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BackgroundDisabling pansclerotic morphea (DPM) is a rare systemic inflammatory disorder, characterized by poor wound healing, fibrosis, cytopenias, hypogammaglobulinemia, and squamous-cell carcinoma. The cause is unknown, and mortality is high.MethodsWe evaluated four patients from three unrelated families with an autosomal dominant pattern of inheritance of DPM. Genomic sequencing independently identified three heterozygous variants in a specific region of the gene that encodes signal transducer and activator of transcription 4 (STAT4). Primary skin fibroblast and cell-line assays were used to define the functional nature of the genetic defect. We also assayed gene expression using single-cell RNA sequencing of peripheral-blood mononuclear cells to identify inflammatory pathways that may be affected in DPM and that may respond to therapy.ResultsGenome sequencing revealed three novel heterozygous missense gain-of-function variants in STAT4. In vitro, primary skin fibroblasts showed enhanced interleukin-6 secretion, with impaired wound healing, contraction of the collagen matrix, and matrix secretion. Inhibition of Janus kinase (JAK)-STAT signaling with ruxolitinib led to improvement in the hyperinflammatory fibroblast phenotype in vitro and resolution of inflammatory markers and clinical symptoms in treated patients, without adverse effects. Single-cell RNA sequencing revealed expression patterns consistent with an immunodysregulatory phenotype that were appropriately modified through JAK inhibition.ConclusionsGain-of-function variants in STAT4 caused DPM in the families that we studied. The JAK inhibitor ruxolitinib attenuated the dermatologic and inflammatory phenotype in vitro and in the affected family members. (Funded by the American Academy of Allergy, Asthma, and Immunology Foundation and others.).

The aim of this study was to describe how professionals from multiple disciplines (e.g., speech-language pathologists, teachers, occupational therapists) in the United States reported challenges they face in delivering services to children with cortical visual impairment (CVI) who use augmentative and alternative communication (AAC). Three surveys were utilized to identify barriers to and priorities for improving educational and clinical services and in-service and preservice education from the perspectives of professionals in school, community, and university settings. Results suggest that current service delivery models may not be meeting the needs of either children with CVI who use AAC or the professionals whose job it is to provide them with services. Professionals in community-based settings appeared to encounter more barriers. Findings help to support a discussion about approaching AAC interventions for children with CVI who use AAC by adopting interprofessional collaborative practice (IPCP) and interprofessional education (IPE) models, which reflect long-standing best practice guidelines for AAC service delivery and are encouraged by multiple professional organizations.

Purpose: This scoping study sought to establish a baseline for how well the needs of children with cortical visual impairment (CVI) who use augmentative and alternative communication (AAC) are currently aligned with the services available to them. CVI is the most common cause of visual impairment in children today, and AAC methods rely heavily on vision. Yet, the prevalence of CVI in children who use AAC methods is not yet known, and there is virtually no research concerning use of AAC with children with CVI. Our overarching goals were to identify barriers and suggest priorities for improving outcomes for these children. Method: Surveys were distributed anonymously online to professionals from multiple disciplines in different school-based settings and to parents of children with CVI who use AAC. Results: School-based professionals identified many barriers, including a lack of knowledge and skills about CVI and about AAC, limited access to training and experts, and concerns about services being delivered in isolated silos with limited time allotted for interprofessional collaboration and planning. Parent reported that their children (Mage = 11 years) continued to rely predominantly on body-based forms of communication and lacked access to symbolic language, which, in AAC, is primarily visually based. Conclusions: The barriers to services identified by school-based professionals indicate a need to develop and disseminate reliable information about CVI and AAC, both at a preservice and in-service level and, while doing so, to respect the diversity of stakeholders who need this information, including parents. Future research on what types of AAC approaches support the development of language and communication skills for children with CVI is essential.

This study assesses college students' intent to intervene when presented with a hypothetical peer exhibiting depression in one of three scenarios: depression, sadness, and depression in quarantine during COVID-19. Using the Theory of Planned Behavior (TPB), variations in constructs associated with intent were examined by context (external triggers vs. no trigger), knowledge of, and experience with depression. One hundred and sixteen health sciences students read three vignettes and completed an enhanced TPB questionnaire. Intent to intervene was greater when the vignette target was experiencing depression with external stressors. Prior experience with depression and knowing someone with depression were associated with greater intent to connect the hypothetical peer to counseling resources regardless of vignette scenario. Due to increased mental health concerns resulting from the COVID-19 pandemic, efforts promoting awareness of mental illness in peers may benefit from increasing education about stressors and causes of depression that may not be observable. [ABSTRACT FROM AUTHOR]

Background: Eating disorders (ED) are a concern on college campuses, yet comprehensive education and awareness is low. Few studies have investigated knowledge of disordered eating not fitting prototypical depictions or recognition of disordered eating in males. Purpose: To assess college students' ability to identify behavioral symptoms of ED in men and women. Methods: We explored problem identification ability after reading vignettes depicting either males or females displaying ED behaviors aligned with anorexia, bulimia, and binge eating disorder, and a healthy control vignette. Ordinal logistic was used to examine the effect of vignette target gender, participant gender, and disorder depicted on identification. Results: Approximately half of the sampled students correctly categorized vignettes as EDs. Participants were most likely to correctly identify the bulimia scenario as an ED, followed by anorexia, and binge-eating, and were more likely to identify ED if the vignette target was a woman. Discussion: The findings suggest awareness of behavioral presentations of ED, particularly in males, is low. This may stem from prototypical depictions of ED in the media and existing education material. Translation to Health Education Practice: Health education can focus on observable, behavioral symptoms of ED to improve identification in college students.

Background: Research has elucidated some harmful aspects of fitness wearable devices including their role in exacerbating disordered eating and exercise behaviors in young adults. Purpose: The purpose of this study was to examine 1) if use of wearables was associated with exercise dependence and 2) prevalence of compensatory behaviors (CB) in response to not meeting goals set within the wearable. Methods: University students completed an anonymous online survey with the Exercise Dependence Scale-21. Participants also provided information about wearable use and CB (e.g. restricting food) in response to not meeting fitness goals. Multiple linear regression assessed the association between wearable use, CB, and exercise dependence. Results: Majority of participants using wearables reported CB if they did not meet goals set by wearables. Using wearables and engagement in CB were associated with higher exercise dependence scores. Discussion: This study suggests that wearables may exacerbate harmful compulsions, like exercise dependence, and should be recommended with caution by health education specialists. Translation to Health Education Practice: Consequences of wearable use are important to consider in the development of health education materials and interventions promoting wearable use. Certified Health Education Specialists should consider how to address negative aspects of fitness technology in physical activity promotion.

Over 50 million United States citizens (1 in 6 people in the US) have a developmental, acquired, or degenerative disability. The average US citizen can expect to live 20% of his or her life with a disability. Rehabilitation technologies play a major role in improving the quality of life for people with a disability, yet widespread and highly challenging needs remain. Within the US, a major effort aimed at the creation and evaluation of rehabilitation technology has been the Rehabilitation Engineering Research Centers (RERCs) sponsored by the National Institute on Disability, Independent Living, and Rehabilitation Research. As envisioned at their conception by a panel of the National Academy of Science in 1970, these centers were intended to take a "total approach to rehabilitation", combining medicine, engineering, and related science, to improve the quality of life of individuals with a disability. Here, we review the scope, achievements, and ongoing projects of an unbiased sample of 19 currently active or recently terminated RERCs. Specifically, for each center, we briefly explain the needs it targets, summarize key historical advances, identify emerging innovations, and consider future directions. Our assessment from this review is that the RERC program indeed involves a multidisciplinary approach, with 36 professional fields involved, although 70% of research and development staff are in engineering fields, 23% in clinical fields, and only 7% in basic science fields; significantly, 11% of the professional staff have a disability related to their research. We observe that the RERC program has substantially diversified the scope of its work since the 1970's, addressing more types of disabilities using more technologies, and, in particular, often now focusing on information technologies. RERC work also now often views users as integrated into an interdependent society through technologies that both people with and without disabilities co-use (such as the internet, wireless communication, and architecture). In addition, RERC research has evolved to view users as able at improving outcomes through learning, exercise, and plasticity (rather than being static), which can be optimally timed. We provide examples of rehabilitation technology innovation produced by the RERCs that illustrate this increasingly diversifying scope and evolving perspective. We conclude by discussing growth opportunities and possible future directions of the RERC program.

Context: There are ~7500 postneonatal deaths (28 days to under 1 year) in the US annually, of which a majority are preventable. Previous studies have reported a child's prior encounter with child protective services (CPS) as a risk factor for preventable death but few studies have evaluated this in relation to subsequent postneonatal deaths. Objective: To measure the association between prior reports of child abuse and subsequent postneonatal death. Study Design/Analysis: Secondary data analysis from the case-control Chicago Infant Mortality Study (CIMS). Conditional logistic regression modeling determined the odds of postneonatal death when there was a founded prior allegation. Setting and Population Studied: CIMS included all sudden, unexplained infant deaths up to 1 year in Chicago (November 1993-April 1996) (n=469), and matched living controls (n=472). Information on prior child abuse reports and outcomes was obtained through the Illinois Department of Children and Family Services (DCFS) State Central Registry for each case and control. Instrument: Cause of death was determined by Cook County Medical Examiners based on autopsy, death scene investigation and review of the medical history. DCFS database was searched on infant's name, mother's name, screening number and other identifiers. Only 'founded' allegations that occurred prior to the date of death (cases) and date of interview (controls) were included Outcome measures: Founded allegations for cases by cause of death. Odds of death by prior allegations and other socio-demographic factors. Results: DCFS founded allegations were identified in 119 cases (25%) and/or their families and in 35 controls (7%; OR = 4.25, 95% CI, 2.86, 6.35). There were no clear patterns when frequency of allegations was analyzed by cause of death. Families with founded allegations were almost 4 times more likely to experience a postneonatal death (aOR =3.79, 95% CI, 1.56, 9.10). Lower maternal education, age, inadequate prenatal care and infant-parent bedsharing were also associated with higher odds of postneonatal death. Conclusions: Child protective services involvement is an opportunity for education to help reduce the incidence of potentially preventable infant deaths. Families should have access to appropriate acute and preventive care and receive ongoing education about child abuse prevention, infant safety, reducing the risk of preventable deaths such as SIDS, and when to seek medical attention., Presenters Fern Hauck, MD, MS, MS, Sarah Blackstone, PhD, MPH, Kawai Tanabe, [...]

Background: Limited research exists on mental health correlates of behaviors of weight-conscious drinking (BWCD) and students' perceptions of how BWCD should be addressed. Purpose: The objectives were to (1) examine BWCD and different aspects of mental health and (2) gain insight into students' perceptions of such behaviors and potential strategies to address them. Methods: Four-hundred-twelve students completed a survey consisting of validated measures for: BWCD, eating disorders, exercise addiction, alcohol use, and psychological distress. Eight focus groups explored students' understanding of BWCD, its presence on campus, and potential intervention strategies. Results: Majority (62%) of participants indicated they engaged in at least one behavior associated with BWCD "very often" or "all the time." Hierarchical linear regression analysis indicated that disordered eating and exercise addiction were significant predictors of BWCD. Focus groups indicated participants struggled with awareness and ability to identify concerning BWCD. Taken together, the results indicated high prevalence of behaviors, but limited awareness of associated health consequences, and identification of BWCD. Discussion: BWCD are pervasive in this college sample, but students do not perceive them as harmful or problematic. Translation to Health Education Practice: There is a need for comprehensive education to address the intersection between alcohol use, exercise, and disordered eating.

Prior research has established associations between body mass index (BMI) and use of alcohol, tobacco, and marijuana. However, little research has been done investigating the relationship between other common illicit drugs and BMI trends. The present study investigated whether adolescents who reported using illicit drugs showed differences in BMI compared to peers who reported no drug use. There was a positive relationship between drug use and BMI as well as the number of drugs used and BMI. The results suggested that the positive relationship between the use of illicit drugs and BMI is largely due to smoking. Further research needs to ascertain whether smoking, illicit drug use, or both are among the first of many unhealthy behaviors that can subsequently lead to greater gains in BMI. Implications for health educators are discussed.

Due to their regular interaction with the general public, it has been suggested that certified exercise professionals and health coaches should expand their role into public health. However, before expanding their role, the current public health efforts of these professionals should be examined. A sample of American Council on Exercise certified personal trainers, group fitness instructors, medical exercise specialists, and health coaches were asked an open-ended question about public health efforts in their work, as part of a larger quantitative online survey. Data from 2,198 certified exercise professionals and health coaches led to five emerging themes about how participants use public health concepts. The most commonly used codes included "health promotion" (38.7%), "not public health" (22.0%), and "do not use public health" (14.3%). Exercise professionals and health coaches expressed efforts related to health promotion, specifically sharing and discussing health promotion topics with participants and clients. There were also responses that directly stated "I don't" use public health concepts in their work or provided a response that indicated a lack of knowledge of public health (e.g., business planning, positivity). There is undoubtedly potential for these professionals to expand their role into public health, but there will need to be means to increase public health knowledge as well as an exploration of the most appropriate ways to incorporate public health concepts into their work. [ABSTRACT FROM AUTHOR]