Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability. BIS is caused by pathogenic variants in SMARCA2, that encodes the catalytic subunit of the superfamily II helicase group of the BRG1 and BRM-associated factors (BAF) forming the BAF complex, a chromatin remodeling complex involved in transcriptional regulation. Individuals bearing variants within the bipartite nuclear localization (BNL) signal domain of ADNP present with the neurodevelopmental disorder known as Helsmoortel-Van Der Aa Syndrome (HVDAS). Distinct DNA methylation profiles referred to as episignatures have been reported in HVDAS and BAF complex disorders. Due to molecular interactions between ADNP and BAF complex, and an overlapping craniofacial phenotype with narrowing of the palpebral fissures in a subset of patients with HVDAS and BIS, we hypothesized the possibility of a common phenotype-specific episignature. A distinct episignature was shared by 15 individuals with BIS-causing SMARCA2 pathogenic variants and 12 individuals with class II HVDAS caused by truncating pathogenic ADNP variants. This represents first evidence of a sensitive phenotype-specific episignature biomarker shared across distinct genetic conditions that also exhibit unique gene-specific episignatures.

Which types of social support matter for Black sexual minority men coping with internalized homophobia? Findings from a mediation analysis.

Background: Minority stress theory views social support as a protective factor against the effects of minority-specific stressors like internalized homophobia (IH) on mental health in sexual minority populations. However, much of the empirical validation of this theory has been conducted within predominantly White samples, resulting in a limited understanding of how the theory applies to Black sexual minority individuals. Current examinations of social support fail to capture the nuances of how Black sexual minority men may access support systems differently, resulting in a need to investigate how social support, IH, and mental health operate for Black sexual minority men. This study examined relationships between IH, depression, and different types of social support (i.e., family, friends, Black community, gay community) using a mediation model. Methods: We used data from the POWER (Promoting Our Worth Equity and Resilience) Study, which recruited Black sexual minority men at Black Pride events across six cities in the United States from 2014 to 2017, to test four mediation pathways concurrently in Stata 17. Participants (N = 4,430) completed a questionnaire assessing a variety of health and life domains, including depression symptoms, internalized homophobia, and social support. Results: IH was positively associated with depression. Lower levels of family, friend, and Black community support were all positively associated with depression symptoms. Additionally, IH was positively associated with all types of support. Finally, family, friend, and Black community support partially mediated the relationship between IH and depression. Conclusions and implications: Results suggest that the relationship between social support and depression is complex for Black sexual minority men. Findings suggest family support is an important factor for clinical intervention efforts targeting depression, and that gay community support systems should assess how their environments can better support Black sexual minority men. Overall, findings demonstrate the necessity of future examination of how social support functions differently within Black sexual minority communities.

A Systematic Review of Conceptualizations and Operationalizations of Youth Polyvictimization.

Violence against youth is a global issue impacting millions each year. Increasingly, research has focused on studying those impacted by multiple forms of violence, or polyvictims. Evidence strongly suggests that polyvictimized youth tend to have worse physical and mental health outcomes than those who have experienced single forms of violence. Moreover, minoritized youth (i.e., racial and/or sexual minority youth, youth with disabilities) are more likely to experience polyvictimization, making this a social justice and equity concern. To date, there is no universal consensus on what exactly constitutes polyvictimization. This systematic review aims to examine the ways in which polyvictimization is being studied to inform both research and practice. As such, relevant databases were searched to amass the extant literature related to youth polyvictimization internationally. Empirical studies published since 2006 that focused on youth (under age 18) polyvictimization were included. After the review process, 264 studies met eligibility criteria, however 55 studies employed person-centered/finite mixture analyses and were removed for a separate review, resulting in 209 featured in the current systematic review. Results demonstrate that researchers are defining and operationalizing polyvictimization in different ways: (a) using individual victimization event counts; (b) employing domain-based counts; and (c) taking a "highest-victimized" percentage of their sample. The most used measurement tool was the Juvenile Victimization Questionnaire, though other validated tools and researcher-constructed questions were frequently utilized. Research on polyvictimization is burgeoning worldwide; however, this research is being conducted in disparate ways, making it difficult to compare findings and further advance the field.

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.

Introduction: In October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England, requiring the coordination of care from specialist genetics, fetal medicine (FM) and laboratory services. This mixed methods study explored the experiences of professionals involved in delivering the pES service during the first 2 years of its delivery in the NHS. Methods: A survey (n = 159) and semi-structured interviews (n = 63) with healthcare professionals, including clinical geneticists, FM specialists, and clinical scientists (interviews only) were used to address: 1) Views on the pES service; 2) Capacity and resources involved in offering pES; 3) Awareness, knowledge, and educational needs; and 4) Ambitions and goals for the future. Results: Overall, professionals were positive about the pES service with 77% rating it as Good or Excellent. A number of benefits were reported, including the increased opportunity for receiving actionable results for parental decision-making, improving equity of access to genomic tests and fostering close relationships between FM and genetics departments. Nonetheless, there was evidence that the shift to offering pES in a clinical setting had brought some challenges, such as additional clinic time, administrative processes, perceived lack of autonomy in decision-making regarding pES eligibility and difficulty engaging with peripheral maternity units. Concerns were also raised about the lack of confidence and gaps in genomics knowledge amongst non-genetics professionals - especially midwives. However, the findings also highlighted value in both FM, obstetric and genetics professionals benefiting from further training with a focus on recognising and managing prenatally diagnosed genetic conditions. Conclusion: Healthcare professionals are enthusiastic about the benefits of pES, and through multi-collaborative working, have developed relationships that have contributed to effective communication across specialisms. Although limitations on resources and variation in knowledge about pES have impacted service delivery, professionals were hopeful that improvements to infrastructure and the upskilling of all professionals involved in the pathway would optimise the benefits of pES for both parents and professionals.

Suicide Postvention in Schools: What Evidence Supports Our Current National Recommendations?

Suicide is a leading cause of death for school-aged preteens and adolescents and a growing risk for younger children. Schools are the ubiquitous institutional context serving this age group. These trends suggest a need for knowledge and guidance related to school postvention efforts, yet the available research is limited. Focusing on postvention, or the period after a peer suicide occurs, is critical to youth suicide prevention because this is a time of elevated suicide risk for youth. Targeted postvention interventions in schools can mitigate youth suicide risk and limit contagion within a school's student body. This article explores the scientific literature related to school-based suicide postvention, describing the strength and limits of research supporting common recommendations for suicide postvention in schools. It identifies widespread recommendations for school postvention that have only preliminary supportive evidence and notes several areas in need of additional research. With clearer postvention best practices to guide their suicide crisis preparedness plans and postvention procedures, schools can better support students, families, and the community as a whole in order to prevent further tragedies.