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Craniosynostosis (CS) is the most common congenital cranial anomaly. Several Mendelian forms of syndromic CS are well described, but a genetic etiology remains elusive in a substantial fraction of probands. Analysis of exome sequence data from 526 proband-parent trios with syndromic CS identified a marked excess (observed 98, expected 33, p = 4.83 × 10-20) of damaging de novo variants (DNVs) in genes highly intolerant to loss-of-function variation (probability of LoF intolerance > 0.9). 30 probands harbored damaging DNVs in 21 genes that were not previously implicated in CS but are involved in chromatin modification and remodeling (4.7-fold enrichment, p = 1.1 × 10-11). 17 genes had multiple damaging DNVs, and 13 genes (CDK13, NFIX, ADNP, KMT5B, SON, ARID1B, CASK, CHD7, MED13L, PSMD12, POLR2A, CHD3, and SETBP1) surpassed thresholds for genome-wide significance. A recurrent gain-of-function DNV in the retinoic acid receptor alpha (RARA; c.865G>A [p.Gly289Arg]) was identified in two probands with similar CS phenotypes. CS risk genes overlap with those identified for autism and other neurodevelopmental disorders, are highly expressed in cranial neural crest cells, and converge in networks that regulate chromatin modification, gene transcription, and osteoblast differentiation. Our results identify several CS loci and have major implications for genetic testing and counseling.
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Craneosinostosis , Tretinoina , Humanos , Mutación , Craneosinostosis/genética , Regulación de la Expresión Génica , Cromatina , Predisposición Genética a la EnfermedadRESUMEN
PURPOSE: Children with surgically corrected nonsyndromic craniosynostosis have been previously found to have neurocognitive and behavioral difficulties. Children with metopic synostosis have been described to have more difficulties than children with sagittal synostosis. This study aims to characterize the behavioral differences between children with metopic and sagittal synostosis. METHODS: Children with metopic and sagittal synostosis were recruited at school age. Parents completed four separated behavioral assessments: Conners-3 (evaluation of ADHD), Social Responsiveness Scale-2 (SRS-2: evaluation of autism), Behavior Rating Inventory of Executive Function-2 (BRIEF-2: evaluation of executive function), and Child Behavior Checklist (CBCL: evaluation of overall behavioral problems). Children underwent intelligence quotient (IQ) testing using the Wechsler Abbreviated Scale of Intelligence (WASI-II). RESULTS: There were 91 children (45 with metopic and 46 with sagittal synostosis). More children with metopic synostosis reported requiring supportive services (57.7% vs 34.7%, p = 0.02) and more reached or exceeded borderline clinical levels of two executive function subscales of the BRIEF-2 (emotion regulation index: 33.3% vs 17.4%, p = 0.05; global executive composite: 33.3% vs 17.4%, p = 0.05). Children with sagittal synostosis had higher scores on the rule-breaking and externalizing problem subscales of the CBCL. Increasing age at surgery was associated with worse executive function scores. CONCLUSIONS: A relationship between suture subtype and behavioral outcomes exists at school age. More children with metopic synostosis required social services indicating more overall difficulties. Children with metopic synostosis have more specific problems with executive function, while children with sagittal synostosis had more difficulties with externalizing behaviors.
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Craneosinostosis , Humanos , Craneosinostosis/psicología , Craneosinostosis/cirugía , Craneosinostosis/complicaciones , Masculino , Femenino , Niño , Función Ejecutiva/fisiología , Regulación Emocional/fisiología , Conducta Infantil/psicología , Conducta Infantil/fisiologíaRESUMEN
PURPOSE: Despite previous research supporting patient safety in sports after craniosynostosis surgery, parental anxiety remains high. This study sought to evaluate the role of healthcare providers in guiding patients and families through the decision-making process. METHODS: Parents of children with repaired craniosynostosis were asked to assess sports involvement and parental decision-making in children ages 6 and older. Questions were framed primarily on 5-point Likert scales. Sport categorizations were made in accordance with the American Academy of Pediatrics. Chi-squared, linear regression, and Pearson correlation tests were used to analyze associations between the questions. RESULTS: Forty-three complete parental responses were recorded. Mean ages at surgery and time of sports entry were 7.93 ± 4.73 months and 4.76 ± 2.14 years, respectively. Eighty-two percent of patients participated in a contact sport. Discussions with the primary surgeon were more impactful on parental decisions about sports participation than those with other healthcare providers (4.04 ± 1.20 vs. 2.69 ± 1.32). Furthermore, children whose parents consulted with the primary surgeon began participating in sports at a younger age (4.0 ± 1.0 vs. 5.8 ± 2.7 years, p = 0.034). The mean comfort level with contact sports (2.8 ± 1.4) was lower than that with limited-contact (3.8 ± 1.1, p = 0.0001) or non-contact (4.4 ± 1.3, p < 0.0001) sports. CONCLUSION: This study underscores the critical role that healthcare professionals, primarily surgeons, have in guiding families through the decision-making process regarding their children's participation in contact sports.
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Craneosinostosis , Toma de Decisiones , Padres , Deportes , Humanos , Craneosinostosis/cirugía , Craneosinostosis/psicología , Masculino , Padres/psicología , Femenino , Deportes/psicología , Niño , Preescolar , LactanteRESUMEN
PURPOSE: Nonsyndromic craniosynostosis (NSC) is associated with neurocognitive deficits, and intervention at infancy is standard of care to limit the negative effects of NSC on brain development. In this study, diffusion tensor imaging (DTI) was implemented to investigate white matter microstructure in infants with NSC undergoing cranial vault remodeling, and a comparison was made with white matter development in neurotypical controls. METHODS: Infants presenting with NSC (n = 12) underwent DTI scans before and after cranial vault remodeling. Neurotypical infants (n = 5), age matched to NSC patients at preoperative scans, were compared to preoperative DTI scans. Pre- and postoperative NSC scans were compared in aggregate, and the sagittal synostosis (n = 8) patients were evaluated separately. Finally, neurotypical infants from the University of North Carolina/University of New Mexico Baby Connectome Project (BCP), who underwent DTI scans at timepoints matching the NSC pre- and postoperative DTI scans, were analyzed (n = 9). Trends over the same time period were compared between NSC and BCP scans. RESULTS: No significant differences were found between preoperative NSC scans and controls. White matter development was more limited in NSC patients than in BCP patients, with microstructural parameters of the corpus body and genu and inferior and superior longitudinal fasciculi consistently lagging behind developmental changes observed in healthy patients. CONCLUSION: Infant white matter development appears more limited in NSC patients undergoing cranial vault remodeling relative to that in neurotypical controls. Further investigation is needed to explore these differences and the specific effects of early surgical intervention.
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Craneosinostosis , Sustancia Blanca , Lactante , Humanos , Imagen de Difusión Tensora/métodos , Craneosinostosis/cirugía , Cráneo/cirugía , Desarrollo Infantil , EncéfaloRESUMEN
Virtual surgical planning (VSP) has benefits in craniofacial surgery with growing popularity. However, while specific use cases are highlighted in the literature, no studies exist providing an overview of VSP use among craniofacial surgeons, and little is known about the extent of exposure to VSP during plastic surgery training. This study surveyed members of The American Society of Maxillofacial Surgeons (ASMS) to better characterize both the landscape of VSP use among practicing craniofacial surgeons and the extent of exposure to VSP throughout surgical training. An electronic survey was administered in the fall of 2023. Response data included surgeon demographics, VSP usage, including the use in residency/fellowship, procedures for which VSP is used, and assessment of VSP's impact on the surgeon's practice. Demographics and VSP use were analyzed using descriptive statistics, while categorical and continuous variables were analyzed using χ2 tests and t-tests, respectively. Of the 44 respondents, 40 (90.9%) completed a craniofacial surgery fellowship, and 18 (40.9%) utilized VSP in either residency or fellowship. In respondents' current practice, VSP is utilized most commonly for orthognathic surgery (n=32, 91.4%), postablative reconstruction (n=23, 82.1%), and facial feminization (n=11, 73.3%). Shorter operative time and improved esthetic outcomes were frequently reported as benefits derived from VSP use. Finally, surgeons in practice for less than 10 years were significantly more likely to have used VSP in both residency (OR=20.3, P<0.01) and in fellowship (OR=40.6, P<0.01) than those practicing for more than 10 years. These findings suggest that craniofacial surgeons apply VSP more commonly for certain procedure types. Our results additionally suggest that incorporation of VSP into residency and fellowship training has become significantly more common over time, with a pivot towards integration in the last decade.
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OBJECTIVE: While previous literature has investigated the psychosocial impact and aesthetic satisfaction associated with post-operative scarring for certain pediatric craniofacial conditions, the impact of the scar burden resulting from craniosynostosis surgery has not been adequately studied. PARTICIPANTS: SCAR-Q was shared with patients ages 8 and older. Thirty-two complete patient responses were recorded. INTERVENTIONS: SCAR-Q is a PROM that consists of three independent scales - appearance, symptoms, and psychosocial impact - associated with a scar. MAIN OUTCOME MEASURES: Mann-Whitney U, linear regression, and Pearson correlation tests were used to evaluate associations between the scales, in addition to patient characteristics such as sex and suture involvement. RESULTS: Mean ages at time of surgery and survey completion were 9.65 ± 10.10 months and 12.10 ± 3.92 years, respectively. Mean scale scores were 81.5 ± 17.9 for appearance, 86.8 ± 12.4 for symptoms, and 79.3 ± 25.7 for psychosocial impact. Higher patient dissatisfaction with scar appearance correlated with more scar-related symptoms (r = 0.389; p = 0.028) and a greater psychosocial impact (r = 0.725; p < 0.001). SCAR-Q scales did not significantly correlate with age at surgery, age at survey completion, type of synostosis, or type of surgery; however, female patients reported lower mean appearance (65.4 vs. 86.0; p = 0.012) and psychosocial impact (57.3 vs. 85.5; p = 0.010) scores when compared to their male counterparts. CONCLUSIONS: It is vital that surgeons discuss patients' aesthetic satisfaction following craniosynostosis surgery in order to appropriately address and limit deleterious, long-term physical and psychosocial outcomes.
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Lambdoid craniosynostosis (CS) is a congenital anomaly resulting from premature fusion of the cranial suture between the parietal and occipital bones. Predominantly sporadic, it is the rarest form of CS and its genetic etiology is largely unexplored. Exome sequencing of 25 kindreds, including 18 parent-offspring trios with sporadic lambdoid CS, revealed a marked excess of damaging (predominantly missense) de novo mutations that account for ~ 40% of sporadic cases. These mutations clustered in the BMP signaling cascade (P = 1.6 × 10-7), including mutations in genes encoding BMP receptors (ACVRL1 and ACVR2A), transcription factors (SOX11, FOXO1) and a transcriptional co-repressor (IFRD1), none of which have been implicated in other forms of CS. These missense mutations are at residues critical for substrate or target sequence recognition and many are inferred to cause genetic gain-of-function. Additionally, mutations in transcription factor NFIX were implicated in syndromic craniosynostosis affecting diverse sutures. Single cell RNA sequencing analysis of the mouse lambdoid suture identified enrichment of mutations in osteoblast precursors (P = 1.6 × 10-6), implicating perturbations in the balance between proliferation and differentiation of osteoprogenitor cells in lambdoid CS. The results contribute to the growing knowledge of the genetics of CS, have implications for genetic counseling, and further elucidate the molecular etiology of premature suture fusion.
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Craneosinostosis , Ratones , Animales , Craneosinostosis/genética , Craneosinostosis/metabolismo , Mutación , Transducción de Señal/genética , Factores de Transcripción/genética , Diferenciación Celular , Factores de Transcripción NFI/genética , Factores de Transcripción NFI/metabolismoRESUMEN
Reconstruction for microtia decreased psychosocial morbidity; timely referral for surgery is crucial. We evaluated specialist referrals for microtia at a major academic medical center. Only one-half of patients were evaluated at any point by a reconstructive craniofacial surgeon. Patients followed early for audiologic concerns may not be receiving timely referred for reconstruction.
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Microtia Congénita , Procedimientos de Cirugía Plástica , Humanos , Niño , Microtia Congénita/cirugíaRESUMEN
PURPOSE: Craniosynostosis, which describes premature fusion of one or more cranial sutures, has been associated with a variety of neurocognitive deficits. We sought to explore the cognitive profiles of the various types of single-suture, non-syndromic craniosynostosis (NSC). METHODS: A retrospective review of children 6-18 years old with surgically corrected NSC who underwent neurocognitive testing (Weschler Abbreviated Scale of Intelligence, Beery-Buktenica Developmental Test of Visuomotor Integration) from the years 2014-2022 was conducted. RESULTS: 204 patients completed neurocognitive testing (139 sagittal, 39 metopic, 22 unicoronal, 4 lambdoid suture). 110 (54%) of the cohort was male, and 150 (74%) were White. Mean IQ was 106.10±14.01 and mean age at surgery and testing were 9.0±12.2 months and 10.9±4.0 years, respectively. Sagittal synostosis was associated with higher scores than metopic synostosis, with significant differences in verbal IQ (109.42±15.76 vs 101.37±10.41), full-scale IQ (108.32±14.44 vs 100.05±11.76), visuomotor integration (101.62±13.64 vs 92.44±12.07), visual perception (103.81±12.42 vs 95.87±11.23), and motor coordination (90.45±15.60 vs 84.21±15.44). Sagittal synostosis was associated with significantly higher scores for visuomotor integration (101.62±13.64 vs 94.95±10.24) and visual perception (103.81±12.42 vs 94.82±12.75) than unicoronal synostosis. CONCLUSIONS: Compared to patients with sagittal synostosis, patients with metopic synostosis exhibited lower scores in verbal IQ, full-scale IQ, visuomotor integration, visual perception, and motor control after surgical correction. Despite surgical correction for premature metopic suture fusion, the effect on the adjacent frontal lobe and white matter connections to other regions of the brain may have a lasting functional impact. Patients with unicoronal synostosis exhibited lower visuomotor integration and visual perception scores.
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Craneosinostosis , Niño , Humanos , Masculino , Lactante , Adolescente , Craneosinostosis/complicaciones , Craneosinostosis/cirugía , Suturas Craneales/cirugía , Encéfalo/cirugía , Craneotomía , SuturasRESUMEN
BACKGROUND: Facial feminization surgery (FFS) consists of multiple, complex procedures. Well-informed patients have been shown to have better outcomes and expectations. However, there is limited data evaluating FFS patient-oriented material online. This study aims to evaluate the quality and readability of FFS literature online. METHODS: Facial feminization surgery-related terms were queried in Google with location, cookies, and user account information disabled. Websites were analyzed for readability using Flesch Reading Ease and Flesch-Kincaid Reading Grade Level, suitability using the suitability assessment of materials (SAM), and quality using the DISCERN scale. Unpaired t tests and χ2 tests were used to compare the websites of community-based and academic or public institutions. RESULTS: One hundred twenty websites met inclusion criteria (71 community-based and 49 academic). The average reading grade level was 11.68 ± 1.71. The average SAM score was 53.11 ± 11.75, denoting adequate readability. Only 16.67% of websites contained visual aids to assist in explaining procedures and benefits. Overall, 68.33% of websites' DISCERN score was rated very poor or poor, whereas only 8.33% were rated as good. The following DISCERN elements had the lowest scores across all graded websites: "clear source and date of information," "details of additional source of support," "refers to areas of uncertainty," and "describes risks of each treatment." Websites published by community-based institutions were significantly better in describing how FFS works and the benefits of each procedure. Academic sites overall were less biased (4.84 vs 4.62, P = 0.03) and provided additional sources of support (2.35 vs 1.32, P = <0.001). CONCLUSIONS: Online FFS patient resources should be written at a more inclusive reading level and should increase the use of pictorial aids to improve patient comprehension. Facial feminization surgery patient resources were significantly above the recommended sixth grade reading level for health literature. Academic and community-based institutions should include more information about procedural risks and limitations in surgical outcomes to ensure a broader scope of understanding.
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Comprensión , Feminización , Humanos , Masculino , Cara , Incertidumbre , EscrituraRESUMEN
Unilateral lambdoid synostosis is the rarest form of single-suture craniosynostosis. Although various surgical approaches have been described, cranial vault remodeling remains the predominant approach. To aid in surgical planning, preoperative virtual surgical modeling using a patient's presenting computed tomography scan can be used to increase reconstructive precision and to reduce operative time. Presented is a 7-month-old male with unilateral lambdoid synostosis who underwent medically modeled cranial vault reconstruction.
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Craneosinostosis , Cráneo , Humanos , Masculino , Lactante , Cráneo/cirugía , Craneosinostosis/diagnóstico por imagen , Craneosinostosis/cirugía , Procedimientos Neuroquirúrgicos/métodos , Tomografía Computarizada por Rayos X/métodos , Diseño Asistido por Computadora , Suturas Craneales/diagnóstico por imagen , Suturas Craneales/cirugíaRESUMEN
Sex diversity among plastic surgery and its subspecialties faculties lags behind many medical specialties. Despite the significant evidence in favor of diversity in leadership, female presence in high-ranking positions in medicine is lacking across multiple specialties. In this study, we aim to evaluate sex disparity among faculty across craniofacial fellowship programs by comparing the disparities among total number of faculty, program directors, years in practice, and academic rank. Our sample included 354 individuals including 193 craniofacial surgery journal editorial board members, 130 craniofacial surgery academic faculty members, and 31 craniofacial surgery association board members. A significant difference (P-value <0.0001) was seen among male and female craniofacial surgery faculty with 84.6% males. Faculty members were further subdivided by academic rank. A significant difference was found between the number of male and female faculty members at all academic positions (P-value =0.043). Of 41 full professors, 2.4% were female. There were 42 associate professors queried with 14.3% female. Similarly, 43 assistant professors were identified with 32.0% female. Years in practice after completing terminal training were analyzed across the academic faculty. There was a significant difference in the number of male and female faculty members across all experience levels (P-value =0.0037). Among the faculty with <10 years since completion of terminal training, 32.4 % were female. For faculty with 10 to 20 years after post-terminal training, 19.6% were female. For those with 20 to 30 years of experience, 0% were female. Finally, for the faculty with over 30 years since graduation, 5.9% were female. Board membership in 2 craniofacial surgery organizations was analyzed: the American Cleft Palate-Craniofacial Association and the American Society of Maxillofacial Surgeons. Among the 17 board members of the American Cleft Palate-Craniofacial Association, 8 (47.1%) were female. For the American Society of Maxillofacial Surgeons, 5 (35.7%) were female. Data were collected for 193 editorial board members from 2 craniofacial surgery journals. There was a significant difference between the number of male and female members across both journals (χ2 value: 33.3570; P-value <0.0001). Among 56 editorial board members from Cleft Palate-Craniofacial Journal, 26 (46.4%) members were female. In comparison, Journal of Craniofacial Surgery has 24.8% female editorial board members. Sex diversity among faculty members is really important and should be brought into light to highlight and improve areas of particular importance and of tremendous potential impact. Given our results, surgical residencies and fellowship programs should begin to show concrete commitment and increase their efforts to recruit and retain a diverse faculty not only for the educational benefit but more importantly to achieve a higher level of care for all.
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Fisura del Paladar , Internado y Residencia , Cirugía Plástica , Humanos , Masculino , Estados Unidos , Femenino , Docentes Médicos , BecasRESUMEN
Tranexamic acid (TXA) has been increasingly utilized in orthognathic surgery, aesthetic surgery, and craniofacial surgery. However, the risk of increasing venous thromboembolic events (VTE) must be carefully considered as TXA is a prothrombotic agent. Our study aimed to investigate the safety of TXA in the setting of facial feminization surgery. These patients are at an elevated risk for VTE at baseline given their uniform history of exogenous estrogen supplementation. A retrospective review of all patients that underwent facial feminization surgery at our medical center between December 2015 and September of 2022 was performed. Demographic information, procedure type, Caprini scores, hematoma rate, VTE rate, estimated blood loss, and operative time were all studied. Unpaired t tests were used to compare patients that received TXA and those who did not. In total, there were 79 surgeries performed during our study period. There were 33 surgeries (41.77%) that used TXA intraoperatively. Ten patients (12.65%) received anticoagulation postoperatively, 5 of whom received TXA intraoperatively. Of the 33 patients who received TXA, 30 patients remained on estrogen therapy. There was no statistically significant difference in VTE rates in patients who received TXA (n=33, 41.77%) and those who did not (n=46, 58.23%). Bleeding events, Caprini scores, estimated blood loss, and operative time were also not found to be significantly different between the 2 cohorts. The authors found no significant increase in VTE in facial feminization patients undergoing estrogen supplementation when intraoperative TXA was utilized. This is the first known report investigating the safety of TXA in this higher risk patient population.
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Antifibrinolíticos , Ácido Tranexámico , Tromboembolia Venosa , Masculino , Humanos , Ácido Tranexámico/uso terapéutico , Antifibrinolíticos/uso terapéutico , Tromboembolia Venosa/inducido químicamente , Tromboembolia Venosa/epidemiología , Feminización , Estética Dental , Estrógenos/uso terapéutico , Suplementos Dietéticos , Estudios Retrospectivos , Pérdida de Sangre Quirúrgica/prevención & controlRESUMEN
Facial feminization surgery (FFS) is characterized by a series of relatively diverse procedures aimed at aligning skeletal and soft tissue facial appearance with one's experienced feminine gender. Although there are several well-described outcomes from surgical techniques, there is no standardized methodology to provide reliable analyses of postoperative FFS outcomes. This paper describes the first reliable and reproducible technique to accurately and consistently measure post-FFS changes to guide surgical planning to optimize patient outcomes.
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OBJECTIVE: Moderate to severe cases of deformational plagiocephaly (DP) may be treated with cranial remolding orthoses (CRO). This study investigated the socioeconomic disparities in access to care for CRO for DP correction. DESIGN: This was a retrospective review of medical records from a single CRO company in Connecticut from 2014 to 2020. METHODS: Demographic variables were collected from all patients. Univariable logistic regressions were used to identify differences for presenting age at consultation, whether CRO was pursued, and length of CRO treatment by insurance payor and household income quartile. RESULTS: Of the 5620 patients identified, 4100 (73.0%) received CRO, with 674 (12.0%) receiving a second helmet. Of those receiving CRO, 1536 (37.5%) had Medicaid insurance while 2558 (62.4%) were commercially insured. Patients on Medicaid were 1.30 times more likely to have delayed presentation (P = .017), while patients from the lowest income quartile were 1.26 1.50 (P < .001) and 1.58 (P < .001) times more likely to have a delayed presentation relative to those in the highest and second-highest income quartiles, respectively. Patients in the highest and second-highest income quartiles were also 1.55 (P < .001) and 1.45 (P < .001) more likely, respectively, to receive CRO after consultation than those from the lowest income quartile. CONCLUSIONS: Lower income and Medicaid-insured patients had delayed presentation for CRO consultation. Those from the lowest income quartile were more likely to never receive CRO than those from wealthier backgrounds. Low socioeconomic status and Medicaid insurance, which can have more restrictive coverage policies for CRO, may result in the delayed treatment of DP.
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Plagiocefalia no Sinostótica , Estados Unidos , Humanos , Lactante , Plagiocefalia no Sinostótica/terapia , Estudios Retrospectivos , Modelos Logísticos , Aparatos Ortopédicos , RentaRESUMEN
OBJECTIVE: Deformational Plagiocephaly (DP) is commonly treated with cranial orthosis, or helmet therapy. A large, national study on the impact of insurance status on helmet outcomes is lacking. We assessed treatment outcomes for helmet therapy based on insurance status. DESIGN: This was a retrospective data analysis of patients referred to Cranial Technologies, Inc for helmet therapy between 2014-2020 across 21 states. PATIENTS, PARTICIPANTS: There were a total of 211,417 patients referred for helmeting, of whom 141,513 received helmet therapy. MAIN OUTCOMES MEASURES: Multivariate regression was used to assess the relationship of insurance status with post-treatment residual flattening, measured by cephalic index (CI) and cranial vault asymmetry index (CVAI), and treating provider rating of success. RESULTS: Patients with Medicaid were more likely to complete treatment with residual flattening measured by CI and CVAI when compared to patients with private insurance (OR: 1.58, CI: 1.51-1.65, p < 0.001 and OR: 1.21, CI: 1.15-1.28, p < 0.001, respectively). Providers of patients with Medicaid were more likely to give a low rating of success following treatment (OR: 3.25, CI: 2.70-3.92, p < 0.001). CONCLUSIONS: Our study investigating the impact of insurance status on helmet therapy across 21 states found that patients with Medicaid were more likely to experience residual flattening and have lower provider-rated outcomes compared to those with commercial insurance. Given significant caregiver burden posed by helmet therapy, which requires frequent visits and consistent helmet use, caregivers of patients with Medicaid may require greater support to reduce outcome disparities observed here.
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AIM: To assess the relationship of surface area of the cerebral cortex to intracranial volume (ICV) in syndromic craniosynostosis. METHOD: Records of 140 patients (64 males, 76 females; mean age 8y 6mo [SD 5y 6mo], range 1y 2mo-24y 2mo) with syndromic craniosynostosis were reviewed to include clinical and imaging data. Two hundred and three total magnetic resonance imaging (MRI) scans were evaluated in this study (148 patients with fibroblast growth factor receptor [FGFR], 19 patients with TWIST1, and 36 controls). MRIs were processed via FreeSurfer pipeline to determine total ICV and cortical surface area (CSA). Scaling coefficients were calculated from log-transformed data via mixed regression to account for multiple measurements, sex, syndrome, and age. Educational outcomes were reported by syndrome. RESULTS: Mean ICV was greater in patients with FGFR (1519cm3 , SD 269cm3 , p=0.016) than in patients with TWIST1 (1304cm3 , SD 145cm3 ) or controls (1405cm3 , SD 158cm3 ). CSA was related to ICV by a scaling law with an exponent of 0.68 (95% confidence interval [CI] 0.61-0.76) in patients with FGFR compared to 0.81 (95% CI 0.50-1.12) in patients with TWIST1 and 0.77 (95% CI 0.61-0.93) in controls. Lobar analysis revealed reduced scaling in the parietal (0.50, 95% CI 0.42-0.59) and occipital (0.67, 95% CI 0.54-0.80) lobes of patients with FGFR compared with controls. Modified learning environments were needed more often in patients with FGFR. INTERPRETATION: Despite adequate ICV in FGFR-mediated craniosynostosis, CSA development is reduced, indicating maldevelopment, particularly in parietal and occipital lobes. Modified education is also more common in patients with FGFR.
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Corteza Cerebral/anomalías , Craneosinostosis/complicaciones , Malformaciones del Desarrollo Cortical/etiología , Adolescente , Corteza Cerebral/diagnóstico por imagen , Niño , Preescolar , Craneosinostosis/diagnóstico por imagen , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Malformaciones del Desarrollo Cortical/diagnóstico por imagen , Adulto JovenRESUMEN
Craniosynostosis (CS) is a frequent congenital anomaly featuring the premature fusion of 1 or more sutures of the cranial vault. Syndromic cases, featuring additional congenital anomalies, make up 15% of CS. While many genes underlying syndromic CS have been identified, the cause of many syndromic cases remains unknown. We performed exome sequencing of 12 syndromic CS cases and their parents, in whom previous genetic evaluations were unrevealing. Damaging de novo or transmitted loss of function (LOF) mutations were found in 8 genes that are highly intolerant to LOF mutation (P = 4.0 × 10-8); additionally, a rare damaging mutation in SOX11, which has a lower level of intolerance, was identified. Four probands had rare damaging mutations (2 de novo) in TFAP2B, a transcription factor that orchestrates neural crest cell migration and differentiation; this mutation burden is highly significant (P = 8.2 × 10-12). Three probands had rare damaging mutations in GLI2, SOX11, or GPC4, which function in the Hedgehog, BMP, and Wnt signaling pathways; other genes in these pathways have previously been implicated in syndromic CS. Similarly, damaging de novo mutations were identified in genes encoding the chromatin modifier KAT6A, and CTNNA1, encoding catenin α-1. These findings establish TFAP2B as a CS gene, have implications for assessing risk to subsequent children in these families, and provide evidence implicating other genes in syndromic CS. This high yield indicates the value of performing exome sequencing of syndromic CS patients when sequencing of known disease loci is unrevealing.
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Craneosinostosis/genética , Glipicanos/genética , Histona Acetiltransferasas/genética , Mutación , Proteínas Nucleares/genética , Factores de Transcripción SOXC/genética , Factor de Transcripción AP-2/genética , Proteína Gli2 con Dedos de Zinc/genética , alfa Catenina/genética , Adolescente , Niño , Preescolar , Craneosinostosis/diagnóstico , Craneosinostosis/patología , Exoma , Femenino , Expresión Génica , Humanos , Masculino , Linaje , Medición de Riesgo , Transducción de Señal , Cráneo/anomalías , Cráneo/crecimiento & desarrollo , Cráneo/metabolismo , Secuenciación del ExomaRESUMEN
Facial trauma accounts for over 3 million emergency room encounters each year in the United States and places significant financial burden on the health care system and surgeons. However, data on facial trauma call practices among plastic surgeons are lacking. We surveyed members of the American Society of Maxillofacial Surgeons (ASMS) regarding their experience with facial trauma call. A 27-question online survey was distributed through e-mail to ASMS members. Forty-five ASMS members completed the survey, of whom 64% were required to take facial trauma call and 44% were compensated for call. Respondents in the North-East were less likely [odds ratio (OR): 0.234, confidence interval (CI), 0.054-1.015; P =0.052] to be compensated for taking call, whereas those who worked at level 1 trauma centers were more likely odds ratio: 5.42, CI, 0.892-32.89; P =0.066) to be compensated. Surgeons required to take facial trauma call were 4.646 (CI, 1.203-17.944; P =0.026) times more likely to take call ≥5 days per month. These results highlight a relatively low proportion of plastic surgeons receiving additional compensation for facial trauma call while work at a level 1 trauma center was associated with higher likelihood of compensation. Surgeons in the Northeast may be compensated less frequently than other regions. Plastic surgeons should be aware of these trends, as they decide how to incorporate facial trauma call into their practice.
Asunto(s)
Traumatismos Faciales , Cirugía Bucal , Cirugía Plástica , Estados Unidos , Humanos , Traumatismos Faciales/cirugía , Cirujanos Oromaxilofaciales , Centros Traumatológicos , Encuestas y CuestionariosRESUMEN
OBJECTIVE: Previous studies have explored the restricted nasopharyngeal airway in Apert syndrome patients. This study aims to investigate the segmented airway volume changes with age and directly analyze their correlations with subcranial dimensions and angulations. METHODS: Ninety-seven preoperative computed tomography scans (Apert, n = 44; control, n = 53) were included in this study, and divided into 5 age-related subgroups. Computed tomography scans were measured using Mimics and 3-matics software. RESULTS: Before 6 months of age, the nasal cavity in Apert syndrome is reduced by 47% (P = 0.002), which gradually approximates normal thereafter; however, there remained a 30% reduction, compared with controls. It is highly correlated with the anteroposterior length of subcranial space, and the position of maxilla and palate. The pharyngeal airway volume in Apert syndrome patients, younger than 6 months, was larger than normal by 129% (P = 0.013). However, between 2 and 6 years of age, the pharyngeal airway becomes smaller than normal, with a 57% (P = 0.010) reduction in childhood and 52% (P = 0.005) in adolescence. It is closely correlated with the intercondylar and intergonial widths. CONCLUSIONS: Airway compromise in Apert syndrome patients is attributable more to the nasal cavity in infants, but in the older child, it is the pharyngeal region. The restricted nasal airway in Apert syndrome is correlated with the subcranial space length and width, but independent of cranial base flexion. The pharyngeal airway volume in Apert syndrome is not as highly correlated with craniofacial morphology. Rather, it is impacted by the growth of mandible, which often requires surgical intervention later in childhood.