Publications by authors named "Rose Mary Xavier"

Substance use disorders (SUDs) are complex brain disorders with heritability rooted in the interplay of multiple genetic factors, alongside significant environmental influences. Gaining insights into the genetic mechanisms that heighten SUD risk can guide precision care, specifically in the development of targeted tools for prevention, early intervention, and the discovery of therapeutic targets. Nurses are ideally placed to advance genomics-informed precision care for individuals with SUDs.

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Mental illness definitions and classifications are to a certain extent intrinsically tied to social factors. To empirically examine the impact of sociodemographic factors on patients institutionalized with dementia praecox in the early 20 century, we examined records from Dorothea Dix Hospital (DDH), an asylum in Southeastern United States. Data was extracted from digitally archived handwritten admission ledgers and general casebooks.

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Background: Glycerol-3-phosphate acyltransferase (GPAT) activity is correlated with obesity and insulin resistance in mice and humans. However, insulin resistance exists in people with normal body weight, and individuals with obesity may be metabolically healthy, implying the presence of complex pathophysiologic mechanisms underpinning insulin resistance.

Objective: We asked what conditions related to GPAT1 must be met concurrently for hepatic insulin resistance to occur.

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Advances in genetics has led to a better understanding of both genetic and environmental contributions to psychiatric mental health disorders. But psychiatric genetics research is predominantly Eurocentric, and individuals of non-European ancestry continue to be significantly underrepresented in research studies with potential to worsen existing mental health disparities. The objective of this study was to examine factors associated with genetic study participation in a schizophrenia sample.

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Background: It remains unknown why ~30% of patients with psychotic disorders fail to respond to treatment. Previous genomic investigations of treatment-resistant psychosis have been inconclusive, but some evidence suggests a possible link between rare disease-associated copy number variants (CNVs) and worse clinical outcomes in schizophrenia. Here, we identified schizophrenia-associated CNVs in patients with treatment-resistant psychotic symptoms and then compared the prevalence of these CNVs to previously published schizophrenia cases not selected for treatment resistance.

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Evidence shows that reports of psychopathology symptoms by youth and their caregiver informants differ. To quantify youth-caregiver discrepancies in psychopathology symptoms and factors associated with such discrepancies, we investigated differences in how youth and their caregivers rated psychopathology symptoms. The sample (N = 5094) was extracted from the Philadelphia Neurodevelopmental Cohort, a community-based sample of youth and included participants ages 11-17 years old with both youth and caregiver reported symptom scores.

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Background: Youth mental health disorders are strong predictors of adult mental health disorders. Early identification of mental health disorders in youth is important as it could aid early intervention and prevention. In a disorder agnostic manner, we aimed to identify influential psychopathology symptoms that could impact mental health in youth.

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Accurate diagnosis and appropriate treatment of tardive dyskinesia (TD) are imperative, as its symptoms can be highly disruptive to both patients and their caregivers. Misdiagnosis can lead to incorrect interventions with suboptimal or even deleterious results. To aid in the identification and differentiation of TD in the psychiatric practice setting, we review its clinical features and movement phenomenology, as well as those of other antipsychotic-induced movement disorders, with accompanying links to illustrative videos.

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Little is known about the impact of family history of psychosis on youth from community samples. To fill this gap, we compared youth with a first-degree relative with psychosis spectrum symptoms (i.e.

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Antipsychotics can be life changing, but like all medications, they can also have unwanted effects, including drug-induced movement disorders such as tardive dyskinesia (TD). More patients are receiving antipsychotic treatment from non-psychiatry health care providers, including primary care and general practitioners. Despite misconceptions to the contrary, recent analyses suggest that the risk of drug-induced movement disorders such as TD has not been eliminated.

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Genetic etiology of psychopathology symptoms and cognitive performance in schizophrenia is supported by candidate gene and polygenic risk score (PRS) association studies. Such associations are reported to be dependent on several factors - sample characteristics, illness phase, illness severity etc. We aimed to examine if schizophrenia PRS predicted psychopathology symptoms and cognitive performance in patients with chronic schizophrenia.

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Unlabelled: Insight in schizophrenia is clinically important as it is associated with several adverse outcomes. Genetic contributions to insight are unknown. We examined genetic contributions to insight by investigating if polygenic risk scores (PRS) and candidate regions were associated with insight.

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Introduction: Insight in schizophrenia is long known to have a complex relationship with psychopathology symptoms and cognition. However, very few studies have examined models that explain these interrelationships.

Methods: In a large sample derived from the NIMH Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) schizophrenia trial (N=1391), we interrogated these interrelationships for potential causal pathways using structural equation modeling.

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Schizophrenia is a highly heritable disorder, the genetic etiology of which has been well established. Yet despite significant advances in genetics research, the pathophysiological mechanisms of this disorder largely remain unknown. This gap has been attributed to the complexity of the polygenic disorder, which has a heterogeneous clinical profile.

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Background: Insight in schizophrenia is defined as awareness into illness, symptoms, and need for treatment and has long been associated with cognition, other psychopathological symptoms, and several adverse clinical and functional outcomes. However, the biological basis of insight is not clearly understood.

Objective: The aim of this systematic review was to critically evaluate and summarize advances in the study of the biological basis of insight in schizophrenia and to identify gaps in this knowledge.

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