Publications by authors named "Persing J"

Objective: While studies have shown that access to facial feminization surgery can be restricted by financial and geographic limitations, there is a lack of information on the impact of surgery on the most vulnerable patients. Therefore, this study assessed the impact of social vulnerability and neighborhood socioeconomic disadvantage on patient-reported outcomes after facial feminization surgery.

Methods: Patients were surveyed pre and postoperatively using the FACE-Q Aesthetics Questionnaire and geo-coded using home addresses to obtain social vulnerability index (SVI) and Area Deprivation Index scores.

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Purpose: Facial feminization surgery (FFS) is associated with improved psychological outcomes in transgender patients. We aimed to evaluate the impact of FFS on patient satisfaction with facial appearance using validated, patient-reported outcome tools.

Methods: Patients were recruited to complete a FACE-Q survey at least 6 months after their FFS.

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Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

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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.

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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.

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Objective: Occurring once in every 2000 live births, craniosynostosis (CS) is the most frequent cranial birth defect. Although the genetic etiologies of syndromic CS cases are well defined, the genetic cause of most nonsyndromic cases remains unknown.

Methods: The authors analyzed exome or RNA sequencing data from 876 children with nonsyndromic CS, including 291 case-parent trios and 585 additional probands.

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Background: Children with metopic synostosis have been found to have more neurocognitive and behavioral difficulties. The variables that may affect future neurodevelopmental outcomes, including presenting morphologic severity, have not been fully studied. In the largest study to date, we aimed to assess what portends worse neurocognitive and behavioral outcomes at school age.

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Objective: Previous work identified an association between genetics and neurodevelopmental delays in patients with nonsyndromic craniosynostosis. The authors investigated the role of genetic mutations on behavioral outcomes of patients with treated sagittal synostosis.

Methods: Parents of children aged 6-18 years with surgically corrected sagittal synostosis were recruited to complete the Child Behavioral Checklist (overall behavioral problems), Conners 3rd Edition-Parent (attention-deficit/hyperactivity disorder), Social Responsiveness Scale 2nd Edition (autism spectrum disorder [ASD]), and Behavior Rating Inventory of Executive Function 2nd Edition (executive function).

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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.

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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.

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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.

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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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Background: Facial feminization surgery (FFS) has been associated with improving gender dysphoria in transgender patients. This study aimed to quantify the impact of surgery on patient facial satisfaction, using the FACE-Q and a quality-of-life (QoL) survey.

Methods: Transgender female patients were recruited to complete the FACE-Q and the World Health Organization's QoL Scale-Short Form (WHOQOL-BREF) if they were planning to or had undergone FFS at our institution.

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Article Synopsis
  • This study investigates how the severity of metopic synostosis, measured by artificial intelligence, impacts long-term neurocognitive outcomes in children.
  • Results show that greater severity correlates with lower reading comprehension and that older age at surgery is linked to poorer visuomotor integration scores.
  • The findings suggest that timely surgical correction might help address neurodevelopmental challenges associated with the condition.
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Article Synopsis
  • - The study evaluates the quality and readability of online resources about Facial Feminization Surgery (FFS), aiming to improve patient understanding and outcomes.
  • - Analyzing 120 websites revealed that the average readability was at an 11.68 grade level, with most sites rated poorly on important quality metrics, such as clarity and support resources.
  • - Community-based websites tended to provide clearer descriptions of FFS processes and benefits, but academic sites were less biased and offered more support information.
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  • Tranexamic acid (TXA) is often used in surgeries like facial feminization but raises concerns about potential venous thromboembolic events (VTE) due to its prothrombotic nature.
  • A study reviewed 79 facial feminization surgeries conducted between 2015 and 2022, focusing on patients' demographics, surgical procedures, and outcomes related to TXA usage and anticoagulation.
  • The findings indicated no significant increase in VTE rates or other complications between patients who received TXA and those who didn't, suggesting it may be safe for use in patients with a history of estrogen supplementation.
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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.

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Article Synopsis
  • The study investigates the link between genetic mutations and neurocognitive delays in children with nonsyndromic craniosynostosis (NSC).
  • It compares test scores of children with high-risk mutations to those without, considering factors like age and surgery type.
  • Results show that children with high-risk mutations performed worse in cognitive tests, indicating these mutations negatively affect intelligence and visuomotor skills, regardless of surgery type.
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Article Synopsis
  • The study investigates cognitive outcomes in children aged 6-18 who underwent surgery for non-syndromic craniosynostosis, focusing on different types such as sagittal, metopic, and unicoronal synostosis.
  • A total of 204 children were tested, with results indicating that those with sagittal synostosis performed better in various cognitive measures, including verbal IQ and visuomotor integration, compared to those with metopic synostosis.
  • The findings suggest that even after surgical correction for craniosynostosis, some cognitive deficits may persist, particularly in children with metopic and unicoronal synostosis due to potential effects on brain structure.
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Background: The neurodevelopmental effects of skull asymmetry and orthotic helmet therapy for deformational plagiocephaly (DP) have had limited investigation. This study assessed the long-term neurocognitive outcomes in patients with DP and their association with orthotic helmet therapy and head shape abnormality.

Methods: A total of 138 school-age children with a history of DP, 108 of whom received helmet therapy, were tested with a neurocognitive battery assessing academic achievement, intelligence quotient, and visual-motor function.

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Article Synopsis
  • - Reconstruction for microtia significantly reduces psychosocial issues for patients, highlighting its importance for mental health and well-being.
  • - At a major medical center, only about 50% of patients with microtia were seen by a reconstructive craniofacial surgeon at any stage.
  • - There is concern that patients who are monitored early for hearing problems are not being referred promptly for reconstructive surgery.
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Article Synopsis
  • Unilateral lambdoid synostosis is the least common type of single-suture craniosynostosis, which involves premature fusion of a skull suture.
  • The primary surgical method for correction is cranial vault remodeling, with advances in preoperative virtual surgical modeling enhancing surgical planning and efficiency.
  • A case study is presented involving a 7-month-old boy who successfully had cranial vault reconstruction using medically modeled techniques.
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  • Helmet therapy is crucial for treating deformational plagiocephaly, but access to this treatment can be limited, especially for patients with Medicaid.
  • A retrospective study analyzed data from 219,869 referrals between 2014 and 2020, finding that Medicaid patients were less likely to receive helmets and more likely to experience delayed treatment.
  • The study revealed significant regional variations in access, with some states showing better access for Medicaid patients, but overall delays and late presentations were consistent across all states, suggesting that state-specific Medicaid policies influence treatment availability.
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Article Synopsis
  • A study analyzed the effects of insurance status on the treatment outcomes of helmet therapy for Deformational Plagiocephaly (DP) using data from over 211,000 patients.
  • Findings revealed that Medicaid recipients were more likely to have residual head flattening post-treatment compared to those with private insurance.
  • Additionally, providers rated the success of helmet therapy lower for Medicaid patients, suggesting that caregivers of these patients may need more support to improve outcomes.
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