“It’s Akin to Standing Alone on the Platform”:A Qualitative Analysis of Family Caregivers’ Perceived Benefits of Conversations with Professional Dementia Caregivers

Family caregivers often face challenges in navigating care decisions and maintaining involvement after their relatives transition to long-term care facilities. This study explores family caregivers’ perspectives on the benefits of engaging in conversations with professional caregivers in long-term dementia care. Semi-structured interviews were conducted with 17 family caregivers in Denmark. Using thematic and template analysis, five core themes were constructed, highlighting both emotional and practical motivations for communicating with healthcare professionals: (1) feeling disconnected and uninformed about their loved one’s care, (2) managing emotional challenges while seeking reassurance, (3) leveraging professional expertise for guidance, (4) fostering collaboration through openness, and (5) achieving mutual understanding and perspective shifts. The findings underscore the critical role of open and ongoing communication among family and professional caregivers in building trust, addressing family caregivers’ emotional and informational needs, and supporting them in navigating the shared caregiving roles of long-term dementia care. In addition, the findings point to the potential benefits of structured dialogues to promote family involvement and person-centered care in long-term dementia settings

Healthcare Professionals’ Perspectives on Dignity in Dementia:A Qualitative Analysis

In dementia care, the concept of dignity has garnered substantial attention from both researchers and policymakers. However, the concept often remains vague and open to interpretation, potentially leading to misunderstandings and suboptimal care for people with dementia. As healthcare professionals occupy a critical role in upholding dignity, exploring their viewpoints on this complex concept is paramount. In this study, we explore Danish healthcare professionals’ views on the dignity of people with dementia and discuss these perspectives against existing theoretical accounts. We employed thematic analysis of data collected during facilitated discussions with a total of 99 healthcare professionals, including nurses and healthcare workers, during which we posed the question, “What is dignity to you?” and documented their perspectives. Through a systematic process of data coding and interpretation, we identified recurring patterns in their responses. This approach allowed us to uncover the depth and complexity of their viewpoints, providing valuable insights into the multifaceted nature of dignity as perceived by healthcare professionals. Our findings revealed that healthcare professionals possessed a nuanced understanding of dignity, recognizing both a subjective element and a universal aspect applicable to all individuals, aligning with theoretical interpretations. However, conceptual ambiguity remained a challenge.</p

NanoImprint:A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long-read sequencing

INTRODUCTION: Long-read whole genome sequencing like Oxford Nanopore Technology, is increasingly being introduced in clinical settings. With its ability to simultaneously call sequence variation and DNA modifications including 5-methylcytosine, nanopore is a promising technology to improve diagnostics of imprinting disorders.METHODS: Currently, no tools to analyze DNA methylation patterns at known clinically relevant imprinted regions are available. Here we present NanoImprint, which generates an easily interpretable report, based on long-read nanopore sequencing, to use for identifying clinical relevant abnormalities in methylation levels at 14 imprinted regions and diagnosis of common imprinting disorders.RESULTS AND CONCLUSION: NanoImprint outputs a summarizing table and visualization plots displays methylation frequency (%) and chromosomal positions for all regions, with phased data color-coded for the two alleles. We demonstrate the utility of NanoImprint using three imprinting disorder samples from patients with Beckwith-Wiedemann syndrome (BWS), Angelman syndrome (AS) and Prader-Willi syndrome (PWS). NanoImprint script is available from https://github.com/carolinehey/NanoImprint.</p

The Impact of IT on Team Situational Awareness during In-Hospital Cardiac Arrest Interventions: Implications for Team Coordination

Effective team coordination during in-hospital cardiac arrest interventions is central to improving treatment outcomes. However, research highlights many obstacles to effective coordination during resuscitation attempts, including communication breakdowns and lack of information sharing. These factors are also associated with degradation in team situational awareness. Furthermore, resuscitation teams must interact with many IT to provide adequate treatment. While IT use supports the creation of task-oriented knowledge, the extent to which it enables shared knowledge and team situational awareness is not clear. Our study reveals that IT promotes team situational awareness in two ways: by providing shared access to information, and by aligning members’ higher-level situational awareness. However, some team-oriented processes may be hindered by IT featuring high data density and detailed information displays. Our results contribute to IS literature on team coordination by revealing the role of IT in enabling team situational awareness and coordination in dynamic and complex environments

Development and prima facie validation of the Dementia-Specific Ethical Self-Efficacy scale for professional caregivers

AIM: To develop and validate a scale for measuring professional caregivers' ethical self-efficacy in dementia care.BACKGROUND: Professional caregivers of people with dementia make ethical decisions on a day-to-day basis, and it is important that they feel confident when doing so. Moreover, confidence, or self-efficacy, influences caregivers' behaviour and well-being and may be a predictor of competence. However, there is no scale for measuring ethical self-efficacy. This study aims to fill this gap.METHODS: This study concerns the development and prima facie validation of the Dementia-Specific Ethical Self-Efficacy (DemESE) scale. During development, we identified dementia-specific ethical principles and generated items representing ethical conflicts of principles. In the subsequent validation, we administered the scale to experts and professional caregivers in dementia care. We assessed the relevance of the scale using a content validity index and tested validity and reliability using Cronbach's alpha. To further enhance validity, we compared the scale with analogous self-efficacy scales using Pearson's correlation coefficient.RESULTS: The quantitative testing of DemESE revealed that the scale exhibited acceptable levels of internal consistency and reliability. This finding was supported by Cronbach's alpha. In addition, the content validity index and Pearson correlation coefficient provided evidence of the scale's relevance and validity.CONCLUSION: The results suggest that DemESE is a promising tool for assessing professional caregivers' ethical self-efficacy in dementia care and may be used to measure ethical self-efficacy - that is, confidence in ethical decision-making in dementia care.</p

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

BACKGROUND: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations. METHODS: We tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes (HNRNPK, HNRNPU, HNRNPH1, HNRNPH2, and HNRNPR) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs (HNRNPU and SYNCRIP). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk. RESULTS: We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands (n = 188-221) expands the phenotypes associated with HNRNP rare variants, and phenotypes associated with variation in the HNRNP genes distinguishes them as a subgroup of NDDs. CONCLUSIONS: Overall, our novel approach of exploiting gene families in NDDs identifies new HNRNP-related disorders, expands the phenotypes of known HNRNP-related disorders, strongly implicates disruption of the hnRNPs as a whole in NDDs, and supports that NDD subtypes likely have shared molecular pathogenesis. To date, this is the first study to identify novel genetic disorders based on the presence of disorders in related genes. We also perform the first phenotypic analyses focusing on related genes. Finally, we show that radial glial expression of these genes is likely critical during neurodevelopment. This is important for diagnostics, as well as developing strategies to best study these genes for the development of therapeutics.</p

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype-phenotype correlations in individuals with POU3F3-related disorders. We recruited unpublished individuals with POU3F3 variants through international collaborations and obtained updated clinical data on previously published individuals. Trio exome sequencing or single exome sequencing followed by segregation analysis were performed in the novel cohort. Functional effects of missense variants were investigated with 3D protein modeling. We included 28 individuals (5 previously published) from 26 families carrying POU3F3 variants; 23 de novo and one inherited from an affected parent. Median age at study inclusion was 7.4 years. All had developmental delay mainly affecting speech, behavioral difficulties, psychiatric comorbidities and dysmorphisms. Additional features included gastrointestinal comorbidities, hearing loss, ophthalmological anomalies, epilepsy, sleep disturbances and joint hypermobility. Autism, hearing and eye comorbidities, dysmorphisms were more common in individuals with truncating variants, whereas epilepsy was only associated with missense variants. In silico structural modeling predicted that all (likely) pathogenic variants destabilize the DNA-binding region of POU3F3. Our study refined the phenotypic and genetic landscape of POU3F3-related disorders, it reports the functional properties of the identified pathogenic variants, and delineates some genotype-phenotype correlations