Cleft Palate-Craniofacial Journal最新文献

Objective: To describe the Cleft Recurrence Risk (Cleft RR) App, designed to be used on genetic counseling for cleft lip and/ or palate.

Design: A validation study, single cohort.

Setting: Tertiary care children's Hospital.

Patients, participants: The manual obtained the results of 100 cases undergoing genetic counseling at the cleft lip and palate treatment center.

Interventions: The application for genetic counseling for cleft lip and/ or palate is designed to calculate quickly the recurrence risk considering the ancestry, cleft type, sex, and family history and thus encourage the implementation of genetic counseling in cleft lip and palate centers around the world.

Main outcome measure(s): The data were submitted to the Bland-Altman statistics.

Results: After defining parameters the application development follows the steps: development, prototyping, and documentation. The validation of the calculated data was performed by comparing the results of 100 cases undergoing genetic counseling at the cleft lip and palate treatment center obtained by the manual method with the results obtained by the mobile app method; the data were submitted to the Bland-Altman statistics and a high concordance was found.

Conclusions: The mobile app for use by healthcare professionals proved to be simple to use, easy to apply, and provided accurate results. Cleft Recurrence Risk is an application for smartphones developed for genetic counseling in cleft lip and palate, supplementary use by health professionals, and should not replace professional performance.

Objective: To evaluate the influence of common pediatric orthodontic appliances on velopharyngeal (VP) MRI and to compare MR image sequences to determine if sequence parameters impact the visibility of key VP structures commonly assessed in clinical VP MRI.

Design: Participants undergoing orthodontic treatment completed a VP MRI study. Level of distortion caused by orthodontic devices on 8 anatomical sites of interest and using variable MRI sequences was evaluated.

Setting: Single institution.

Participants: Nineteen participants undergoing orthodontic treatment.

Main outcome: Level of distortion caused by metal artifacts and MR sequence used.

Results: The results of this study demonstrate that appliances such as hyrax palatal expanders and braces with stainless steel brackets are acceptable for a VP MRI, while class II corrector springs are not recommended. The HASTE MRI sequence with 2D imaging techniques should be utilized if the child has orthodontic devices, while FSE and 3D imaging techniques are not recommended. The presence of wire spring coils and molar bands are likely to not to interfere with the MRI evaluation.

Conclusions: Findings from this study suggest that the presence of orthodontic appliances does not hinder visualization of all velopharyngeal structures during an MRI. Therefore, careful consideration must be made prior to disqualifying or recommending patients for VP MRI.

Objective: To evaluate the role of postoperative nasal stenting in preserving nasal shape and preventing nostril stenosis in cleft rhinoplasty, and to develop a classification system for postoperative nasal stents.

Design: Systematic review.

Methods: Electronic and manual searches of scientific literature were conducted from 3 databases (PubMed, SCOPUS, OVID). Primary evidence that described postoperative nasal stenting in cleft rhinoplasty were included. Exclusion criteria included secondary evidence, non-English articles, and studies focusing on preoperative nasal stents.

Patients and participants: Patients with cleft lip/nose of any type were included.

Main outcome measure(s): Role in preservation of nasal shape & symmetry, role in prevention of nostril stenosis, complications with the use of postoperative nasal stent.

Results: Of the 13 articles, 9 papers described the preservation of nasal shape with nasal stents and three studies with a control group showed improved symmetry score. No studies evaluated the prevention of nostril stenosis; however, 2 studies reported improvement of nostril stenosis in secondary cleft rhinoplasty. The results of the included studies had significant heterogeneity. Nasal stents were classified into five types: Type I-spare parts assembled, Type II-prefabricated commercial, Type IIIa-patient specific 3D-printed static, Type IIIb-patient specific dynamic, and Type IV-internal absorbable. Total complications were 6.0%, including irritation (0.9%), infection (0.3%), and stent loss (4.6%).

Conclusion: Despite the lack of consensus with postoperative nasal stents, this review suggests its safety and role in preserving shape and improving stenosis. Our classification system highlights variability and the need for better quality studies to determine the efficacy of nasal stents.

Objective: Apply thematic analysis of online discussion boards to characterize families' experiences and concerns regarding craniosynostosis diagnoses to aid physicians in tailoring care to families.

Design: Grounded theory-based qualitative analysis.

Setting: Discussion boards related to craniosynostosis identified via Google and Yahoo.

Patients/participants: Posts about craniosynostosis between 2017-2022.

Interventions: Thematic analysis was performed using three rounds of coding. Post features including author type and use of technical language were examined.

Main outcome measure: Overarching themes emerging from analysis of posts, with forums analyzed until sufficient thematic repetition was observed.

Results: 366 posts from 4 websites by 290 unique users were included. Parents of patients with craniosynostosis wrote 59% of posts while patients wrote 4%. Five selective codes were identified: 1) Building Community, 2) Diagnosis/Evaluation, 3) Treatment, 4) Outcomes, and 5) Emotional Concerns. Building Community was the most assigned code (85% of posts). 71% of parents' posts expressing emotional concerns expressed negative emotions, commonly regarding anxiety about diagnosis (71%), frustration about doctors' responses (21%), or negative reactions to online search results (17%). 88% of patients' posts expressed positive emotions, discussing positive long-term outcomes. Concerns that may guide physicians included anxiety about delayed diagnosis, difficulty distinguishing postpartum head shape changes from craniosynostosis, and difficulty finding a care team.

Conclusions: Online discussion boards allow families of patients with craniosynostosis to share experiences and find community. Improving communication between surgeons, pediatricians, and families about timing of evaluation and revising online information about this condition may ameliorate some anxiety associated with this diagnosis.

Objective: This study aimed to identify risk factors for NSCLP by analyzing polymorphisms in IRF6 rs2013162 and MTHFR A1298C rs1801131 in the Deutero Malay Population in Indonesia.

Setting: DNA isolation from venous blood samples was done followed by PCR and PCR-RFLPs method.

Patients/participants: 115 NSCLP subjects and 120 healthy control subjects.

Main outcome measure(s): The odds ratio (OR) determined to evaluate the risk factors is the main outcome measure.

Material and methods: The study is a case-control design using samples from the venous blood of 115 NSCLP subjects and 120 healthy control subjects. After DNA was extracted, the PCR-RFLPs method was performed using the DdeI restriction enzyme on 100 blood samples of the IRF6 rs2013162 group and Mboll restriction enzyme on 135 blood samples of the MTHFR A1298C rs1801131 group. The Chi-Square test was used with the Exact Fisher alternatives, depending on the expected count value.

Results: The results showed that the T mutant allele (OR = 4.125, P < .05) and GT genotype (OR = 21.00, P < .05) of IRF6 rs2013162 and the C mutant allele (OR = 3.781, P < .05), AC genotype (OR = 5, P < .05) and CC genotype (OR = 9,681, P < .05) of the MTHFR A1298C is associated to a greater risk of NSCLP.

Conclusions: IRF6 rs2013162 and MTHFR A1298C rs1801131 gene polymorphisms are strongly associated with NSCLP among the Deutero Malay population in the Indonesian population.

Introduction: Vomer flap is a technique to close cleft lip and palate. This technique is a simple procedure that has many benefits. However, the vomer flap's application together with primary lip closure is still questionable.

Objective: To find out whether the vomer flap's application in primary cleft lip repair can provide significant benefits.

Design: A systematic review was conducted using the PRISMA methodology has been licensed in PROSPERO databases (CRD42023399487).

Setting: A comprehensive search was set out, utilizing eight data sources up to March 2023.

Participants: Both cohort studies and randomized control trials regarding the use of vomer flaps performed concurrently with cleft lip repair in children up to six months old.

Results: This article involved 8 studies involving 542 patients who met the inclusion criteria, consisting of 6 retrospective cohort studies, 1 RCT study, and 1 prospective cohort study. Vomer flaps provide a reduction in palatal cleft distance of 3-5 mm, a relatively small number of fistulas (0-4%), improvement of velopharyngeal function (nasal tone and nasal emission), maximal development of the maxilla although it is still controversial.

Conclusion: The vomer flap's application in primary cleft lip repair provides many advantages, such as reduced palatal and alveolar clefts, decreased risk of oronasal fistula, increased velopharyngeal function, and increased maxillary growth. It is reliable for the management of cleft lip and palate.

Challenges providing cleft/craniofacial care in rural communities are often reported, leading to disparities in resources available to clinicians. The purpose of this study was to identify the impact of rurality on caseloads and practice patterns of speech-language pathologists (SLPs) regarding speech and velopharyngeal function for children with cleft lip and/or palate (CL/P).

A national, survey of US-based SLPs (N = 359 respondents) investigated resources, comfort level, caseloads, and practice patterns for children with CL/P. Sub-county classifications that delineated levels of rurality were utilized. Descriptive statistics and chi-square analyses were conducted to determine the impact of population density on assessment and referral decisions.

Nearly 83% of SLPs reported providing care for a child with CL/P and 41.4% of these SLPs reported five or more children with CL/P on caseload throughout their career. There were no significant differences in rurality of practice setting and the likelihood of treating a child with CL/P. Significant differences were present between rural, town, suburban, and metropolitan-based SLPs regarding available resources (p = 0.035). SLPs in rural settings reported feeling uncomfortable treating children with CL/P compared to those in metropolitan settings (p = 0.02). Distance to the cleft/craniofacial team and comfort levels impacted referral decisions.

Most SLPs report having children with CL/P on caseload regardless of practice location. Rurality impacted assessment and referral decisions, especially surrounding access to resources and comfort levels engaging in team care. Findings have implications for developing support systems and reducing barriers for rural SLPs working with children born with CL/P.

Objective: Identification of patient factors influencing velopharyngeal function for speech following initial cleft palate repair.

Design: A literature search of relevant databases from inception until 2018 was performed using medical subject headings and keywords related to cleft palate, palatoplasty and speech assessment. Following three stage screening data extraction was performed.

Setting: Systematic review and meta-analysis of relevant literature.

Patients/participants: Three hundred and eighty-three studies met the inclusion criteria, comprising data on 47 658 participants.

Interventions: Individuals undergoing initial palatoplasty.

Main outcome measures: Studies including participants undergoing initial cleft palate repair where the frequency of secondary speech surgery and/or velopharyngeal function for speech was recorded.

Results: Patient factors reported included cleft phenotype (95% studies), biological sex (64%), syndrome diagnosis (44%), hearing loss (28%), developmental delay (16%), Robin Sequence (16%) and 22q11.2 microdeletion syndrome (11%). Meta-analysis provided strong evidence that rates of secondary surgery and velopharyngeal dysfunction varied according to cleft phenotype (Veau I best outcomes, Veau IV worst outcomes), Robin Sequence and syndrome diagnosis. There was no evidence that biological sex was associated with worse outcomes. Many studies were poor quality with minimal follow-up.

Conclusions: Meta-analysis demonstrated the association of certain patient factors with speech outcome, however the quality of the evidence was low. Uniform, prospective, multi-centre documentation of preoperative characteristics and speech outcomes is required to characterise risk factors for post-palatoplasty velopharyngeal insufficiency for speech.

Systematic review registration: Registered with PROSPERO CRD42017051624.

Objective: Apert syndrome (AS) is a rare congenital craniofacial disorder that requires a multidisciplinary approach to treatment and multiple surgeries. Given that cleft palate (CP) is presented in some of these cases, this poses an additional risk of aggravating obstructed airways after closure. The timing and outcome of CP repair in these patients remains disputed and requires additional attention.

Design: This retrospective analysis included patients diagnosed with CP and AS, born between 1950 and 2020, and treated at our institution. Data were collected from medical records and evaluated using descriptive statistics.

Setting: Data analyses were conducted at Sahlgrenska University Hospital in Gothenburg, Sweden.

Patients/participants: A registry of 83 patients with AS resulted in a cohort of 26 patients also presenting with CP.

Main outcome measures: Postoperative complications, requirement for intensive care, and reoperations following CP repair.

Results: CP incidence among all registered patients was 31%. Patients undergoing CP repair at low age (mean: 22.5 months) tended to experience more frequent postoperative complications and requirements for intensive care. Among the evaluated cohort with medical records describing CP repair (n = 14), 29% experienced postoperative complications, all of which involved aggravation of obstructed airways.

Conclusions: This study highlights the importance of airway assessment before and after CP repair in AS. The findings suggest that surgical outcomes might benefit from postponing CP repair, avoiding combined surgeries, and operating in two stages when indicated. However, additional and larger studies are required.

Objective: To describe factors affecting anxiety, depression, stress, and self-esteem in parents of children with microtia.

Design: Cross-sectional correlational study.

Participants: Parents (N = 117) of children with microtia were recruited nationally through a Turkish craniofacial non-governmental organization's social media.

Main outcome measures: Demographics, parental report of microtia experiences and concerns, the Depression Anxiety Stress Scale, and the Rosenberg Self-Esteem Scale.

Results: The mean parental age was 35.61 ± 5.96 years and 74.4% were female. The mean age of their children was 6.08 ± 4.22 years, 69.2% were male, 93.8% had unilateral microtia, and 14.5% had ear reconstruction. Some parents had low self-esteem (24.8%) and were in the severe range for depression (30.7%), anxiety (25.6%), and stress (21.4%). Depression (M = 7.43, SD = 5.35) was associated with worry about child's future (β = 0.25, P = .013), microtia information given around birth (β = -0.20, P = .024), and child no ear surgery (β = -0.23, P = .008), while stress (M = 8.21, SD = 5.37) was associated with worry about the child's future (β = 0.28, P = .008). Parental self-esteem (M = 29.59, SD = 5.10) was related to child having ear surgery (β = 0.19, P = .047) and information about microtia provided around birth (β = 0.22, P = .018). There were no significant associations with Anxiety (M = 6.04, SD = 4.82) identified by multiple regression.

Conclusions: While most parents were in the average to moderate range for clinical concerns, a fifth to a third of participants were in the severe range for depression, anxiety, and stress and a quarter of participants for low self-esteem. Informing families about the microtia treatment process, having the child have surgery, and interventions for reducing their future concerns may provide psychological relief for them.