Dana Andari, Roland Assaf, Ismat Annan, Giuliana Roggiero, Nicola M Stock, Usama Hamdan
{"title":"Psychosocial Care From the Cleft Provider Perspective in Low Resource Settings.","authors":"Dana Andari, Roland Assaf, Ismat Annan, Giuliana Roggiero, Nicola M Stock, Usama Hamdan","doi":"10.1177/10556656251382697","DOIUrl":"https://doi.org/10.1177/10556656251382697","url":null,"abstract":"<p><p>ObjectiveIn low resource settings, there are several barriers to achieving a multidisciplinary approach covering all aspects of cleft including psychosocial services. The study aim was to gain insight into current psychosocial practices in these settings.DesignCross-sectional study.SettingComprehensive Cleft Care Workshop in October 2024.ParticipantsWorkshop Attendees.InterventionsA 20-item survey including quantitative and qualitative questions about psychosocial practices in participants' workplaces was distributed.Main Outcome MeasuresThe main outcomes were to assess cleft psychosocial practices, and the challenges faced when integrating psychosocial care in low resource settings.ResultsSeventy-six respondents were working in low-resource settings in Africa or Asia, with 67.2% working in plastic or oral/maxillofacial surgery department and 68.4% working in an academic hospital. Almost 90% of respondents work in a multidisciplinary team. Of those who responded that psychosocial care was available in their setting (n = 44), 47.7% reported that either psychologists or psychiatrists were responsible for providing this care. Twenty-five (56.8%) of these respondents reported that although psychosocial support is available, this service is not provided by a cleft specialist. Most respondents reported a lack of resources/tools (68.4%) as a challenge to referring patients to psychosocial care and mentioned a need for: (1) more cleft-specialized psychosocial personnel; (2) dedicated financial budgets; (3) increased awareness; and (4) protocols to integrate multidisciplinary discussions.ConclusionsAvailability, accessibility and knowledge of the importance and recommended delivery of psychosocial services in cleft remains limited in low resource settings. Further research into psychosocial needs and ways of improving delivery is required.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251382697"},"PeriodicalIF":1.3,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145226124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Isabel A Ryan, Nicholas A Han, Ashley E Chang, Alvin B Yu, Philip D Tolley, Allison C Hu, Oksana A Jackson, Scott P Bartlett, Jesse A Taylor, Jordan W Swanson
{"title":"Global Increase in Oronasal Fistula Rates Following Cleft Palate Repair: A Systematic Review and Meta-Analysis of Reported Fistula Rates.","authors":"Isabel A Ryan, Nicholas A Han, Ashley E Chang, Alvin B Yu, Philip D Tolley, Allison C Hu, Oksana A Jackson, Scott P Bartlett, Jesse A Taylor, Jordan W Swanson","doi":"10.1177/10556656251382537","DOIUrl":"https://doi.org/10.1177/10556656251382537","url":null,"abstract":"<p><p>ObjectiveOronasal fistula (ONF) rates after primary palatoplasty may be influenced by technique improvements and care expansion. We evaluated the temporal and geospatial patterns of ONF.DesignA systematic review and meta-analysis were performed of publications between January 1960 and November 2024 that reported fistula rate following cleft palate repair.SettingN/A.PatientsPatients with cleft palate.InterventionsPrimary palatoplasty.Main Outcome Measure(s)Fistula rate.Results223 publications with 71,238 patients were included. Median fistula rates decreased from the 1960s (13.9%, n = 2) to the 2000s (4.9%, IQR: 2.9%-11.0%). Fistula rates increased significantly in the 2010s (6.7%, IQR: 2.6-14.0%), and continued to increase in the 2020s (10.7%, IQR: 5.7-20.5%, p = 0.005). Fistula rates among European nations showed the largest increase from the 2000s (4.4%, IQR: 2.0-12.5%) to the 2020s (21.1%, IQR: 12.7-49.4%, p = 0.041).ConclusionsReported fistula incidence declined from reports in the 1960s through the 2000s but has since increased.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251382537"},"PeriodicalIF":1.3,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145226126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sarut Chaisrisawadisuk, Thannicha Tunkijjaroen, Achara Sathienkijkanchai, Nithiwat Vatanavicharn, Mark H Moore
{"title":"VACTERL Association and Unilateral Lambdoid Craniosynostosis.","authors":"Sarut Chaisrisawadisuk, Thannicha Tunkijjaroen, Achara Sathienkijkanchai, Nithiwat Vatanavicharn, Mark H Moore","doi":"10.1177/10556656251383401","DOIUrl":"https://doi.org/10.1177/10556656251383401","url":null,"abstract":"<p><p>We present the case of a 2-year-old Thai boy with VACTERL association who was also diagnosed with left unilateral lambdoid craniosynostosis, a rare and atypical finding in this syndrome. The patient exhibited multiple congenital anomalies, including butterfly vertebrae, imperforate anus, and a patent ductus arteriosus. At 12 months of age, he was referred to the Craniofacial team due to posterior plagiocephaly and facial asymmetry. Imaging confirmed left lambdoid synostosis with effacement of the subarachnoid space, prompting surgical intervention. At 15 months, he underwent posterior cranial vault remodeling, which successfully improved cranial morphology and intracranial volume. Postoperatively, the patient demonstrated age-appropriate developmental milestones and significant improvement in head shape, though mild facial asymmetry persisted. This case highlights the rare coexistence of lambdoid craniosynostosis with VACTERL association, emphasizing the importance of early diagnosis, timely surgical intervention, and a multidisciplinary approach in managing complex congenital anomalies. While craniosynostosis is not classically associated with VACTERL, this report suggests a potential overlap that warrants further genetic and molecular investigation. Early recognition and treatment of craniofacial abnormalities in patients with VACTERL is crucial in optimizing functional and aesthetic outcomes.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251383401"},"PeriodicalIF":1.3,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145226094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ellen Wang, Kylie Swiekatowski, Danielle Sobol, Matthew Greives, Emily Hansen-Kiss
{"title":"The Great Escape: A Case Series on <i>DDX3X</i> Craniofacial Phenotypes in Females.","authors":"Ellen Wang, Kylie Swiekatowski, Danielle Sobol, Matthew Greives, Emily Hansen-Kiss","doi":"10.1177/10556656251383776","DOIUrl":"https://doi.org/10.1177/10556656251383776","url":null,"abstract":"<p><p>Introduction<i>DDX3X</i>-related neurodevelopmental disorder (<i>DDX3X</i>-NDD) is a rare genetic condition that primarily affects females, leading to developmental delays and intellectual disability. <i>DDX3X</i> variants, primarily <i>de novo</i>, account for an estimated 1% to 3% of females with unknown causes of intellectual disability. Affected males have also been reported, often with the variant being inherited from an asymptomatic or mildly symptomatic mother.Case Description<i>Case 1</i>. The patient is a 22-month-old female, born full-term, with a history of developmental delay and complete bilateral cleft lip and palate (CLP). Whole exome sequencing (WES) identified a <i>de novo</i> pathogenic missense variant in the <i>DDX3X</i> gene, <i>DDX3X</i> c.1039G > T (p.Asp347Tyr). Developmentally, the patient is progressing gradually-can sit unassisted, but remains nonverbal.<i>Case 2</i>. The patient is a 4-year-old female, born full-term, with a history of right hemifacial microsomia and <i>DDX3X</i>-NDD, and no known family history. The patient has global developmental delay, but is able to speak in 3- to 4-word sentences. WES identified a <i>de novo</i> <i>DDX3X</i> frameshift variant, c.841_842delC>A (p.Gln281AspfsX13). Facial features include right-sided hemifacial microsomia, with right enophthalmos, microtia, mandibular hypoplasia, and bilateral facial nerve weakness. The patient is well-managed at home and receives regular care from neurology and speech therapy at school.DiscussionAlthough there have been numerous reports on the neurodevelopmental aspects of <i>DDX3X</i>-NDD, craniofacial findings such as hemifacial microsomia and CLP have been minimally reported in the literature. Given the association between <i>DDX3X</i> variants and craniofacial findings, plastic surgeons and their multidisciplinary team should be aware of this genetic condition.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251383776"},"PeriodicalIF":1.3,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145226154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Thomas J Sitzman, Jessica L Chee-Williams, Davinder J Singh, Kelly Nett Cordero, Patricia Beals, Maria T Britto
{"title":"Achieving and Sustaining Standardized Measurement of Treatment Outcomes in Children With Cleft Lip/Palate: Pilot Study of a Multifaced Implementation Strategy.","authors":"Thomas J Sitzman, Jessica L Chee-Williams, Davinder J Singh, Kelly Nett Cordero, Patricia Beals, Maria T Britto","doi":"10.1177/10556656251382528","DOIUrl":"https://doi.org/10.1177/10556656251382528","url":null,"abstract":"<p><p>ObjectivePrior work has identified numerous barriers to standardized outcome measurement in cleft care. The objective of this study was to evaluate a multifaceted implementation strategy to collect standardized outcomes for children with cleft lip and/or palate (CL/P).DesignA one-armed, single-site pilot study of a multifaceted implementation strategy.SettingA metropolitan children's hospital.PatientsFive-year-old children with CL/P.InterventionsA multifaceted implementation strategy for standardized outcome measurement.Main Outcomes MeasuresThe primary outcome measure was penetration of the intervention, defined as the proportion of children for whom the standardized measures of aesthetic, dental, and speech outcomes were collected. Penetration pre-implementation and 12 months post-implementation were compared. The secondary outcome was acceptability of standardized outcome measurement among providers and staff, evaluated with the Acceptability of Intervention Measure.ResultsThe implementation strategy resulted in high penetration of standardized outcome measurement: measurement of aesthetic outcomes increased from 7% to 82% (<i>p</i> < .0001); measurement of dental outcomes increased from 0% to 56% (<i>p</i> < .0001); measurement of speech outcomes increased from 29% to 77% (<i>p</i> = .0001). Acceptability of standardized outcome measurement was high, with 93% of cleft team providers and staff (n = 14/15) reporting that they somewhat or completely agreed that standardized outcome measurement met their approval, was appealing, was welcomed, and was liked. Penetration continued to improve after the implementation period, with high rates of outcome measure collection sustained for four years following implementation.ConclusionsDeployment of a multifaceted implementation strategy led to substantial increases in the collection of aesthetic, dental, and speech outcomes among children with CL/P.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251382528"},"PeriodicalIF":1.3,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145226112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lucas R Perez Rivera, Matthew Brett, David A Staffenberg, Roberto L Flores
{"title":"Mature Cleft Rhinoplasty: Morphologic Outcomes of Septal Cartilage Grafting.","authors":"Lucas R Perez Rivera, Matthew Brett, David A Staffenberg, Roberto L Flores","doi":"10.1177/10556656251382536","DOIUrl":"https://doi.org/10.1177/10556656251382536","url":null,"abstract":"<p><p><i>Objective</i>To evaluate morphologic outcomes following mature cleft rhinoplasty using exclusive septum cartilage grafting.<i>Design</i>Retrospective, observational study.SettingSingle institution, 8-year retrospective review.Patients/ParticipantsA total of 31 facially mature patients with non-syndromic unilateral cleft lip were included in this study.InterventionsPatients underwent mature cleft rhinoplasty using septum cartilage as the exclusive graft source.Main Outcome MeasuresPreoperative and postoperative photographs (at least 1 year after surgery) were analyzed using 8 distinct anthropometric parameters to assess for statistical significance in the changes to nasal morphology. Paired-samples <i>t</i>-tests were performed, and statistical significance was defined as <i>P</i> < .05.<i>Results</i>The mean changes following mature cleft rhinoplasty were: alar cant 1.96 to 0.95 (<i>P</i> < .001), alar height angle 1.90 to 1.21 (<i>P</i> = .006), nasal tip deviation 2.90 to 1.99 (<i>P</i> < .001), vertical alar height ratio 0.95 to 0.95 (<i>P</i> = .4), nasofacial angle 28.52 to 31.48 (<i>P</i> = .003), nasolabial angle 83.15 to 87.96 (<i>P</i> = .01), columellar angle 9.09 to 3.30 (<i>P</i> < .0001), and nostril height ratio 0.80 to 0.88 (<i>P</i> < .001).<i>Conclusions</i>The nasal septum can be considered as a reliable initial choice for cartilage grafts during mature cleft rhinoplasty.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251382536"},"PeriodicalIF":1.3,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145226128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Måns Cornefjord, Joel Bluhme, Andreas Jakobsson, Kristina Klintö, Anette Lohmander, Tofig Mamedov, Mia Stiernman, Rebecca Svensson, Magnus Becker
{"title":"Using Artificial Intelligence for Assessment of Velopharyngeal Competence in Children Born With Cleft Palate With or Without Cleft Lip.","authors":"Måns Cornefjord, Joel Bluhme, Andreas Jakobsson, Kristina Klintö, Anette Lohmander, Tofig Mamedov, Mia Stiernman, Rebecca Svensson, Magnus Becker","doi":"10.1177/10556656241271646","DOIUrl":"10.1177/10556656241271646","url":null,"abstract":"<p><p>ObjectiveDevelopment of an AI tool to assess velopharyngeal competence (VPC) in children with cleft palate, with/without cleft lip.DesignInnovation of an AI tool using retrospective audio recordings and assessments of VPC.SettingTwo datasets were used. The first, named the SR dataset, included data from follow-up visits to Skåne University Hospital, Sweden. The second, named the SC + IC dataset, was a combined dataset (SC + IC dataset) with data from the Scandcleft randomized trials across five countries and an intercenter study performed at six Swedish CL/P centers.ParticipantsSR dataset included 153 recordings from 162 children, and SC + IC dataset included 308 recordings from 399 children. All recordings were from ages 5 or 10, with corresponding VPC assessments.InterventionsDevelopment of two networks, a convolutional neural network (CNN) and a pre-trained CNN (VGGish). After initial testing using the SR dataset, the networks were re-tested using the SC + IC dataset and modified to improve performance.Main Outcome MeasuresAccuracy of the networks' VPC scores, with speech and language pathologistś scores seen as the true values. A three-point scale was used for VPC assessments.ResultsVGGish outperformed CNN, achieving 57.1% accuracy compared to 39.8%. Minor adjustments in data pre-processing and network characteristics improved accuracies.ConclusionsNetwork accuracies were too low for the networks to be useful alternatives for VPC assessment in clinical practice. Suggestions for future research with regards to study design and dataset optimization were discussed.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"1684-1694"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Muath Saad Alassaf, Shadan H Sharbib, Reem H Alhammad, Faisal Hussain Alabdali, Osama A Habib, Ashraf Abdelfattah, Ayoub Aboalkhair, Hasan Albeshir, Mahmood Samman
{"title":"Assessment of Online Arabic Patient-Centered Knowledge About Orthognathic Surgery: An Infodemiologic Study.","authors":"Muath Saad Alassaf, Shadan H Sharbib, Reem H Alhammad, Faisal Hussain Alabdali, Osama A Habib, Ashraf Abdelfattah, Ayoub Aboalkhair, Hasan Albeshir, Mahmood Samman","doi":"10.1177/10556656241275542","DOIUrl":"10.1177/10556656241275542","url":null,"abstract":"<p><p>BackgroundOrthognathic surgery, addressing skeletal and dental irregularities, is pivotal for patients suffering from malocclusion, facial asymmetry, and related disorders. With the internet becoming a primary source of health information, the accuracy, quality, and reliability of online Arabic-language patient-centered information on orthognathic surgery necessitate thorough evaluation. This study aimed to assess the quality, reliability, and readability of Arabic online resources about orthognathic surgery to ascertain their potential as reliable patient education tools.MethodsAn infodemiological approach was employed, analyzing the top 100 websites from Google, Yahoo, and Bing based on specific Arabic search terms related to orthognathic surgery. Websites were evaluated for affiliation, content specialization, and presentation and excluded based on predetermined criteria to ensure relevance and focus. Quality assessment was conducted using the DISCERN instrument, Journal of the American Medical Association (JAMA) benchmarks, and Health On the Net code evaluation. Readability was assessed using the Flesch-Kincaid Grade Level, Simplified Measure of Gobbledygook, and Flesch Reading Ease scales.ResultsOf 600 initial websites, 96 met the inclusion criteria. Most were affiliated with universities or medical centers (53.1%), followed by commercial (28.1%), and non-profit organizations (16.7%). The majority of websites (96.9%) were only partially related to orthognathic surgery. Content analysis revealed a moderate quality of information, with a median overall DISCERN quality rating of 3 out of 5. The JAMA benchmarks showed a lack of comprehensive adherence, with currency being the most achieved criterion. Readability assessments indicated the content was generally accessible yet highlighted the need for Arabic-specific readability evaluation tools.ConclusionThe study reveals a critical need for enhancing Arabic online resources on orthognathic surgery. Despite the available content's moderate quality and acceptable readability, there is a substantial gap in providing comprehensive, patient-centered, and easily understandable information. Future efforts should focus on developing high-quality, reliable, and readable online resources to aid Arabic-speaking patients in making informed decisions about orthognathic surgery.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"1757-1763"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141972137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Uchenna P Egbunah, Yaner T Zhu, Tiara Ratz, Dimitri D Hauri, Andreas L I Thor, Wasiu L Adeyemo
{"title":"Evaluation of Weight, Height, Body Mass Index, and Nutritional Status of Children With and Without Orofacial Cleft in Nigeria.","authors":"Uchenna P Egbunah, Yaner T Zhu, Tiara Ratz, Dimitri D Hauri, Andreas L I Thor, Wasiu L Adeyemo","doi":"10.1177/10556656241272726","DOIUrl":"10.1177/10556656241272726","url":null,"abstract":"<p><p>ObjectiveTo compare the weight, height, BMI and nutritional status of patients with and without cleft lip and/or cleft palate (CLP).DesignCross-sectional studySettingLagos University Teaching HospitalPatients, participantsPatients with CLP and a control group of participants without CLP aged between 1 month and 6 years. All patients in the CLP group had not received surgical or nutritional intervention.Outcome measuresWeight, height, BMI, their respective percentiles, and nutritional status according to the WHO 2006 growth curves of participantsResultsPatients with CLP (n = 60, 21 males, 39 females, mean age: 19.1 months) had significantly lower percentile weight and height compared to those of controls (n = 60, 26 females, mean age, 23.6 months) in univariate analyses (all p < 0.01). Multivariate linear regression revealed significant interactions with age group for weight. In addition, proportions of underweight and short stature were significantly higher in the CLP group compared to the control group (all p < 0.05), and these significant differences were dependent on the age group with between-group significant differences only in age groups less than 25 months.ConclusionsOverall, patients with CLP had significantly lower weight, height, BMI and nutritional status than their unaffected peers, and these differences were dependent on age group. Significantly lower nutritional status was seen in patients with CLP up to 24 months of age, which highlights the need for early nutritional intervention in the management of CLP.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"1718-1727"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Emily R Gallagher, Penny Chow, Maria R Mills, Hazel Perry, Allison C Tam, Glenn Rosenbluth, Yvonne R Gutierrez, Jessica Kianmahd Shamshoni, Marisa Matthews, Daniela N Schweitzer, Anne Hing
{"title":"Genetic Testing in Craniofacial Care: Development of Algorithms for Testing Patients with Orofacial Clefting, Branchial Arch Anomalies, and Craniosynostosis.","authors":"Emily R Gallagher, Penny Chow, Maria R Mills, Hazel Perry, Allison C Tam, Glenn Rosenbluth, Yvonne R Gutierrez, Jessica Kianmahd Shamshoni, Marisa Matthews, Daniela N Schweitzer, Anne Hing","doi":"10.1177/10556656241276857","DOIUrl":"10.1177/10556656241276857","url":null,"abstract":"<p><p>ObjectiveTo develop consensus-based algorithms for genetic testing in patients with common craniofacial conditions.DesignAn online collaborative consisting of online meetings, independent work, and feedback across groups. <i>Setting/Participants:</i> A collaborative of genetics and pediatrics providers from three regional craniofacial centers (four institutions).MethodsCollaborative participants agreed upon a shared initial framework, developed algorithms independently, and presented/tested the algorithms with a national audience. Algorithms were modified based on consensus feedback.ResultsThe collaborative group developed final algorithms for genetic testing in patients with orofacial cleft, branchial arch conditions, and craniosynostosis.ConclusionsTimely and accurate diagnosis of genetic conditions can support medical management recommendations that result in safer surgical interventions. Algorithms can help guide best-practices for testing, particularly in institutions without easy access to genetics providers.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"1764-1773"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12405648/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142001127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}