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Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.
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Síndrome de Cornélia de Lange , Sequenciamento de Nucleotídeos em Larga Escala , Mutação , Consenso , Síndrome de Cornélia de Lange/diagnóstico , Síndrome de Cornélia de Lange/genética , Síndrome de Cornélia de Lange/fisiopatologia , Síndrome de Cornélia de Lange/terapia , Estudos de Associação Genética , HumanosRESUMO
Both rape myth acceptance (RMA) and rape proclivity are associated with acts of sexual aggression. Although this relationship is assumed to be unidirectional with RMA contributing to rape proclivity, no studies have examined the possibility of a predictive relationship, with proclivity to perpetrate also impacting RMA. This is important to consider in a longitudinal context, as both constructs may increase risk of sexual assault perpetration and support each other over time, further escalating the risk of a sexual assault. Using longitudinal data with a sample of 488 college men, this study employed cross-lagged panel analysis to investigate these relationships across four time points according to two models: autoregressive effects of RMA and rape proclivity, meaning each construct predicts itself over time, and RMA and rape proclivity predicting each other over time. The results of this study indicate that causality exists for RMA and rape proclivity. These findings have implications for prevention efforts directed towards modifying attitudes associated with sexual assault perpetration-particularly for men who are at high-risk of perpetrating sexual assault, including those with high rates of RMA and rape proclivity.
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Cornelia de Lange Syndrome (CdLS), due to mutations in genes of the cohesin protein complex, is described as a disorder of transcriptional regulation. Phenotypes in this expanding field include short stature, microcephaly, intellectual disability, variable facial features and organ involvement, resulting in overlapping presentations, including established syndromes and newly described conditions. Individuals with all forms of CdLS have multifaceted complications, including neurodevelopmental, feeding, craniofacial, and communication. Coping mechanisms and management of challenging behaviors in CdLS, disruption of normal behaviors, and how behavior molds the life of the individual within the family is now better understood. Some psychotropic medications are known to be effective for behavior. Other medications, for example, Indomethacin, are being investigated for effects on gene expression, fetal brain tissue, brain morphology and function in Drosophila, mice, and human fibroblasts containing CdLS-related mutations. Developmental studies have clarified the origin of cardiac defects and role of placenta in CdLS. Chromosome architecture and cohesin complex structure are elucidated, leading to a better understanding of regulatory aspects and controls. As examples, when mutations are present, the formation of loop domains by cohesin, facilitating enhancer-promotor interactions, can be eliminated, and embryologically, the nuclear structure of zygotes is disrupted. Several important genes are now known to interact with cohesin, including Brca2. The following abstracts are from the 8th Cornelia de Lange Syndrome Scientific and Educational Symposium, held in June 2018, Minneapolis, MN, before the CdLS Foundation National Meeting, AMA CME credits provided by GBMC, Baltimore, MD. All studies have been approved by an ethics committee.
Assuntos
Proteínas de Ciclo Celular/genética , Proteínas Cromossômicas não Histona/genética , Síndrome de Cornélia de Lange/diagnóstico , Síndrome de Cornélia de Lange/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Estudos de Associação Genética/métodos , Humanos , CoesinasRESUMO
Cornelia de Lange Syndrome (CdLS), due to mutations in genes of the cohesin protein complex, is described as a disorder of transcriptional regulation. Phenotypes in this expanding field include short stature, microcephaly, intellectual disability, variable facial features and organ involvement, resulting in overlapping presentations, including established syndromes and newly described conditions. Individuals with all forms of CdLS have multifaceted complications, including neurodevelopmental, feeding, craniofacial, and communication. Coping mechanisms and management of challenging behaviors in CdLS, disruption of normal behaviors, and how behavior molds the life of the individual within the family is now better understood. Some psychotropic medications are known to be effective for behavior. Other medications, for example, Indomethacin, are being investigated for effects on gene expression, fetal brain tissue, brain morphology and function in Drosophila, mice, and human fibroblasts containing CdLS-related mutations. Developmental studies have clarified the origin of cardiac defects and role of placenta in CdLS. Chromosome architecture and cohesin complex structure are elucidated, leading to a better understanding of regulatory aspects and controls. As examples, when mutations are present, the formation of loop domains by cohesin, facilitating enhancer-promotor interactions, can be eliminated, and embryologically, the nuclear structure of zygotes is disrupted. Several important genes are now known to interact with cohesin, including Brca2. The following abstracts are from the 8th Cornelia de Lange Syndrome Scientific and Educational Symposium, held in June 2018, Minneapolis, MN, before the CdLS Foundation National Meeting, AMA CME credits provided by GBMC, Baltimore, MD. All studies have been approved by an ethics committee.
RESUMO
Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to anatomic abnormalities on neuro-imaging studies has not, however, been established. Anatomic abnormalities in the brain and central nervous system specific to CdLS have been observed, including changes in the white matter, brainstem, and cerebellum. We hypothesize that location and severity of brain abnormalities correlate with clinical phenotype in CdLS, as seen in other developmental disorders. In this study, we retrospectively evaluated brain MRI studies of 15 individuals with CdLS and compared these findings to behavior at the time of the scan. Behavior was assessed using the Aberrant Behavior Checklist (ABC), a validated behavioral assessment tool with several clinical features. Ten of fifteen (67%) of CdLS patients had abnormal findings on brain MRI, including cerebral atrophy, white matter changes, cerebellar hypoplasia, and enlarged ventricles. Other findings included pituitary tumors or cysts, Chiari I malformation and gliosis. Abnormal behavioral scores in more than one behavioral area were seen in all but one patient. All 5 of the 15 (33%) patients with normal structural MRI studies had abnormal ABC scores. All normal ABC scores were noted in only one patient and this was correlated with moderately abnormal MRI changes. Although our cohort is small, our results suggest that abnormal behaviors can exist in individuals with CdLS in the setting of relatively normal structural brain findings. © 2016 Wiley Periodicals, Inc.
Assuntos
Encéfalo/patologia , Síndrome de Cornélia de Lange/patologia , Imageamento por Ressonância Magnética , Transtornos Mentais/diagnóstico , Adolescente , Adulto , Análise do Comportamento Aplicada , Criança , Pré-Escolar , Síndrome de Cornélia de Lange/complicações , Feminino , Humanos , Masculino , Estudos Retrospectivos , Adulto JovemRESUMO
Cornelia de Lange Syndrome (CdLS) is the most common example of disorders of the cohesin complex, or cohesinopathies. There are a myriad of clinical issues facing individuals with CdLS, particularly in the neurodevelopmental system, which also have implications for the parents and caretakers, involved professionals, therapists, and schools. Basic research in developmental and cell biology on cohesin is showing significant progress, with improved understanding of the mechanisms and the possibility of potential therapeutics. The following abstracts are presentations from the 6th Cornelia de Lange Syndrome Scientific and Educational Symposium, which took place on June 25-26, 2014, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting in Costa Mesa, CA. The Research Committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board. In addition to the scientific and clinical discussions, there were educationally focused talks related to practical aspects of behavior and development. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.
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Proteínas de Ciclo Celular/genética , Proteínas Cromossômicas não Histona/genética , Síndrome de Cornélia de Lange/genética , Regulação da Expressão Gênica no Desenvolvimento , Mutação , Adulto , Animais , California , Proteínas de Ciclo Celular/metabolismo , Criança , Proteínas Cromossômicas não Histona/metabolismo , Síndrome de Cornélia de Lange/metabolismo , Síndrome de Cornélia de Lange/patologia , Modelos Animais de Doenças , Drosophila melanogaster/genética , Drosophila melanogaster/metabolismo , Humanos , Camundongos , Fenótipo , Transdução de Sinais , Peixe-Zebra/genética , Peixe-Zebra/metabolismo , CoesinasRESUMO
Cornelia de Lange syndrome (CdLS) is the prototype for the cohesinopathy disorders that have mutations in genes associated with the cohesin subunit in all cells. Roberts syndrome is the next most common cohesinopathy. In addition to the developmental implications of cohesin biology, there is much translational and basic research, with progress towards potential treatment for these conditions. Clinically, there are many issues in CdLS faced by the individual, parents and caretakers, professionals, and schools. The following abstracts are presentations from the 5th Cornelia de Lange Syndrome Scientific and Educational Symposium on June 20-21, 2012, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting, Lincolnshire, IL. The research committee of the CdLS Foundation organizes the meeting, reviews and accepts abstracts and subsequently disseminates the information to the families. In addition to the basic science and clinical discussions, there were educationally-focused talks related to practical aspects of management at home and in school. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.
Assuntos
Proteínas de Ciclo Celular/genética , Proteínas Cromossômicas não Histona/genética , Anormalidades Craniofaciais/genética , Síndrome de Cornélia de Lange/genética , Ectromelia/genética , Hipertelorismo/genética , Proteínas/genética , Acetiltransferases/genética , Senilidade Prematura/genética , Animais , Cromatina/genética , Transtornos Cognitivos/genética , Drosophila , Comportamento Alimentar , Haploinsuficiência , Cardiopatias Congênitas/embriologia , Cardiopatias Congênitas/genética , Humanos , Camundongos , Modelos Animais , Proteínas do Grupo Polycomb/genética , Biossíntese de Proteínas/genética , Homeostase do Telômero , Peixe-Zebra , CoesinasRESUMO
To prevent sexual violence (SV), it is important to understand both risk and protective factors for SV perpetration. Although considerable research has examined risk factors for perpetration of SV among high school and college students, less research is dedicated to investigating protective factors which might mitigate the risk of perpetration. This review summarizes existing research on protective factors for perpetration of SV among high school and college students. Thirteen articles were included in this study after reviewing 5,464 citations. Inclusion criteria included peer-reviewed scholarly journals, written in English, and published between 2010 and 2021. The included articles indicate that 11 factors were significantly related to less SV perpetration. Key protective factors identified in this study include empathy, impulse control, social support, parental factors, peers, church attendance/ religiosity, and school connections. In addition to protective factors, this review also examined study characteristics for the included articles and found that most participants were White and just over half of the studies were longitudinal. Overall, these findings indicate a lack of research focused on protective factors for SV perpetration, and a need for more research on the identified protective factors and to investigate additional protective factors. Such studies should include longitudinal designs and more diverse samples to understand the range of protective factors that can be bolstered through interventions to prevent SV among high school and college students.
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Delitos Sexuais , Humanos , Fatores de Proteção , Delitos Sexuais/prevenção & controle , Instituições Acadêmicas , Fatores de Risco , EstudantesRESUMO
Endorsing problematic sexual violence-related attitudes including rape myth acceptance (RMA), hostile sexism, and disapproval of sexual consent is associated with negative outcomes, including the perpetration of sexual violence. This study examined social connections as a protective factor for sexual violence-related attitudes among a sample of 770 participants. Results indicate that in the full sample, connections to a workplace were protective for RMA and hostile sexism while family connections were protective for disapproval of sexual consent, RMA, and hostile sexism. Patterns of other social connections differed in separate models for men and women. Unexpected findings indicating that connections to a religious social group are a risk, not a protective, factor are discussed.
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BACKGROUND: Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the syndrome. To date, literature on genotype-phenotype associations in individuals with CdLS is extremely limited, although studies suggest some differences in clinical phenotype severity across variants. This study aimed to examine and compare neurobehavioral differences and developmental variability across CdLS genes, specifically NIPBL and SMC1A, and identify genotype-phenotype correlations. PARTICIPANTS AND METHODS: This patient-reported outcomes study included accessing data from the Coordination of Rare Diseases registry at Sanford. Parents of a total of 26 children/adults with CdLS and a known variant in NIPBL (Mean age = 20.46 years, SD = 11.21) and 12 with a known variant in SMC1A (Mean age = 11.08 years, SD = 9.04) completed a series of questionnaires regarding their child's developmental history. This included attainment of common language and motor milestones, intervention history, and behavior functioning. Developmental history and reported behavior regulation difficulties were compared across variant groups. RESULTS: Overall, individuals with a pathogenic variant in NIPBL or SMC1A were similarly delayed across motor and language milestones with about 70% not using phrase speech and 30-50% not walking by 5 years of age. However, those with NIPBL variants showed more severity in behavioral phenotype, namely with more repetitive behaviors, tantrums, and withdrawn behaviors. In addition, these individuals were more likely than those with SMC1A variants to demonstrate self-injurious behaviors, and anxiety. Both groups yielded a similar proportion of participants who participated in speech and occupational therapy, however those with SMC1A variants were more likely to engage in physical therapy. Both clinical groups report low rate of communicative or assistive device use despite a large proportion of participants never mastering single word or sentence use. CONCLUSIONS: Study results are consistent with recent investigations highlighting more severe behavioral phenotype, particularly autistic features, anxiety, and behavior regulation challenges, among those with NIPBL variants albeit comparable developmental milestones. Both groups endorsed very elevated attention problems. Findings highlight importance of early interventions, including behavioral health services.
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Proteínas de Ciclo Celular , Síndrome de Cornélia de Lange , Criança , Adulto , Humanos , Adulto Jovem , Proteínas de Ciclo Celular/genética , Síndrome de Cornélia de Lange/genética , Proteínas Cromossômicas não Histona/genética , Fenótipo , Estudos de Associação GenéticaRESUMO
The two constructs of rape myth acceptance (RMA) and rape proclivity are associated with sexual violence (SV) perpetration. Further understanding these constructs can help improve prevention efforts aimed at reducing SV perpetration. Latent profile analysis was conducted to examine typologies of RMA among 474 incoming college men and found that male college students can be categorized into four profiles. Some groups endorsed lower or mid-levels of rape myths (RMs) and others endorsed higher levels of some or all RMs, indicating the heterogeneity of RM beliefs. And within each subgroup of college men's RMA, intention to join an all-male sports team and/or a fraternity (two risk factors) and bystander attitudes (a protective factor) were examined as covariates in the model. Bystander attitudes appear to act as a protective factor as they are higher among profiles of men with lower RMA. Furthermore, this study examined the four subgroups (latent profiles) of college men based on their RMA to examine whether membership within each subgroup/profile is differentially associated with rape proclivity. The findings indicate that subgroups of men with high levels of RMA have higher mean rape proclivity scores compared to the subgroup of men with the lowest level of RMA. Implications for prevention programming tailored for high-risk groups of men, based on their RMA beliefs, as well as possible future research within this area are discussed.
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Estupro , Delitos Sexuais , Humanos , Masculino , Estupro/prevenção & controle , Homens , Atitude , EstudantesRESUMO
The purpose of this study was to examine and compare sexual violence (SV) victimization among sorority women and unaffiliated counterparts. Results showed sorority women were more likely than unaffiliated women to report experiencing some types of SV, consuming alcohol prior to victimization, and to identify their perpetrator as a hookup/casual partner. More women, regardless of affiliation, informally disclosed their victimization compared to formally reporting; many did not tell anyone because they did not think it was serious enough. The findings point to implications for harm reduction, bystander intervention, and primary prevention programming, as well as institutional policy to address SV.
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Vítimas de Crime , Delitos Sexuais , Humanos , Feminino , RevelaçãoRESUMO
Peers' attitudes toward survivors of sexual violence can impact their willingness to disclose. Students with minoritized identities may perceive and experience their campus environments as less supportive than peers with privileged identities. The purpose of this study was to examine perceptions of anticipated peer support for sexual violence survivors, using a cross-sectional study of 2,727 students. Linear regression modeling showed significant associations between students with minoritized identities and lower scores on perceptions of anticipated peer support for survivors. There were also several important interactions between specific overlapping student identities. The findings suggest that students with minoritized identities perceive anticipated peer support less favorably than those with privileged identities.
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Delitos Sexuais , Humanos , Estudos Transversais , Grupo Associado , EstudantesRESUMO
Parents of three children with neurodevelopmental disorders and pica were taught to use a safety checklist to create pica-safe areas when transitioning to new locations. During baseline, no parent displayed pica-safe behavior, and their children attempted pica at moderate to high rates. After use of the checklist, parent pica-safe behavior increased, and instances of pica diminished to near zero. Results transferred to new contexts and additional substances associated with pica. Using the safety checklist appears to have aided parents in creating pica-safe environments to minimize pica. Supplementary Information: The online version contains supplementary material available at 10.1007/s40617-023-00798-w.
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Although research on sexual violence experiences of minoritized college students has increased in recent years, little is known about the experiences of Latinx students. Even less knowledge is available on whether such violence and disclosure experiences vary by gender identity. The present study addressed this gap by exploring the rates of sexual violence and disclosure patterns after experiences of sexual violence among Latinx college students. Using data from the 2019-2020 Healthy Minds Study, a national sample of Latinx college students was analyzed (n = 6,690). Descriptive statistics, χ2 tests, and one-way analyses of variance were conducted to explore differences in gender identity, sexual violence victimization, and disclosure type. Multiple logistic regression analyses were used to estimate the association between (1) gender identity and sexual violence victimization and (2) gender identity and sexual violence disclosure while controlling for various sociodemographic measures. Results indicated sexual violence victimization occurred at significantly higher rates among transgender/gender nonconforming and cisgender women Latinx students, compared to cisgender men. Transgender/gender nonconforming students who experienced sexual violence were significantly less likely to make any disclosure of sexual violence when compared to cisgender men. These findings highlight the extent to which experiences of sexual violence among Latinx students differ based on their gender identity. It also brings attention to the need for campus programming to attend to students who often face structural barriers because of their intersecting identities, specifically transgender/gender nonconforming Latinx students.
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Vítimas de Crime , Minorias Sexuais e de Gênero , Pessoas Transgênero , Humanos , Feminino , Masculino , Identidade de Gênero , Revelação , Violência , Estudantes , Hispânico ou LatinoRESUMO
ObjectiveTo investigate the association between psychological flexibility and physical violence perpetration among a large sample of college students. Participants: We analyzed data from the 2018-2019 national Healthy Minds Study, which included 21,850 undergraduate and graduate student participants at 78 U.S. campuses. Methods: We used multivariable logistic regression analysis to estimate the association between psychological flexibility, measured by the Acceptance and Action Questionnaire-II (AAQ), and a 12-month history of self-reported physical violence perpetration. Results: Mean scores on the AAQ were higher (p < 0.001) among participants who reported physical violence perpetration (25.6, SD 10.7) compared to those who did not (21.7, SD 9.9). Logistic regression results revealed that psychological inflexibility was associated with slightly higher odds of physical violence perpetration (AOR 1.03, 95% CI 1.02-1.04) while controlling for potential confounders. Conclusions: Campus violence prevention efforts should include programming aimed at increasing psychological flexibility as a means to reduce potential violence.
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The Neurobehavioral Programs at Kennedy Krieger Institute constitute a comprehensive continuum of care designed to serve individuals with intellectual and developmental disabilities with co-occurring problem behavior. This continuum includes inpatient, intensive outpatient, outpatient, consultation, and follow-up services. The mission of these programs is to fully integrate patient care, research, training, and advocacy to achieve the best possible outcomes with patients, and to benefit the broader community of individuals with severe behavioral dysfunction. The primary treatment approach utilized across all programs is applied behavior analysis, however the inpatient unit also provides fully integrated interdisciplinary care. Factors driving the development and expansion of these programs are described, as are the processes and systems by which the mission objectives are achieved.
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BACKGROUND: The relationship between lifetime abuse (i.e., childhood abuse, intimate partner violence) and risky behaviors is well established. One proposed mechanism is poor emotion regulation and executive functioning, as a potential mechanism that may explain the relationship between lifetime abuse and risky behaviors. However, research on executive functioning and emotion regulation as mediators of this relationship has been limited. In the present study, we examined this association. We hypothesized that lifetime abuse would be significantly associated with executive function and emotion regulation which in turn would be associated with greater alcohol use and risky sex. METHODS: This cross-sectional study included 150 women with a history of lifetime abuse who were assessed for hazardous alcohol use using the AUDIT Score; emotion regulation was measured using the Difficulties with Emotion Regulation Scale (DERS); risky sex was measured using the question: "in the last 90 days, how many people did you have anal or vaginal sex without using a condom? Executive function was assessed using the NIH Toolbox. RESULTS: The mediation model followed the self-regulation theory, which proposes executive function as the higher-order cognitive process. Results showed that executive function deficit and poor emotion regulation significantly mediated the relationship between lifetime abuse and hazardous alcohol use (indirect effect = .097, SE .031, 95% CI = .035 to .158). CONCLUSION: Our findings suggest a higher-order cognitive process with executive function promoting emotion regulation as a potential mechanism for alcohol problems in women of color who experienced lifetime abuse.
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Regulação Emocional , Humanos , Feminino , Criança , Estudos Transversais , Análise de Mediação , Pigmentação da Pele , CogniçãoRESUMO
The aims of this study were to, first, report the prevalence of physical violence perpetration among a sample of college students and, second, to identify associations between physical violence perpetration, substance use, and mental health symptoms. We analyzed survey data from the Healthy Minds Study. We examined the 12-month prevalence of physical violence perpetration by gender identity from 2014-2019 (n = 181,056). We used multivariable logistic regression analyses to estimate associations between physical violence perpetration, substance use, and mental health symptoms from the 2018-2019 survey year (n = 43,563). Results revealed that 12-month prevalence rates of physical violence perpetration increased from 2014-2019 among male, female, and transgender/gender nonconforming college students. Results from multivariable logistic regression analyses using the 2018-2019 survey year revealed higher odds of physical violence perpetration in the previous 12 months among students who reported substance use and mental health symptoms, including vaping or e-cigarette use, illicit drug use, and nonsuicidal self-injury, among others. Our findings highlight steadily rising prevalence of physical violence perpetration from 2014-2019 among college students, indicating a growing need for more research and prevention efforts to address this problem in higher education settings. Efforts to prevent violence on college campuses should consider how to reduce substance use and improve mental health to reduce this form of violence.
Assuntos
Sistemas Eletrônicos de Liberação de Nicotina , Transtornos Relacionados ao Uso de Substâncias , Feminino , Identidade de Gênero , Humanos , Masculino , Saúde Mental , Abuso Físico , Prevalência , Estudantes , Transtornos Relacionados ao Uso de Substâncias/epidemiologiaRESUMO
Dating violence is a problem occurring on college campuses that requires unique prevention and intervention needs. Despite the widespread prevalence and pervasive impact of dating violence victimization, formal disclosure and utilization of on-campus support services for student survivors remain low and often survivors who do tell someone disclose to an informal source of support, most often a friend. Many current educational efforts on college campuses regarding dating violence, including bystander intervention programming, fail to increase students' understanding of how to safely address a situation where a peer is experiencing an abusive relationship or to provide students with information about their role as potential responders to disclosures of violence from friends. In the present exploratory study, a series of qualitative focus groups were conducted to better understand students' perspectives on dating violence on campus. Data were analyzed according to processes of thematic analysis to examine how students' understanding and knowledge of dating violence impact their decision about whether to intervene as prosocial bystanders within their social networks using focus groups. Emergent findings reveal that students undergo a multistage process of intervening that relies heavily on their existing knowledge and attitudes toward dating violence. The findings from this article are consistent with Banyard's Action Coils model. Suggestions for future research are also discussed.