Emotion Recognition and Traumatic Brain Injury: a Systematic Review and Meta-Analysis.

Traumatic brain injury (TBI) can lead to impairments in emotion recognition that can present considerable challenges to social communication and the maintenance of interpersonal relationships. This review aimed to estimate the magnitude of emotion recognition impairments in TBI patients overall, and at the emotion category level, and to determine if the magnitude of observed impairments were moderated by modality (e.g., face, voice, multi-modal) of emotional expression, and severity of injury. Searches of PubMed, Scopus, PsycINFO, and Medline databases identified 17 studies which satisfied strict inclusion and exclusion criteria for the systematic review (comparing TBI patients to matched controls). Of these studies, 15 were included in the meta-analysis (NTBI = 474; NControl = 461). Moderate/large average deficits emerged for TBI patients relative to controls (Hedges' g = 0.79, 95% CI: 0.61 - 0.96, p < .001; Q = 22.53, p = .068, τ2 = 0.04, I2 = 37.84; indicating low heterogeneity). TBI patients were impaired across all emotion categories, with moderate/large effect sizes observed for fear and anger, moderate effect sizes for disgust, neutral and sadness, while effect sizes for happiness and surprise were small. The magnitude of impairment for individuals with TBI severity classified as moderate/severe TBI was moderate, whereas severe TBI was large. Moderate/large effect sizes were observed across the different modalities of presentation. This meta-analysis provides evidence for marked global impairments in emotion recognition, with the magnitude of impairment greatest for negative emotions (i.e., anger and fear). This meta-analysis provided no evidence to suggest that the magnitude of impairment is influenced by injury severity or modality of stimulus presentation. Recommendations for future research are discussed.

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.

BACKGROUND: Exome and genome sequencing have been demonstrated to increase diagnostic yield in paediatric populations, improving treatment options and providing risk information for relatives. There are limited studies examining the clinical utility of these tests in adults, who currently have limited access to this technology. METHODS: Patients from adult and cancer genetics clinics across Toronto, Ontario, Canada were recruited into a prospective cohort study evaluating the diagnostic utility of exome and genome sequencing in adults. Eligible patients were ≥18 years of age and suspected of having a hereditary disorder but had received previous uninformative genetic test results. In total, we examined the diagnostic utility of exome and genome sequencing in 47 probands and 34 of their relatives who consented to participate and underwent exome or genome sequencing. RESULTS: Overall, 17% (8/47) of probands had a pathogenic or likely pathogenic variant identified in a gene associated with their primary indication for testing. The diagnostic yield for patients with a cancer history was similar to the yield for patients with a non-cancer history (4/18 (22%) vs 4/29 (14%)). An additional 24 probands (51%) had an inconclusive result. Secondary findings were identified in 10 patients (21%); three had medically actionable results. CONCLUSIONS: This study lends evidence to the diagnostic utility of exome or genome sequencing in an undiagnosed adult population. The significant increase in diagnostic yield warrants the use of this technology. The identification and communication of secondary findings may provide added value when using this testing modality as a first-line test.

Feeding Problems and Maternal Anxiety in Children with Autism Spectrum Disorder.

OBJECTIVES: For mothers of children with autism spectrum disorder (ASD), mealtimes can be stressful. Up to 90% of children with ASD present with problems related to food selectivity and disruptive mealtime behavior. Researchers have associated parent behaviors with maintained maladaptive feeding behaviors in children. Studies have also shown a positive association between children's feeding problems and maternal concern for their children's health, suggesting maternal anxiety and negative feelings may contribute to feeding issues. However, most research and subsequent interventions focus primarily on children. METHOD: Cross-sectional data was gathered from sixty-four mothers of children aged 2-8 with ASD visiting a developmental/behavioral pediatric clinic in the Southeastern U.S. who completed the Behavioral Pediatric Feeding Assessment Scale (BPFAS), assessing child feeding behavior and parent strategies for feeding problems, and the State-Trait Anxiety Inventory (STAI), measuring anxiety currently (state) and as an enduring characteristic (trait). RESULTS: Over 50% of mothers reported clinical difficulties with child feeding. Significant associations were found between child feeding behaviors and parent feelings/strategies related to child feeding. Maladaptive maternal feelings and strategies were also significantly related to both total anxiety (r = .299, p = .027) and trait anxiety (r = .368, p = .006). Although maternal anxiety explained significant variance in child feeding behavior, parent mealtime feeling/strategies were the strongest predictors of child feeding problems. CONCLUSIONS: Maternal anxiety and maladaptive feeding strategies correlate with problematic child feeding behaviors, suggesting that maternal feelings and strategies may contribute to the development and maintenance of feeding behaviors in children with ASD. Treatments that address feeding problems in children with ASD may also need to address maternal behaviors.

A Multicomponent Behavioral Intervention to Reduce Stroke Risk Factor Behaviors: The Stroke Health and Risk Education Cluster-Randomized Controlled Trial.

BACKGROUND AND PURPOSE: The Stroke Health and Risk Education Project was a cluster-randomized, faith-based, culturally sensitive, theory-based multicomponent behavioral intervention trial to reduce key stroke risk factor behaviors in Hispanics/Latinos and European Americans. METHODS: Ten Catholic churches were randomized to intervention or control group. The intervention group received a 1-year multicomponent intervention (with poor adherence) that included self-help materials, tailored newsletters, and motivational interviewing counseling calls. Multilevel modeling, accounting for clustering within subject pairs and parishes, was used to test treatment differences in the average change since baseline (ascertained at 6 and 12 months) in dietary sodium, fruit and vegetable intake, and physical activity, measured using standardized questionnaires. A priori, the trial was considered successful if any one of the 3 outcomes was significant at the 0.05/3 level. RESULTS: Of 801 subjects who consented, 760 completed baseline data assessments, and of these, 86% completed at least one outcome assessment. The median age was 53 years; 84% subjects were Hispanic/Latino; and 64% subjects were women. The intervention group had a greater increase in fruit and vegetable intake than the control group (0.25 cups per day [95% confidence interval: 0.08, 0.42], P=0.002), a greater decrease in sodium intake (-123.17 mg/d [-194.76, -51.59], P=0.04), but no difference in change in moderate- or greater-intensity physical activity (-27 metabolic equivalent-minutes per week [-526, 471], P=0.56). CONCLUSIONS: This multicomponent behavioral intervention targeting stroke risk factors in predominantly Hispanics/Latinos was effective in increasing fruit and vegetable intake, reaching its primary end point. The intervention also seemed to lower sodium intake. Church-based health promotions can be successful in primary stroke prevention efforts. CLINICAL TRIAL REGISTRATION: URL: http://www.clinicaltrials.gov. Unique identifier: NCT01378780.

Creating a Novel Video Vignette Stroke Preparedness Outcome Measure Using a Community-Based Participatory Approach.

Evaluating the efficacy of behavioral interventions for rare outcomes is a challenge. One such topic is stroke preparedness, defined as inteventions to increase stroke symptom recognition and behavioral intent to call 911. Current stroke preparedness intermediate outcome measures are centered on written vignettes or open-ended questions and have been shown to poorly reflect actual behavior. Given that stroke identification and action requires aural and visual processing, video vignettes may improve on current measures. This article discusses an approach for creating a novel stroke preparedness video vignette intermediate outcome measure within a community-based participatory research partnership. A total of 20 video vignettes were filmed of which 13 were unambiguous (stroke or not stroke) as determined by stroke experts and had test discrimination among community participants. Acceptable reliability, high satisfaction, and cultural relevance were found among the 14 community respondents. A community-based participatory approach was effective in creating a video vignette intermediate outcome. Future projects should consider obtaining expert and community feedback prior to filming all the video vignettes to improve the proportion of vignettes that are usable. While content validity and preliminary reliability were established, future studies are needed to confirm the reliability and establish construct validity.

An emergency department intervention to increase warfarin use for atrial fibrillation.

BACKGROUND: Emergency department (ED) encounters represent lost opportunities to facilitate anticoagulation for stroke prevention in atrial fibrillation (AF). However, screening of warfarin eligibility in the ED may not be feasible. We evaluated whether a practical quality improvement initiative increased postdischarge warfarin use in ED patients with AF. METHODS: This quasiexperimental study was conducted in a single academic health system. Eligible subjects were consecutive patients with AF identified by electrocardiogram during an ED evaluation who were discharged from the ED or the subsequent hospitalization off warfarin. The study consisted of data collection during 2 time periods: (1) preintervention (October 2009 to April 2010), serving as a baseline, and (2) intervention (June 2010 to December 2010). The intervention consisted of a mailing to the subjects and their primary care physicians. The primary outcome was the proportion of subjects taking warfarin 1 month after ED presentation. Differences between the proportion of preintervention and intervention subjects taking warfarin and warfarin or aspirin were compared with Chi-square tests. RESULTS: At 1 month, 111 of 204 (55%) of the eligible preintervention and 90 of 160 (56%) of the eligible intervention group patients participated. There was no difference between the preintervention and intervention groups in the proportion of subjects taking warfarin at 1 month (12% v 9%; P = .54) or the proportion of subjects taking either aspirin or warfarin at 1 month (72% v 75%; P = .59). CONCLUSIONS: This practical stroke prevention quality improvement initiative was not associated with an increase in warfarin use among ED patients with AF.

Mitral annular disjunction on cardiac MRI: Prevalence and association with disease severity in Loeys-Dietz syndrome.

BACKGROUND: The purpose of this study was to evaluate mitral annular disjunction (MAD) on cardiac magnetic resonance imaging (MRI) in Loeys-Dietz Syndrome (LDS) and to explore its association with adverse outcomes. METHODS: In this retrospective cohort study, adult patients with LDS who underwent cardiac MRI were evaluated for MAD, aortic dimensions, and ventricular volumetry. Aortic events were defined as aortic surgery and/or dissection and severe arrhythmic events as cardiac arrest or sustained ventricular tachycardia (VT). RESULTS: Among 46 LDS patients (52% female, 37.2 ± 14.3 years), 17 had MAD (37%). MAD and no MAD groups were similar in age, sex, aortic dimensions and left ventricular parameters. After a clinical follow-up of 4.3 years (IQR 1.5-8.4), 3 in MAD and 4 in no MAD groups required aortic valve sparing root replacement (VSRR) and 1 in MAD developed type A dissection. Over a similar imaging follow-up period [4.1 years (IQR 2.7-9.1) vs. 3.2 years (IQR 1.0-9.0), p = 0.65], compared to baseline, increase in native aortic root size was significant only in MAD (39.4 ± 4.6 mm vs. 38.1 ± 5.3 mm, p = 0.02, 19.3 ± 2.4 mm/m2 vs. 18.7 ± 2.4 mm/m2, p = 0.01) compared to those without MAD. Patients with MAD were younger at first aortic event compared to those without (26.7 ± 11.5 years vs. 45.0 ± 14.9 years, p = 0.03). MAD distance correlated with need for VSRR, r = 0.57, p = 0.02. Two patients in the MAD group developed sustained VT. No cardiac arrest or death was observed. CONCLUSION: MAD is highly prevalent in LDS, associated with progressive aortic dilatation, and aortic events at younger age. MAD may be a marker of disease severity necessitating close surveillance.

Community-based participatory research: a new approach to engaging community members to rapidly call 911 for stroke.

BACKGROUND AND PURPOSE: Acute stroke treatments are underutilized primarily because of delayed hospital arrival. Using a community-based participatory research approach, we explored stroke self-efficacy, knowledge, and perceptions of stroke among a predominately African American population in Flint, Michigan. METHODS: In March 2010, a survey was administered to youth and adults after religious services at 3 churches and during 1 church health day. The survey consisted of vignettes (12 stroke, 4 nonstroke) to assess knowledge of stroke warning signs and behavioral intent to call 911. The survey also assessed stroke self-efficacy, personal knowledge of someone who had experienced a stroke, personal history of stroke, and barriers to calling 911. Linear regression models explored the association of stroke self-efficacy with behavioral intent to call 911 among adults. RESULTS: Two hundred forty-two adults and 90 youths completed the survey. Ninety-two percent of adults and 90% of youth respondents were African American. Responding to 12 stroke vignettes, adults would call 911 in 72% (SD, 0.26) of the vignettes, whereas youths would call 911 in 54% of vignettes (SD, 0.29; P<0.001). Adults correctly identified stroke in 51% (SD, 0.32) of the stroke vignettes and youth correctly identified stroke in 46% (SD, 0.28) of the stroke vignettes (P=0.28). Stroke self-efficacy predicted behavioral intent to call 911 (P=0.046). CONCLUSIONS: In addition to knowledge of stroke warning signs, behavioral interventions to increase both stroke self-efficacy and behavioral intent may be useful for helping people make appropriate 911 calls for stroke. A community-based participatory research approach may be effective in reducing stroke disparities.

Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease.

Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome in which carriers are at an increased risk of developing a variety of tumors in multiple organ systems. A clinical diagnosis of VHL is determined by the presence of specific clinical manifestations while a molecular genetic diagnosis results from a pathogenic variant in the VHL gene. The majority of mutations occur in VHL coding exons and DNA analysis of these regions has a reported sensitivity of nearly 100%. However, rare variants in the VHL gene promoter may be detected in some cases of suspected VHL disease. We report two cases where VHL promoter variants were detected and describe the role of multi-step mRNA and protein analysis in the diagnostic evaluation of these cases.

A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. Based on neurophysiological and neuropathological criteria CMT has been sub-classified into two main types: demyelinating and axonal. Furthermore, it is genetically heterogeneous with autosomal dominant, autosomal recessive (AR) and X-linked modes of inheritance. Thus far, seven genes have been identified in association with the demyelinating AR-CMT disease. We hereby report our clinical and molecular genetic findings in a consanguineous family with AR-CMT. METHODS: Two young sisters with AR-CMT and other non-affected family members were clinically and electrophysiologically evaluated and then molecular genetic investigation was carried out in order to identify the pathogenic mutation. RESULTS: Following an initial indication for linkage of the family to the CMT4A locus on chromosome 8, we sequenced the Ganglioside-induced differentiation-associated protein 1 (GDAP1) gene and identified a single nucleotide deletion in exon 3 that is associated with AR-CMT in the family. CONCLUSIONS: We identified a novel GDAP1 439delA mutation that is associated with AR-CMT in a consanguineous family of Iranian descent with two affected young girls and a history in other members of the family.

Stroke Ready Intervention: Community Engagement to Decrease Prehospital Delay.

BACKGROUND: Time-limited acute stroke treatments are underused, primarily due to prehospital delay. One approach to decreasing prehospital delay is to increase stroke preparedness, the ability to recognize stroke, and the intention to immediately call emergency medical services, through community engagement with high-risk communities. METHODS AND RESULTS: Our community-academic partnership developed and tested "Stroke Ready," a peer-led, workshop-based, health behavior intervention to increase stroke preparedness among African American youth and adults in Flint, Michigan. Outcomes were measured with a series of 9 stroke and nonstroke 1-minute video vignettes; after each video, participants selected their intended response (primary outcome) and symptom recognition (secondary outcome), receiving 1 point for each appropriate stroke response and recognition. We assessed differences between baseline and posttest appropriate stroke response, which was defined as intent to call 911 for stroke vignettes and not calling 911 for nonstroke, nonemergent vignettes and recognition of stroke. Outcomes assessments were performed before workshop 1 (baseline), at the conclusion of workshop 2 (immediate post-test), and 1 month later (delayed post-test). A total of 101 participants completed the baseline assessment (73 adults and 28 youths), 64 completed the immediate post-test, and 68 the delayed post-test. All participants were African American. The median age of adults was 56 (interquartile range 35-65) and of youth was 14 (interquartile range 11-16), 65% of adults were women, and 50% of youths were women. Compared to baseline, appropriate stroke response was improved in the immediate post-test (4.4 versus 5.2, P<0.01) and was sustained in the delayed post-test (4.4 versus 5.2, P<0.01). Stroke recognition did not change in the immediate post-test (5.9 versus 6.0, P=0.34), but increased in the delayed post-test (5.9 versus 6.2, P=0.04). CONCLUSIONS: Stroke Ready increased stroke preparedness, a necessary step toward increasing acute stroke treatment rates. CLINICAL TRIAL REGISTRATION: URL: https://www.clinicaltrials.gov/. Unique identifier: NCT01499173.

Anodal tDCS targeting the right orbitofrontal cortex enhances facial expression recognition.

The orbitofrontal cortex (OFC) has been implicated in the capacity to accurately recognise facial expressions. The aim of the current study was to determine if anodal transcranial direct current stimulation (tDCS) targeting the right OFC in healthy adults would enhance facial expression recognition, compared with a sham condition. Across two counterbalanced sessions of tDCS (i.e. anodal and sham), 20 undergraduate participants (18 female) completed a facial expression labelling task comprising angry, disgusted, fearful, happy, sad and neutral expressions, and a control (social judgement) task comprising the same expressions. Responses on the labelling task were scored for accuracy, median reaction time and overall efficiency (i.e. combined accuracy and reaction time). Anodal tDCS targeting the right OFC enhanced facial expression recognition, reflected in greater efficiency and speed of recognition across emotions, relative to the sham condition. In contrast, there was no effect of tDCS to responses on the control task. This is the first study to demonstrate that anodal tDCS targeting the right OFC boosts facial expression recognition. This finding provides a solid foundation for future research to examine the efficacy of this technique as a means to treat facial expression recognition deficits, particularly in individuals with OFC damage or dysfunction.

Positive Peer Reporting in the Classroom: a Review of Intervention Procedures.

Positive peer reporting (PPR) is a classroom-based intervention to improve social interactions between students using rewards and positive social attention. Along with a variant of the procedure referred to as "Tootling," PPR has demonstrated overwhelmingly positive results since its development. However, a unified, standard protocol for successful implementation of PPR interventions has not yet been established. A review of 24 studies, including 48 separately described cases of PPR in classroom settings, provided information concerning adaptations for students in special education, alternative school, and mainstream classrooms. Student participants ranged from preschool (age 4) to eighth grade (age 16). This paper summarizes the common procedural components found across cases described in the studies. A comparison of PPR-based interventions reported in the literature by various research teams also revealed differences in the procedures for targeting individuals or groups, providing training and support, allocating rewards, proceeding with daily peer report sessions, and terminating the intervention. Variations in specific procedural elements that may relate to PPR's effectiveness are discussed. The authors also provide suggestions to guide and support the advancement of standardized methods of PPR for future research and clinical application.

Local concentration of fast-food outlets is associated with poor nutrition and obesity.

PURPOSE: We investigated the relationship of the local availability of fast-food restaurant locations with diet and obesity. DESIGN: We geocoded addresses of survey respondents and fast-food restaurant locations to assess the association between the local concentration of fast-food outlets, BMI, and fruit and vegetable consumption. SETTING: The survey was conducted in Genesee County, Michigan. SUBJECTS: There were 1345 individuals included in this analysis, and the response rate was 25%. MEASURES: The Speak to Your Health! Community Survey included fruit and vegetable consumption items from the Behavioral Risk Factor Surveillance System, height, weight, and demographics. We used ArcGIS to map fast-food outlets and survey respondents. ANALYSIS: Stepwise linear regressions identified unique predictors of body mass index (BMI) and fruit and vegetable consumption. RESULTS: Survey respondents had 8 ± 7 fast-food outlets within 2 miles of their home. Individuals living in close proximity to fast-food restaurants had higher BMIs t(1342) = 3.21, p < .001, and lower fruit and vegetable consumption, t(1342) = 2.67, p = .008. CONCLUSION: Individuals may be at greater risk for adverse consequences of poor nutrition because of the patterns in local food availability, which may constrain the success of nutrition promotion efforts. Efforts to decrease the local availability of unhealthy foods as well as programs to help consumers identify strategies for obtaining healthy meals at fast-food outlets may improve health outcomes.

Individual and community determinants of calling 911 for stroke among African Americans in an urban community.

BACKGROUND: African Americans receive acute stroke treatment less often than non-Hispanic whites. Interventions to increase stroke preparedness (recognizing stroke warning signs and calling 911) may decrease the devastating effects of stroke by allowing more patients to be candidates for acute stroke therapy. In preparation for such an intervention, we used a community-based participatory research approach to conduct a qualitative study exploring perceptions of emergency medical care and stroke among urban African American youth and adults. METHODS AND RESULTS: Community partners, church health teams, and church leaders identified and recruited focus group participants from 3 black churches in Flint, MI. We conducted 5 youth (11-16 years) and 4 adult focus groups from November 2011 to March 2012. A content analysis approach was taken for analysis. Thirty-nine youth and 38 adults participated. Women comprised 64% of youth and 90% of adult focus group participants. All participants were black. Three themes emerged from the adult and youth data: (1) recognition that stroke is a medical emergency; (2) perceptions of difficulties within the medical system in an under-resourced community, and; (3) need for greater stroke education in the community. CONCLUSIONS: Black adults and youth have a strong interest in stroke preparedness. Designs of behavioral interventions to increase stroke preparedness should be sensitive to both individual and community factors contributing to the likelihood of seeking emergency care for stroke.

Stroke Health and Risk Education (SHARE): design, methods, and theoretical basis.

BACKGROUND: Stroke is a disease with tremendous individual, family, and societal impact across all race/ethnic groups. Mexican Americans, the largest subgroup of Hispanic Americans, are at even higher risk of stroke than European Americans. AIM: To test the effectiveness of a culturally sensitive, church-based, multi-component, motivational enhancement intervention for Mexican Americans and European Americans in reducing stroke risk factors. METHODS: Participants enroll in family or friendship pairs, from the same Catholic church in the Corpus Christi Texas area, and are encouraged to change diet and physical activity behaviors and provide support for behavior change to their partners. Churches are randomized to either the intervention or control group. Goal enrollment for each of the 10 participating churches is 40 participant pairs. The intervention consists of self-help materials (including a motivational short film, cookbook/healthy eating guide, physical activity guide with pedometer, and photonovella), five motivational interviewing calls, two tailored newsletters, parish health promotion activities and environmental changes, and a peer support workshop where participants learn to provide autonomy supportive counseling to their partner. SHARE's three primary outcomes are self-reported sodium intake, fruit and vegetable intake, and level of physical activity. Participants complete questionnaires and have measurements at baseline, six months, and twelve months. Persistence testing is performed at 18 months in the intervention group. The trial is registered with clinicaltrials.gov (NCT01378780).

Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression.

Detection of abnormal karyotypes with associated clinical manifestations is an important tool for the identification of genes that confer susceptibility to genetic disorders. We present a family with a duplication 11q14.1-q22.1 resulting from an unbalanced familial insertion, associated with a mild dysmorphic phenotype and mood disorders, mainly major depression. This relatively large duplication of a segment from chromosome 11 is associated with a surprisingly little physical phenotypic effect in this family. The finding of mood disorders in adult members of the family who carry the insertion supports the view that the duplication may be important for the identification of contributing gene(s) to mood disorders. Major depression is considered to be a complex trait with multiple genetic alterations interacting with environmental factors. Array-based comparative genome hybridization (array CGH) analysis with a 1 Mb genomic array, defined the duplication region that extended over 16 Mb from 11q14.1 to 11q22.1. Brain-expressed genes that map within this 16 Mb region, are considered worthy of further investigation as gene(s) contributing to the etiology of major depression.