3 medical comorbidities, and black race were found to be significant independent risk factors.

Conclusions: In this large, retrospective database study in palatoplasty, increased operative time, ASA classification ≥3, multiple comorbidities, and black race were independently associated with AAEs.

Objective: The objective of this study is to evaluate online educational resources on cleft lip and palate teams.

Design: A Cross-Sectional Study.

Setting: An International, Multi-Institutional Study.

Participants: All American Cleft Palate and Craniofacial Association-approved teams with websites.

Interventions: None.

Main outcome measures: Websites were assessed for patient education and support content. Affiliation between presence of materials and U.S. Newsweek Top 100 Hospitals was also assessed.

Results: 187 teams were included. Presence of educational videos were available in 29.4% of websites, educational infographics in 18.2%, written materials in 66.8%, perioperative instructions in 19.3%, diagnosis information in 34.8% and treatment information in 63.1%. Information on team members were available on 77.0% of websites, resources in languages other than English in 38.5%, and support group resources in 25.7%. Cleft lip and palate diagnosis information was significantly associated with geographic region, with the largest impact from the West region (P = .03). There was a significant difference between teams affiliated with U.S. Newsweek Top 100 hospitals: Top 100 hospitals had a higher presence of educational infographics, perioperative instructions, definitions, diagnosis, and treatment (P < .01). There was no significant difference between presence of educational videos (P = .37).

Conclusion: While many websites had basic educational materials, very few included detailed information on peri-operative planning, as well as additional forms of information including videos, infographics, and non-English languages. Providing comprehensive patient education materials online is an important supplement for patients with cleft lip and palate and should be prioritized by cleft teams.