Journal articles on the topic 'Facial expressivity'

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1

SIMONS, GWENDA, MARCIA C. SMITH PASQUALINI, VASUDEVI REDDY, and JULIA WOOD. "Emotional and nonemotional facial expressions in people with Parkinson's disease." Journal of the International Neuropsychological Society 10, no. 4 (July 2004): 521–35. http://dx.doi.org/10.1017/s135561770410413x.

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We investigated facial expressivity in 19 people with Parkinson's disease (PD; 14 men and 5 women) and 26 healthy controls (13 men and 13 women). Participants engaged in experimental situations that were designed to evoke emotional facial expressions, including watching video clips and holding conversations, and were asked to pose emotions and imitate nonemotional facial movements. Expressivity was measured with subjective rating scales, objective facial measurements (Facial Action Coding System), and self-report questionnaires. As expected, PD participants showed reduced spontaneous facial expressivity across experimental situations. PD participants also had more difficulty than controls posing emotional expressions and imitating nonemotional facial movements. Despite these difficulties, however, PD participants' overall level of expressivity was still tied to emotional experience and social context. (JINS, 2004, 10, 521–535.)
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Silvey, Brian A. "The Role of Conductor Facial Expression in Students’ Evaluation of Ensemble Expressivity." Journal of Research in Music Education 60, no. 4 (October 19, 2012): 419–29. http://dx.doi.org/10.1177/0022429412462580.

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The purpose of this study was to explore whether conductor facial expression affected the expressivity ratings assigned to music excerpts by high school band students. Three actors were videotaped while portraying approving, neutral, and disapproving facial expressions. Each video was duplicated twice and then synchronized with one of three professional wind ensemble recordings. Participants ( N = 133) viewed nine 1-min videos of varying facial expressions, actors, and excerpts and rated each ensemble’s expressivity on a 10-point rating scale. Results of a one-way repeated measures ANOVA indicated that conductor facial expression significantly affected ratings of ensemble expressivity ( p < .001, partial η2 = .15). Post hoc comparisons revealed that participants’ ensemble expressivity ratings were significantly higher for excerpts featuring approving facial expressions than for either neutral or disapproving expressions. Participants’ mean ratings were lowest for neutral facial expression excerpts, indicating that an absence of facial affect influenced evaluations of ensemble expressivity most negatively.
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Wu, Peng, Isabel Gonzalez, Georgios Patsis, Dongmei Jiang, Hichem Sahli, Eric Kerckhofs, and Marie Vandekerckhove. "Objectifying Facial Expressivity Assessment of Parkinson’s Patients: Preliminary Study." Computational and Mathematical Methods in Medicine 2014 (2014): 1–12. http://dx.doi.org/10.1155/2014/427826.

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Patients with Parkinson’s disease (PD) can exhibit a reduction of spontaneous facial expression, designated as “facial masking,” a symptom in which facial muscles become rigid. To improve clinical assessment of facial expressivity of PD, this work attempts to quantify the dynamic facial expressivity (facial activity) of PD by automatically recognizing facial action units (AUs) and estimating their intensity. Spontaneous facial expressivity was assessed by comparing 7 PD patients with 8 control participants. To voluntarily produce spontaneous facial expressions that resemble those typically triggered by emotions, six emotions (amusement, sadness, anger, disgust, surprise, and fear) were elicited using movie clips. During the movie clips, physiological signals (facial electromyography (EMG) and electrocardiogram (ECG)) and frontal face video of the participants were recorded. The participants were asked to report on their emotional states throughout the experiment. We first examined the effectiveness of the emotion manipulation by evaluating the participant’s self-reports. Disgust-induced emotions were significantly higher than the other emotions. Thus we focused on the analysis of the recorded data during watching disgust movie clips. The proposed facial expressivity assessment approach captured differences in facial expressivity between PD patients and controls. Also differences between PD patients with different progression of Parkinson’s disease have been observed.
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Woolley, J. D., B. Chuang, C. Fussell, S. Scherer, B. Biagianti, D. Fulford, D. H. Mathalon, and S. Vinogradov. "Intranasal oxytocin increases facial expressivity, but not ratings of trustworthiness, in patients with schizophrenia and healthy controls." Psychological Medicine 47, no. 7 (January 16, 2017): 1311–22. http://dx.doi.org/10.1017/s0033291716003433.

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BackgroundBlunted facial affect is a common negative symptom of schizophrenia. Additionally, assessing the trustworthiness of faces is a social cognitive ability that is impaired in schizophrenia. Currently available pharmacological agents are ineffective at improving either of these symptoms, despite their clinical significance. The hypothalamic neuropeptide oxytocin has multiple prosocial effects when administered intranasally to healthy individuals and shows promise in decreasing negative symptoms and enhancing social cognition in schizophrenia. Although two small studies have investigated oxytocin's effects on ratings of facial trustworthiness in schizophrenia, its effects on facial expressivity have not been investigated in any population.MethodWe investigated the effects of oxytocin on facial emotional expressivity while participants performed a facial trustworthiness rating task in 33 individuals with schizophrenia and 35 age-matched healthy controls using a double-blind, placebo-controlled, cross-over design. Participants rated the trustworthiness of presented faces interspersed with emotionally evocative photographs while being video-recorded. Participants’ facial expressivity in these videos was quantified by blind raters using a well-validated manualized approach (i.e. the Facial Expression Coding System; FACES).ResultsWhile oxytocin administration did not affect ratings of facial trustworthiness, it significantly increased facial expressivity in individuals with schizophrenia (Z = −2.33, p = 0.02) and at trend level in healthy controls (Z = −1.87, p = 0.06).ConclusionsThese results demonstrate that oxytocin administration can increase facial expressivity in response to emotional stimuli and suggest that oxytocin may have the potential to serve as a treatment for blunted facial affect in schizophrenia.
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Dobson, Seth. "Face to face with the social brain." Philosophical Transactions of the Royal Society B: Biological Sciences 367, no. 1597 (July 5, 2012): 1901–8. http://dx.doi.org/10.1098/rstb.2011.0224.

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Recent comparative evidence suggests that anthropoid primates are the only vertebrates to exhibit a quantitative relationship between relative brain size and social group size. In this paper, I attempt to explain this pattern with regard to facial expressivity and social bonding. I hypothesize that facial motor control increases as a secondary consequence of neocortical expansion owing to cortical innervation of the facial motor nucleus. This is supported by new analyses demonstrating correlated evolution between relative neocortex size and relative facial nucleus size. I also hypothesize that increased facial motor control correlates with enhanced emotional expressivity, which provides the opportunity for individuals to better gauge the trustworthiness of group members. This is supported by previous evidence from human psychology, as well as new analyses demonstrating a positive relationship between allogrooming and facial nucleus volume. I suggest new approaches to the study of primate facial expressivity in light of these hypotheses.
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Hildebrandt, A., S. Olderbak, W. Sommer, and O. Wilhelm. "Modeling individual differences in facial expressivity." Personality and Individual Differences 60 (April 2014): S36. http://dx.doi.org/10.1016/j.paid.2013.07.084.

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7

Peterson, Johnathan Caleb, Carly Jacobs, John Hibbing, and Kevin Smith. "In your face." Politics and the Life Sciences 37, no. 1 (2018): 53–67. http://dx.doi.org/10.1017/pls.2017.13.

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Research suggests that people can accurately predict the political affiliations of others using only information extracted from the face. It is less clear from this research, however, what particular facial physiological processes or features communicate such information. Using a model of emotion developed in psychology that treats emotional expressivity as an individual-level trait, this article provides a theoretical account of why emotional expressivity may provide reliable signals of political orientation, and it tests the theory in four empirical studies. We find statistically significant liberal/conservative differences in self-reported emotional expressivity, in facial emotional expressivity measured physiologically, in the perceived emotional expressivity and ideology of political elites, and in an experiment that finds that more emotionally expressive faces are perceived as more liberal.
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Hamm, Jihun, Amy Pinkham, Ruben C. Gur, Ragini Verma, and Christian G. Kohler. "Dimensional Information-Theoretic Measurement of Facial Emotion Expressions in Schizophrenia." Schizophrenia Research and Treatment 2014 (2014): 1–10. http://dx.doi.org/10.1155/2014/243907.

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Altered facial expressions of emotions are characteristic impairments in schizophrenia. Ratings of affect have traditionally been limited to clinical rating scales and facial muscle movement analysis, which require extensive training and have limitations based on methodology and ecological validity. To improve reliable assessment of dynamic facial expression changes, we have developed automated measurements of facial emotion expressions based on information-theoretic measures of expressivity ofambiguityanddistinctivenessof facial expressions. These measures were examined in matched groups of persons with schizophrenia (n=28) and healthy controls (n=26) who underwent video acquisition to assess expressivity of basic emotions (happiness, sadness, anger, fear, and disgust) in evoked conditions. Persons with schizophrenia scored higher onambiguity, the measure of conditional entropy within the expression of a single emotion, and they scored lower ondistinctiveness, the measure of mutual information across expressions of different emotions. The automated measures compared favorably with observer-based ratings. This method can be applied for delineating dynamic emotional expressivity in healthy and clinical populations.
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Pickens, Jeffrey, and Tiffany Field. "Facial expressivity in infants of depressed mothers." Developmental Psychology 29, no. 6 (1993): 986–88. http://dx.doi.org/10.1037/0012-1649.29.6.986.

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Blonder, L. X., A. F. Burns, D. Bowers, R. W. Moore, and K. M. Heilman. "Right Hemisphere Facial Expressivity During Natural Conversation." Brain and Cognition 21, no. 1 (January 1993): 44–56. http://dx.doi.org/10.1006/brcg.1993.1003.

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Boazak, Mina, and Robert Cotes. "53 Computer Vision, Facial Expressivity and Schizophrenia: A Review." CNS Spectrums 24, no. 1 (February 2019): 204–5. http://dx.doi.org/10.1017/s1092852919000439.

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AbstractIntroductionFacial expressivity in schizophrenia has been a topic of clinical interest for the past century. Besides the schizophrenia sufferers difficulty decoding the facial expressions of others, they often have difficulty encoding facial expressions. Traditionally, evaluations of facial expressions have been conducted by trained human observers using the facial action coding system. The process was slow and subject to intra and inter-observer variability. In the past decade the traditional facial action coding system developed by Ekman has been adapted for use in affective computing. Here we assess the applications of this adaptation for schizophrenia, the findings of current groups, and the future role of this technology.Materials and MethodsWe review the applications of computer vision technology in schizophrenia using pubmed and google scholar search criteria of “computer vision” AND “Schizophrenia” from January of 2010 to June of 2018.ResultsFive articles were selected for inclusion representing 1 case series and 4 case-control analysis. Authors assessed variations in facial action unit presence, intensity, various measures of length of activation, action unit clustering, congruence, and appropriateness. Findings point to variations in each of these areas, except action unit appropriateness, between control and schizophrenia patients. Computer vision techniques were also demonstrated to have high accuracy in classifying schizophrenia from control patients, reaching an AUC just under 0.9 in one study, and to predict psychometric scores, reaching pearson’s correlation values of under 0.7.DiscussionOur review of the literature demonstrates agreement in findings of traditional and contemporary assessment techniques of facial expressivity in schizophrenia. Our findings also demonstrate that current computer vision techniques have achieved capacity to differentiate schizophrenia from control populations and to predict psychometric scores. Nevertheless, the predictive accuracy of these technologies leaves room for growth. On analysis our group found two modifiable areas that may contribute to improving algorithm accuracy: assessment protocol and feature inclusion. Based on our review we recommend assessment of facial expressivity during a period of silence in addition to an assessment during a clinically structured interview utilizing emotionally evocative questions. Furthermore, where underfit is a problem we recommend progressive inclusion of features including action unit activation, intensity, action unit rate of onset and offset, clustering (including richness, distribution, and typicality), and congruence. Inclusion of each of these features may improve algorithm predictive accuracy.ConclusionWe review current applications of computer vision in the assessment of facial expressions in schizophrenia. We present the results of current innovative works in the field and discuss areas for continued development.
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Kupferberg, Susan, Mary K. Morris, and Roger Bakeman. "Spontaneous Facial Expressivity in Children with Acquired Brain Injury." Journal of Head Trauma Rehabilitation 16, no. 6 (December 2001): 573–86. http://dx.doi.org/10.1097/00001199-200112000-00005.

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MARTIN, JEAN-CLAUDE, RADOSLAW NIEWIADOMSKI, LAURENCE DEVILLERS, STEPHANIE BUISINE, and CATHERINE PELACHAUD. "MULTIMODAL COMPLEX EMOTIONS: GESTURE EXPRESSIVITY AND BLENDED FACIAL EXPRESSIONS." International Journal of Humanoid Robotics 03, no. 03 (September 2006): 269–91. http://dx.doi.org/10.1142/s0219843606000825.

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One of the challenges of designing virtual humans is the definition of appropriate models of the relation between realistic emotions and the coordination of behaviors in several modalities. In this paper, we present the annotation, representation and modeling of multimodal visual behaviors occurring during complex emotions. We illustrate our work using a corpus of TV interviews. This corpus has been annotated at several levels of information: communicative acts, emotion labels, and multimodal signs. We have defined a copy-synthesis approach to drive an Embodied Conversational Agent from these different levels of information. The second part of our paper focuses on a model of complex (superposition and masking of) emotions in facial expressions of the agent. We explain how the complementary aspects of our work on corpus and computational model is used to specify complex emotional behaviors.
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Roumell, Neena, Diane Wille, Lauren Abramson, and Virginia Delaney. "Facial expressivity to acute pain in cocaine-exposed toddlers." Infant Mental Health Journal 18, no. 3 (1997): 274–81. http://dx.doi.org/10.1002/(sici)1097-0355(199723)18:3<274::aid-imhj4>3.0.co;2-n.

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Bennett, David S., Margaret Bendersky, and Michael Lewis. "Facial Expressivity at 4 Months: A Context by Expression Analysis." Infancy 3, no. 1 (January 1, 2002): 97–113. http://dx.doi.org/10.1207/s15327078in0301_5.

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Malatesta-Magai, Carol, Sharon Leak, Johanna Tesman, Beth Shepard, Clayton Culver, and Beatrice Smaggia. "Proffles of Emotional Development: Individual Differences in Facial and Vocal Expression of Emotion during the Second and Third Years of Life." International Journal of Behavioral Development 17, no. 2 (June 1994): 239–69. http://dx.doi.org/10.1177/016502549401700202.

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This study is a third-year (34 months) follow-up investigation of the socioemotional behaviours of preterm and fullterm children previously seen at four points in time during the first two years of life. A total of 42 mother/ child pairs were seen for videotaped mother/child and child/peer play sessions. The tapes were coded on a second-to-second basis using Izard's MAX facial affect coding system and a vocal affect coding system. Data analysis focused on the contribution of the individual difference variables of gender, birth status, attachment classification, and maternal contingency behaviour, to children's expressive development. Expressive patterns in the third year were also compared with those obtained during the children's second year. Results indicated that contrary to developmental theory, facial expressivity does not decrease, at least during this developmental period, and moreover, that vocal affective expression increases. It is suggested that what children learn in development, is greater flexibility in the use of different systems to communicate affect, and greater facility in modulating expressivity according to context. Birth status was found to continue to affect the nature of affective development into the third year; preterm children were less vocally expressive than their fullterm counterparts, and preterm females showed greater facial negativity. Few other gender differences in expressivity were apparent, although mothers treated their children differentially. Moderate maternal contingency in infancy was related to greater vocal affectivity in children. Insecure attachment was associated with a degree of apparent tension and affective disharmony.
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Lai, Philip To. "Expressivity in children with autism and Williams syndrome." Advances in Autism 6, no. 4 (June 30, 2020): 277–88. http://dx.doi.org/10.1108/aia-11-2019-0044.

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Purpose The purpose of this study is to investigate the social and affective aspects of communication in school-age children with HFA and school-age children with WS using a micro-analytic approach. Social communication is important for success at home, school, work and in the community. Lacking the ability to effectively process and convey information can lead to deficits in social communication. Individuals with high functioning autism (HFA) and individuals with Williams syndrome (WS) often have significant impairments in social communication that impact their relationships with others. Currently, little is known about how school-age children use and integrate verbal and non-verbal behaviors in the context of a social interaction. Design/methodology/approach A micro-analytic coding scheme was devised to reveal which channels children use to convey information. Language, eye gaze behaviors and facial expressions of the child were coded during this dyadic social interaction. These behaviors were coded throughout the entire interview, as well as when the child was the speaker and when the child was the listener. Findings Language results continue to pose problems for the HFA and WS groups compared to their typically developing (TD) peers. For non-verbal communicative behaviors, a qualitative difference in the use of eye gaze was found between the HFA and WS groups. For facial expression, the WS and TD groups produced more facial expressions than the HFA group. Research limitations/implications No differences were observed in the HFA group when playing different roles in a conversation, suggesting they are not as sensitive to the social rules of a conversation as their peers. Insights from this study add knowledge toward understanding social-communicative development in school-age children. Originality/value In this study, two non-verbal behaviors will be assessed in multiple contexts: the entire biographical interview, when the child is the speaker and when the child is the listener. These social and expressive measures give an indication of how expressive school-age children are and provide information on their attention, affective state and communication skills when conversing with an adult. Insights from this study will add knowledge toward understanding social-communicative development in school-age children.
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Zempelin, Svenja, Karolina Sejunaite, Claudia Lanza, and Matthias W. Riepe. "Emotion induction in young and old persons on watching movie segments: Facial expressions reflect subjective ratings." PLOS ONE 16, no. 6 (June 18, 2021): e0253378. http://dx.doi.org/10.1371/journal.pone.0253378.

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Film clips are established to induce or intensify mood states in young persons. Fewer studies address induction of mood states in old persons. Analysis of facial expression provides an opportunity to substantiate subjective mood states with a psychophysiological variable. We investigated healthy young (YA; n = 29; age 24.4 ± 2.3) and old (OA; n = 28; age 69.2 ± 7.4) participants. Subjects were exposed to film segments validated in young adults to induce four basic emotions (anger, disgust, happiness, sadness). We analyzed subjective mood states with a 7-step Likert scale and facial expressions with an automated system for analysis of facial expressions (FaceReader™ 7.0, Noldus Information Technology b.v.) for both the four target emotions as well as concomitant emotions. Mood expressivity was analysed with the Berkeley Expressivity Questionnaire (BEQ) and the Short Suggestibility Scale (SSS). Subjective mood intensified in all target emotions in the whole group and both YA and OA subgroups. Facial expressions of mood intensified in the whole group for all target emotions except sadness. Induction of happiness was associated with a decrease of sadness in both subjective and objective assessment. Induction of sadness was observed with subjective assessment and accompanied by a decrease of happiness in both subjective and objective assessment. Regression analysis demonstrated pre-exposure facial expressions and personality factors (BEQ, SSS) to be associated with the intensity of facial expression on mood induction. We conclude that mood induction is successful regardless of age. Analysis of facial expressions complement self-assessment of mood and may serve as a means of objectification of mood change. The concordance between self-assessment of mood change and facial expression is modulated by personality factors.
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Murry, Matthew W. E., and Derek M. Isaacowitz. "Age differences in emotion perception." International Journal of Behavioral Development 41, no. 5 (September 6, 2016): 597–604. http://dx.doi.org/10.1177/0165025416667493.

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Older adults tend to have lower emotion-perception accuracy compared to younger adults. Previous studies have centered on individual characteristics, including cognitive decline and positive attentional preferences, as possible mechanisms underlying these age differences in emotion perception; however, thus far, no perceiver-focused factor has accounted for the age differences. The present study focuses on perceived social-context factors and uses the Social Input Model as the framework for investigating the relation between the expressivity of the social environment and emotion-perception accuracy in younger and older adults. Younger ( n = 32) and older adults ( n = 29) reported on the make-up of their social circles and the expressivity of their three closest social partners and then completed a static facial emotion-perception task. Older adults reported greater positive and negative expressivity in their social partners compared to younger adults. Moreover, older adults were marginally less accurate than younger adults when perceiving emotions. Positive expressivity of the social partners predicted lower emotion-perception accuracy in younger but not older adults. Our findings mark the first step to identifying possible characteristics of the social environment that may contribute to the age difference in emotion-perception accuracy.
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Varcin, Kandice J., Matthew R. Nangle, Julie D. Henry, Phoebe E. Bailey, and Jenny L. Richmond. "Intact spontaneous emotional expressivity to non-facial but not facial stimuli in schizophrenia: An electromyographic study." Schizophrenia Research 206 (April 2019): 37–42. http://dx.doi.org/10.1016/j.schres.2018.12.019.

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Nafziger, Yolande Jung. "A study of patient facial expressivity in relation to orthodontic/surgical treatment." American Journal of Orthodontics and Dentofacial Orthopedics 106, no. 3 (September 1994): 227–37. http://dx.doi.org/10.1016/s0889-5406(94)70041-9.

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Malatesta, Carol Z., Ruth Jonas, and Carroll E. Izard. "The relation between low facial expressivity during emotional arousal and somatic symptoms." British Journal of Medical Psychology 60, no. 2 (June 1987): 169–80. http://dx.doi.org/10.1111/j.2044-8341.1987.tb02728.x.

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Gupta, Tina, Claudia M. Haase, Gregory P. Strauss, Alex S. Cohen, and Vijay A. Mittal. "Alterations in facial expressivity in youth at clinical high-risk for psychosis." Journal of Abnormal Psychology 128, no. 4 (May 2019): 341–51. http://dx.doi.org/10.1037/abn0000413.

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Stifter, Cynthia A., Nathan A. Fox, and Stephen W. Porges. "Facial expressivity and vagal tone in 5- and 10-month-old infants." Infant Behavior and Development 12, no. 2 (April 1989): 127–37. http://dx.doi.org/10.1016/0163-6383(89)90001-5.

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Zeghari, Radia, Alexandra König, Rachid Guerchouche, Garima Sharma, Jyoti Joshi, Roxane Fabre, Philippe Robert, and Valeria Manera. "Correlations Between Facial Expressivity and Apathy in Elderly People With Neurocognitive Disorders: Exploratory Study." JMIR Formative Research 5, no. 3 (March 31, 2021): e24727. http://dx.doi.org/10.2196/24727.

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Background Neurocognitive disorders are often accompanied by behavioral symptoms such as anxiety, depression, and/or apathy. These symptoms can occur very early in the disease progression and are often difficult to detect and quantify in nonspecialized clinical settings. Objective We focus in this study on apathy, one of the most common and debilitating neuropsychiatric symptoms in neurocognitive disorders. Specifically, we investigated whether facial expressivity extracted through computer vision software correlates with the severity of apathy symptoms in elderly subjects with neurocognitive disorders. Methods A total of 63 subjects (38 females and 25 males) with neurocognitive disorder participated in the study. Apathy was assessed using the Apathy Inventory (AI), a scale comprising 3 domains of apathy: loss of interest, loss of initiation, and emotional blunting. The higher the scale score, the more severe the apathy symptoms. Participants were asked to recall a positive and a negative event of their life, while their voice and face were recorded using a tablet device. Action units (AUs), which are basic facial movements, were extracted using OpenFace 2.0. A total of 17 AUs (intensity and presence) for each frame of the video were extracted in both positive and negative storytelling. Average intensity and frequency of AU activation were calculated for each participant in each video. Partial correlations (controlling for the level of depression and cognitive impairment) were performed between these indexes and AI subscales. Results Results showed that AU intensity and frequency were negatively correlated with apathy scale scores, in particular with the emotional blunting component. The more severe the apathy symptoms, the less expressivity in specific emotional and nonemotional AUs was displayed from participants while recalling an emotional event. Different AUs showed significant correlations depending on the sex of the participant and the task’s valence (positive vs negative story), suggesting the importance of assessing male and female participants independently. Conclusions Our study suggests the interest of employing computer vision-based facial analysis to quantify facial expressivity and assess the severity of apathy symptoms in subjects with neurocognitive disorders. This may represent a useful tool for a preliminary apathy assessment in nonspecialized settings and could be used to complement classical clinical scales. Future studies including larger samples should confirm the clinical relevance of this kind of instrument.
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Waller, B. M., A. Misch, J. Whitehouse, and E. Herrmann. "Children, but not chimpanzees, have facial correlates of determination." Biology Letters 10, no. 3 (March 2014): 20130974. http://dx.doi.org/10.1098/rsbl.2013.0974.

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Facial expressions have long been proposed to be important agents in forming and maintaining cooperative interactions in social groups. Human beings are inordinately cooperative when compared with their closest-living relatives, the great apes, and hence one might expect species differences in facial expressivity in contexts in which cooperation could be advantageous. Here, human children and chimpanzees were given an identical task designed to induce an element of frustration (it was impossible to solve). In children, but not chimpanzees, facial expressions associated with effort and determination positively correlated with persistence at the task. By contrast, bodily indicators of stress (self-directed behaviour) negatively correlated with task persistence in chimpanzees. Thus, children exhibited more behaviour as they persisted, and chimpanzees exhibited less. The facial expressions produced by children, could, therefore, function to solicit prosocial assistance from others.
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Segal, Nancy L. "Twins and Politics: Political Careers and Political Attitudes / Twin Research Reviews: Pair-Bonding; Facial Expressivity in Reared Apart Twins; Educating Multiples / Stories That Move and Amaze Us: A Military Funeral; A Twins' Reunion; Egyptian Septuplets; Rare Occupations." Twin Research and Human Genetics 11, no. 6 (December 1, 2008): 656–60. http://dx.doi.org/10.1375/twin.11.6.656.

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AbstractTwins and twin research are providing fresh insights into the roots of political behavior. This topic is approached from dual perspectives: why some individuals choose to become politicians, and why individuals vary in their political attitudes and interests. Reviews of timely twin studies in the areas of pair-bonding, facial expressivity and education follow. Finally, some extraordinary events in the lives of twins and their families are revealed.
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Field, Tiffany. "Individual differences in facial expressivity among singleton, monozygotic and dizygotic twin new-borns." Infant Behavior and Development 9 (April 1986): 124. http://dx.doi.org/10.1016/s0163-6383(86)80126-6.

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Stagg, Steven D., Rachel Slavny, Charlotte Hand, Alice Cardoso, and Pamela Smith. "Does facial expressivity count? How typically developing children respond initially to children with autism." Autism 18, no. 6 (October 11, 2013): 704–11. http://dx.doi.org/10.1177/1362361313492392.

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Wagner, Amy W., Lizabeth Roemer, Susan M. Orsillo, and Brett T. Litz. "Emotional experiencing in women with posttraumatic stress disorder: Congruence between facial expressivity and self-report." Journal of Traumatic Stress 16, no. 1 (February 2003): 67–75. http://dx.doi.org/10.1023/a:1022015528894.

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Dethier, Marie, Maya El Hawa, Régis Duchateau, and Sylvie Blairy. "Emotional Facial Expression Recognition and Expressivity in Type I and Type II Alcohol Dependent Patients." Journal of Nonverbal Behavior 38, no. 1 (October 11, 2013): 89–105. http://dx.doi.org/10.1007/s10919-013-0161-1.

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Uberos, J., L. Moreno, and A. Muñoz-Hoyos. "Hypertension and Biliary Ductopenia in a Patient with Duplication of Exon 6 of the JAG1 Gene." Clinical Medicine Insights: Pediatrics 6 (January 2012): CMPed.S9621. http://dx.doi.org/10.4137/cmped.s9621.

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We describe a neonatal patient with biliary ductopenia featuring duplication of exon 6 of the JAG1 gene. Facial alterations were observed, consisting of a prominent forehead, sunken eyes, upward slanting palpebral fissures, hypertelorism, flat nasal root and prominent chin. From birth, these were accompanied by the development of haematuria and renal failure and by renal Doppler findings indicative of peripheral renal artery stenosis. JAG1 gene mutations on chromosome 20 have been associated with various anomalies, including biliary cholestasis, vertebral abnormalities, eye disorders, heart defects and facial dysmorphia. This syndrome, first described by Alagille, is an infrequent congenital disorder caused by a dominant autosomal inheritance with variable expressivity. Anatomopathological effects include the destruction and disappearance of hepatic bile ducts (ductopenia). The duplication of exon 6 of JAG1 has not previously been described as an alteration related to the Alagille syndrome with peripheral renal artery stenosis.
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Christensen, Julia F., Anna Lambrechts, and Manos Tsakiris. "The Warburg Dance Movement Library—The WADAMO Library: A Validation Study." Perception 48, no. 1 (December 17, 2018): 26–57. http://dx.doi.org/10.1177/0301006618816631.

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The Warburg Dance Movement Library is a validated set of 234 video clips of dance movements for empirical research in the fields of cognitive science and neuroscience of action perception, affect perception and neuroaesthetics. The library contains two categories of video clips of dance movement sequences. Of each pair, one version of the movement sequence is emotionally expressive (Clip a), while the other version of the same sequence (Clip b) is not expressive but as technically correct as the expressive version (Clip a). We sought to complement previous dance video stimuli libraries. Facial information, colour and music have been removed, and each clip has been faded in and out. We equalised stimulus length (6 seconds, 8 counts in dance theory), the dancers’ clothing and video background and included both male and female dancers, and we controlled for technical correctness of movement execution. The Warburg Dance Movement Library contains both contemporary and ballet movements. Two online surveys ( N = 160) confirmed the classification into the two categories of expressivity. Four additional online surveys ( N = 80) provided beauty and liking ratings for each clip. A correlation matrix illustrates all variables of this norming study (technical correctness, expressivity, beauty, liking, luminance, motion energy).
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Dumer, Aleksey I., Harriet Oster, David McCabe, Laura A. Rabin, Jennifer L. Spielman, Lorraine O. Ramig, and Joan C. Borod. "Effects of the Lee Silverman Voice Treatment (LSVT® LOUD) on Hypomimia in Parkinson's Disease." Journal of the International Neuropsychological Society 20, no. 3 (February 13, 2014): 302–12. http://dx.doi.org/10.1017/s1355617714000046.

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AbstractGiven associations between facial movement and voice, the potential of the Lee Silverman Voice Treatment (LSVT) to alleviate decreased facial expressivity, termed hypomimia, in Parkinson's disease (PD) was examined. Fifty-six participants—16 PD participants who underwent LSVT, 12 PD participants who underwent articulation treatment (ARTIC), 17 untreated PD participants, and 11 controls without PD—produced monologues about happy emotional experiences at pre- and post-treatment timepoints (“T1” and “T2,” respectively), 1 month apart. The groups of LSVT, ARTIC, and untreated PD participants were matched on demographic and health status variables. The frequency and variability of facial expressions (Frequency and Variability) observable on 1-min monologue videorecordings were measured using the Facial Action Coding System (FACS). At T1, the Frequency and Variability of participants with PD were significantly lower than those of controls. Frequency and Variability increases of LSVT participants from T1 to T2 were significantly greater than those of ARTIC or untreated participants. Whereas the Frequency and Variability of ARTIC participants at T2 were significantly lower than those of controls, LSVT participants did not significantly differ from controls on these variables at T2. The implications of these findings, which suggest that LSVT reduces parkinsonian hypomimia, for PD-related psychosocial problems are considered. (JINS, 2014, 20, 1–11)
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Hurley, Carolyn M., Wen Jing Teo, Janell Kwok, Tessa Seet, Erika Peralta, and Shuang Yu Chia. "Diversity from within: The Impact of Cultural Variables on Emotion Expressivity in Singapore." International Journal of Psychological Studies 8, no. 3 (June 26, 2016): 50. http://dx.doi.org/10.5539/ijps.v8n3p50.

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<p>Culture is intrinsically linked with emotion expression, as culture provides rules regarding how to manage emotions when they occur. Thus far, existing literature has extensively compared norms for emotional expression and suppression, revealing significant differences among culturally distinct but also geographically distant groups (e.g., “collectivistic” Chinese versus “individualistic” U.S. Americans). The present study examines the impact of cultural diversity within Singapore, a heterogeneous Asian nation of 5.4 million residents. Using an expression suppression paradigm, eighty-three participants viewed emotion eliciting video clips and their expressions were analyzed according to the Emotion Facial Action Coding System (EmFACS, Ekman, Irwin, &amp; Rosenberg, 1994) for signs of happiness and disgust. Participants tasked to manage their expression were successful; however cultural indicators such as ethnicity, collectivism, and concern for face affected expressivity under both suppression and natural expression conditions. These results emphasize the importance of exploring culture within national boundaries, as multiple cultural factors (e.g., ethnic groupings, values, and face) influenced expression.</p>
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Troisi, Alfonso, Enrico Pompili, Luigi Binello, and Alessandro Sterpone. "Facial expressivity during the clinical interview as a predictor functional disability in schizophrenia. A pilot study." Progress in Neuro-Psychopharmacology and Biological Psychiatry 31, no. 2 (March 2007): 475–81. http://dx.doi.org/10.1016/j.pnpbp.2006.11.016.

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37

Bennett, David S., Margaret Bendersky, and Michael Lewis. "Does the Organization of Emotional Expression Change Over Time? Facial Expressivity From 4 to 12 Months." Infancy 8, no. 2 (September 1, 2005): 167–87. http://dx.doi.org/10.1207/s15327078in0802_4.

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38

Kumazaki, Hirokazu, Taro Muramatsu, Yuichiro Yoshikawa, Yoshio Matsumoto, Masutomo Miyao, Hiroshi Ishiguro, Masaru Mimura, Yoshio Minabe, and Mitsuru Kikuchi. "Tele-Operating an Android Robot to Promote the Understanding of Facial Expressions and to Increase Facial Expressivity in Individuals With Autism Spectrum Disorder." American Journal of Psychiatry 174, no. 9 (September 2017): 904–5. http://dx.doi.org/10.1176/appi.ajp.2017.17030257.

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39

Lopes, Nilza, Eliana Caran, Maria Lucia Lee, Nasjla Saba Silva, André Caroli Rocha, and Carla Macedo. "Gorlin-Goltz Syndrome and Neoplasms: A Case Study." Journal of Clinical Pediatric Dentistry 35, no. 2 (December 1, 2010): 203–6. http://dx.doi.org/10.17796/jcpd.35.2.x01248284w166485.

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Gorlin syndrome is a rare autosomal dominant disorder exhibiting high penetrance and variable expressivity. It is characterized by facial dysmorphism, skeletal anomalies, multiple basal cell carcinomas, odontogenic keratocysts (OKC), palmar and plantar pits, bifid ribs, vertebral anomalies and a variety of other malformations. Various neoplasms, such as medulloblastomas, meningiomas, ovarian and cardiac fibromas are also found in this syndrome. Objective: To describe a twelve-year-old patient with Gorlin-Goltz syndrome,with basal cell carcinomas and promyelocytic leukemia developed after receiving craniospinal radiation for a medulloblastoma. Bifid ribs as well as mandibular and maxillar OKC were also diagnosed. Conclusion:The patient with Gorlin-Goltz syndrome should receive close follow-up for early detection of malformations and malignant neoplasias.
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Wearne, Travis, Katherine Osborne-Crowley, Hannah Rosenberg, Marie Dethier, and Skye McDonald. "Emotion recognition depends on subjective emotional experience and not on facial expressivity: evidence from traumatic brain injury." Brain Injury 33, no. 1 (October 8, 2018): 12–22. http://dx.doi.org/10.1080/02699052.2018.1531300.

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41

Deutsch, Stephen I., and C. Teal Raffaele. "Understanding facial expressivity in autism spectrum disorder: An inside out review of the biological basis and clinical implications." Progress in Neuro-Psychopharmacology and Biological Psychiatry 88 (January 2019): 401–17. http://dx.doi.org/10.1016/j.pnpbp.2018.05.009.

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Garg, Sandeep, Rama Bharti, Govind Jindal, Supreet Kaur, Mehak Goyal, and Gupta Pragati. "Gorlin–Goltz Syndrome: Report of Two Cases." International Journal of Clinical Dentistry and Research 1, no. 1 (2017): 49–54. http://dx.doi.org/10.5005/jp-journals-10060-0011.

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ABSTRACT Gorlin–Goltz syndrome is an uncommon autosomal dominant inherited disorder with complete penetrance and extreme variable expressivity. It is characterized by multiple odontogenic keratocysts and basal cell carcinomas; skeletal, dental, ophthalmic, and neurological abnormalities; intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism. Due to importance of oral maxillofacial manifestations of this syndrome, it is important to know its characteristics in order to make diagnosis and to provide an early preventive treatment. The purpose of this article is to present a report of two cases who reported to the Department of Oral and Maxillofacial Surgery, with features of Gorlin–Goltz syndrome in association with multiple odontogenic keratocysts in the maxillofacial region. How to cite this article Bharti R, Jindal G, Garg S, Kaur S, Goyal M, Gupta P. Gorlin–Goltz Syndrome: Report of Two Cases. Int J Clin Dent Res 2017;1(1):49-54.
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Pinchefsky, Elana, Laurence Laneuville, and Myriam Srour. "Distal 22q11.2 Microduplication." Child Neurology Open 4 (January 1, 2017): 2329048X1773765. http://dx.doi.org/10.1177/2329048x17737651.

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Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 microduplication and a paternally inherited 0.25 Mb chromosome 4p14 microduplication. The authors review clinical features of 30 reported cases of distal 22q11.2 duplications. Common features include developmental delay (93%), neuropsychiatric features (26%), and nonspecific facial dysmorphisms (74%). In 70% of cases, the distal 22q11.2 duplications were inherited, and the majority of the carrier parents were phenotypically normal. Furthermore, 30% of probands carried an additional copy number variant. Review of the phenotype in individuals carrying microduplications involving similar low copy repeats (LCR) failed to establish any clear genotype–phenotype correlations. Distal 22q11.2 duplications represent a major challenge for genetic counseling and prediction of clinical consequences. Our report suggests a pathogenic role of distal 22q11.2 duplications and supports a “multiple hit” hypothesis underlying its variable expressivity and phenotypic severity.
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Polityńska, B., O. Pokorska, A. Łukaszyk-Spryszak, and A. Kowalewicz. "Altered communication in Parkinson’s disease, its role in stigmatisation of the condition and effect on social relationships." Progress in Health Sciences 1 (June 11, 2019): 147–55. http://dx.doi.org/10.5604/01.3001.0013.3706.

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</br>Communication difficulties in Parkinson’s disease (PD) arise not only as the result of the motor symptoms of the disorder, but also as a consequence of cognitive and affective impairments which are recognised as being part of the disease process. These changes are thought to account for much of the stigma associated with the condition, thereby complicating the ability of patients to inter-relate with others, including their closest family. This inevitably affects quality of life for both the patient and those family members involved in his/her care. <br/>The present paper presents an analysis of how the deficits in motor and cognitive function associated with PD in the form of reduced facial expressivity, altered language skills, motor and cognitive slowness and disturbances in the pragmatic aspects of language affect the communication abilities of patients with the disorder and give rise to stigmatisation, which in turn impacts the disability seen in PD.
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Rychlowska, Magdalena, Yuri Miyamoto, David Matsumoto, Ursula Hess, Eva Gilboa-Schechtman, Shanmukh Kamble, Hamdi Muluk, Takahiko Masuda, and Paula Marie Niedenthal. "Heterogeneity of long-history migration explains cultural differences in reports of emotional expressivity and the functions of smiles." Proceedings of the National Academy of Sciences 112, no. 19 (April 20, 2015): E2429—E2436. http://dx.doi.org/10.1073/pnas.1413661112.

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A small number of facial expressions may be universal in that they are produced by the same basic affective states and recognized as such throughout the world. However, other aspects of emotionally expressive behavior vary widely across culture. Just why do they vary? We propose that some cultural differences in expressive behavior are determined by historical heterogeneity, or the extent to which a country’s present-day population descended from migration from numerous vs. few source countries over a period of 500 y. Our reanalysis of data on cultural rules for displaying emotion from 32 countries [n = 5,340; Matsumoto D, Yoo S, Fontaine J (2008) J Cross Cult Psychol 39(1):55–74] reveals that historical heterogeneity explains substantial, unique variance in the degree to which individuals believe that emotions should be openly expressed. We also report an original study of the underlying states that people believe are signified by a smile. Cluster analysis applied to data from nine countries (n = 726), including Canada, France, Germany, India, Indonesia, Israel, Japan, New Zealand, and the United States, reveals that countries group into “cultures of smiling” determined by historical heterogeneity. Factor analysis shows that smiles sort into three social-functional subtypes: pleasure, affiliative, and dominance. The relative importance of these smile subtypes varies as a function of historical heterogeneity. These findings thus highlight the power of social-historical factors to explain cross-cultural variation in emotional expression and smile behavior.
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46

M.G, Franco. "EXPRESSIVIDADE E REGULAÇÃO EMOCIONAL EM ESTUDANTES DO ENSINO SUPERIOR." International Journal of Developmental and Educational Psychology. Revista INFAD de Psicología. 5, no. 1 (December 21, 2016): 477. http://dx.doi.org/10.17060/ijodaep.2014.n1.v5.709.

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Abstract.EXPRESSIVITY AND EMOTIONAL REGULATION IN COLLEGE STUDENTSEmotions have a great adaptive value for individuals, allowing them to challenges the opportunities offered by the environment (Plutnchik , 1990) . So this study is important the utmost importance in education contexts. By emotional expressiveness is meant changes in behavior (eg , facial and postural accompanying emotions such as crying, laughing , blushing ) ( Gross & John , 1998) . Despite this multidimensional view of emotional expressiveness not be the only (there is a great proliferation) this view and adds that greater agreement among authors. In turn, emotional regulation refers to all of the strategies used to reduce, maintain or increase an emotion (Gross, 2001) . The strategies of emotional regulation are implicated in personality, emotions on cognition in social development (including resilience ). The objective of this research is to understand what patterns of regulation and emotional expression can meet college students and which variables influence them. The sample comprises 182 subjects, 83.5 % female and 16.5 % male, aged 17 to 51 years (M=23.5 years ; SD 6.6 ), the to Higher Education in the 1st (17.3% ), 2 (37.9 %), 3 (46.2 %) and 4th year (2.2%), students of Psychology (30.8 %), Educational Sciences (19.8 %) and Nursing (49.5 %) . The instruments used are: a Emotional Expressiveness Questionnaire of Berkeley (Gross & John , 1997) that assesses three dimensions: negative expressivity, positive expressivity and impulse, and the Emotional Regulation Questionnaire (Gross & John, 2003) This study show that the dimensions of emotional expressiveness and regulation depend on gender, year, course and age.Keywords: Emotional expressivity, emotional regulation, College students, Higher Education.Resumo.As emoções têm um grande valor adaptativo para os indivíduos, permitindo enfrentar os desafios e aproveitar as oportunidades oferecidas pelo meio (Plutnchik, 1990). Pelo que o seu estudo se releva da maior importância na área da educação. Por expressividade emocional deve entender-se as mudanças de comportamento (por exemplo, facial e postural que acompanham as emoções, como sejam chorar, rir, corar) (Gross & John, 1998). Apesar desta visão multidimensional da expressividade emocional não ser a única (há uma grande proliferação) esta visão e a que agrega maior concordância entre os autores. Por sua vez, a regulação emocional refere-se a todas as estratégias usada para reduzir, manter ou aumentar uma emoção (Gross, 2001). As estratégias de regulação emocional estão implicadas na personalidade, nas emoções na cognição no desenvolvimento social (incluindo a resiliência). O objetivo desta investigação é o de compreender que padrões de regulação e expressão emocional podemos encontrar nos estudantes do Ensino Superior e quais as variáveis que os influenciam. A amostra deste estudo consta de 182 sujeitos, 83,5% do sexo feminino e 16,5% do sexo masculino, com idades compreendidas entre os 17 e os 51 anos (Média 23,5 anos e Desvio Padrão 6,6), a frequentar o Ensino Superior no 1º (17,3%), 2º (37,9%), 3º (46,2%) e 4º ano (2,2%), dos cursos de Psicologia (30,8%), Ciências da Educação (19,8%) e Enfermagem (49,5%). Os instrumentos utilizados foram o questionário de expressividade emocional de Berkeley (Gross & John, 1997) que avalia três dimensões: expressividade negativa, expressividade positiva e a força do impulso; e o questionário de regulação emocional (Gross & John, 2003). Os estudos mostram que as dimensões da expressividade e da regulação emocional dependem do género, ano de curso, curso e idade.Palavras chave: Expressividade emocional, regulação emocional, Estudantes ensino superior, Ensino Superior.
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47

Bukvic, Nenad, Dora Varvara, Cesare Rossi, Maria Felicia-Faienza, Francesco Susca, and Nicoletta Resta. "From clinical suspect to molecular confirmation of noonan syndrome; contribution of “best practice” genetic counseling and new technical possibilities." Genetika 47, no. 3 (2015): 877–84. http://dx.doi.org/10.2298/gensr1503877b.

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Noonan syndrome (NS) is an autosomal dominant disorder, characterized by variable expressivity of clinical features such as: postnatal growth reduction, congenital heart disease, characteristic facial dysmorphisms and development delay. In ~75% of all NS cases, germline mutations involving RAS-MAPK signaling pathway genes (PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF, SHOC2, MEK1, CBL) are causative. We reported a case of 13-year-old girl [born at 36w by CS (BW 3250 g (~95?), BL 48 cm (~75?)] referred for genetic counseling due to growth retardation, facial dysmorphisms, development delay and learning disability. After birth she presented frequent vomiting, with failure to thrive and at 5 months of age underwent surgery for intestinal malrotation. Because of short stature, Growth Hormone (GH) therapy have been introduced at age of 3yrs up to 11yrs. Negative molecular testing for PTPN11 and SOS1 genes, normal female karyotype and aCGH analysis were observed. Objective examination: H 138 cm, (<3?); W 33 kg, (<3?), no menarche, hypertelorism, eyelids ptosis with down slanting palpebral fissures, low-set and posteriorly rotated ears, high-arched palate, micrognathia, short and webbed neck, low hairline at the back of the neck, pectus excavatum, prominent scoliosis, joint hyperextensibility, bilateral pes planus and mitral valve prolapse disclosed by US. Phenotype of our patient was suggestive to NS, thus further mutational screening has been requested. Missense mutation in exon 2 of KRAS gene (c.40G>A; p.Val14Ile) has been identified. Even though KRAS mutations are usually associated with NS severe phenotype with cardiac involvement (hypertrophic cardiomyopathy), this finding is not present in our patient.
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48

Eid, Maha M., Ola M. Eid, Sawsan Abdel-Hadi, Nehal Hassib, Abdelrahman Madian, Hanan H. Afifi, and Ghada M. H. Abdel-Salam. "Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients." Journal of Pediatric Genetics 09, no. 03 (November 21, 2019): 207–10. http://dx.doi.org/10.1055/s-0039-3400489.

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AbstractPallister–Killian syndrome (PKS) is a rare sporadic genetic disorder caused by a mosaic tetrasomy of chromosome 12p, which mainly manifests with craniofacial dysmorphism, intellectual disability (ID), auditory disturbance, epilepsy, and a variety of congenital malformations. The diagnosis of PKS can be complicated due to the phenotypic variation, and an overlap with other syndromes makes the molecular cytogenetic test necessary for a correct diagnosis. We identified two unrelated patients with typical facial features of PKS, including bitemporal alopecia, hypertelorism, and abnormal ears. Furthermore, the two patients had pigmentary skin anomalies, broad and short hands and fingers, and hypotonia. However, they differed in the degree of ID and ophthalmological findings. Patient 1 showed profound ID and poor macular function, whereas patient 2 had moderate ID and normal fundus. Mosaic tetrasomy of chromosome 12p was found in 40 and 25% of the cells of patients 1 and 2, respectively, by fluorescent in situ hybridization of cultured skin fibroblasts. The higher percentage of mosaic cells with tetrasomy 12p found in patient 1 may explain the severe phenotype. This report expands the clinical manifestations of PKS and highlights the variable expressivity of clinical features in relation to the cytogenetics findings.
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49

Baker, Robert S., Edward S. Abou-Jaoude, and Sharon M. Napier. "Kinematic Comparison of Spontaneously Generated Blinks and Voluntary Blinks in Normal Adult Subjects." American Journal of Cosmetic Surgery 22, no. 1 (March 2005): 35–39. http://dx.doi.org/10.1177/074880680502200105.

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Purpose: Spontaneous and voluntary blinks share a common final neuromuscular pathway but have totally different purposes and have come under different evolutionary pressures. The purpose of this study is to compare quantitative blink kinematics (down-phase duration, amplitude, peak velocity, and lid-closure duration) of spontaneously generated blinks with voluntary blinks in normal adults. Methods: Spontaneous and voluntary (tone generated) blinks of the right eye of 7 subjects were studied by a modified scleral search coil technique. Automated analysis of each blink kinematic was performed and statistical analysis of pooled data was undertaken. Results: All kinematics of voluntary blinks were greater than those of spontaneous blinks: duration (77.6 ± 10.0 milliseconds) was 17.6% longer, amplitude (43.1 ± 7.9°) was 40.8% larger, peak velocity (1288.6 ± 358.5°/ms) was 47.3% faster, and mean lid-closure duration (13.4 ± 4.7 milliseconds) was 61.4% longer (P < .001 in all cases). Conclusion: Kinematics of voluntary and spontaneous blinks are significantly different, reflecting their different supranuclear control. This quantitative study confirms previous qualitative observations and clearly separates these categories of eyelid movement as distinct, with spontaneous blinks serving a purely physiologic function and voluntary blinks being a part of facial expressivity.
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Abdolrahimzadeh, Solmaz, Vittorio Scavella, Lorenzo Felli, Filippo Cruciani, Maria Teresa Contestabile, and Santi Maria Recupero. "Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?" BioMed Research International 2015 (2015): 1–11. http://dx.doi.org/10.1155/2015/786519.

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The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis. Other features linked to the port-wine stain and typical to all of the three conditions are glaucoma and choroidal alterations. Glaucoma can be due to malformations of the anterior chamber or high episcleral venous pressure and in phakomatosis pigmentovascularis it can also be associated with angle hyperpigmentation. The choroid can be thickened in all diseases. Furthermore, choroidal melanocytosis in the phakomatosis pigmentovascularis can lead to malignant transformation. Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group.
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