How etiological beliefs contribute to the structure of depression symptom networks.

OBJECTIVES: Each person possesses a unique view surrounding depressive symptomology and etiology that is shaped by idiosyncratic experiences. However, the influence that subjective etiological beliefs regarding a person's depressive symptoms have on actual symptom presentation and organization is seldom considered. METHODS: The current study employed network analytic techniques to examine how subjective views surrounding the cause of depressive symptoms altered actual symptom presentation networks. Additionally, the interaction between depressive symptoms and various etiological beliefs was examined. RESULTS: The results revealed that characterological beliefs, representing the idea that depression is caused by an internal sense of self, are strongly connected to a negative view of self, as well as a saddened mood. Additionally, the characterological beliefs node exhibited the greatest node predictability in its respective network, as well as in an omnibus network consisting of all depression symptoms and potential etiological beliefs. Whereas an achievement-based view of depression has a strong connection with concentration difficulties, a physical view of depression tends to form strong connections with physically based depressive symptoms. CONCLUSION: Subjective views regarding the cause of depression have the potential to influence symptom presentation and organization within a network, which may influence a person's willingness to engage in treatment or specific treatment preferences.

Longitudinal and experimental investigations of implicit happiness and explicit fear of happiness.

ABSTRACTSome individuals devalue positivity previously associated with negativity (Winer & Salem, 2016). Positive emotions (e.g. happiness) may be seen as threatening and result in active avoidance of future situations involving positivity. Although some self-report measures can capture emotions of happiness-averse individuals, they are not always capable of capturing automatic processing. Thus, we examined the association between implicitly-assessed happiness and explicit (i.e. self-reported) fear of happiness in three studies. In Study 1, participants completed the Fear of Happiness Scale (FHS) and an implicit measure of emotions at four-time points over approximately one year. The implicit measure required participants to choose which emotion (i.e. anger, fear, happiness, sadness, or none) best corresponded to 20 individual Chinese characters. In Studies 2 and 3, we utilized an experimental design, implementing a mood induction to emphasise the relationship between explicit fear of happiness and implicitly-assessed happiness. Participants completed the FHS and chose which emotion they believed the artist tried to convey in 20 abstract images. Results indicated that greater self-reported fear of happiness was related to reduced implicit happiness. Findings from these studies provide compound evidence that individuals who hold negative views of positivity may process implicit happiness in a devaluative manner.

Examining rumination, devaluation of positivity, and depressive symptoms via community-based network analysis.

OBJECTIVE: Components of rumination, including brooding and reflection, as well as devaluating prospective positivity, may help maintain depressive symptoms. We examined these components together for the first time using network analysis. METHODS: We examined the robustness of rumination communities of closely related items in one network and then examined the interrelationships between rumination communities, devaluation of positivity, and depression, in a second network. RESULTS: Three rumination communities emerged, replicating findings of Bernstein et al. (2019). Within a dense network, nodes representing brooding, reflective pondering, and difficulty trusting positive feelings were most influential. In addition, the node representing the depressive symptom negative self-views shared strong edges with nodes representing devaluation of positivity and brooding. CONCLUSION: Brooding, reflective pondering, and elements of devaluing positivity are influential to depressive symptoms and may be important future experimental and therapeutic targets. Depressed individuals with negative self-views may engage in brooding and devalue their experience of positivity.

Negative affect interference and fear of happiness are independently associated with depressive symptoms.

OBJECTIVES: Reward devaluation theory (RDT) posits that some depressed individuals avoid positivity due to its previous association with negative outcomes. Behavioral indicators of avoidance of reward support RDT, but self-report indicators have yet to be examined discriminantly. Two candidate self-report measures were examined in relation to depression: negative affect interference (NAI), or the experience of negative affect in response to positivity, and fear of happiness, a fear of prospective happiness. METHOD: Participants completed measures assessing NAI, fear of happiness scale, and depression online via Amazon's Mechanical Turk at three time points (N = 375). Multilevel modeling examined the relationship between NAI, fear of happiness, and depressive symptoms longitudinally. RESULTS: NAI and fear of happiness were both positively associated with depressive symptoms. They both uniquely predicted depressive symptoms when included within the same model. CONCLUSIONS: These findings suggest that different conceptualizations of positivity avoidance are uniquely associated with depressive symptoms.

Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region.

A phenotype is emerging for the proximal pair of G-dark bands in 11q (11q14.1 and q14.3) but not yet for the distal pair (11q22.1 and q22.3). A mother and daughter with the same directly transmitted 12.3-Mb interstitial deletion of 11q21q22.3 (GRCh37: 93,551,765-105,817,723) both had initial feeding difficulties and failure to thrive, speech delay, learning difficulties, and mild dysmorphism. Among 17 patients with overlapping deletions, developmental or speech delay, dysmorphism, hypotonia, intellectual disability or learning difficulties, short stature, and coloboma were each found in 2 or more. These results may provide the basis for a consistent phenotype for this region. Among the 53 deleted and additional breakpoint genes, CNTN5, YAP1, and GRI4 were the most likely candidates. Non-penetrance of haploinsufficient genes and dosage compensation among related genes may account for the normal cognition in the mother and variable phenotypes that can extend into the normal range.

Exomphalos without other prenatally detected anomalies: Perinatal outcomes from 22 years of population-based data.

OBJECTIVE: To ascertain the perinatal outcomes for an apparently isolated exomphalos detected by prenatal ultrasound. METHOD: Our dataset captures cases from 614 321 births in the Wessex region of England and the Channel Isles on all cases of pre- or postnatally diagnosed exomphalos from 1994 to 2015. Ascertainment was >95%. RESULTS: Three hundred and thirty five cases were reported to the register: 28 (8%) were not detected prenatally, 18 (6%) had already died in utero, 169 (55%) cases were found to have additional anomalies on first tertiary ultrasound scan and one case was lost to follow-up. Therefore 119 (39%) cases had an apparently isolated exomphalos. Of the 119 cases with only an exomphalos detected on first tertiary ultrasound scan, 25 (21%) had a chromosome abnormality. Of those with a normal or untested karyotype, 61% were confirmed to be an isolated anomaly after birth, 13% had an additional heart abnormality, 9% had Beckwith-Wiedemann syndrome and 11% had additional problems diagnosed postnatally. CONCLUSION: Our large population-based dataset with an average of 1 year's postnatal follow-up suggests that more than one-third of apparently isolated prenatal cases of exomphalos will have an additional finding detected after birth. These data should help assist clinicians in their prenatal counseling.

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.

The direct transmission of microscopically visible unbalanced chromosome abnormalities (UBCAs) is rare and usually has phenotypic consequences. Here we report four families in which a normal phenotype was initially found in one or more family members. Each UBCA was interpreted with regard to overlapping examples and factors previously associated with transmitted imbalances including incidental ascertainment, low gene density, benign copy number variation (CNV) content, and gene relatedness. A 4.56 Mb deletion of 8p23.1-p23.2 was thought to be causal in the affected proband but showed incomplete penetrance in her mother and sibling (Family 1). Incomplete penetrance was also associated with a 10.88 Mb duplication of 13q21.31-q22.1 (Family 3) and dosage insensitivity with a 17.6 Mb deletion of 22pter-q11.21 (Family 4) that were both ascertained at prenatal diagnosis and each found in 4 unaffected family members. The 22pter-q11.21 deletion is part of a region with high benign CNV content and supports the mapping of cat eye syndrome to a 600 kb interval of 22q11.1-q11.21. Low gene densities of less than 2.0 genes/Mb were found in each of these three families but only after segmentally duplicated genes were excluded from the deletions of 8p and 22q. In contrast, gene density was average and variable expressivity associated with a 3.59 Mb duplication of 8p23.1 incidentally ascertained for paternal infertility (Family 2). Our results indicate that a greater degree of direct parental transmission, incomplete penetrance, and variable expression are features of both sub-microscopic CNVs and UBCAs with relatively low gene and high benign CNV content.

Population representation among anatomical donors and the implication for medical student education.

Dissection provides a unique opportunity to integrate anatomical and clinical education. Commonly, cadavers are randomly assigned to courses, which may result in skewed representation of patient populations. The primary aim of this study was to determine if the anatomical donors studied by students at the University of Massachusetts Medical School (UMMS) accurately represent the disease burden of the local patient population. This cross-sectional study compared the University of Massachusetts Memorial Medical Center patient claims data and body donation data from the UMMS Anatomical Gift Program (AGP). This study examined age, race, sex, and morbidities within a 10-year timeframe in 401,258 patients and 859 anatomical donors who met inclusion criteria. An independent t test was conducted to compare the mean ages of the two populations. Chi square analysis was conducted on race, sex, and 10 morbidity categories. A Fischer's exact test was conducted for two morbidity categories with n < 10. Demographic analysis showed a significant difference in age, and racial representation between the populations. No statistical difference was found regarding sex. Morbidities were separated into 22 ICD-10 categories. Twelve categories were excluded and 10 were analyzed for population comparison. Two categories were over represented and seven were under-represented in the AGP population. One category showed no significant difference between populations. Targeted selection of cadavers in anatomy courses would improve morbidity variability in the anatomy lab. In addition, AGP acceptance guidelines should be evaluated to increase disease variation among the donor population. Clin. Anat. 31:250-258, 2018. © 2017 Wiley Periodicals, Inc.

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.

We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalized counseling on transmission risk to future offspring. Using dideoxy sequencing, a low-level FLNB c.698A>G, encoding p.(Tyr233Cys) mutation was detected in buccal mucosa and fibroblast DNA. Mutation quantification was performed by deep next-generation sequencing (NGS) of DNA extracted from three somatic tissues (blood, fibroblasts, saliva) and a sperm sample. The mutation was detectable in all tissues tested, at levels ranging from 7% to 10% (mutation present in ∼20% of diploid somatic cells and 7% of haploid sperm), demonstrating the involvement of both somatic and gonadal lineages in this patient. This report illustrates the clinical utility of performing targeted NGS analysis on sperm from males with a mosaic condition in order to provide personalized transmission risk and offer evidence-based counseling on reproductive safety.

The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services.

INTRODUCTION: It is frequent for news items to lead to a short lived temporary increase in interest in a particular health related service, however it is rare for this to have a long lasting effect. In 2013, in the UK in particular, there has been unprecedented publicity in hereditary breast cancer, with Angelina Jolie's decision to have genetic testing for the BRCA1 gene and subsequently undergo risk reducing mastectomy (RRM), and a pre-release of the NICE guidelines on familial breast cancer in January and their final release on 26th June. The release of NICE guidelines created a lot of publicity over the potential for use of chemoprevention using tamoxifen or raloxifene. However, the longest lasting news story was the release of details of film actress Angelina Jolie's genetic test and surgery. METHODS: To assess the potential effects of the 'Angelina Jolie' effect, referral data specific to breast cancer family history was obtained from around the UK for the years 2012 and 2013. A consortium of over 30 breast cancer family history clinics that have contributed to two research studies on early breast surveillance were asked to participate as well as 10 genetics centres. Monthly referrals to each service were collated and increases from 2012 to 2013 assessed. RESULTS: Data from 12 family history clinics and 9 regional genetics services showed a rise in referrals from May 2013 onwards. Referrals were nearly 2.5 fold in June and July 2013 from 1,981 (2012) to 4,847 (2013) and remained at around two-fold to October 2013. Demand for BRCA1/2 testing almost doubled and there were also many more enquiries for risk reducing mastectomy. Internal review shows that there was no increase in inappropriate referrals. CONCLUSIONS: The Angelina Jolie effect has been long lasting and global, and appears to have increased referrals to centres appropriately.

Predicting Individual Response to a Web-Based Positive Psychology Intervention: A Machine Learning Approach.

Positive psychology interventions (PPIs) are effective at increasing happiness and decreasing depressive symptoms. PPIs are often administered as self-guided web-based interventions, but not all persons benefit from web-based interventions. Therefore, it is important to identify whether someone is likely to benefit from web-based PPIs, in order to triage persons who may not benefit from other interventions. In the current study, we used machine learning to predict individual response to a web-based PPI, in order to investigate baseline prognostic indicators of likelihood of response (N = 120). Our models demonstrated moderate correlations (happiness: r Test = 0.30 ± 0.09; depressive symptoms: r Test = 0.39 ± 0.06), indicating that baseline features can predict changes in happiness and depressive symptoms at a 6-month follow-up. Thus, machine learning can be used to predict outcome changes from a web-based PPI and has important clinical implications for matching individuals to PPIs based on their individual characteristics.

Assessing relinquishment of positivity as a central symptom bridging anxiety and depression.

Anxiety and depression are often comorbid and chronic disorders. Previous research indicates that positivity relinquishment is a moderator of anxiety and depression, such that only anxious individuals who endorsed relinquishing positivity were also depressed. We sought to extend those findings by conducting three network analyses with self-report measures of anxiety, depression, activity avoidance, and perceived positivity of avoided activities (N = 104). We pre-registered our hypothesis for the first two networks that relinquishment of positivity would emerge as a central bridge symptom between anxiety and depressive symptoms. After combining redundant nodes, we estimated three networks and investigated the bridge symptoms in each network. Relinquishment of positivity bridged the symptom clusters in the first network, and avoidance of positivity was found to bridge the two symptom clusters of anxiety and depression in networks two and three. Additionally, an anhedonia circuit was uncovered in all three networks in which loss of interest/worthlessness, loss of energy, and loss of pleasure/pessimism connected to anxiety through relinquishment or avoidance. Our findings suggest that both relinquishment of positivity as well as avoidance of positivity could be potential pathways explaining the development and maintenance of anxiety and depression and should be properly targeted in treatment.

Detecting major depressive disorder presence using passively-collected wearable movement data in a nationally-representative sample.

Major Depressive Disorder (MDD) is a heterogeneous disorder, resulting in challenges with early detection. However, changes in sleep and movement patterns may help improve detection. Thus, this study aimed to explore the utility of wrist-worn actigraphy data in combination with machine learning (ML) and deep learning techniques to detect MDD using a commonly used screening method: Patient Health Questionnaire-9 (PHQ-9). Participants (N = 8,378; MDD Screening = 766 participants) completed the and wore Actigraph GT3X+ for one week as part of the National Health and Nutrition Examination Survey (NHANES). Leveraging minute-level, actigraphy data, we evaluated the efficacy of two commonly used ML approaches and identified actigraphy-derived biomarkers indicative of MDD. We employed two ML modeling strategies: (1) a traditional ML approach with theory-driven feature derivation, and (2) a deep learning Convolutional Neural Network (CNN) approach, coupled with gramian angular field transformation. Findings revealed movement-related features to be the most influential in the traditional ML approach and nighttime movement to be the most influential in the CNN approach for detecting MDD. Using a large, nationally-representative sample, this study highlights the potential of using passively-collected, actigraphy data for understanding MDD to better improve diagnosing and treating MDD.

Disability severity and risk of new or recurrent intimate partner violence - Evidence from a cohort study in rural Pakistan.

BACKGROUND: People with disabilities are more likely to experience intimate partner violence (IPV) than those without. Most research examining the relationship between disability and IPV, however, is cross-sectional and approaches disability as a binary variable. This relationship is also important to consider in a South Asian context, where it may be affected by cultural norms surrounding IPV, and resources for people with disabilities. OBJECTIVE: To estimate the degree to which disability severity increases the risk of subsequent IPV among a cohort of mothers living in rural Pakistan. METHODS: Mothers from the Bachpan study (N = 869) with data for at least two consecutive waves between 1-, 2-, 3-, and 6-years postpartum were included in this study. Modified Poisson regression models were used to estimate the relationship between disability level in the preceding wave and psychological, physical, and sexual IPV in the following wave. RESULTS: For psychological IPV, the risk ratio (RR) for medium severity was 1.27 (95 % CI: 1.10, 1.46) and the RR for high severity was 1.23 (95 % CI: 1.02, 1.48), relative to low severity. Physical IPV had a medium severity RR of 1.44 (95 % CI: 1.00, 2.06) and high severity RR of 1.60 (95 % CI: 1.02, 2.53). For sexual IPV, the medium severity RR was 1.35 (95 % CI: 1.05, 1.75) and the high severity RR was 1.53 (95 % CI: 1.11, 2.10). CONCLUSIONS: This study supports that, in a low-income, rural South Asian context, mothers with disabilities are particularly susceptible to future psychological, physical, and sexual IPV.

Trauma exposure among young children in rural Pakistan: Associations with gender, mental health, and cognitive skills.

BACKGROUND: The burden of childhood trauma (violence, injury/illness, loss) in low-resource settings is high, although the effect of trauma on children's mental and cognitive health is under-researched. Child gender may moderate the association between trauma and outcomes; boys are more likely to experience trauma, but girls are more likely to show distress following trauma. METHODS: We draw on data from the Bachpan cohort (n = 888), a sample of mother-child dyads in rural Pakistan, to investigate these associations among 6-year-old children in a South Asian, low-resource setting. Mothers reported on children's lifetime exposure to 15 possible traumas and their current mental health. In addition, children were assessed for their verbal skills, working memory, and inhibitory control. We estimated trauma prevalence and used generalized estimating equations to test the association between number of traumatic events and child mental health and cognitive skills in the overall sample and by gender. RESULTS: 90.5% of children experienced at least one trauma. The most common traumas were death of a loved one (47%) and hearing about war/terrorism on the TV/radio (48%). On average, boys experienced more traumas (M = 3.00) than girls (M = 2.67). Specifically, boys were more likely than girls to experience an injury or hospitalization (30% vs. 21%, p < .05) and to hear about war/terrorism on the TV/radio (52% vs. 43%, p < .05). Trauma was associated with increased mental health difficulties and increased anxiety scores. There was little evidence that trauma exposure was associated with child cognitive skills. The strength of association between trauma and outcomes was similar for boys and girls. CONCLUSIONS: Findings show that childhood trauma exposure is common in this setting and associated with worse mental health problems among young boys and girls. Results suggest that trauma-informed interventions are important for supporting child mental health in South Asia.

MoodCapture: Depression Detection Using In-the-Wild Smartphone Images.

MoodCapture presents a novel approach that assesses depression based on images automatically captured from the front-facing camera of smartphones as people go about their daily lives. We collect over 125,000 photos in the wild from N=177 participants diagnosed with major depressive disorder for 90 days. Images are captured naturalistically while participants respond to the PHQ-8 depression survey question: "I have felt down, depressed, or hopeless". Our analysis explores important image attributes, such as angle, dominant colors, location, objects, and lighting. We show that a random forest trained with face landmarks can classify samples as depressed or non-depressed and predict raw PHQ-8 scores effectively. Our post-hoc analysis provides several insights through an ablation study, feature importance analysis, and bias assessment. Importantly, we evaluate user concerns about using MoodCapture to detect depression based on sharing photos, providing critical insights into privacy concerns that inform the future design of in-the-wild image-based mental health assessment tools.

The role of borderline personality disorder traits in predicting longitudinal variability of major depressive symptoms among a sample of depressed adults.

BACKGROUND: Major depressive disorder (MDD) and borderline personality disorder (BPD) often co-occur, with 20 % of adults with MDD meeting criteria for BPD. While MDD is typically diagnosed by symptoms persisting for several weeks, research suggests a dynamic pattern of symptom changes occurring over shorter durations. Given the diagnostic focus on affective states in MDD and BPD, with BPD characterized by instability, we expected heightened instability of MDD symptoms among depressed adults with BPD traits. The current study examined whether BPD symptoms predicted instability in depression symptoms, measured by ecological momentary assessments (EMAs). METHODS: The sample included 207 adults with MDD (76 % White, 82 % women) recruited from across the United States. At the start of the study, participants completed a battery of mental health screens including BPD severity and neuroticism. Participants completed EMAs tracking their depression symptoms three times a day over a 90-day period. RESULTS: Using self-report scores assessing borderline personality disorder (BPD) traits along with neuroticism scores and sociodemographic data, Bayesian and frequentist linear regression models consistently indicated that BPD severity was not associated with depression symptom change through time. LIMITATIONS: Diagnostic sensitivity and specificity may be restricted by use of a self-report screening tool for capturing BPD severity. Additionally, this clinical sample of depressed adults lacks a comparison group to determine whether subclinical depressive symptoms present differently among individuals with BPD only. CONCLUSIONS: The unexpected findings shed light on the interplay between these disorders, emphasizing the need for further research to understand their association.

Depressive symptoms as a heterogeneous and constantly evolving dynamical system: Idiographic depressive symptom networks of rapid symptom changes among persons with major depressive disorder.

Major depressive disorder (MDD) is conceptualized by individual symptoms occurring most of the day for at least two weeks. Despite this operationalization, MDD is highly variable with persons showing greater variation within and across days. Moreover, MDD is highly heterogeneous, varying considerably across people in both function and form. Recent efforts have examined MDD heterogeneity byinvestigating how symptoms influence one another over time across individuals in a system; however, these efforts have assumed that symptom dynamics are static and do not dynamically change over time. Nevertheless, it is possible that individual MDD system dynamics change continuously across time. Participants (N = 105) completed ratings of MDD symptoms three times a day for 90 days, and we conducted time varying vector autoregressive models to investigate the idiographic symptom networks. We then illustrated this finding with a case series of five persons with MDD. Supporting prior research, results indicate there is high heterogeneity across persons as individual network composition is unique from person to person. In addition, for most persons, individual symptom networks change dramatically across the 90 days, as evidenced by 86% of individuals experiencing at least one change in their most influential symptom and the median number of shifts being 3 over the 90 days. Additionally, most individuals had at least one symptom that acted as both the most and least influential symptom at any given point over the 90-day period. Our findings offer further insight into short-term symptom dynamics, suggesting that MDD is heterogeneous both across and within persons over time. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

From mood to use: Using ecological momentary assessments to examine how anhedonia and depressed mood impact cannabis use in a depressed sample.

Anhedonia and depressed mood are two cardinal symptoms of major depressive disorder (MDD). Prior work has demonstrated that cannabis consumers often endorse anhedonia and depressed mood, which may contribute to greater cannabis use (CU) over time. However, it is unclear (1) how the unique influence of anhedonia and depressed mood affect CU and (2) how these symptoms predict CU over more proximal periods of time, including the next day or week (rather than proceeding weeks or months). The current study used data collected from ecological momentary assessment (EMA) in a sample with MDD (N = 55) and employed mixed effects models to detect and predict weekly and daily CU from anhedonia and depressed mood over 90 days. Results indicated that anhedonia and depressed mood were significantly associated with CU, yet varied at daily and weekly scales. Moreover, these associations varied in both strength and directionality. In weekly models, less anhedonia and greater depressed mood were associated with greater CU, and directionality of associations were reversed in the models looking at any CU (compared to none). Findings provide evidence that anhedonia and depressed mood demonstrate complex associations with CU and emphasize leveraging EMA-based studies to understand these associations with more fine-grained detail.

A network analytic investigation of avoidance, dampening, and devaluation of positivity.

BACKGROUND AND OBJECTIVES: Reward Devaluation Theory suggests that devaluation of positivity may be integral in understanding depression (Winer & Salem, 2016). Specifically, the anticipatory (e.g., fear of happiness) and responsive (e.g., dampening) behaviors related to the processing of positivity may play a role in the development and maintenance of depression. METHODS: The goal of this study was to examine the potential overlap between measures that operationalize positivity avoidance, two Fear of Happiness Scales (Gilbert et al., 2012; Joshanloo, 2013), as well as positivity dampening, measured via the dampening subscale of the Responses to Positive Affect Questionnaire (Feldman et al., 2008). Network and community analyses were employed to examine the extent to which the items of these measures clustered into their parent measures and investigate the dynamic interactions between items. RESULTS: The results of the community analysis revealed that the three self-report measures overall clustered into their parent measures, except for the Gilbert et al. (2012) Fear of Happiness Scale, which clustered into two separate communities. The most influential nodes represented the concept that good feelings are often followed by negative outcomes. Additionally, nodes related to the theme of fear of letting oneself become happy emerged as the strongest bridge nodes. LIMITATIONS: One limitation of this study is the use of a cross-sectional design; thus, causality cannot be inferred, but the results can guide future longitudinal network designs. CONCLUSIONS: These findings demonstrate how anticipatory avoidance and responsive dampening may influence depression, thus providing evidence for unique targets for treatment.