Consequences of a Diagnostic Label: A Systematic Scoping Review and Thematic Framework

Objectives: To develop a thematic framework for the range of consequences arising from a diagnostic label from an individual, family/caregiver, healthcare professional, and community perspective.Design: Systematic scoping review of qualitative studies.Search Strategy: We searched PubMed, Embase, PsycINFO, Cochrane, and CINAHL for primary studies and syntheses of primary studies that explore the consequences of labelling non-cancer diagnoses. Reference lists of included studies were screened, and forward citation searches undertaken.Study Selection: We included peer reviewed publications describing the perceived consequences for individuals labelled with a non-cancer diagnostic label from four perspectives: that of the individual, their family/caregiver, healthcare professional and/or community members. We excluded studies using hypothetical scenarios.Data Extraction and Synthesis: Data extraction used a three-staged process: one third was used to develop a preliminary framework, the next third for framework validation, and the final third coded if thematic saturation was not achieved. Author themes and supporting quotes were extracted, and analysed from the perspective of individual, family/caregiver, healthcare professional, or community member.Results: After deduplication, searches identified 7,379 unique articles. Following screening, 146 articles, consisting of 128 primary studies and 18 reviews, were included. The developed framework consisted of five overarching themes relevant to the four perspectives: psychosocial impact (e.g., positive/negative psychological impact, social- and self-identity, stigma), support (e.g., increased, decreased, relationship changes, professional interactions), future planning (e.g., action and uncertainty), behaviour (e.g., beneficial or detrimental modifications), and treatment expectations (e.g., positive/negative experiences). Perspectives of individuals were most frequently reported.Conclusions: This review developed and validated a framework of five domains of consequences following diagnostic labelling. Further research is required to test the external validity and acceptability of the framework for individuals and their family/caregiver, healthcare professionals, and community.

When Nurses Become Patients. Validation of the Content of the Diagnostic Label Professional Traumatic Grief

(1) Background: The Covid-19 pandemic has put our healthcare systems to the test, exposing their vulnerability and demanding a high degree of commitment and dedication from healthcare teams to confront and contain the disease. In this sense, nursing professionals have played a prominent role in the treatment of complex cases that have required hospitalisation and have manifested pre-existing health complications or mortality. This unprecedented situation made it difficult to regulate the emotional impact and manage grief, often turning it into a traumatic grief whose psychological and emotional manifestations are increasingly evident but very little researched in the current context. (2) Purpose: Validation of the definition, defining characteristics and related factors for the proposal of the nursing diagnosis of professional traumatic grief. (3) Method: Based on Fehring’s content validation model, the label name, defining characteristics and other related factors were agreed upon by Spanish experts. (4) Results: The content validity index was 0.9068. A total of 21 defining characteristics were validated by the experts, as all of them scored above 0.6. With respect to the related factors of the proposed 10, all were validated. (5) Conclusion: The present study supports the proposal to develop a nursing diagnosis for professional traumatic grief. The use of standardised language is only the first step in establishing professional traumatic grief as a diagnostic category.

Clustering of Multiple Psychiatric Disorders Using Functional Connectivity in the Data-Driven Brain Subnetwork

Recently, the dimensional approach has attracted much attention, bringing a paradigm shift to a continuum of understanding of different psychiatric disorders. In line with this new paradigm, we examined whether there was common functional connectivity related to various psychiatric disorders in an unsupervised manner without explicitly using diagnostic label information. To this end, we uniquely applied a newly developed network-based multiple clustering method to resting-state functional connectivity data, which allowed us to identify pairs of relevant brain subnetworks and subject cluster solutions accordingly. Thus, we identified four subject clusters, which were characterized as major depressive disorder (MDD), young healthy control (young HC), schizophrenia (SCZ)/bipolar disorder (BD), and autism spectrum disorder (ASD), respectively, with the relevant brain subnetwork represented by the cerebellum-thalamus-pallidum-temporal circuit. The clustering results were validated using independent datasets. This study is the first cross-disorder analysis in the framework of unsupervised learning of functional connectivity based on a data-driven brain subnetwork.

Brain mapping across 16 autism mouse models reveals a spectrum of functional connectivity subtypes

Autism Spectrum Disorder (ASD) is characterized by substantial, yet highly heterogeneous abnormalities in functional brain connectivity. However, the origin and significance of this phenomenon remain unclear. To unravel ASD connectopathy and relate it to underlying etiological heterogeneity, we carried out a bi-center cross-etiological investigation of fMRI-based connectivity in the mouse, in which specific ASD-relevant mutations can be isolated and modeled minimizing environmental contributions. By performing brain-wide connectivity mapping across 16 mouse mutants, we show that different ASD-associated etiologies cause a broad spectrum of connectional abnormalities in which diverse, often diverging, connectivity signatures are recognizable. Despite this heterogeneity, the identified connectivity alterations could be classified into four subtypes characterized by discrete signatures of network dysfunction. Our findings show that etiological variability is a key determinant of connectivity heterogeneity in ASD, hence reconciling conflicting findings in clinical populations. The identification of etiologically-relevant connectivity subtypes could improve diagnostic label accuracy in the non-syndromic ASD population and paves the way for personalized treatment approaches.

Neuropsychological Equivalence of the Clinical Diagnosis of Mild Cognitive Impairment in the National Alzheimer’s Coordinating Center Uniform Data Set and Alzheimer’s Disease Neuroimaging Initiative

<b><i>Introduction:</i></b> Our understanding of Alzheimer’s disease may be improved by harmonizing data from large cohort studies of older adults. Differences in the way clinical conditions, like mild cognitive impairment (MCI), are diagnosed may lead to variability among participants that share the same diagnostic label. This variability presents a challenge for cohort harmonization and may lead to inconsistency in research findings. Little research to date has explored the equivalence of the diagnostic label of MCI across 2 of the largest and most influential cohort studies in the USA: the National Alzheimer’s Coordinating Center (NACC) and the Alzheimer’s Disease Neuroimaging Initiative (ADNI). <b><i>Methods:</i></b> Participants with MCI due to presumed Alzheimer’s disease from the NACC Uniform Data Set (<i>n</i> = 789) and ADNI (<i>n</i> = 131) were compared on demographic, psychological, and functional variables, as well as on an abbreviated neuropsychological battery common to the 2 data sets. <b><i>Results:</i></b> Though similar in terms of age, education, and functional status, the NACC sample was more diverse (17.4% non-White participants vs. 7.6% in ADNI; χ² = 7.923, <i>p</i> = 0.005) and tended to perform worse on some cognitive tests. In particular, participants diagnosed with MCI in NACC were more likely to have clinically significant impairments on language measures (26.36–31.18%) than MCI participants in ADNI (16.03–19.85%). <b><i>Discussion:</i></b> The current findings suggest important differences in cognitive performances between 2 large MCI cohorts, likely reflective of differences in diagnostic criteria used in these 2 studies, as well as differences in sample compositions. Such diagnostic heterogeneity may make harmonizing data across these cohorts challenging. However, application of shared psychometric criteria across studies may lead to closer equivalence of MCI groups. Such approaches could pave the way for cohort harmonization and enable “big data” analytic approaches to understanding Alzhei­mer’s to be developed.

Exploring an e-learning community’s response to the language and terminology use in autism from two massive open online courses on autism education and technology use

Prior research has identified the divergence across different stakeholder groups in the semantic choice of language when describing autism, as members of the autism and autistic community preferred to use identity- first language (autistic person), whereas professionals were more likely to use person- first language (person with autism). This study explored 803 e-learners’ responses from their comments across two massive open online courses on autism education held between 2017 and 2019. Comments from members of the autistic and autism community and professionals were analysed together using thematic analysis, to identify shared opinions on what, why and how language should be used when describing autism across stakeholder groups. Learners agreed that autistic individuals should guide others on which terminology to use when describing autism and that the diagnostic label is a way to facilitate understanding across stakeholder groups and help the individual gain access to support. Semantic language choices may matter less as long as the person’s difficulties are clearly acknowledged, with adaptations made to meet their specific needs. Adding to a growing body of literature on terminology use in autism research and practice, we highlight that consideration for semantic choice of language use should focus on communicating an individual’s strengths and differences. Lay abstract Within the neurodiversity movement, one recent divergence is in the semantic choice of language when describing autism, as members of the autism and autistic community preferred to use identity- first language (autistic person), whereas professionals were more likely to use person-first language (person with autism). This study explored 803 e-learners’ responses from their comments across two massive open online courses on autism education held between 2017 and 2019. Learners agreed that autistic individuals should guide others on which terminology to use when describing autism, and although identity-first language acknowledges autism as part of an individual’s identity, it can also conjure up negative stereotypes and be stigmatising. Although family, friends and professionals highlighted that the diagnostic label is a way to facilitate understanding across stakeholder groups and help autistic individuals gain access to support, autistic self-advocates found the process of disclosing autism as a form of disability to conflict with their sense of identity, and broader terms such as ‘autism spectrum’ failed to capture individual strengths and weaknesses. Semantic language choices may matter less as long as the person’s difficulties are clearly acknowledged, with adaptations made to meet their specific needs. Adding to a growing body of literature on terminology use in autism research and practice, we highlight that language used when describing autism should follow the autistic individual’s lead, with the primary focus on communicating an individual’s strengths and difficulties, to foster a sense of positive autism identity and inclusivity, and enable access to appropriate support.

Is ‘persistent postural perceptual dizziness’ a helpful diagnostic label? A qualitative exploratory study

BACKGROUND: Persistent Postural Perceptual Dizziness (PPPD) is a recently defined functional syndrome. In other functional disorders there has been concern that the label itself can have negative effects, but research on patient views of PPPD is lacking. OBJECTIVE: To understand patient views of the PPPD label METHODS: Semi-structured interviews were conducted with 13 people with PPPD and thematically analysed. RESULTS: Four themes were identified. Theme 1 reflects reassurance and validation received through a ‘label’. Theme 2 reflects re-evaluation of illness-beliefs, with the diagnosis giving greater perception of control but also perception of having serious consequences. Theme 3 reflects difficulty understanding terminology. Participants rarely understood “persistent”, “perceptual” and “postural”. They did not tend to use the term “PPPD” to others or themselves. Some interpreted “persistent” as meaning “poor prognosis”. Theme 4 reflects lack of psychological attribution, since participants normalised the experience of distress, but did not view this as part of PPPD. CONCLUSIONS: These data support the relevance of PPPD beyond simply classification. However patients found the components of the term itself confusing and did not tend to adopt it when relating their condition to others or themselves. Simplifying the nomenclature could facilitate shared understanding and management, even potentially influencing outcome.