Identification of gene networks mediating regional resistance to tauopathy in late-onset Alzheimer's disease.

Neurofibrillary lesions composed of tau protein aggregates are defining hallmarks of Alzheimer's Disease. Despite tau filaments appearing to spread between networked brain regions in a prion-like manner, certain areas including cerebellum resist trans-synaptic spread of tauopathy and degeneration of their constituent neuronal cell bodies. To identify molecular correlates of resistance, we derived and implemented a ratio of ratios approach for disaggregating gene expression data on the basis of regional vulnerability to tauopathic neurodegeneration. When applied to vulnerable pre-frontal cortex as an internal reference for resistant cerebellum, the approach segregated adaptive changes in expression into two components. The first was enriched for neuron-derived transcripts associated with proteostasis including specific members of the molecular chaperone family and was unique to resistant cerebellum. When produced as purified proteins, each of the identified chaperones depressed aggregation of 2N4R tau in vitro at sub-stoichiometric concentrations, consistent with the expression polarity deduced from ratio of ratios testing. In contrast, the second component enriched for glia- and microglia-derived transcripts associated with neuroinflammation, segregating these pathways from susceptibility to tauopathy. These data support the utility of ratio of ratios testing for establishing the polarity of gene expression changes with respect to selective vulnerability. The approach has the potential to identify new targets for drug discovery predicated on their ability to promote resistance to disease in vulnerable neuron populations.

Cranial bone imaging using ultrashort echo-time bone-selective MRI as an alternative to gradient-echo based "black-bone" techniques.

OBJECTIVES: CT is the clinical standard for surgical planning of craniofacial abnormalities in pediatric patients. This study evaluated three MRI cranial bone imaging techniques for their strengths and limitations as a radiation-free alternative to CT. METHODS: Ten healthy adults were scanned at 3 T with three MRI sequences: dual-radiofrequency and dual-echo ultrashort echo time sequence (DURANDE), zero echo time (ZTE), and gradient-echo (GRE). DURANDE bright-bone images were generated by exploiting bone signal intensity dependence on RF pulse duration and echo time, while ZTE bright-bone images were obtained via logarithmic inversion. Three skull segmentations were derived, and the overlap of the binary masks was quantified using dice similarity coefficient. Craniometric distances were measured, and their agreement was quantified. RESULTS: There was good overlap of the three masks and excellent agreement among craniometric distances. DURANDE and ZTE showed superior air-bone contrast (i.e., sinuses) and soft-tissue suppression compared to GRE. DISCUSSIONS: ZTE has low levels of acoustic noise, however, ZTE images had lower contrast near facial bones (e.g., zygomatic) and require effective bias-field correction to separate bone from air and soft-tissue. DURANDE utilizes a dual-echo subtraction post-processing approach to yield bone-specific images, but the sequence is not currently manufacturer-supported and requires scanner-specific gradient-delay corrections.

Severity of Mandibular Dysmorphology in Treacher Collins Syndrome for Stratification of Perioperative Airway Risk.

BACKGROUND: Patients with Treacher Collins syndrome (TCS) and attendant airway dysmorphology may be predisposed to airway complications in the perioperative period. However, limited data correlates severity of mandibular hypoplasia and airway status. This study aims to improve risk stratification for perioperative airway insufficiency in TCS by using a previously proposed mandibular severity index. METHODS: Patient demographics, perioperative airway status, difficulty of intubation, and Cormack Lehane grade were collected and compared using a TCS mandibular hypoplasia severity grading scale in patients with TCS treated between 2000 and 2022. RESULTS: Twenty-six patients underwent 222 procedures with institutional mandibular severity gradings as follows: 23% Grade I, 31% Grade II, 39% Grade III, 8% Grade IV. Our severity index was associated with intubation difficulty ( P <0.001) and difficult airway status ( P <0.001), with 72% of difficult airways found in grade III and grade IV patients. Mandibular retrusion and ramal hypoplasia subscores were positively correlated with measures of airway severity ( P <0.001), whereas the gonial angle was negatively correlated ( P <0.001). Age was negatively correlated with difficult visualization for endotracheal intubation ( P =0.02) but had no association with difficult airway status ( P =0.2). CONCLUSIONS: This study found a positive correlation between severity of maxillomandibular dysmorphology and perioperative airway difficulty in TCS patients. Our findings suggest that severely affected patients require heightened vigilance throughout life, as difficult airways may not completely resolve with aging. Given the risk of morbidity and mortality associated with airway complications, proper identification and preparation for challenging airways is critical for TCS patients.

Changes in Ventricular Volume After Posterior Vault Distraction Osteogenesis in Patients With Syndromic and Nonsyndromic Craniosynostosis.

OBJECTIVE: Little is known about the response of the ventricular system to cranial vault surgery in patients with craniosynostosis. This study aims to evaluate the changes in the cerebral ventricular system in response to posterior vault distraction osteogenesis (PVDO) in patients with syndromic and nonsyndromic craniosynostosis. METHODS: A single-institution retrospective review of all patients with craniosynostosis undergoing PVDO from 2000 to 2022 was completed. Patients were included for analysis if they had pre and postoperative cranial computed tomography scans. Ventricular volume (VV) and intracranial volume (ICV) were calculated using segmentation software. RESULTS: Both patients with syndromic synostosis and nonsyndromic synostosis (NSS) experienced a significant increase in ICV after PVDO, but only patients with NSS experienced a significant VV change (P = 0.004). After normalization by ICV, total, lateral, and third VV changes retained significance with percentage increases of 114%, 117%, and 89%, respectively (P < 0.05 for all). CONCLUSION: The differing results between cohorts reinforce the concept that the intracranial milieu is different between patients with syndromic synostosis and NSS. The results of the NSS cohort suggest that these patients may exist in a compensated state in which a reduction in cerebral blood flow and VV allows for the maintenance of parenchymal health to prevent the development of intracranial hypertension. Further studies may explore VV as a surrogate marker of ICP elevation, and the utility of cranial vault remodeling on nonsynostotic pathologies with cephalocranial disproportion.

LeFort III Versus Monobloc Frontofacial Advancement: A Comparative Analysis of Soft Tissue Changes.

INTRODUCTION: The LeFort III and monobloc are commonly used midface advancement procedures for patients with syndromic craniosynostosis with well characterized postoperative skeletal changes. However, the differential effects of these procedures on facial soft tissues are less understood. The purpose of this study was to critically analyze and compare the effects of these 2 procedures on the overlying soft tissues of the face. METHODS: Frontal and lateral preoperative and postoperative photographs of patients undergoing monobloc or LeFort III were retrospectively analyzed using ImageJ to measure soft tissue landmarks. Measurements included height of facial thirds, nasal length and width, intercanthal distance, and palpebral fissure height and width. Facial convexity was quantified by calculating the angle between sellion (radix), subnasale, and pogonion on lateral photographs. RESULTS: Twenty-five patients with an average age of 6.7 years (range 4.8-14.5) undergoing monobloc (n=12) and LeFort III (n=13) were identified retrospectively and analyzed preoperatively and 6.4±3.6 months postoperatively. Patients undergoing LeFort III had a greater average postoperative increase in facial convexity angle acuity (28.2°) than patients undergoing monobloc (17.8°, P =0.021). Patients in both groups experience postoperative increases in nasal width ( P <0.001) and decreases in palpebral fissure height ( P <0.001). CONCLUSIONS: Both subcranial LeFort III advancements and monobloc frontofacial advancements resulted in significant changes in the soft tissues. Patients undergoing LeFort III procedures achieved greater acuity of the facial convexity angle, likely because the nasion is not advanced with the LeFort III segment.

Sociodemographic Factors Predict Long-Term Attrition from Multidisciplinary Cleft Clinic.

OBJECTIVE: Identify and describe factors associated with retention and attrition of patients during longitudinal follow-up at multidisciplinary cleft clinic. DESIGN: Retrospective cohort study. SETTING: Single, tertiary care center. PATIENTS, PARTICIPANTS: Patients born between 1995 and 2007 with a diagnosis of cleft palate with or without cleft lip attending multidisciplinary cleft clinic. INTERVENTIONS: None tested, observational study. MAIN OUTCOME MEASURE(S): Age at last clinical appointment with a multidisciplinary cleft team provider. Attrition was defined as absence of an outpatient appointment following 15 years of age. RESULTS: Six hundred seventy-eight patients were included. The average age at last appointment across the entire cohort was 13.1 years (IQR 6.6-17.2). Patients who were Black (HR 1.60, 95% CI 1.10-2.32, p = 0.014) and other races (HR 1.90, 95% CI 1.22-2.98, p = 0.004) were more likely to be lost to follow-up compared to white patients. Publicly insured patients were more likely to experience attrition than those who were privately insured (HR 1.30, 95% CI 1.03-1.65, p = 0.030). Estimated income was not significantly associated with length of follow-up (p = 0.259). Those whose residence was in the fourth quartile of driving distance from our center experienced loss to follow-up significantly more than those who lived the closest (HR 2.04, 95% CI 1.50-2.78, p < 0.001). CONCLUSIONS: There is a high degree of follow-up attrition among patients with cleft lip and palate. Race, insurance status, and driving distance to our center were associated with attrition in a large, retrospective cohort of patients who have reached the age of cleft clinic graduation.

Incomes to Outcomes: A Global Assessment of Disparities in Cleft and Craniofacial Treatment.

OBJECTIVE: Recent investigations focused on health equity have enumerated widespread disparities in cleft and craniofacial care. This review introduces a structured framework to aggregate findings and direct future research. DESIGN: Systematic review was performed to identify studies assessing health disparities based on race/ethnicity, payor type, income, geography, and education in cleft and craniofacial surgery in high-income countries (HICs) and low/middle-income countries (LMICs). Case reports and systematic reviews were excluded. Meta-analysis was conducted using fixed-effect models for disparities described in three or more studies. SETTING: N/A. PATIENTS: Patients with cleft lip/palate, craniosynostosis, craniofacial syndromes, and craniofacial trauma. INTERVENTIONS: N/A. RESULTS: One hundred forty-seven articles were included (80% cleft, 20% craniofacial; 48% HIC-based). Studies in HICs predominantly described disparities (77%,) and in LMICs focused on reducing disparities (42%). Level II-IV evidence replicated delays in cleft repair, alveolar bone grafting, and cranial vault remodeling for non-White and publicly insured patients in HICs (Grades A-B). Grade B-D evidence from LMICs suggested efficacy of community-based speech therapy and remote patient navigation programs. Meta-analysis demonstrated that Black patients underwent craniosynostosis surgery 2.8 months later than White patients (P < .001) and were less likely to undergo minimally-invasive surgery (OR 0.36, P = .002). CONCLUSIONS: Delays in cleft and craniofacial surgical treatment are consistently identified with high-level evidence among non-White and publicly-insured families in HICs. Multiple tactics to facilitate patient access and adapt multi-disciplinary case in austere settings are reported from LMICs. Future efforts including those sharing tactics among HICs and LMICs hold promise to help mitigate barriers to care.

Psychosocial Status and Self-Perception in Patients with Cleft Lip and/or Palate.

OBJECTIVE: To describe how the psychosocial status of patients with cleft lip and/or palate (CL/P) relates to patient-reported outcomes (PROs). DESIGN: Cross-sectional retrospective chart review. SETTING: Tertiary care pediatric hospital. PATIENTS/PARTICIPANTS: Patients aged 8 to 29 years attending cleft team evaluations during a 1-year period. MAIN OUTCOME MEASURES: CLEFT-Q. RESULTS: Patients (N = 158) with isolated or syndromic CL/P and mean age 13.4 ± 3.0 years were included. Fifteen (9%) patients had siblings who also had CL/P. Of 104 patients who met with the team psychologist, psychosocial concerns were identified in 49 (47%) patients, including 25 (24%) with Attention-Deficit/Hyperactivity Disorder or behavior concerns, 28 (27%) with anxiety, and 14 (13%) with depression or mood concerns. Younger age and having siblings with cleft were associated with better PROs, while psychosocial concerns were associated with worse PROs on Speech, Psychosocial, and Face Appearance scales. CONCLUSIONS: Patient perception of cleft outcomes is linked to psychosocial factors.

Oxycephaly-systematic review, case presentation, and diagnostic clarification.

PURPOSE: Oxycephaly is a specific phenotype of multi-suture craniosynostosis that is often misrepresented. This study aims to review the relevant literature, clarify the diagnostic criteria, and present an alternate approach to its management. METHODS: Published literature regarding oxycephaly was reviewed from 1997, when the largest series was published, until 2022. All cases at a single institution were then retrospectively reviewed. RESULTS: Over the last 25 years, four studies met the inclusion criteria, none of which specifically defined oxycephaly. One case, in one study, was potentially consistent with the phenotype. An institutional review yielded two patients who met the original diagnostic criteria set forth by Renier and Marchac. Both patients had unexplained speech delays, mild retinal nerve fiber layer thickening, and diffuse inner table scalloping, along with the characteristic oxycephalic phenotype. One patient also had a direct intracranial pressure (ICP) measurement of 25 mmHg, and the other had a Chiari I malformation. Both were treated with posterior vault distraction osteogenesis (PVDO) to alleviate the cephalo-cranial disproportion while simultaneously allowing for turricephaly correction. CONCLUSIONS: Oxycephaly presents with late onset multi-suture fusion. Patients have patent sutures at birth. Midface hypoplasia and known syndromic associations are absent. Patients demonstrate supraorbital recession, an obtuse fronto-nasal angle, and turricephaly without substantial brachycephaly. Over 60% of patients have symptomatic ICP elevation, the presentation of which ranges from headaches to rapidly progressive blindness. This rare form of craniosynostosis is particularly virulent and likely often missed due to diagnostic ambiguity and its relatively mild phenotype.

Utilization of carbonated calcium phosphate cement for contouring cranioplasty in patients with syndromic craniosynostosis.

PURPOSE: Carbonated calcium phosphate (CCP) cement is an alloplastic material which has been increasingly utilized for cranioplasty reconstruction; however, there is a paucity of data investigating its use in patients with syndromic craniosynostosis. The purpose of this study was to characterize our institutional experience with CCP cement for secondary contouring cranioplasty in these patients to establish safety and aesthetic efficacy. METHODS: Patients with syndromic craniosynostosis undergoing cranioplasty with CCP cement from 2009 to 2022 were retrospectively reviewed for prior medical and surgical history, cranioplasty size, cement usage, and postoperative complications. Aesthetic ratings of the forehead region were quantified using the Whitaker scoring system at three timepoints: preoperative (T1), < 6 months postoperative (T2), and > 1 year postoperative (T3). RESULTS: Twenty-one patients were included. Age at surgery was 16.2 ± 2.8 years, forehead cranioplasty area was 135 ± 112 cm2, and mass of cement was 17.2 ± 7.8 g. Patients were followed for 3.0 ± 3.1 years. Whitaker scores decreased from 1.9 ± 0.4 at T1 to 1.4 ± 0.5 at T2 (p = 0.005). Whitaker scores at T2 and T3 were not significantly different (p = 0.720). Two infectious complications (9.5%) were noted, one at 4.5 months postoperatively and the other at 23 months, both requiring operative removal of CCP cement. CONCLUSION: Our results suggest that aesthetic forehead ratings improve after CCP contouring cranioplasty and that the improvement is sustained in medium-term follow-up. Complications were uncommon, suggesting that CCP is relatively safe though longer-term follow-up is needed before reaching definitive conclusions.

Prior fronto-orbital advancement associated with complications from transcranial midface surgery in patients with syndromic craniosynostosis.

PURPOSE: Our center adopted posterior vault distraction osteogenesis (PVDO) as a first-line intervention for cranial expansion in syndromic craniosynostosis in 2008, and we have a growing cohort of patients undergoing transcranial midface advancement who have not had prior fronto-orbital advancement (FOA). The purpose of this study was to evaluate whether a history of FOA influences the risk profile of transcranial midface advancement in patients with syndromic craniosynostosis. METHODS: Patients undergoing transcranial fronto-facial advancement from 2000 to 2022 were retrospectively divided into cohorts based on preceding history of fronto-orbital advancement (FOA- and FOA+). Perioperative outcomes including operative time, length of stay, intraoperative dural injury, and complications (Clavien-Dindo score) were compared between groups with appropriate statistics. RESULTS: Thirty-eight patients were included (15 in FOA- group and 23 in FOA+ group). The overall complication rate was 47% (10% minor, 37% major). Compared to the FOA- group, the FOA+ group had a higher incidence of dural tears (65% v 20%, p = 0.006) and major complications (48% v 13%, p = 0.028). These findings were recapitulated in multivariate logistic regression controlling for other predictors. CONCLUSIONS: Prior FOA is associated with increased rates of major complications and dural tears in patients with syndromic craniosynostosis undergoing fronto-facial surgery. Options for cranial vault expansion that avoid the frontal region, such as PVDO, may favorably alter the risk profile of fronto-facial advancement.

Spring forces and calvarial thickness predict cephalic index changes following spring-mediated cranioplasty for sagittal craniosynostosis.

BACKGROUND: Variables interacting to predict outcomes following spring-mediated cranioplasty (SMC) for non-syndromic craniosynostosis, including spring parameters and calvarial thickness, are poorly understood. This study assessed interactions between spring parameters and calvarial thickness to predict changes in cephalic index (CI) following SMC. METHODS: Patients undergoing SMC for non-syndromic sagittal craniosynostosis at our institution between 2014 and 2021 were included. Calvarial thickness was determined from patient preoperative CTs using Materalise Mimics at 27 points in relation to the sagittal suture. Linear mixed effects models were used to determine interactions between anterior, middle, and posterior calvarial thickness with spring force and length. RESULTS: Sixty-nine patients undergoing surgery at mean age 3.7 months were included in this study. Stronger posterior spring force interacted with thinner posterior calvarial thickness to predict greater changes in CI at 3 months postoperatively (p = 0.022). When evaluating spring force and calvarial thickness set distances from the sagittal suture, stronger posterior spring force interacted with thinner posterior calvarial thickness 5 mm (p = 0.043) and 10 mm (p = 0.036) from the sagittal suture to predict changes in CI. Interactions between spring parameters and calvarial thickness in the anterior and middle positions did not significantly predict changes in CI. CONCLUSIONS: Stronger posterior spring force interacted with thinner posterior calvaria to predict greater changes in CI 3 months following SMC for non-syndromic sagittal craniosynostosis. These results suggest dynamic interactions between several variables may impact outcomes following SMC.

Associations Between Medicaid Expansion and Timely Repair of Cleft Lip and Palate.

The expansion of Medicaid under the Affordable Care Act (ACA) increased access to health care for many low-income children. However, the impact of this expansion on the timing of primary cleft lip and palate repair remains unclear. This study aimed to evaluate whether Medicaid expansion improved access to timely cleft lip and palate repair and whether it reduced preexisting ethnoracial disparities. Using a quasi-experimental design, the study analyzed data from 44 pediatric surgical centers across the United States. The results showed that Medicaid expansion was associated with a 9.0 percentage-point increase in delayed cleft lip repairs, resulting in an average delay of 16 days. Non-White patients were disproportionately affected by this delay, experiencing a 14.8 percentage-point increase compared with a 4.9 percentage-point increase for White patients. In contrast, Medicaid expansion had no significant effect on the timing of palate repair or on ethnoracial disparities in palate repair. The study underscores the importance of monitoring unintended consequences of large-scale health system changes, especially those affecting disadvantaged populations. Delayed cleft lip repair can lead to worse outcomes for patients, and the disproportionate impact on non-White patients is concerning. Further research is needed to identify the reasons for this delay and to mitigate its effects. Overall, the study highlights the need for ongoing vigilance to ensure that health care policies and interventions do not inadvertently worsen health disparities.

Genetic Subtypes of Apert Syndrome Are Associated With Differences in Airway Morphology and Early Upper Airway Obstruction.

BACKGROUND: Apert syndrome is predominantly caused by 2 paternally inherited gain-of-function mutations in the FGFR2 gene, Pro253Arg, and Ser252Trp. Studies comparing phenotypic features between these 2 mutations have established differences in syndactyly severity and incidence of cleft palate. Obstructive sleep apnea can be debilitating in a subset of patients with Apert syndrome, yet is not well understood. This study aims to determine whether FGFR2 mutations impart differential effects on airway physiology and morphology. METHODS: Patients with Apert syndrome and confirmatory molecular testing were reviewed for polysomnography, nasal endoscopy, microlaryngoscopy and bronchoscopy, and computed tomography imaging. Obstructive apnea-hypopnea index and oxygen saturation nadir, nasal airway volumes, choanal cross-sectional area, and midfacial cephalometric dimensions were compared across mutation types. RESULTS: Twenty-four patients (13 Ser252Trp, 11 Pro253Arg) were included. Severe obstructive sleep apnea (obstructive apnea-hypopnea index>10) occurred in 8 (62%) patients with Ser252Trp mutations compared with 1 (9%) patient with Pro253Arg mutations ( P =0.009). Computed tomography imaging at 1 year of age demonstrated that nasopharyngeal airway volumes were 5302±1076 mm 3 in the Ser252Trp group and 6832±1414 mm 3 in the Pro253Arg group ( P =0.041). Maxillary length (anterior nasal spine-posterior nasal spine, P =0.026) and basion-anterior nasal spine ( P =0.007) were shorter in patients with Ser252Trp mutations. CONCLUSIONS: The findings suggest that the Ser252Trp mutation in Apert syndrome is associated with higher severity obstructive sleep apnea and decreased nasopharyngeal airway volume. Heightened clinical awareness of these associations may inform treatment planning and family counseling.

Geospatial and Socioeconomic Factors Interact to Predict Management and Outcomes in Cleft Lip and Palate Surgery: A Single Institution Study of 740 Patients.

OBJECTIVE: Determine interactions between geospatial and socioeconomic factors influencing cleft lip and/or cleft palate (CL/P) management and outcomes. DESIGN: Retrospective review and outcomes analysis (n = 740). SETTING: Urban academic tertiary care center. PATIENTS: 740 patients undergoing primary (CL/P) surgery from 2009 to 2019. MAIN OUTCOMES MEASURES: Prenatal evaluation by plastic surgery, nasoalveolar molding, cleft lip adhesion, and age at CL/P surgery. RESULTS: Prenatal evaluation by plastic surgery was predicted by the interaction between higher patient median block group income and shorter patient distance from the care center (OR = 1.07, p = 0.022). Nasoalveolar molding was also predicted by the interaction between higher patient median block group income and shorter distance from the care center (OR = 1.28, p = 0.016), whereas cleft lip adhesion was predicted by higher patient median block group income alone (OR = 0.41, p < 0.001). Lower patient median block group income predicted later age at cleft lip (ß = -67.25, p = 0.011) and cleft palate (ß = -46.35, p = 0.050) repair surgery. CONCLUSIONS: Distance from the care center and lower median income by block group interacted to significantly predict prenatal evaluation by plastic surgery and nasoalveolar molding for patients with CL/P at a large, urban, tertiary care center. Patients living farthest from the care center who received prenatal evaluation by plastic surgery or who underwent nasoalveolar molding had higher median block group income. Future work will determine mechanisms perpetuating these barriers to care.

Characterizing Interventions and Family Assistance of a Nurse Navigation Program in Orofacial Cleft Care.

OBJECTIVE: Characterize the interventions and assistance employed by a cleft nurse navigator (CNN) which have mediated improvement in care equity at our institution. DESIGN: Retrospective study. SETTING: Academic tertiary care center. PATIENTS, PARTICIPANTS: Patients presenting with cleft lip and/or cleft palate presenting between August 2020 and August 2021 with exclusions for syndromic diagnosis, Pierre-Robin sequence, late (> 6 months) presentation, and prior cleft surgery at outside institutions. INTERVENTIONS: Multidisciplinary cleft nurse navigator program. MAIN OUTCOME MEASURE(S): Family interactions with the CNN by phone, text, and email across the first year of life including feeding support, nasoalveolar molding (NAM) assistance, appointment scheduling, financial assistance, addressing perioperative concerns, and facilitating physician consults. Patient weight and surgical timing were also recorded. RESULTS: Sixty-nine patients were included with a total of 639 interactions between the CNN and families. Scheduling support (30%), addressing perioperative concerns (22%), and feeding support (20%) were the most common interactions. Feeding support and NAM assistance were heavily distributed in the first 3 months of life compared to after 3 months (P < .001). Median age at first contact was 1 week (range: 22 weeks gestation-14 weeks). There was no difference in the proportion of families receiving feeding support, NAM assistance, or scheduling assistance based on insurance status or race (P > .05 for all). CONCLUSIONS: Scheduling assistance, addressing perioperative concerns, and feeding support are the predominant methods by which the CNN interacts with and assists families of patients with cleft conditions. CNN service distribution is largely equitable between demographic groups.

Long-Term Patient-Reported Outcomes in Internationally Adopted Children with Cleft Lip and Palate.

OBJECTIVE: To compare patient-reported outcomes (PROs) in internationally adopted patients with cleft lip and palate to those in non-adopted peers. DESIGN: Cross-sectional study. SETTING: Multidisciplinary cleft team at tertiary care hospital. PATIENTS: Patients aged ≥ 8 with cleft lip and palate attending routine cleft team evaluations September 2021 - September 2022. MAIN OUTCOME MEASURE: CLEFT-Q PRO scores. RESULTS: Sixty-four internationally adopted patients and 113 non-adopted patients with a mean age of 13 years were included. Compared to non-adopted peers, adopted patients demonstrated worse satisfaction with face appearance (mean 59 vs. 66, p = .044), speech function (mean 69 vs. 78, p = .005), and speech distress (mean 80 vs. 84, p = .032). No significant differences were observed on the nose, nostrils, teeth, lips, lip scar, jaws, psychological function, or social function scales (p > .05). Objective clinical evaluation corroborated these findings, with adopted patients demonstrating worse Pittsburgh Weighted Speech scores (mean 3.0 vs 1.9, p = .027) and greater incidence of articulation errors (64% vs 46%, p = .021). No significant differences were observed in rates of mood, anxiety, or behavior concerns identified on psychosocial assessment (p = .764). Among adopted patients, undergoing palatoplasty prior to adoption was associated with worse satisfaction with speech, appearance, school, and social function (p < .05). CONCLUSIONS: Patient-reported outcomes among internationally adopted adolescents and young adults with cleft lip and palate show slightly lower satisfaction with facial appearance and speech but otherwise demonstrate similar results to non-adopted peers on most appearance and psychosocial measures. PRO data correlated well with objective speech assessment and did not portend worse psychosocial function.

Enhanced Recovery After Surgery for Pediatric Cleft Repair: A Systematic Review and Meta-Analysis.

OBJECTIVE: Perform a systematic review assessing the efficacy of enhanced recovery after surgery (ERAS) protocols for cleft palate repair. Primary outcomes included hospital length of stay, readmission rates, and postoperative narcotic use. Secondary outcomes included complications, time to initial postoperative oral intake, and pain scores. DATA SOURCES: Cohort and randomized studies of ERAS protocols pertaining to cleft palate repair were identified by systematic review of Medline, Scopus, Embase, and grey literature. REVIEW METHODS: Data extracted included patient demographics, clinical care protocols, complication rates, postoperative narcotic use, time to initial postoperative oral intake, hospital length of stay, family satisfaction, and 30-day readmission. Meta-analysis was used to compare outcomes between patients enrolled in ERAS protocols versus those in conventional care pathways. RESULTS: Eight hundred sixty-five articles were screened, and 5 studies met full inclusion criteria. A total of 425 patients were included. Patients in ERAS protocols saw a mean reduction of - 23.96 hours in length of stay compared to controls (95% confidence interval [CI]: - 26.4, - 20.6). Patients in ERAS protocols also had decreased total morphine consumption (mean difference [MD]: - 3.88 mg; CI: - 4.31, - 3.45), and decreased time to first initial feed compared to controls (MD: - 3.88 hours; CI: - 4.3, - 3.5). There was no difference in readmission rates or complication rates between ERAS and control groups. CONCLUSIONS: ERAS protocols have seen limited use in pediatric patients. The present study sought to assess the impact of ERAS protocols following primary palatoplasty. Our results indicate decreased hospital length of stay, postoperative opioid consumption, and time to feeding, without increasing readmission rates or complication rates.

Prenatal Diagnosis of Cleft and Craniofacial Conditions: An International Analysis of Practice Patterns.

ABSTRACT: Prenatal diagnosis of congenital anomalies is associated with increased parental stress. Surgical prenatal counseling for parents expecting a child with an orofacial cleft has been shown to reduce parental anxiety through education and expectation setting. Despite the prevalence and significance of these conditions throughout the world, little is known of international counseling practices as they pertain to clefts and other craniofacial conditions, specifically regarding topics of counseling and discussions of ethical issues including interruption of pregnancy (IOP).In this study, 50 members of the International Society of Craniofacial Surgery, representing 18 countries, were surveyed. The questionnaire included questions about the number of consultations performed, for which conditions, setting of practice, and regional regulations pertaining to IOP. The authors report that the most frequent topics of discussion included initial treatment of clefts (89%), future surgeries (89%), and speech/language difficulties (85%). North American surgeons more frequently discussed cleft appearance (100%) thansurgeons from Central/SouthAmerica (64%) or Europe (64%, P = 0.019). Overall, 46% of surgeons surveyed believe it is ethical to give parents their opinion on IOP when asked. European surgeons were more likely to report that parents want to receive information about IOP at prenatal consultations (82%), compared to 25% from North America and 8% from Central/South America ( P < 0.001). The authors conclude that despite a lack of standard guidelines on conducting prenatal counseling appointments for cleft and craniofacial conditions, discussion topics were similar across country, practice type, and surgeon experience.

Associations of Facial Proportionality, Attractiveness, and Character Traits.

BACKGROUND: Facial proportionality and symmetry are positively associated with perceived levels of facial attractiveness. OBJECTIVE: The aims of this study were to confirm and extend the association of proportionality with perceived levels of attractiveness and character traits and determine differences in attractiveness and character ratings between "anomalous" and "typical" faces using a large dataset. METHODS: Ratings of 597 unique individuals from the Chicago Face Database were used. A formula was developed as a proxy of relative horizontal proportionality, where a proportionality score of "0" indicated perfect proportionality and more negative scores indicated less proportionality. Faces were categorized as "anomalous" or "typical" by 2 independent reviewers based on physical features. RESULTS: Across the ratings for all faces, Spearman correlations revealed greater proportionality was associated with attractiveness ( ρ = 0.292, P < 0.001) and trustworthiness ( ρ = 0.193, P < 0.001), while lesser proportionality was associated with impressions of anger (ρ = 0.132, P = 0.001), dominance (ρ = 0.259, P < 0.001), and threateningness ( ρ = 0.234, P < 0.001). Mann-Whitney U tests revealed the typical cohort had significantly higher levels of proportionality (-13.98 versus -15.14, P = 0.030) and ratings of attractiveness (3.39 versus 2.99, P < 0.001) and trustworthiness (3.48 versus 3.35, P < 0.001). CONCLUSIONS: This study demonstrated that facial proportionality is not only significantly associated with higher ratings of attractiveness, but also associated with judgements of trustworthiness. Proportionality plays a role in evoking negative attributions of personality characteristics to people with facial anomalies.