Categorical Diagnosis Research Articles

Psychosis superspectrum II: neurobiology, treatment, and implications.

Alternatives to traditional categorical diagnoses have been proposed to improve the validity and utility of psychiatric nosology. This paper continues the companion review of an alternative model, the psychosis superspectrum of the Hierarchical Taxonomy of Psychopathology (HiTOP). The superspectrum model aims to describe psychosis-related psychopathology according to data on distributions and associations among signs and symptoms. The superspectrum includes psychoticism and detachment spectra as well as narrow subdimensions within them. Auxiliary domains of cognitive deficit and functional impairment complete the psychopathology profile. The current paper reviews evidence on this model from neurobiology, treatment response, clinical utility, and measure development. Neurobiology research suggests that psychopathology included in the superspectrum shows similar patterns of neural alterations. Treatment response often mirrors the hierarchy of the superspectrum with some treatments being efficacious for psychoticism, others for detachment, and others for a specific subdimension. Compared to traditional diagnostic systems, the quantitative nosology shows an approximately 2-fold increase in reliability, explanatory power, and prognostic accuracy. Clinicians consistently report that the quantitative nosology has more utility than traditional diagnoses, but studies of patients with frank psychosis are currently lacking. Validated measures are available to implement the superspectrum model in practice. The dimensional conceptualization of psychosis-related psychopathology has implications for research, clinical practice, and public health programs. For example, it encourages use of the cohort study design (rather than case-control), transdiagnostic treatment strategies, and selective prevention based on subclinical symptoms. These approaches are already used in the field, and the superspectrum provides further impetus and guidance for their implementation. Existing knowledge on this model is substantial, but significant gaps remain. We identify outstanding questions and propose testable hypotheses to guide further research. Overall, we predict that the more informative, reliable, and valid characterization of psychopathology offered by the superspectrum model will facilitate progress in research and clinical care.

MMPI-2-RF validity scales add utility for predicting treatment engagement during partial psychiatric hospitalizations.

Partial psychiatric hospitalizations are resource-intensive clinical services designed to stabilize patients in the short term, prevent inpatient hospitalizations, and encourage long-term recovery. Typically, providers base their referral decisions on categorical diagnoses and subjective impressions of patient distress without closely considering the evidence for reporting biases. The present study followed veterans (n = 430) participating in partial psychiatric hospitalization services. We evaluated the extent to which clinical diagnoses at intake predicted treatment variables and changes in later mental health care utilization. Using hierarchical linear regressions with bootstrap confidence intervals, Minnesota Multiphasic Personality Inventory-2-Restructured Form content-based validity scales demonstrated incremental utility for predicting patient outcomes beyond intake diagnoses. Elevated Fp-r ("Infrequent Psychopathology Responses") scores independently predicted an increased number of times arriving late for partial hospitalization programming, self-report of worse current functioning at intake, and a relative increase in mental health care encounters in the 12 months following discharge. Low K-r ("Adjustment Validity") scores independently predicted self-report of worse current functioning at both intake and later discharge from partial hospitalization. Thus, indicators of severe psychopathology overreporting as well as the unlikely disavowal of emotional adjustment (i.e., high Fp-r, low K-r) predicted engagement with health care services and self-presentations of symptoms over and above the diagnostic impressions from referring providers. We discuss how indicators of content-based invalid responding on the Minnesota Multiphasic Personality Inventory-2-Restructured Form have real-world value for understanding patient behavior and shaping clinical interventions among vulnerable populations. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Problematic use of Internet in a sample of psychiatric outpatients: preliminary observations from the "real world".

This study aims to explore the prevalence, characteristics, and psychopathology related to Problematic Use of Internet (PUI), including Internet Addiction (IA), within a sample of psychiatric outpatients. 143 psychiatric stable outpatients (18-65, mean age: 49; F=84) were included in this study, regardless of their categorical diagnosis. Socio-demographic, clinical, psychopathological, and Internet use-related data (PIU-Scale, Internet Addiction Test, devices, use, activities) were collected across the sample. The prevalence of PUI ranged between 1% (IAT) and 25% (PIU-S), with a homogeneous distribution of PUI symptoms' severity among the four main psychopathological areas (depressive, bipolar, anxiety, and psychotic disorders). PUI was correlated with age and was higher in students as in the general population. Significant associations were found between PUI symptoms and both personality and eating disorders; PUI was also positively correlated with the presence of other addictions (e.g., alcohol and/or substances). A greater proportion of patients with PUI presented other forms of behavioural addiction compared to non-symptomatic patients. Social media and online shopping, as well as video-streaming, resulted to be the main forms of PUI among patients with problematic use of the Internet. More studies are required among students diagnosed with eating and personality disorders. The association between PUI and other addictive disorders would support the hypothesis of their common shared pathophysiology. Healthcare providers and educators should be made aware of such risks. More studies are needed to confirm such preliminary findings.

Tau maturation in the clinicopathological spectrum of Lewy body and Alzheimer's disease.

Alzheimer's disease neuropathologic change and alpha-synucleinopathy commonly co-exist and contribute to the clinical heterogeneity of dementia. Here, we examined tau epitopes marking various stages of tangle maturation to test the hypotheses that tau maturation is more strongly associated with beta-amyloid compared to alpha-synuclein, and within the context of mixed pathology, mature tau is linked to Alzheimer's disease clinical phenotype and negatively associated with Lewy body dementia. We used digital histology to measure percent area-occupied by pathology in cortical regions among individuals with pure Alzheimer's disease neuropathologic change, pure alpha-synucleinopathy, and a co-pathology group with both Alzheimer's and alpha-synuclein pathologic diagnoses. Multiple tau monoclonal antibodies were used to detect early (AT8, MC1) and mature (TauC3) epitopes of tangle progression. We used linear/logistic regression to compare groups and test the association between pathologies and clinical features. There were lower levels of tau pathology (β = 1.86-2.96, p < 0.001) across all tau antibodies in the co-pathology group compared to the pure Alzheimer's pathology group. Among individuals with alpha-synucleinopathy, higher alpha-synuclein was associated with greater early tau (AT8 β = 1.37, p < 0.001; MC1 β = 1.2, p < 0.001) but not mature tau (TauC3 p = 0.18), whereas mature tau was associated with beta-amyloid (β = 0.21, p = 0.01). Finally, lower tau, particularly TauC3 pathology, was associated with lower frequency of both core clinical features and categorical clinical diagnosis of dementia with Lewy bodies. Mature tau may be more closely related to beta-amyloidosis than alpha-synucleinopathy, and pathophysiological processes of tangle maturation may influence the clinical features of dementia in mixed Lewy-Alzheimer's pathology.

MI-DenseCFNet: deep learning–based multimodal diagnosis models for Aureus and Aspergillus pneumonia

ObjectiveTo build and merge a diagnostic model called multi-input DenseNet fused with clinical features (MI-DenseCFNet) for discriminating between Staphylococcus aureus pneumonia (SAP) and Aspergillus pneumonia (ASP) and to evaluate the significant correlation of each clinical feature in determining these two types of pneumonia using a random forest dichotomous diagnosis model. This will enhance diagnostic accuracy and efficiency in distinguishing between SAP and ASP.MethodsIn this study, 60 patients with clinically confirmed SAP and ASP, who were admitted to four large tertiary hospitals in Kunming, China, were included. Thoracic high-resolution CT lung windows of all patients were extracted from the picture archiving and communication system, and the corresponding clinical data of each patient were collected.ResultsThe MI-DenseCFNet diagnosis model demonstrates an internal validation set with an area under the curve (AUC) of 0.92. Its external validation set demonstrates an AUC of 0.83. The model requires only 10.24s to generate a categorical diagnosis and produce results from 20 cases of data. Compared with high-, mid-, and low-ranking radiologists, the model achieves accuracies of 78% vs. 75% vs. 60% vs. 40%. Eleven significant clinical features were screened by the random forest dichotomous diagnosis model.ConclusionThe MI-DenseCFNet multimodal diagnosis model can effectively diagnose SAP and ASP, and its diagnostic performance significantly exceeds that of junior radiologists. The 11 important clinical features were screened in the constructed random forest dichotomous diagnostic model, providing a reference for clinicians.Clinical relevance statementMI-DenseCFNet could provide diagnostic assistance for primary hospitals that do not have advanced radiologists, enabling patients with suspected infections like Staphylococcus aureus pneumonia or Aspergillus pneumonia to receive a quicker diagnosis and cut down on the abuse of antibiotics.Key points• MI-DenseCFNet combines deep learning neural networks with crucial clinical features to discern between Staphylococcus aureus pneumonia and Aspergillus pneumonia.• The comprehensive group had an area under the curve of 0.92, surpassing the proficiency of junior radiologists.• This model can enhance a primary radiologist’s diagnostic capacity.

Profiles of theory of mind impairments and personality in clinical and community samples: integrating the alternative DSM-5 model for personality disorders.

Deficits in theory of mind (ToM)-the ability to infer the mental states of others-have been linked to antagonistic traits in community samples. ToM deficits have also been identified in people with personality disorders (PD), although with conflicting evidence, partly due to the use of categorical diagnoses. The DSM-5 Alternative Model for Personality Disorders (AMPD) provides an opportunity for a more precise understanding of the interplay between ToM abilities and personality pathology. Therefore, the study aims to determine whether and how individuals with diverse ToM profiles differ regarding personality impairment (AMPD Criterion A) and pathological facets (AMPD Criterion B). Adults with PD (n = 39) and from the community (n = 42) completed tests assessing ToM skills and self-reported questionnaires assessing AMPD Criteria A and B. Hierarchical agglomerative and TwoStep cluster analyses were consecutively computed using scores and subscores from ToM tests as clustering variables. Multivariate analyses of variance were subsequently performed to compare the clusters on both AMPD Criteria. Five clinically and conceptually meaningful clusters were found. The most notable differences across clusters were observed for Intimacy and Empathy dysfunctions (Criterion A), as well as for the Deceitfulness, Callousness, and Hostility facets from the Antagonism domain and the Restricted affectivity facet from the Detachment domain (Criterion B). The results support the association between antagonistic personality facets and ToM deficits. However, clusters showing impairments in ToM abilities did not necessarily exhibit high levels of personality dysfunction or pathological facets, emphasizing that both constructs are not isomorphic. Nevertheless, specific profiles can help refine existing interventions to make them more sensitive and specific to the nature of ToM dysfunctions while considering personality functioning and facets.

Development of the scrupulosity inventory: A factor analysis and construct validity study

Background and objectivesScrupulosity, despite its considerable prevalence and morbidity, remains under-investigated. The present study develops and examines the psychometric properties of a comprehensive assessment tool, the Scrupulosity Inventory (SI). MethodsThe SI, along with other measures of obsessive-compulsive disorder (OCD) and perfectionism, were administered to a sample (N = 150) of college undergraduates similar in size to other scale development studies of related measures. We conducted exploratory and confirmatory factor analyses of the SI, examined its convergent and divergent validity, and assessed its ability to predict categorical diagnoses of scrupulosity using a receiver operator characteristic analysis. ResultsWe found a well-fitting confirmatory bifactor model (RMSEA = 0.049) with a strong general Scrupulosity factor (ωHS=0.907) and specific factors for Personal Violations (ωHS=0.212), Ritualized Behavior (ωHS=0.505), Interference with Life (ωHS=0.254), and Problem Pervasiveness (ωHS=0.430). As predicted, we also found the strongest convergence (r = 0.63) between the SI and the Penn Inventory of Scrupulosity (PIOS), intermediate convergence (r = 0.54) between the SI and Perfectionism Inventory (PI), and weaker convergence (r = 0.47) between the SI and YBOCS. Finally, we found that a categorical diagnosis of scrupulosity was highly predicted by the SI (AUC = 0.84), less well-predicted by the PIOS (AUC = 0.75) and less well predicted by the YBOCS (AUC = 0.69). LimitationsThis study was conducted among a sample of undergraduates at a religiously affiliated university. ConclusionsThese results suggest utility in using the SI to measure the severity of scrupulosity symptoms and that scrupulosity and OCD may present significantly different clinical features.

The Influence of Personality Functioning and Pathological Traits on the Mental Well-being of Older Persons with Personality Disorders

Background:Why should you pay attention to personality pathology in geriatric psychiatry? To what extent is mental well-being determined by this? How does that relate to the influence of mental disorders? Does the Alternative Dimensional Model of Personality pathology (AMPD) as proposed by the DSM-5 provide more insight into this than the DSM-IV and DSM-5 categorical diagnoses of personality disorders?Method:These questions were examined in baseline data of 145 patients included in our randomized controlled trial (RCT) into group Schema therapy enriched with psychomotor therapy in older patients with a personality disorder (see Oude Voshaar in this symposium). Mental well-being was measured by a combination of psychological distress (53-item Brief Symptom Inventory), positive mental health (Warwick-Edinburgh Mental Well-being Scale), assessment of own health (RAND-36), and satisfaction with life (Cantrill’s ladder). Personality pathology was assessed according to the categorical personality model using the Structured Clincal Interview for Personality Disorder (SCID-II) as well as the AMDP DSM-5 model using the Severity Indices of Personality Problems (SIPP-short form) and the Personality Iventory for DSM-5 (PID-25). The relationship between personality pathology and mental well-being was investigated using multivariate regression analysis.Results:Three quarters of the included people with a personality disorder also had another psychiatric disorder (beyond personality pathology). However, personality pathology was found to be responsible for the bulk of the mental health burden and outweighed the influence of these psychiatric disorders. Personality dimensions were highly predictive of mental well-being. This contrasted with the absence of any influence from categorical personality disorders. Although dimensions of personality functioning – and in particular Identity Integration – were the primary predictors of mental well-being, pathological traits added significant predictive value (particularly Disinhibition and Negative Affectivity).Conclusions:Personality pathology seriously affects the mental well-being of patients and exceeds the impact of comorbid psychiatric disorders. Contrary to the assumption in the alternative DSM-5 and ICD-10 model, both personality functioning and pathological traits contribute to this impact on mental well-being. Screening and systematic assessment of personality pathology in geriatric psychiatry seems warranted.

The relationship between mood disorders, personality disorder and suicidality in adolescence: does general personality disturbance play a significant role in predicting suicidal behavior?

IntroductionCurrent research points to the importance personality pathology and Major Depression e as relevant psycopathological risk factors for understanding suicidal risk in adolescence. Literature has mainly focused on the role of BPD, however current orientations in personality pathological functioning suggest that BPD may be the representative of a general personality disturbance, a factor of vulnerability underlying diverse psychopathological variants and aspects of maladaptive functioning. However, recent studies seem to have neglected the contributions that other specific personality disorders and personality pathology as a general factor of vulnerability for suicidality; and only marginally investigated the interaction of personality disorder (PD) as an overall diagnosis and individual PDs and major depression (MDD).In this paper, the independent and cumulative effects of MDD and DSM-IV PDs on suicidal risk are investigated in a sample of adolescents observed in a longitudinal window of observation ranging from three months preceding the assessment to a six-month follow up period of clinical monitoring.MethodsA sample of 118 adolescents (mean age = 15.48 ± 1.14) referred for assessment and treatment on account of suicidal ideation or behavior were administered the CSSRS, SCID II, Kiddie-SADS at admission at inpatient and outpatient Units. All subjects included in the study had reported suicidal ideation or suicide attempts at the C-SSRS; The CSSRS was applied again to all patients who reported further suicidal episodes during the six-months follow-up period of clinical monitoring. Dimensional diagnoses of PDs was obtained by summing the number of criteria met by each subject at SCID-%-PD 5, In order, to test the significance of the associations between the variables chosen as predictors (categorical and dimensional PDs and MD diagnosis), and the suicidal outcomes variables suicide attempts, number of suicide attempts and potential lethality of suicide attempt, non-parametric bivariate correlations, logistic regression models and mixed-effects Poisson regression were performed PD.ResultsThe categorical and dimensional diagnosis of PD showed to be a significant risk factors for suicide attempt and their recurrence, independently of BPD, that anyway was confirmed to be a specific significant risk factor for suicidal behaviors. Furthermore, PD assessed at a categorical and dimensional level and Major Depression exert an influence on suicidal behaviors and their lethality both as independent and cumulative risk factors.LimitationsBesides incorporating dimensional thinking into our approach to assessing psychopathology, our study still relied on traditionally defined assessment of PD. Future studies should include AMPD-defined personality pathology in adolescence to truly represent dimensional thinking.ConclusionThese results point to the importance of early identification of the level of severity of personality pathology at large and its co-occurrence with Major Depression for the management of suicidal risk in adolescence.

Is Child Maltreatment a Risk Factor for Borderline Personality Disorder? A Systematic Review of Prospective Longitudinal Studies

Background:Borderline personality disorder (BPD) is a clinical condition associated with numerous individual and collective negative consequences. According to several etiological theories and retrospective research, child maltreatment (CM) may be considered a central factor explaining BPD development.Objectives:In order to verify this hypothesis, a systematic review of prospective longitudinal studies was conducted.Methods:Following searches in five electronic databases, 19 articles that examined the relationship between CM (i.e., physical, sexual and emotional abuse; physical and emotional neglect) and BPD (i.e., diagnosis or severity score) were selected.Results:Overall, the results only partly confirm the hypothesis that CM is a risk factor for BPD. Evidence for a prospective relationship between CM and later BPD is stronger in studies using a symptom count compared to a categorical diagnosis. However, the small number of studies precludes assessing the differential impacts between CM types and BPD.Conclusion:Available prospective longitudinal studies do not unequivocally support the idea that CM is a robust risk factor for BPD. Future research needs are discussed.

The effect of COVID-19 pandemic on stroke admissions to a city

Aims: The COVID-19 pandemic has brought about significant changes in healthcare around the world. The idea that hospital admissions due to cerebrovascular diseases may be affected during global epidemics made us do this study. In this study, we aimed to evaluate the effects of the pandemic and curfew restrictions on stroke applications and admissions in Bursa at the local level.&#x0D; Methods: Our study was conducted by retrospectively scanning the patients who received treatment for cerebrovascular diseases in our hospital between 01.01.2018 and 31.12.2021. The admission dates, ages and International Classification of Diseases (ICD-10) codes of the patients included in the study were recorded. ICD-10 codes were categorized as bleeding (I60/I61/I62), infarct (I63), nonspecific (I64/I67), other (I65/I66/I68/I69) for use in analyses. Patients under the age of 18 and patients with missing file data were excluded from the study. The files of a total of 6997 patients were accessed.&#x0D; Results: When in this study look at the number of patients by years, it was seen that there were 1326 people in 2018, 1562 people in 2019, 1916 people in 2020, and 2187 people in 2021. It is noteworthy that if we call the years 2018-2019, when there is no COVID-19 pandemic, as prepandemic, and if we call the years 2020-2021, when the COVID-19 pandemic is experienced, as pandemic, the cases due to infarction (I63) increase approximately twice. In the chi-square analysis we performed between categorical diagnoses and years, a statistical difference was found between years and diagnoses (p

The Reliability of Expert Diagnosis of Childhood Apraxia of Speech.

The current standard for clinical diagnosis of childhood apraxia of speech (CAS) is expert clinician judgment. The psychometric properties of this standard are not well understood; however, they are important for improving clinical diagnosis. The purpose of this study is to determine the extent to which experts agree on the clinical diagnosis of CAS using two cohorts of children with mixed speech sound disorders (SSDs). Speech samples of children with SSDs were obtained from previous and ongoing research from video recordings of children aged 3-8 years (n = 36) and audio recordings of children aged 8-17 years (n = 56). A total of 23 expert, English-speaking clinicians were recruited internationally. Three of these experts rated each speech sample to provide a description of the observed features and a diagnosis. Intrarater reliability was acceptable at 85% agreement. Interrater reliability on the presence or absence of CAS among experts was poor both as a categorical diagnosis (κ = .187, 95% confidence interval [CI] [0.089, 0.286]) and on a continuous "likelihood of CAS" scale (0-100; intraclass correlation = .183, 95% CI [.037, .347]). Reliability was similar across the video-recorded and audio-only samples. There was greater agreement on other diagnoses (such as articulation disorder) than on the diagnosis of CAS, although these too did not meet the predetermined standard. Likelihood of CAS was greater in children who presented with more American Speech-Language-Hearing Association CAS consensus features. Different expert raters had different thresholds for applying the diagnosis of CAS. If expert clinician judgment is to be used for diagnosis of CAS or other SSDs, further standardization and calibration is needed to increase interrater reliability. Diagnosis may require operationalized checklists or reliable measures that operate along a diagnostic continuum. https://doi.org/10.23641/asha.23949105.

Diagnostic Accuracy of Primary Care Clinicians Across a Statewide System of Autism Evaluation.

To evaluate the diagnostic accuracy of the Early Autism Evaluation (EAE) Hub system, a statewide network that provides specialized training and collaborative support to community primary care providers in the diagnosis of young children at risk for autism spectrum disorder (ASD). EAE Hub clinicians referred children, aged 14 to 48 months, to this prospective diagnostic study for blinded follow-up expert evaluation including assessment of developmental level, adaptive behavior, and ASD symptom severity. The primary outcome was agreement on categorical ASD diagnosis between EAE Hub clinician (index diagnosis) and ASD expert (reference standard). Among 126 children (mean age: 2.6 years; 77% male; 14% Latinx; 66% non-Latinx white), 82% (n = 103) had consistent ASD outcomes between the index and reference evaluation. Sensitivity was 81.5%, specificity was 82.4%, positive predictive value was 92.6%, and negative predictive value was 62.2%. There was no difference in accuracy by EAE Hub clinician or site. Across measures of development, there were significant differences between true positive and false negative (FN) cases (all Ps < .001; Cohen's d = 1.1-1.4), with true positive cases evidencing greater impairment. Community-based primary care clinicians who receive specialty training can make accurate ASD diagnoses in most cases. Diagnostic disagreements were predominately FN cases in which EAE Hub clinicians had difficulty differentiating ASD and global developmental delay. FN cases were associated with a differential diagnostic and phenotypic profile. This research has significant implications for the development of future population health solutions that address ASD diagnostic delays.

Evaluation of Birth Weight and Neurodevelopmental Conditions Among Monozygotic and Dizygotic Twins

Low birth weight is associated with an increased likelihood of neurodivergence and neurodevelopmental conditions (NDCs) such as autism, attention-deficit/hyperactivity disorder (ADHD), and intellectual disability. However, it is unclear whether birth weight contributes independently to NDCs or whether the association is predominantly driven by genetic predisposition. To estimate the associations between birth weight and dimensional (trait) and categorical (diagnoses) NDC outcomes, while adjusting for genetic risks. A co-twin design was applied to this case-control study conducted in Sweden. Diagnostic assessments were conducted between August 2011 and March 2022, within the Roots of Autism and ADHD Twin Study in Sweden (RATSS) during a 2.5-day participant visit to the clinic. The RATSS sample comprised phenotyped monozygotic and dizygotic twins enriched for NDCs. Data analysis was conducted in November 2022. Birth weight. Categorical and dimensional operationalizations of autism, ADHD, and intellectual disability were assessed. Generalized estimating equation models were fitted across and within twin pairs. The study sample included 393 twins: 230 were monozygotic and 159 were dizygotic (zygosity was unknown for 4). Their median age was 15 (range, 8-37) years. There were 185 female participants (47.1%) and 208 male participants (52.9%). Across twin pairs, higher birth weight was associated with fewer autistic traits (unstandardized β [B], -5.51 [95% CI, -10.09 to -0.94]) and lower odds of autism diagnosis (OR, 0.63 [95% CI, 0.45 to 0.88]) and intellectual disability (OR, 0.42 [95% CI, 0.19 to 0.92]). Within pairs, the association between birth weight and dimensional autism (B, -17.35 [95% CI, -28.66 to -6.04]) and categorical autism (OR, 0.02 [95% CI, 0.001 to 0.42]) remained among monozygotic pairs but not dizygotic pairs. In addition, higher birth weight was associated with lower odds of ADHD diagnosis (OR, 0.003 [95% CI, 0 to 0.70]), fewer ADHD traits (B, -0.25 [95% CI, -0.39 to -0.11]), and higher IQ ratings (B, 7.43 [95% CI, 1.05 to 13.82]) among monozygotic twins. The findings of this co-twin study suggest an association between low birth weight and NDCs, but they also acknowledge the importance of genetics because the associations observed were only statically significant among monozygotic twins. It is of pivotal importance to facilitate early identification of factors contributing to fetal growth restriction to minimize detrimental outcomes.

Phenotypic effects of genetic variants associated with autism

While over 100 genes have been associated with autism, little is known about the prevalence of variants affecting them in individuals without a diagnosis of autism. Nor do we fully appreciate the phenotypic diversity beyond the formal autism diagnosis. Based on data from more than 13,000 individuals with autism and 210,000 undiagnosed individuals, we estimated the odds ratios for autism associated to rare loss-of-function (LoF) variants in 185 genes associated with autism, alongside 2,492 genes displaying intolerance to LoF variants. In contrast to autism-centric approaches, we investigated the correlates of these variants in individuals without a diagnosis of autism. We show that these variants are associated with a small but significant decrease in fluid intelligence, qualification level and income and an increase in metrics related to material deprivation. These effects were larger for autism-associated genes than in other LoF-intolerant genes. Using brain imaging data from 21,040 individuals from the UK Biobank, we could not detect significant differences in the overall brain anatomy between LoF carriers and non-carriers. Our results highlight the importance of studying the effect of the genetic variants beyond categorical diagnosis and the need for more research to understand the association between these variants and sociodemographic factors, to best support individuals carrying these variants.

Stalling or oiling the engines of diagnosis? Shifting perspectives on the DSM and categorical diagnosis in psychiatry.

Diagnosis in psychiatry and its precursors has long attracted debate and dissent. Attempts to discipline professional praxis are associated especially with the American Psychiatric Association's (APA) Diagnostic and Statistical Manual of Mental Disorders (DSM). In this article, I explore how social actors with the institutional power to contribute in important ways to shaping psychiatric contexts construct the problems with and purposes of the DSM and of diagnosis in psychiatry. I suggest that despite common assumptions that influential psychiatrists and related stakeholders uncritically adopt the DSM and other tools of categorical diagnosis, their relationship with these is rather more nuanced, ambivalent, and even fraught. However, I will also show that critiques can themselves be folded into particular styles of psychiatric thought in ways that do little to impact wider concerns about biomedicalisation and pharmaceuticalisation-and might even further accelerate these processes. Moreover, since professional critiques of the DSM often underscore its ubiquity and entrenchment, when positioned against implicit or explicit justifications of the ongoing use of this text they might inadvertently contribute to a 'discourse of inevitability'-acting to 'oil' rather than 'stall' what Annemarie Jutel terms the 'engines of diagnosis'.

What are quantitative traits and how can they be used in autism research?

Quantitative traits are measurable characteristics distributed along a continuous scale thought to relate to underlying biology. There is growing interest in the use of quantitative traits in behavioral and psychiatric research, particularly in research on conditions diagnosed based on reports of behaviors, including autism. This brief commentary describes quantitative traits, including defining what they are, how we can measure them, and key considerations for their use in autism research. Examples of measures include behavioral report scales like the Social Responsiveness Scale and Broader Autism Phenotype Questionnaire, as well as biological measurements, like certain neuroimaging metrics; such measures can capture quantitative traits or constructs like the broader autism phenotype, social communication, and social cognition. Quantitative trait measures align with the Research Domain Criteria (RDoC) approach and can be used in autism research to help gain a better understanding of causal pathways and biological processes. They can also be used to aid identification ofgenetic and environmental factors involved in such pathways, and thereby lead to an understanding of influences on traits across the entire population. Finally, in some cases, they may be used to gauge treatment response, and assist screening and clinical characterization of phenotype. In addition, practical benefits of quantitative trait measures include improved statistical power relative to categorical classifications and (for some measures) efficiency. Ultimately, research across autism fields may benefit from incorporating quantitative trait measures as a complement to categorical diagnosis to advance understanding of autism and neurodevelopment.

Ötetanısal (Transdiyagnostik) Bilişsel Davranışçı Psikoterapi: Bütünleşik Protokol Örneği

The fact that there are many limitations of the current classification systems led to the emergence of transdiagnostic approaches (TA) that focus on the common psychopathological processes underlying disorders rather than categorical diagnoses. TA focuses on the underlying common psychopathological processes in the emergence and persistence of mental disorders. Thus, even if the disorders are categorically diagnosed differently, it can be determined how they overlap or separate with each other. TA aims to treat mental disorders using these aspects. TA has a flexible and modular structure that can be easily integrated into cognitive behavioral therapies. The rest of this review will focus on the Unified Protocol (UP), one of the most popular TA examples. The main purpose of the UP is to enable patients to recognize their feelings and give more adaptive reactions to their negative emotions. Accordingly, UP consists of eight modules. The modules can usually be completed in a total of 11 - 17 weeks. Each 50 to 60-minute individual session is held once a week. If necessary, changes can be made to the number or the frequency of sessions allocated to modules. The goals of each module of the UP and the treatment approaches towards these goals allow a very clearly defined approach. For this reason, there is a need for a detailed evaluation, conceptualization and treatment plan before the UP is put into practice. We hope that mental health professionals from Turkey will contribute to the developments in the UP.

Clinical characteristics and outcomes of Chinese patients with coronary heart disease and resistant hypertension.

There is currently few research on clinical characteristics and outcomes of coronary heart disease (CHD) with resistant hypertension in central region of China. This study aimed to assess the risk factors and outcomes of CHD and resistant hypertension in population of central region of China. A total of 1467 CHD patients with hypertension were included and considered to three groups according to blood pressure control: controlled group (blood pressure<140/90mmHg on three or less antihypertensive drugs); uncontrolled group (blood pressure≥140/90mmHg on two or less antihypertensive drugs); or resistant group (blood pressure≥140/90mmHg on three antihypertensive drugs or<140/90mmHg on at least four antihypertensive drugs including diuretic). The authors evaluated the clinical outcomes of three groups at 1-year follow-up. The prevalence of resistant hypertension was 21.8%. Significant adjusted associated factors of resistant hypertension included per unit changes body mass index (BMI, OR 1.12), and four categorical variable diagnosis by yes or no: heart failure (HF, OR 2.62), left ventricular hypertrophy (LVH, OR 2.83), diabetes (OR 1.55), and chronic kidney disease (CKD, OR 1.63). In multiple adjusted Cox regression analysis, patients in resistant group had a higher risk of the primary outcome (HR, 2.14 [95% CI, 1.47-3.11]; p<.001). Moreover, the risk of atherosclerotic cardiovascular disease (ASCVD) in patients with resistant hypertension is also significantly increased (HR, 2.11 [95% CI, 1.39-3.20]; p<.001). In conclusion, resistant hypertension was a quite common and high proportion finding in patients with CHD and hypertension in central region of China, and these patients have a worse clinical prognosis.

Multivariate Associations Among White Matter, Neurocognition, and Social Cognition Across Individuals With Schizophrenia Spectrum Disorders and Healthy Controls.

Neurocognitive and social cognitive abilities are important contributors to functional outcomes in schizophrenia spectrum disorders (SSDs). An unanswered question of considerable interest is whether neurocognitive and social cognitive deficits arise from overlapping or distinct white matter impairment(s). We sought to fill this gap, by harnessing a large sample of individuals from the multi-center Social Processes Initiative in the Neurobiology of the Schizophrenia(s) (SPINS) dataset, unique in its collection of advanced diffusion imaging and an extensive battery of cognitive assessments. We applied canonical correlation analysis to estimates of white matter microstructure, and cognitive performance, across people with and without an SSD. Our results established that white matter circuitry is dimensionally and strongly related to both neurocognition and social cognition, and that microstructure of the uncinate fasciculus and the rostral body of the corpus callosum may assume a "privileged role" subserving both. Further, we found that participant-wise estimates of white matter microstructure, weighted by cognitive performance, were largely consistent with participants' categorical diagnosis, and predictive of (cross-sectional) functional outcomes. The demonstrated strength of the relationship between white matter circuitry and neurocognition and social cognition underscores the potential for using relationships among these variables to identify biomarkers of functioning, with potential prognostic and therapeutic implications.