Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors.

The dystrophinopathies encompass the phenotypically variable forms of muscular dystrophy caused by pathogenic variants in the DMD gene. The dystrophinopathies include the most common inherited muscular dystrophy among 46,XY individuals, Duchenne muscular dystrophy, as well as Becker muscular dystrophy and other less common phenotypic variants. With increased access to and utilization of genetic testing in the diagnostic and carrier setting, genetic counselors and clinicians in diverse specialty areas may care for individuals with and carriers of dystrophinopathy. This practice resource was developed as a tool for genetic counselors and other health care professionals to support counseling regarding dystrophinopathies, including diagnosis, health risks and management, psychosocial needs, reproductive options, clinical trials, and treatment. Genetic testing efforts have enabled genotype/phenotype correlation in the dystrophinopathies, but have also revealed unexpected findings, further complicating genetic counseling for this group of conditions. Additionally, the therapeutic landscape for dystrophinopathies has dramatically changed with several FDA-approved therapeutics, an expansive research pathway, and numerous clinical trials. Genotype-phenotype correlations are especially complex and genetic counselors' unique skill sets are useful in exploring and explaining this to families. Given the recent advances in diagnostic testing and therapeutics related to dystrophinopathies, this practice resource is a timely update for genetic counselors and other healthcare professionals involved in the diagnosis and care of individuals with dystrophinopathies.

Artificial intelligence for objectively measuring years regained after facial rejuvenation surgery.

BACKGROUND: Few objective measures are available for assessing the success of facial rejuvenation after face lift surgery. Convolutional neural networks (CNNs) may be used for this type of measurement. The purpose of this investigation is to use artificial intelligence (AI) via CNNs to objectively classify patient photos by age before and after aesthetic surgery. Uniquely, men and patients undergoing deep plane face lifts were included. METHODS: A CNN (FaceX) was used for facial age recognition and age estimation. Patient photos were analyzed preoperatively, and at three (PO1) and 12 months (PO2) postoperatively. The study population included male and female patients who underwent facial rejuvenation at our institution from 2017 to 2021. Patient photos were collected with the same camera, distance, and lighting. RESULTS: 226 patients were analyzed with a mean true age of 62.2 (SD 6.7) years. The AI estimated the mean preoperative age to be 64.7 (SD 10.4) years. The AI was 96.0 % accurate. Across all subjects, a 3.5-year, 5 % reduction in age (p ≤ 0.001) was attributed at PO1, and a 1.7 year, 3 % age reduction (p = 0.034) at PO2. No single ancillary procedure or technique conferred more benefit than others. The 15 males had a 2.0 year, 4 % age reduction (p = 0.06) at PO1. CONCLUSION: AI can be used to objectively measure the success of facelift surgery and compare outcomes among rhytidectomy techniques. Additionally, multiple, different approaches were effective with no single approach being superior. As AI continues to rapidly advance, more accurate models may be developed for multiple applications in facial plastic surgery.

Predictors of opioid requirement among patients receiving free flap reconstruction to the head and neck.

BACKGROUND: Opioids are a part of standard of care treatment of acute, severe postoperative pain. However, increased opioid requirements have been shown to be associated with increased postoperative complications, morbidity, and mortality. The aim of this study was to identify potential predictive factors associated with increased or decreased opioid requirements after free tissue transfer (FTT) to the head and neck. MATERIALS/METHODS: A retrospective review was conducted on subjects who underwent head and neck reconstruction (HNR) from 2015 to 2021 at a single tertiary care center. Patients with inpatient stay over 10 days and those receiving fentanyl for sedation purposes were excluded due to EMR limitations and confounding, respectively. The total dose of opioid medication each patient received was calculated and summed using morphine milligram equivalents (MME). Statistical analysis was conducted using poisson regression and multivariable regression models. RESULTS: Two hundred and ninety-one patients were included. The mean opioid requirement for all subjects was 228.6 (SD 250.0) MMEs during their entire postoperative stay and the mean length of stay was 6.0 (SD 1.7) days. An established opioid prescription prior to surgical resection was the greatest predictor of increased risk for opioid requirement according univariate and multivariate analysis 2.356 (2.321-2.392), p ≤ 0.0001 and 1.833 (1.802-1.863), p ≤ 0.0001, respectively. Fibula transfers were associated with higher opioid requirements while scapula transfers were associated with decreased opioid requirements compared to other free tissue transfer types. CONCLUSION: Preoperative opioid use was associated with higher postoperative opioid requirements. Multimodal pain management (MMPM) was not associated with a decreased opioid requirement; however, further studies are needed to investigate the hierarchy, dosing, and timing of MMPM in relation to opioid requirements and pain control.

Examining the Impact of COVID-19 on Education and Service Access for Diverse Families of Young Children With and Without Developmental Delays.

The rapid transition to virtual learning due to the COVID-19 pandemic created unprecedented challenges that significantly impacted caregivers of young children, particularly those with developmental delays and children from non-English speaking households (Valicenti-McDermott et al., 2022). The current study aims to describe caregivers' concerns regarding the COVID-19 pandemic in general and specific educational concerns following school closures, and to determine whether their concerns varied as a function of whether the child had a developmental delay or the parent's ethnicity. Results revealed that caregivers of children with DD endorsed a greater number of general and education-specific COVID-19 concerns compared to caregivers of TD children, and non-Latinx caregivers of children with DD reported more general COVID-19 concerns compared to Latinx caregivers of children with DD. With respect to education-specific concerns, caregivers of children with DD reported a greater impact from the loss and/or delay of services and reported feeling significantly less capable of conducting educational activities in the home compared to caregivers of TD children. However, almost all caregivers in the study endorsed some level of stress from remote instruction. These findings suggest there is a specific need for attention to caregiver mental health and an examination of long-term educational outcomes resulting from extended school closures during the COVID-19 pandemic.

Web-Based Mindfulness-Based Interventions for Well-being: Randomized Comparative Effectiveness Trial.

BACKGROUND: Mindfulness can improve overall well-being by training individuals to focus on the present moment without judging their thoughts. However, it is unknown how much mindfulness practice and training are necessary to improve well-being. OBJECTIVE: The primary aim of this study was to determine whether a standard 8-session web-based mindfulness-based cognitive therapy (MBCT) program, compared with a brief 3-session mindfulness intervention, improved overall participant well-being. In addition, we sought to explore whether the treatment effects differed based on the baseline characteristics of the participants (ie, moderators). METHODS: Participants were recruited from 17 patient-powered research networks, web-based communities of stakeholders interested in a common research area. Participants were randomized to either a standard 8-session MBCT or a brief 3-session mindfulness training intervention accessed on the web. The participants were followed for 12 weeks. The primary outcome of the study was well-being, as measured by the World Health Organization-Five Well-Being Index. We hypothesized that MBCT would be superior to a brief mindfulness training. RESULTS: We randomized 4411 participants, 3873 (87.80%) of whom were White and 3547 (80.41%) of female sex assigned at birth. The mean baseline World Health Organization-Five Well-Being Index score was 50.3 (SD 20.7). The average self-reported well-being in each group increased over the intervention period (baseline to 8 weeks; model-based slope for the MBCT group: 0.78, 95% CI 0.63-0.93, and brief mindfulness group: 0.76, 95% CI 0.60-0.91) as well as the full study period (ie, intervention plus follow-up; baseline to 20 weeks; model-based slope for MBCT group: 0.41, 95% CI 0.34-0.48; and brief mindfulness group: 0.33, 95% CI 0.26-0.40). Changes in self-reported well-being were not significantly different between MBCT and brief mindfulness during the intervention period (model-based difference in slopes: -0.02, 95% CI -0.24 to 0.19; P=.80) or during the intervention period plus 12-week follow-up (-0.08, 95% CI -0.18 to 0.02; P=.10). During the intervention period, younger participants (P=.05) and participants who completed a higher percentage of intervention sessions (P=.005) experienced greater improvements in well-being across both interventions, with effects that were stronger for participants in the MBCT condition. Attrition was high (ie, 2142/4411, 48.56%), which is an important limitation of this study. CONCLUSIONS: Standard MBCT improved well-being but was not superior to a brief mindfulness intervention. This finding suggests that shorter mindfulness programs could yield important benefits across the general population of individuals with various medical conditions. Younger people and participants who completed more intervention sessions reported greater improvements in well-being, an effect that was more pronounced for participants in the MBCT condition. This finding suggests that standard MBCT may be a better choice for younger people as well as treatment-adherent individuals. TRIAL REGISTRATION: ClinicalTrials.gov NCT03844321; https://clinicaltrials.gov/ct2/show/NCT03844321.

Familism and Parenting Stress in Latinx Caregivers of Young Children with Developmental Delays.

Several studies have documented the difficult experience of raising a child with a developmental delay (DD; DeGrace et al., 2014) but the majority of research has focused on non-Latinx White families and their experiences in childrearing and interacting with service providers (Hayes & Watson, 2013; Blanche et al., 2015). Additionally, stigma associated with mental illness and DD disproportionally affects Latinx communities (Burke et al., 2019). Familism plays a unique role among families of Latinx backgrounds (Moore, 1970; Coohey, 2001) and may act as a buffer to caregiver mental health. The current study aims to (1) determine the association between affiliate stigma and parenting stress among Latinx parents of young children with DD and (2) test whether familism moderates the relationship between affiliate stigma and parenting stress. Results revealed that the relationship between affiliate stigma and parenting stress was strongest in caregivers who reported low levels of familism, suggesting that familism may act as a buffer. More research is needed to further unpack the protective factors of familism on caregiver mental health.

Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors.

INTRODUCTION: In this study we investigate associations between genotypic and sociodemographic factors and the age of diagnosis of Duchenne muscular dystrophy (DMD). METHODS: Data were collected from the Duchenne Registry from 2007 to 2019, and then used to assess the impact genotype, race/ethnicity, neighborhood poverty levels, and other sociodemographics factors have on the age of diagnosis of DMD patients without a known family history, using univariate and multivariable linear regression. RESULTS: The mean age of diagnosis was 4.43 years. Non-Caucasian patients and patients from high-poverty neighborhoods were older at diagnosis (P < .01). Increased year of birth was associated with decreasing age of diagnosis (P < .001). Specific genetic mutation subtypes were associated with later ages of symptom onset and diagnosis (P = .005). DISCUSSION: After adjusting for genotype and year of birth, the average age of diagnosis was significantly later for traditionally at-risk patients.

Chart validation of an algorithm for identifying hereditary progressive muscular dystrophy in healthcare claims.

BACKGROUND: Muscular dystrophies (MDs) are a group of inherited conditions characterized by progressive muscle degeneration and weakness. The rarity and heterogeneity of the population with MD have hindered therapeutic developments as well as epidemiological and health outcomes research. The objective of the study was to develop and validate a case-finding algorithm utilizing administrative claims data to identify and characterize patients with MD. METHODS: This retrospective cohort study used medical chart validation to evaluate an ICD-9/10 coding algorithm in a large commercial claims database. Patients were identified who had ≥2 office visits with a diagnosis of hereditary progressive MDs from January 1, 2013 through December 31, 2016, were male, and younger than 18 years at the time of first MD diagnosis. Cases who met the algorithm were then validated against medical charts. Diagnoses of MD and specific type (Duchenne, Becker, or other MD) were confirmed by medical chart review by trained reviewers. Positive predictive value (PPV) and 95% confidence intervals (CI) were calculated using a 2 × 2 contingence table. Patient demographic, clinical, and health utilization characteristics were summarized using basic descriptive statistics. RESULTS: Charts were obtained and reviewed for 109 patients who met the algorithm. The PPV of the case-identifying algorithm for MD was 95% (95% CI 88-98%). Of the 103 confirmed MD cases, 87 patients (85%, 95% CI 76-91%) had Duchenne or Becker MD; 76 patients (74%, 95% CI 64-82%) had Duchenne MD, and 11 patients (11%, 95% CI 5-18%) had Becker MD. A total of 74 (67.9%) patients had ≥1 pediatric complex chronic condition (other than neurologic/neuromuscular disease); 54 (49.5%) had cardiovascular conditions; 14 (12.8%) had respiratory conditions; 50 (45.9%) had bone-related issues; 11 (10.1%) had impaired growth; and 6 (5.5%) had puberty delay. CONCLUSIONS: The results of this study demonstrate that the case-finding algorithm accurately identified patients with MD, primarily Duchenne MD, within a large administrative database. The algorithm, which was constructed using a few items easily accessible from claims, can be used to facilitate epidemiological and health outcomes research in the Duchenne patient population.

Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry.

BACKGROUND: Treatment options for Duchenne muscular dystrophy remain limited, although consensus treatment guidelines recommend corticosteroid use. METHODS: This retrospective analysis assessed corticosteroid use in ambulatory and nonambulatory US males with Duchenne, age 35 and under, or Becker muscular dystrophy, who enrolled in The Duchenne Registry from 2007 to 2016 (formerly DuchenneConnect). RESULTS: The mean (SD) age of corticosteroid use initiation was 5.9 (2.5) years, and deflazacort use (54%) was slightly more common than prednisone/prednisolone (46%). Among all responses from those with Duchenne, 63% were currently on corticosteroids, 12% were no longer on corticosteroids, and 25% had never been on corticosteroids. Among those who were nonambulatory, 49% were currently on corticosteroids, 28% had discontinued corticosteroids, and 23% had never used corticosteroids. Primary reasons for never initiating therapy were that corticosteroids were not prescribed or recommended and concerns about side effects. Corticosteroid use was maximal at age 8 (84% on corticosteroids) and gradually declined from age 10 to 19. The primary reasons for corticosteroid discontinuation were problems with side effects (65%) or not enough benefit (28%). Average doses of corticosteroids were below recommended doses. In the 159 responses with Becker muscular dystrophy, 20% were currently using corticosteroids. CONCLUSIONS: Recognizing the self-selected nature of participation, it appears that a considerable proportion of US participants registered with The Duchenne Registry were either not on corticosteroids or not on recommended doses despite consensus recommendations. Side effects were a consideration in initiating and discontinuing treatment. These data reinforce the need for additional treatment options for those affected by Duchenne.

Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy.

Duchenne and Becker muscular dystrophy (DBMD) are X-linked conditions causing progressive muscle weakness, muscle wasting, and cardiomyopathy in affected males. Two-thirds of cases of DBMD are inherited from a carrier female while one-third of cases occur sporadically. Women who are DBMD carriers typically do not manifest noticeable muscular symptoms. However, about 10% may develop cardiomyopathy while up to 60% are at risk for cardiac abnormalities including myocardial damage, fibrosis, and abnormalities detectable by echocardiogram and electrocardiogram (EKG). The American Academy of Pediatrics (AAP) recommends that carriers of DBMD receive a complete cardiac evaluation beginning at age 25-30 which includes an echocardiogram and EKG, with re-evaluation at least every 5 years. As many as 54.5% carriers may not be adhering to the AAP recommendations (Bogue et al., 2016). This study was conducted to define the perceived challenges carriers of DBMD face in obtaining cardiac care. A questionnaire was completed by 60 carriers of DBMD recruited through The Duchenne Registry to determine their current cardiac care practices. The majority of carriers surveyed (71.7%, 43/60) self-reported obtaining appropriate cardiac care while 28.3% (17/60) of carriers surveyed did not. Eleven semi-structured telephone interviews were conducted with a subset of those who completed the questionnaire. Individuals were eligible for telephone interview if they had not: (a) seen a cardiologist in the last 5 years, (b) had an echocardiogram in the last 5 years, or (c) had an EKG in the last 5 years. The primary theme identified from this cohort was a perceived lack of awareness among healthcare providers regarding cardiac risks in carriers (11/11). Increased awareness, health education regarding risks for carriers, and advocacy efforts are needed for healthcare providers and DBMD carriers in order to ensure that this entire population receives the cardiac care they need.

DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.

Antisense oligonucleotide (AON)-mediated exon skipping is an emerging therapeutic for individuals with Duchenne muscular dystrophy (DMD). Skipping of exons adjacent to common exon deletions in DMD using AONs can produce in-frame transcripts and functional protein. Targeted skipping of DMD exons 8, 44, 45, 50, 51, 52, 53, and 55 is predicted to benefit 47% of affected individuals. We observed a correlation between mutation subgroups and age at loss of ambulation in the Duchenne Registry, a large database of phenotypic and genetic data for DMD (N = 765). Males amenable to exon 44 (N = 74) and exon 8 skipping (N = 18) showed prolonged ambulation compared to other exon skip groups and nonsense mutations (P = 0.035 and P < 0.01, respectively). In particular, exon 45 deletions were associated with prolonged age at loss of ambulation relative to the rest of the exon 44 skip amenable cohort and other DMD mutations. Exon 3-7 deletions also showed prolonged ambulation relative to all other exon 8 skippable mutations. Cultured myotubes from DMD patients with deletions of exons 3-7 or exon 45 showed higher endogenous skipping than other mutations, providing a potential biological rationale for our observations. These results highlight the utility of aggregating phenotypic and genotypic data for rare pediatric diseases to reveal progression differences, identify potentially confounding factors, and probe molecular mechanisms that may affect disease severity.

Microcystic Adnexal Carcinoma: A Review of the Literature.

BACKGROUND: Microcystic adnexal carcinoma (MAC) is a rare, locally aggressive cutaneous neoplasm that commonly occurs on the face. OBJECTIVE: The purpose of this article is to comprehensively review the current literature on MAC pertaining to epidemiology, pathogenesis, clinical presentation, histology, immunohistochemistry, prognosis, follow-up, and treatment. MATERIALS AND METHODS: An extensive literature review was conducted using OVID MEDLINE and PubMed to identify articles relating to MAC. RESULTS: Microcystic adnexal carcinoma typically presents as a skin-colored nodule on the face. The pathogenesis is mostly related to pilar and eccrine differentiation. Histologically, MAC can mimic syringoma, desmoplastic trichoepithelioma, and infiltrative basal cell carcinoma. Diagnosis is challenging because superficial shave biopsies may reveal only benign findings that do not warrant further management. A deep biopsy is mandatory for the correct diagnosis, and Mohs micrographic surgery provides the highest cure rate. CONCLUSION: Microcystic adnexal carcinoma is a locally aggressive disease with histological margins that often far surpass what is clinically suspected. Mohs micrographic surgery is the standard of care for removal of these lesions. Patients with a history of MAC should be examined at least every 6 months for recurrence, metastasis, and development of additional skin cancers.

A unique case of concurrent chronic lymphocytic leukemia/small lymphocytic lymphoma and lymphomatoid papulosis in the same biopsy.

Chronic lymphocytic leukemia (CLL/SLL) is the most common leukemia in the western world and its cutaneous dissemination a very uncommon phenomenon. Lymphomatoid papulosis (LyP) is a CD30+ lymphoproliferative disorder characterized by chronic, recurrent and self healing skin lesions. Up to 20% of patients with LyP have a coexistent lymphoma. While the association between the two entities has been reported, their coexistence has never been documented. We describe a 74-year-old man with known CLL and thrombocytopenia who presented with a 2 year history of recurrent nodules and plaques to both arms and legs that resolved within 4-6 weeks after administration of rituximab and bendamustin for his CLL treatment. His biopsies showed an atypical lymphoid infiltrate, composed of large and pleomorphic cells with a nodular and interstitial pattern in a background of eosinophils. Immunohistochemical staining revealed a pattern of two separate yet coexisting neoplastic processes; a large CD30 positive T-cell lymphoproliferative disorder, while the other one was diagnostic of a neoplastic B-cell process (leukemia cutis). A diagnosis of coexistent LyP and cutaneous involvement by CLL/SLL was rendered. The simultaneous presence of both disorders can be a pitfall in the differential diagnosis of large cell lymphomas, such as Richter's transformation of CLL/SLL.

Pediatric aleukemic leukemia cutis: report of 3 cases and review of the literature.

Leukemia cutis (LC) denotes a cutaneous infiltration of neoplastic myeloid cells or lymphoid blasts, which can present in the setting of acute myeloid leukemia, particularly in those cases with monocytic or myelomonocytic differentiation. Rarely, cutaneous involvement by a leukemic infiltrate can occur in the absence of bone marrow or peripheral blood involvement by acute leukemia; this then is referred to as aleukemic LC (ALC). Recognition of LC is important for further classification and early diagnosis of the disease, but the diagnosis is difficult in the absence of a systemic presentation of acute leukemia. Although the molecular and cytogenetic features of ALC are poorly characterized, some have shown specific molecular alterations in common with classic forms of acute leukemias. We present 3 cases of ALC in pediatric patients.

Risk of post-tonsillectomy hemorrhage among COVID-19 positive pediatric patients.

OBJECTIVE: COVID-19 infection has been demonstrated to increase risk for post-operative bleeding. This study investigated the impact of COVID-19 infection on post-tonsillectomy hemorrhage in pediatric patients, a potentially devastating complication. STUDY DESIGN: Retrospective cohort study. METHODS: The TriNetX database was queried for pediatric patients who underwent tonsillectomy and evaluated for outcomes of primary and secondary post-tonsillectomy hemorrhage. RESULTS: Among subjects 18 years and younger, 1226 were COVID-19 positive and 38,241 were COVID-19 negative in the perioperative period. There was statistically significant increased risk of bleeding with perioperative COVID-19 infection at postoperative days 1, 5, and 10. Additionally, when assessing the role of COVID-19 infection before or after surgery, the risk of bleeding remained statistically significant at all three time points, however these results did not suggest that infection before surgery confers more/less risk compared to infection after. CONCLUSION: The results of this investigation suggest that the presence of COVID-19 in the perioperative period may pose an increased risk for acute or delayed post tonsillectomy hemorrhage. This study employed a large, diverse population and is the first to address this clinical question.

Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease.

Background: Duchenne muscular dystrophy (DMD) and related dystrophinopathies are neuromuscular conditions with great unmet medical needs that require the development of effective medical treatments. Objective: To aid sponsors in clinical development of drugs and therapeutic biological products for treating DMD across the disease spectrum by integrating advancements, patient registries, natural history studies, and more into a comprehensive guidance. Methods: This guidance emerged from collaboration between the FDA, the Duchenne community, and industry stakeholders. It entailed a structured approach, involving multiple committees and boards. From its inception in 2014, the guidance underwent revisions incorporating insights from gene therapy studies, cardiac function research, and innovative clinical trial designs. Results: The guidance provides a deeper understanding of DMD and its variants, focusing on patient engagement, diagnostic criteria, natural history, biomarkers, and clinical trials. It underscores patient-focused drug development, the significance of dystrophin as a biomarker, and the pivotal role of magnetic resonance imaging in assessing disease progression. Additionally, the guidance addresses cardiomyopathy's prominence in DMD and the burgeoning field of gene therapy. Conclusions: The updated guidance offers a comprehensive understanding of DMD, emphasizing patient-centric approaches, innovative trial designs, and the importance of biomarkers. The focus on cardiomyopathy and gene therapy signifies the evolving realm of DMD research. It acts as a crucial roadmap for sponsors, potentially leading to improved treatments for DMD.

Perceived and Observed Treatment Gains Following PEERS: A Preliminary Study with Latinx Adolescents with ASD.

The Program for the Education and Enrichment of Relational Skills (PEERS) social skills intervention has demonstrated effectiveness for adolescents with autism spectrum disorder (ASD). However, studies have been limited by a lack of objective outcome measures and an underrepresentation of Latinx families. This pilot study extends the PEERS literature by utilizing an observational measure of conversational skills (Contextual Assessment of Social Skills; CASS) with a diverse sample of 13 adolescents with ASD (with parent groups conducted in English and Spanish simultaneously) and a control group of 11 neurotypical adolescents. Consistent with previous research, adolescents with ASD and their parents perceived improvements in social functioning following intervention, which were maintained four months later and corroborated by improvements in conversational skills.

Diagnostic Accuracy of Primary Care Clinicians Across a Statewide System of Autism Evaluation.

OBJECTIVES: To evaluate the diagnostic accuracy of the Early Autism Evaluation (EAE) Hub system, a statewide network that provides specialized training and collaborative support to community primary care providers in the diagnosis of young children at risk for autism spectrum disorder (ASD). METHODS: EAE Hub clinicians referred children, aged 14 to 48 months, to this prospective diagnostic study for blinded follow-up expert evaluation including assessment of developmental level, adaptive behavior, and ASD symptom severity. The primary outcome was agreement on categorical ASD diagnosis between EAE Hub clinician (index diagnosis) and ASD expert (reference standard). RESULTS: Among 126 children (mean age: 2.6 years; 77% male; 14% Latinx; 66% non-Latinx white), 82% (n = 103) had consistent ASD outcomes between the index and reference evaluation. Sensitivity was 81.5%, specificity was 82.4%, positive predictive value was 92.6%, and negative predictive value was 62.2%. There was no difference in accuracy by EAE Hub clinician or site. Across measures of development, there were significant differences between true positive and false negative (FN) cases (all Ps < .001; Cohen's d = 1.1-1.4), with true positive cases evidencing greater impairment. CONCLUSIONS: Community-based primary care clinicians who receive specialty training can make accurate ASD diagnoses in most cases. Diagnostic disagreements were predominately FN cases in which EAE Hub clinicians had difficulty differentiating ASD and global developmental delay. FN cases were associated with a differential diagnostic and phenotypic profile. This research has significant implications for the development of future population health solutions that address ASD diagnostic delays.

Perioperative complications among head and neck surgery patients with COVID-19.

BACKGROUND: Patients undergoing surgery for head and neck cancer (HNC) have potentially high perioperative complication rates. Recent studies indicate that preoperative COVID-19 infection poses increased risk for postoperative complications in other fields. However, to date, there has not been data showing the effect of COVID-19 on complication rates for HNC. Here, a large database was employed to assess if perioperative COVID-19 increased the risk of perioperative complications among those undergoing HNC surgery. METHODS: A retrospective investigation was conducted using a multi-institutional research database. Subjects who underwent HNC surgery from January 2020 to September 2022 were identified using the International Classification of Diseases and Current Procedure Terminology codes. Thirty-day surgical and medical complications were assessed for those diagnosed with COVID-19 infection from 7 days before or after surgery compared to those who were COVID-19 negative. Cohorts were propensity scores matched by age, sex, and race. RESULTS: Perioperative COVID-19 was present in n = 208 and absent in n = 15 158 subjects that underwent HNC surgery. For unmatched analyses, there was a statistically significant increased risk in the 30-day postoperative period in COVID-19-positive patients for the following surgical complications: surgical site fistula, free tissue transfer (FTT) complication, FTT failure, and death. Additionally, there was a statistically significant increased risk in the 30-day postoperative period in COVID-19-positive patients for the following medical complications: ventilator support, pneumonia, vasopressor, acute renal failure, and myocardial infarction. CONCLUSION: This large, retrospective populational study suggests HNC patients are at increased risk for death and several perioperative complications. This investigation is the first to address this clinical question.