Borderline personality disorder (BPD) is a debilitating condition characterized by pervasive instability across multiple major domains of functioning. The majority of persons with BPD engage in self-injury and up to 10% die by suicide – rendering persons with this condition at exceptionally elevated risk of comorbidity and premature mortality. Better characterization of clinical risk factors among persons with BPD who die by suicide is urgently needed.

We examined patterns of medical and psychiatric diagnoses (1580 to 1700 Phecodes) among persons with BPD who died by suicide (n = 379) via a large suicide death data resource and biobank. In phenotype-based phenome-wide association tests, we compared these individuals to three other groups: (1) persons who died by suicide without a history of BPD (n = 9468), (2) persons still living with a history of BPD diagnosis (n = 280), and (3) persons who died by suicide with a different personality disorder (other PD n = 589).

Multivariable logistic regression models revealed that persons with BPD who died by suicide were more likely to present with co-occurring psychiatric diagnoses, and have a documented history of self-harm in the medical system prior to death, relative to suicides without BPD. Posttraumatic stress disorder was more elevated among those with BPD who died by suicide relative to the other PD group.

We found significant differences among persons with BPD who died by suicide and all other comparison groups. Such differences may be clinically informative for identifying high-risk subtypes and providing targeted intervention approaches.

Although the link between alcohol involvement and behavioral phenotypes (e.g. impulsivity, negative affect, executive function [EF]) is well-established, the directionality of these associations, specificity to stages of alcohol involvement, and extent of shared genetic liability remain unclear. We estimate longitudinal associations between transitions among alcohol milestones, behavioral phenotypes, and indices of genetic risk.

Data came from the Collaborative Study on the Genetics of Alcoholism (n = 3681; ages 11–36). Alcohol transitions (first: drink, intoxication, alcohol use disorder [AUD] symptom, AUD diagnosis), internalizing, and externalizing phenotypes came from the Semi-Structured Assessment for the Genetics of Alcoholism. EF was measured with the Tower of London and Visual Span Tasks. Polygenic scores (PGS) were computed for alcohol-related and behavioral phenotypes. Cox models estimated associations among PGS, behavior, and alcohol milestones.

Externalizing phenotypes (e.g. conduct disorder symptoms) were associated with future initiation and drinking problems (hazard ratio (HR)⩾1.16). Internalizing (e.g. social anxiety) was associated with hazards for progression from first drink to severe AUD (HR⩾1.55). Initiation and AUD were associated with increased hazards for later depressive symptoms and suicidal ideation (HR⩾1.38), and initiation was associated with increased hazards for future conduct symptoms (HR = 1.60). EF was not associated with alcohol transitions. Drinks per week PGS was linked with increased hazards for alcohol transitions (HR⩾1.06). Problematic alcohol use PGS increased hazards for suicidal ideation (HR = 1.20).

Behavioral markers of addiction vulnerability precede and follow alcohol transitions, highlighting dynamic, bidirectional relationships between behavior and emerging addiction.

Cardiovascular risk factors and white matter hyperintensities predict the progression and severity of cognitive symptoms in PD. While controversial, emerging evidence suggests that cerebrovascular dysfunction is an etiological driver of protein aggregation in neurodegenerative conditions, highlighting a need to understand how cerebrovascular function impacts cognitive function in PD. MRI cerebrovascular reactivity (CVR) paradigms provide an opportunity to measure the ability of the cerebral vessels to dilate or constrict in response to challenges. The current study evaluates whether whole brain CVR measures, degree of response (fit) and delay differ in PD with normal cognition (PD-NC) and PD with mild cognitive impairment (PD-MCI) relative to healthy controls (HC). Additionally, we evaluate if these metrics are associated with cognitive performance.

8 PD-NC, 11 PD-MCI and 11 age and sex-matched healthy controls (HC) participated in the study. PD participants were diagnosed with MCI based on the Movement Disorders Society Task force, Level II assessment (comprehensive assessment). Participants were asked to inhale gas enriched in CO2 to elicit a vasodilatory response while undergoing bold oxygen level-dependent magnetic resonance image (MRI). Whole brain fit to an end-tidal CO2 regressor and delay were used to quantify CVR in each participant. An analysis of covariance (ANCOVA) was used to evaluate group differences between HC, PD-NC, and PD-MCI in the whole brain fit and delay CVR measures accounting for age, sex, and education. Multiple regressions were conducted for each cognitive variable with whole brain fit and delay as the dependent variables adjusting for age, sex, and education.

A significant main effect of group was observed for whole brain CVR latency (F(2, 23) = 4.227; p = 0.027). Post hoc tests were not significant, though indicated a trend that PD-NC (18.14 ±1.94) and PD-MCI (18.15 ± 1.55) patients exhibited longer delays relative to HC (15.84 ± 2.37). Regression results indicated limited relationships between CVR measures and cognitive functioning.

PD patients (PD-NC and PD-MCI) exhibited longer CVR delays relative to HC, suggesting a delayed vasodilatory response in PD. Examination of the association between CVR metrics and cognition were not significant, though these results should be interpreted with caution given the small sample size.

Neuromelanin imaging is an emerging biomarker for PD as it captures degeneration of the midbrain, a process which is associated with the motor symptoms of the disease. Currently, it is unknown whether this degeneration also contributes to cognitive dysfunction in PD beyond dysfunction associated with fronto-subcortical systems, as quantitative examination of substantia nigra (SN) degeneration could not be studied until recently.

In the current study, we examine whether neuromelanin signal is associated with broader cognitive dysfunction in PD patients with varying degrees of cognitive impairment: PD with normal cognition (PD-NC), PD with mild cognitive impairment (PD-MCI), and healthy controls (HC).

11 PD-NC, 16 PD-MCI and 14 age and sex-matched healthy controls (HC) participated in the study. PD participants were diagnosed with MCI based on the Movement Disorders Society Task force, Level II assessment (comprehensive assessment). In addition, all participants underwent an MRI scan that included a T1-weighted sequence and a neuromelanin-sensitive (NM-MRI) sequence. Contrast-to-noise-ratio of the substantia nigra pars compacta (SNc) was calculated and a distribution-corrected z-score was used to identify the number of extrema voxels for each individual, suggestive of the number of voxels that have exhibited significant degeneration (extrema_count). An analysis of covariance (ANCOVA) was used to evaluate group differences between HC, PD-NC, and PD-MCI in the extrema_count accounting for age, sex, and education. A multiple regression for each cognitive variable with extrema_count as the dependent variable adjusting for age, sex, and education were conducted.

A significant main effect of group (F(2, 33) = 33.548 ; p < 0.001) indicated that PD-NC (21.55 ± 12.57) and PD-MCI (43.64 ± 32.84) patients exhibited significantly greater extrema_counts relative to HC (3.36 ± 3.61; both p < 0.001). Regression results indicated that higher extrema_counts were associated with worse cognitive performance across cognitive domains, including working memory (Digit Span Backward; R2 = .357, F(1,20) = 5.295, p = .032), (Hopkins Verbal Learning Test - Revised, Trials 1 to 3; R2 = .432, F(1,20) = 5.819, p = .026).

PD patients (PD-NC and PD-MCI) exhibited decreased neuromelanin in the SNc relative to healthy controls, confirming the ability of the NM-MRI sequence to differentiate PD from HC. There was no significant difference in SNc neuromelanin levels between PD-NC patients and PD-MCI patients, however, this is likely due to the small sample size. In addition, significant SNc degeneration was associated with worse cognitive performances in tasks associated with working memory and executive functioning. These results warrant further examination of the role of SN in PD patients with differing levels of cognitive impairment.

PD patients commonly exhibit executive dysfunction early in the disease course which may or may not predict further cognitive decline over time. Early emergence of visuospatial and memory impairments, in contrast, are more consistent predictors of an evolving dementia syndrome. Most prior studies using fMRI have focused on mechanisms of executive dysfunction and have demonstrated that PD patients exhibit hyperactivation that is dependent on the degree of cognitive impairment, suggestive of compensatory strategies. No study has evaluated whether PD patients with normal cognition (PD-NC) and PD patients with Mild Cognitive Impairment (PD-MCI) exhibit compensatory activation patterns during visuospatial task performance.

10 PD-NC, 12 PD-MCI, and 14 age and sex-matched healthy controls (HC) participated in the study. PD participants were diagnosed with MCI based on the Movement Disorders Society Task Force, Level II assessment (comprehensive assessment). Functional magnetic resonance imaging (fMRI) was performed during a motion discrimination task that required participants to identify the direction of horizontal global coherent motion embedded within dynamic visual noise under Low and High coherence conditions. Behavioral accuracy and functional activation were evaluated using 3 * 2 analyses of covariance (ANCOVAs) (group [HC, PD-NC, PD-MCI] * Coherence [High vs. Low]) accounting for age, sex, and education. Analyses were performed in R (v4.1.2(Team, 2013)).

PD-MCI (0.702± 0.269) patients exhibited significantly lower accuracy on the motion discrimination task than HC (0.853 ± 0.241; p = 0.033) and PD-NC (0.880 ± 0.208; p =0.039). A Group * Coherence interaction was identified in which several regions, including orbitofrontal, posterior parietal and occipital cortex, showed increased activation during High relative to Low coherence trials in the PD patient groups but not in the HC group. HC showed default mode deactivation and frontal-parietal activation during Low relative to High coherence trials that was not evident in the patient groups.

PD-MCI patients exhibited worse visuospatial performance on a motion discrimination task than PD-NC and HC participants and exhibited hyperactivation of the posterior parietal and occipital regions during motion discrimination, suggesting possible compensatory activation.

Researchers have identified genetic and neural risk factors for externalizing behaviors. However, it has not yet been determined if genetic liability is conferred in part through associations with more proximal neurophysiological risk markers.

Participants from the Collaborative Study on the Genetics of Alcoholism, a large, family-based study of alcohol use disorders were genotyped and polygenic scores for externalizing (EXT PGS) were calculated. Associations with target P3 amplitude from a visual oddball task (P3) and broad endorsement of externalizing behaviors (indexed via self-report of alcohol and cannabis use, and antisocial behavior) were assessed in participants of European (EA; N = 2851) and African ancestry (AA; N = 1402). Analyses were also stratified by age (adolescents, age 12–17 and young adults, age 18–32).

The EXT PGS was significantly associated with higher levels of externalizing behaviors among EA adolescents and young adults as well as AA young adults. P3 was inversely associated with externalizing behaviors among EA young adults. EXT PGS was not significantly associated with P3 amplitude and therefore, there was no evidence that P3 amplitude indirectly accounted for the association between EXT PGS and externalizing behaviors.

Both the EXT PGS and P3 amplitude were significantly associated with externalizing behaviors among EA young adults. However, these associations with externalizing behaviors appear to be independent of each other, suggesting that they may index different facets of externalizing.

Polygenic risk scores (PRSs) capture genetic vulnerability to psychiatric conditions. However, PRSs are often associated with multiple mental health problems in children, complicating their use in research and clinical practice. The current study is the first to systematically test which PRSs associate broadly with all forms of childhood psychopathology, and which PRSs are more specific to one or a handful of forms of psychopathology.

The sample consisted of 4717 unrelated children (mean age = 9.92, s.d. = 0.62; 47.1% female; all European ancestry). Psychopathology was conceptualized hierarchically as empirically derived general factor (p-factor) and five specific factors: externalizing, internalizing, neurodevelopmental, somatoform, and detachment. Partial correlations explored associations between psychopathology factors and 22 psychopathology-related PRSs. Regressions tested which level of the psychopathology hierarchy was most strongly associated with each PRS.

Thirteen PRSs were significantly associated with the general factor, most prominently Chronic Multisite Pain-PRS (r = 0.098), ADHD-PRS (r = 0.079), and Depression-PRS (r = 0.078). After adjusting for the general factor, Depression-PRS, Neuroticism-PRS, PTSD-PRS, Insomnia-PRS, Chronic Back Pain-PRS, and Autism-PRS were not associated with lower order factors. Conversely, several externalizing PRSs, including Adventurousness-PRS and Disinhibition-PRS, remained associated with the externalizing factor (|r| = 0.040–0.058). The ADHD-PRS remained uniquely associated with the neurodevelopmental factor (r = 062).

PRSs developed to predict vulnerability to emotional difficulties and chronic pain generally captured genetic risk for all forms of childhood psychopathology. PRSs developed to predict vulnerability to externalizing difficulties, e.g. disinhibition, tended to be more specific in predicting behavioral problems. The results may inform translation of existing PRSs to pediatric research and future clinical practice.

Autism spectrum disorder (ASD) is characterized by persistent deficits in social communication and social interaction across multiple contexts and it is marked by repetitive sensory–motor behaviours and restricted interests or activities. Now recognized to occur in up to 1% of the population, the prevalence of ASD has registered a steady increase in the past two decades. Heterogeneity of presentation is a hallmark with comorbid psychiatric and medical morbidities frequently reported. Comorbidities mask and delay the diagnosis and are the cause of inadequate therapies.

In the present paper, we studied a cohort of patients with ASD, investigating the rates and types of psychiatric and medical comorbidities.

A retrospective study of psychiatric and medical comorbidities was carried out on a sample of 120 participants that met ASD criteria according to DSM-V. The patients were examined with a detailed medical history, physical examination, as well as some additional functional, imaging, laboratory and genetic investigations. The associated conditions considered were: attention deficit/hyperactivity disorder (ADHD), epilepsy, intellectual disability, gastrointestinal symptoms, ophtalmologic manifestations, infections.

Of the 120 ASD subjects referred, 25 (20.8%) received the diagnosis of epilepsy. ADHD was established in 24 cases (20%). IQ score was obtained in half of the patients, 43.3% of them presenting a severe intellectual disability (IQ<35). Respiratory disorders occured in 25% of the cases. Ophtalmological findings were observed in 9.1% of the cases. Other frequent comorbidities included motor disturbances and feeding problems.

A better understanding of comorbidities in ASD patients improves interdisciplinary collaboration, thus facilitating effective treatment programs.

No significant relationships.

Retrospective self-report is typically used for diagnosing previous pediatric traumatic brain injury (TBI). A new semi-structured interview instrument (New Mexico Assessment of Pediatric TBI; NewMAP TBI) investigated test–retest reliability for TBI characteristics in both the TBI that qualified for study inclusion and for lifetime history of TBI.

One-hundred and eight-four mTBI (aged 8–18), 156 matched healthy controls (HC), and their parents completed the NewMAP TBI within 11 days (subacute; SA) and 4 months (early chronic; EC) of injury, with a subset returning at 1 year (late chronic; LC).

The test–retest reliability of common TBI characteristics [loss of consciousness (LOC), post-traumatic amnesia (PTA), retrograde amnesia, confusion/disorientation] and post-concussion symptoms (PCS) were examined across study visits. Aside from PTA, binary reporting (present/absent) for all TBI characteristics exhibited acceptable (≥0.60) test–retest reliability for both Qualifying and Remote TBIs across all three visits. In contrast, reliability for continuous data (exact duration) was generally unacceptable, with LOC and PCS meeting acceptable criteria at only half of the assessments. Transforming continuous self-report ratings into discrete categories based on injury severity resulted in acceptable reliability. Reliability was not strongly affected by the parent completing the NewMAP TBI.

Categorical reporting of TBI characteristics in children and adolescents can aid clinicians in retrospectively obtaining reliable estimates of TBI severity up to a year post-injury. However, test–retest reliability is strongly impacted by the initial data distribution, selected statistical methods, and potentially by patient difficulty in distinguishing among conceptually similar medical concepts (i.e., PTA vs. confusion).

Perceived discrimination is associated with worse mental health. Few studies have assessed whether perceived discrimination (i) is associated with the risk of psychotic disorders and (ii) contributes to an increased risk among minority ethnic groups relative to the ethnic majority.

We used data from the European Network of National Schizophrenia Networks Studying Gene-Environment Interactions Work Package 2, a population-based case−control study of incident psychotic disorders in 17 catchment sites across six countries. We calculated odds ratios (OR) and 95% confidence intervals (95% CI) for the associations between perceived discrimination and psychosis using mixed-effects logistic regression models. We used stratified and mediation analyses to explore differences for minority ethnic groups.

Reporting any perceived experience of major discrimination (e.g. unfair treatment by police, not getting hired) was higher in cases than controls (41.8% v. 34.2%). Pervasive experiences of discrimination (≥3 types) were also higher in cases than controls (11.3% v. 5.5%). In fully adjusted models, the odds of psychosis were 1.20 (95% CI 0.91–1.59) for any discrimination and 1.79 (95% CI 1.19–1.59) for pervasive discrimination compared with no discrimination. In stratified analyses, the magnitude of association for pervasive experiences of discrimination appeared stronger for minority ethnic groups (OR = 1.73, 95% CI 1.12–2.68) than the ethnic majority (OR = 1.42, 95% CI 0.65–3.10). In exploratory mediation analysis, pervasive discrimination minimally explained excess risk among minority ethnic groups (5.1%).

Pervasive experiences of discrimination are associated with slightly increased odds of psychotic disorders and may minimally help explain excess risk for minority ethnic groups.

Genetics hold promise of predicting long-term post-traumatic stress disorder (PTSD) outcomes following trauma. The aim of the current study was to test whether six hypothesized polygenic risk scores (PRSs) developed to capture genetic vulnerability to psychiatric conditions prospectively predict PTSD onset, severity, and 18-year course after trauma exposure.

Participants were 1490 responders to the World Trade Center (WTC) disaster (mean age at 9/11 = 38.81 years, s.d. = 8.20; 93.5% male; 23.8% lifetime WTC-related PTSD diagnosis). Prospective longitudinal data on WTC-related PTSD symptoms were obtained from electronic medical records and modelled as PTSD trajectories using growth mixture model analysis. Independent regression models tested whether six hypothesized psychiatric PRSs (PTSD-PRS, Re-experiencing-PRS, Generalized Anxiety-PRS, Schizophrenia-PRS, Depression-PRS, and Neuroticism-PRS) are predictive of WTC-PTSD outcomes: lifetime diagnoses, average symptom severity, and 18-year symptom trajectory. All analyses were adjusted for population stratification, 9/11 exposure severity, and multiple testing.

Depression-PRS predicted PTSD diagnostic status (OR 1.37, CI 1.17–1.61, adjusted p = 0.001). All PRSs, except PTSD-PRS, significantly predicted average PTSD symptoms (β = 0.06–0.10, adjusted p < 0.05). Re-experiencing-PRS, Generalized Anxiety-PRS and Schizophrenia-PRS predicted the high severity PTSD trajectory class (ORs 1.21–1.28, adjusted p < 0.05). Finally, PRSs prediction was independent of 9/11 exposure severity and jointly accounted for 3.7 times more variance in PTSD symptoms than the exposure severity.

Psychiatric PRSs prospectively predicted WTC-related PTSD lifetime diagnosis, average symptom severity, and 18-year trajectory in responders to 9/11 disaster. Jointly, PRSs were more predictive of subsequent PTSD than the exposure severity. In the future, PRSs may help identify at-risk responders who might benefit from targeted prevention approaches.

This article assesses the nutritional status of Indigenous women from 14 to 49 years of age in Brazil.

Sample size was calculated for each region considering a prevalence of 50 % for all disease outcomes, a relative error of 5 % and a CI of 95 %. In the initial data analysis, the prevalence of excess weight and obesity was calculated according to independent variables. Multivariate multilevel hierarchical analyses were conducted based on a theoretical model of two ranked blocks.

The 2010 Indigenous population in Brazil was 896 000, with approximately 300 Indigenous ethnic groups, making Brazil one of the most ethnically diverse countries in the Americas and the world.

Of the total target sample of 6722 women evaluated by the National Survey, thirty did not participate, 939 were not eligible for analyses due to pregnancy or unknown pregnancy status, and thirty-nine were excluded due to missing anthropometric data.

The evaluation of nutritional status was completed for 5714 non-pregnant women (99·3 % of eligible participants for this outcome). High prevalence rates were encountered for both excess weight (46·2 %) and obesity (15·8 %) among the sampled women. In the multivariate analyses, higher socioeconomic indicators, market-integrated living conditions and less reliance on local food production, as well as increased age and parity were associated with excess weight and obesity.

Results point to distinct patterns of associations between socioeconomic indicators and the occurrence of excess weight and obesity among Indigenous women, which have potentially significant implications from a public policy perspective for Indigenous peoples in Brazil.

Sleep disturbance is common among patients with Parkinson's disease and occurs in approximately two thirds of patients.

The main objective of this study was to examine the prevalence of sleep disturbances in patients with Parkinson's disease in Romania.

To asses risk factors associated with excessive daytime sleepiness and nocturnal sleep disorders.

44 consecutive inpatients with Parkinson's disease (41% females) were included in a study of non-motor symptoms, including sleep disturbances. All participants responded to the Parkinson's Disease Sleep Scale (PDSS), where an overall score below 82 or a score below 5 on a sub-item indicate sleep disturbances. Factors associated with sleep were also investigated, with special emphasis on severity of Parkinson's disease, fatigue, mental health and restless legs syndrome (RLS).

The mean age was 67.8 years (range 35-74); the mean Hoehn and Yahr stage was 2.4 (SD 0.8), and the mean UPDRS part III was 22.6 (SD 11.5). Sleep disturbances were common among patients with Parkinson's disease. While only 17% of the sample had an overall score below 82 on the PDSS, 70% of the patients had a score below 5 on one item. There was no significant association between Parkinson's disease severity and any of the sleep items in the PDSS.

The current findings call for increased awareness of sleep problems in patients with Parkinson's disease, especially focusing on the association with mental health problems, fatigue and RLS.