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Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case-control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P=4.42 × 10-7) and PKP4 (P=8.67 × 10-7); and gene-set analysis yielded a significant finding for exocytosis (GO:0006887, PFDR=0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (rg=0.28 [P=2.99 × 10-3]), SCZ (rg=0.34 [P=4.37 × 10-5]) and MDD (rg=0.57 [P=1.04 × 10-3]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies.

Background: Pregnancy and childbirth are critical life events which lead to significant changes in family structures and roles, thus having a substantial impact on partner relationship and maternal wellbeing. A dysfunctional partnership during this critical time of life has been associated with maternal depressiveness. However, sub-components of partnership quality and the causal relation with maternal symptoms of depression in the perinatal period have been sparsely studied so far. The current study aims to longitudinally assess the course of relationship quality and its sub-components from pregnancy to postpartum and to test a potential causal association with maternal symptoms of depression in the perinatal period., Methods: Differing from previous studies, partnership quality and symptoms of depression have been assessed prospectively and longitudinally from an early stage of pregnancy (second trimester) until six months postpartum. Cross-lagged panel models were applied to investigate a potential causal relationship between partnership quality and maternal depressive symptoms., Results: Relationship quality decreased significantly during the transition to parenthood (p < .05) with the steepest decline referring to tenderness (p < .001). We also found a substantial association of relationship quality and maternal depressiveness, but no indication for a clear causal direction of this association., Conclusions: Our results suggest that relationship quality and maternal depressiveness are substantially related in the perinatal period, thus pointing to the need of early prevention and intervention programs for peripartum women and their partners to prevent adverse outcome for the couple and the family., (© 2024. The Author(s).)

Background: Maternal symptoms of anxiety and depression are highly prevalent during pregnancy and postpartum and have the potential to impact fetal development and offspring behavior. However, research on the effects of fetal exposure to maternal subclinical affective symptoms on infant self-regulation is still lacking. Self-regulation provides a fundamental precondition for healthy development and overall life success whereas dysfunctional self-regulation can lead to behavioral problems, poor academic achievement, social rejection, and physical/mental disorders. During pregnancy and infancy, children largely depend upon their mothers in order to successfully regulate their internal states. Given the high prevalence of mothers suffering from anxiety and depressive symptoms during pregnancy and after childbirth, the aim of the present study is to explore how maternal affective symptoms change during the pre- and postnatal period, and how measures obtained in pregnancy and beyond impact self-regulation in infants, as indicated by crying-, sleeping-, and/or feeding problems., Methods: This prospective longitudinal study investigates the effects of maternal symptoms of depression, anxiety, and pregnancy-specific anxiety on infant's self-regulation in N = 225 mother-infant dyads. Maternal affective symptoms were examined at five prenatal and three postnatal time-points using the Edinburgh Postnatal Depression Scale (EPDS), the State-Trait Anxiety Inventory (STAI) and the Pregnancy Related Anxiety Questionnaire Revised (PRAQ-R2). Infant's self-regulation was assessed twice - at the age of three and six months - using the Crying Feeding Sleeping Scale (SFS)., Results: Maternal pregnancy-specific anxiety was the most significant predictor for infant self-regulatory problems. It predicted crying-, sleeping, and feeding problems and explained up to 18 % of the variance. Even when controlling for maternal postpartum affective symptoms, pregnancy-specific anxiety remained a significant predictor for infant self-regulation problems., Limitations: Rather homogenous sample (high socioeconomic status). Data based on maternal reports of infant behavior., Conclusions: Our results suggest that fetal exposure to maternal affective symptoms - specifically pregnancy-related anxiety - plays a substantial role in the development of infant self-regulation problems, potentially mediated by epigenetic modifications. Importantly, even though maternal symptoms of depression and anxiety only reached subclinical levels, they were predictive for infant crying-, sleeping-, and feeding problems. Our findings underline the importance of early prevention and clearly tailored interventions during pregnancy and postpartum to prevent adverse outcome for mother, child and family., Competing Interests: Declaration of competing interest The authors have no conflicts of interest to declare., (Copyright © 2023. Published by Elsevier B.V.)

Loneliness, influenced by genetic and environmental factors such as childhood maltreatment, is one aspect of interpersonal dysfunction in Borderline Personality Disorder (BPD). Numerous studies link loneliness and BPD and twin studies indicate a genetic contribution to this association. The aim of our study was to investigate whether genetic predisposition for loneliness and BPD risk overlap and whether genetic risk for loneliness contributes to higher loneliness reported by BPD patients, using genome-wide genotype data. We assessed the genetic correlation of genome-wide association studies (GWAS) of loneliness and BPD using linkage disequilibrium score regression and tested whether a polygenic score for loneliness (loneliness-PGS) was associated with case-control status in two independent genotyped samples of BPD patients and healthy controls (HC; Witt2017-sample: 998 BPD, 1545 HC; KFO-sample: 187 BPD, 261 HC). In the KFO-sample, we examined associations of loneliness-PGS with reported loneliness, and whether the loneliness-PGS influenced the association between childhood maltreatment and loneliness. We found a genetic correlation between the GWAS of loneliness and BPD in the Witt2017-sample (rg = 0.23, p = 0.015), a positive association of loneliness-PGS with BPD case-control status (Witt2017-sample: NkR² = 2.3%, p = 2.7*10 -12 ; KFO-sample: NkR² = 6.6%, p = 4.4*10 -6 ), and a positive association between loneliness-PGS and loneliness across patient and control groups in the KFO-sample (β = 0.186, p = 0.002). The loneliness-PGS did not moderate the association between childhood maltreatment and loneliness in BPD. Our study is the first to use genome-wide genotype data to show that the genetic factors underlying variation in loneliness in the general population and the risk for BPD overlap. The loneliness-PGS was associated with reported loneliness. Further research is needed to investigate which genetic mechanisms and pathways are involved in this association and whether a genetic predisposition for loneliness contributes to BPD risk., (© 2023. The Author(s).)

Introduction Perinatal depression (PND) is a frequently observed mental disorder, showing a prevalence of up to 20% and resulting in unfavorable maternal and neonatal outcomes. Targeted screening for PND offers the potential to identify and treat undiagnosed cases and help prevent its deleterious consequences. The aim of the present study was to evaluate participants' personal attitudes and acceptance of a routine screening program for PND in pregnancy care, identify any potential underlying factors, and appraise the general perspective on perinatal mental health problems. Methods In total, 732 women in their second trimester of pregnancy took part in a PND screening program that was incorporated in routine prenatal care using the Edinburgh Postnatal Depression Scale (EPDS) and completed a web-based survey on screening acceptance. Results Participants viewed PND screening as useful (78.7%, n = 555/705), especially in terms of devoting attention to perinatal mental health problems (90.1%, n = 630/699), easy to complete (85.4%, n = 606/710), and without feelings of discomfort (88.3%, n = 628/711). Furthermore, women with previous or current mental health issues rated the usefulness of screening significantly higher, as did women with obstetric risks (p < 0.01 - p = 0.04). The final regression model explained 48.4% of the variance for screening acceptance. Conclusion Patient acceptance for PND screening was high in our study cohort, supporting the implementation of screening programs in routine pregnancy care with the potential to identify, sensitize, and treat undiagnosed patients to reduce stigmatization and offer access to tailored dedicated PND care programs., Competing Interests: Conflict of Interest The authors declare that they have no conflict of interest., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ).)

Both environmental (e.g. interpersonal traumatization during childhood and adolescence) and genetic factors may contribute to the development of Borderline Personality Disorder (BPD). Twin studies assessing borderline personality symptoms/features in the general population indicate that genetic factors underlying these symptoms/features are shared in part with the personality traits of the Five Factor Model (FFM) of personality-the "Big Five". In the present study, the genetic overlap of BPD with the Big Five -Openness to Experience, Conscientiousness, Extraversion, Agreeableness, and Neuroticism- was assessed. Linkage disequilibrium score regression was used to calculate genetic correlations between a genome-wide association study (GWAS) in central European populations on BPD (N = 2543) and GWAS on the Big Five (N = 76,551-122,886, Neuroticism N = 390,278). Polygenic scores (PGS) were calculated to test the association of the genetic disposition for the personality traits with BPD case-control status. Significant positive genetic correlations of BPD were found with Neuroticism (rg = 0.34, p = 6.3*10 -5 ) and Openness (rg = 0.24, p = 0.036), but not with the other personality traits (all | rg | <0.14, all p > 0.30). A cluster and item-level analysis showed positive genetic correlations of BPD with the Neuroticism clusters "Depressed Affect" and "Worry", and with a broad range of Neuroticism items (N = 348,219-376,352). PGS analyses confirmed the genetic correlations, and found an independent contribution of the personality traits to BPD risk. The observed associations indicate a partially shared genetic background of BPD and the personality traits Neuroticism and Openness. Larger GWAS of BPD and the "Big Five" are needed to further explore the role of personality traits in the etiology of BPD., (© 2022. The Author(s).)

Background: Postpartum depression (PPD) is a severe mental disorder that often results in poor maternal-infant attachment and negatively impacts infant development. Universal screening has recently been recommended to identify women at risk, but the optimal screening time during pregnancy has not been defined so far. Thus, web-based technologies with widespread use among women of childbearing age create new opportunities to detect pregnancies with a high risk for adverse mental health outcomes at an early stage., Objective: The aim of this study was to stratify the risk for PPD and to determine the optimal screening time during pregnancy by using a web-based screening tool collecting electronic patient-reported outcomes (ePROs) as the basis for a screening algorithm., Methods: In total, 214 women were repeatedly tested for depressive symptoms 5 times during and 3 times after pregnancy by using the Edinburgh Postnatal Depression Scale (EPDS), accessible on a web-based pregnancy platform, developed by the authors of this study. For each prenatal assessment, the area under the curve (AUC), sensitivity, specificity, and predictive values for PPD were calculated. Multivariate logistic regression analyses were applied to identify further potential predictors, such as age, education, parity, relationship quality, and anxiety, to increase predictive accuracy., Results: Digitally collected data from 214 pregnant women were analyzed. The predictive accuracy of depressive symptoms 3 and 6 months postpartum was reasonable to good regarding the screening in the second (AUC=0.85) and third (AUC=0.75) trimester. The multivariate logistic regression analyses resulted in an excellent AUC of 0.93 at 3 months and a good AUC of 0.87 at 6 months postpartum., Conclusions: The best predictive accuracy for PPD has been shown for screening between the 24th and the 28th gestational week (GW) and seems to be beneficial for identifying women at risk. In combination with the aforementioned predictive factors, the discriminatory power improved, particularly at 3 months postpartum. Screening for depression during pregnancy, combined with the women's personal risk profile, can be used as a starting point for developing a digital screening algorithm. Thereby, web-based assessment tools constitute feasible, efficient, and cost-effective approaches. Thus, they seem to be beneficial in detecting high-risk pregnancies in order to improve maternal and infant birth outcomes in the long term., (©Kathrin Haßdenteufel, Katrin Lingenfelder, Cornelia E Schwarze, Manuel Feisst, Katharina Brusniak, Lina Maria Matthies, Maren Goetz, Markus Wallwiener, Stephanie Wallwiener. Originally published in JMIR Mental Health (https://mental.jmir.org), 10.12.2021.)

Borderline personality disorder (BPD) is characterized by a pattern of intense but unstable interpersonal relationships. These interpersonal dysfunctions may originate from impaired bonding and attachment that is determined during early life. Remarkably, it has been reported that the quality of mother-infant relationship is influenced by the feeding mode. Thus, bottle feeding instead of breastfeeding and possible lack of maternal bonding-related behavior may increase the risk for later psychopathology and attachment problems as seen in BPD. A total of 100 BPD patients and 100 matched healthy controls underwent semistructured interviews, based on retrospective information about early risk factors and breastfeeding during infancy. The authors' analyses revealed that BPD patients were significantly less breastfed compared to healthy controls (no breastfeeding in BPD: 42.4%; no breastfeeding in controls: 18.2%; p < .001). The BPD diagnosis was significantly predicted by the variable "no breastfeeding" (p < .001; odds ratio [OR] = 3.32; confidence interval [CI] [1.74, 6.34]), even after adjustment for childhood trauma and several confounding factors (p = .001). The variable "no breastfeeding" accounts for 9.1% of the variance of the BPD diagnosis and is associated with low perceived maternal bonding (p = .006). Breastfeeding may act as an early indicator of the mother-infant relationship that seems to be relevant for bonding and attachment later in life.

The objective of this study was to investigate the hypothesis that borderline personality disorder (BPD) and bipolar disorder (BD) share genetic variation through analysis of known genetic risk factors for BD in a well-characterized BPD case-control cohort. Genotyping of five genome-wide significant variants identified for BD (in CACNA1C, ANK3, and ODZ4) was performed in 673 BPD cases and 748 controls. A nominally significant association with BPD was found for rs1006737 in CACNA1C (P=0.0498). Sex-specific analysis showed that this signal was present only in women. This is the first report of an association between a BD risk gene and BPD where selection was not based on a priori hypotheses about its function, but on an unbiased hypothesis-free screening of the genome. Genome-wide association data of large samples of BPD are warranted and will eventually identify new risk genes and the overlap between BPD and BD if it exists.

Despite heritability estimates of 37-69%, research has identified few genetic risk variants for borderline personality disorder (BPD). The present collaborative candidate gene study of 987 BPD cases and 1110 healthy controls found an association between BPD and single nucleotide polymorphism rs12718541 in the dopa decarboxylase gene., (Copyright © 2014. Published by Elsevier Ireland Ltd.)

Background: Patients with borderline personality disorder (BPD) show a high prevalence of early adversity, such as childhood trauma. It has also been reported that prenatal adverse conditions, such as prenatal maternal stress, drug taking, tobacco smoking or medical complications, may be associated with an increased risk of mental disorders in the offspring. Prenatal adversity is investigated here for the first time as a potential risk factor in the diagnosis of BPD. Method A total of 100 patients with a DSM-IV diagnosis of BPD and 100 matched healthy controls underwent semi-structured interviews about the course of pregnancy, maternal stressors, birth complications and childhood trauma. Further information was obtained from the participants' mothers and from prenatal medical records., Results: Borderline patients were significantly more often exposed to adverse intrauterine conditions, such as prenatal tobacco exposure (p=0.004), medical complications (p=0.008), prenatal maternal traumatic stress (p=0.015), familial conflicts (p=0.004), low social support (p=0.004) and partnership problems during pregnancy (p=0.014). Logistic regression analyses revealed that the reported prenatal risk factors accounted for 25.7% of the variance in BPD. Prenatal tobacco exposure [odds ratio (OR) 3.37, 95% confidence interval (CI) 1.49-7.65, p=0.004] and medical complications (OR 2.87, 95% CI 1.29-6.38, p=0.010) emerged as important predictors. After controlling for childhood adversity and parental socio-economic status (SES), prenatal risk factors predicted relevant borderline subdomains, such as impulsivity, affective instability, identity disturbance, dissociation and severity of borderline symptoms., Conclusions: This study provides evidence of an association between prenatal adversity and the diagnosis of BPD. Our findings suggest that prenatal adversity may constitute a potential risk factor in the pathogenesis of BPD.

Objective: Little is known regarding characteristics of subjects using substances exclusively for the purpose of pharmacological neuroenhancement (PN). Aim of this pilot study was to characterize students in Germany who use methylphenidate (MPH) and/or amphetamines (AMPH) for PN., Methods: Semi-structured interviews among 20 students who reported the use of MPH/AMPH for PN and 20 matched controls., Results: Subjects using stimulants for PN had significant better knowledge about further illicit substances for PN than controls. Users of AMPH more frequently used further illicit substances for PN than MPH users. Regarding prescription substances for PN no difference was found between MPH and AMPH users. AMPH users predominantly used AMPH intranasally for PN purposes. Stimulant users for PN used illicit substances (not for PN) more frequently with significantly higher rates of diagnoses of substance misuse of alcohol and THC (no difference between AMPH and MPH users)., Conclusions: Larger epidemiological studies are needed to elucidate the risk of misuse and addiction in subjects using stimulants for PN., (© Georg Thieme Verlag KG Stuttgart · New York.)