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Orphanet Journal of Rare Diseases Feb 2024Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder resulting from absent paternal expression of maternally imprinted genes at chromosomal... (Review)
Review
BACKGROUND
Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder resulting from absent paternal expression of maternally imprinted genes at chromosomal locus 15q11-13. This absence of expression occurs as a consequence of a deletion on the chromosome 15 of paternal origin (ca. 70%), a chromosome 15 maternal uniparental disomy (mUPD; ca. 25%), or an imprinting centre defect (IC; ca. 1-3%). At birth, individuals with PWS are severely hypotonic and fail to thrive. Hyperphagia and characteristic physical and neuropsychiatric phenotypes become apparent during childhood. The risk for the development of a co-morbid psychotic illness increases during the teenage years, specifically in those with PWS due to the presence of an mUPD. The primary aim of this literature review is to inform clinical practice. To achieve this, we have undertaken a systematic analysis of the clinical research literature on prevalence, presentation, course, characteristics, diagnosis and treatment of psychotic illness in people with PWS. The secondary aim is to identify clinical aspects of psychotic illness in PWS in need of further investigation.
METHODS AND FINDINGS
A systematic literature review on psychosis in PWS was conducted on the databases Web of Knowledge, PubMed and Scopus, using the terms "((Prader-Willi syndrome) OR (Prader Willi Syndrome)) AND ((psychosis) OR (psychotic illness))". All articles written in English and reporting original human research were reviewed. In all but three of the 16 cohort studies in which the genetic types were known, the authors reported higher rates of psychosis in people with PWS resulting from an mUPD, compared to those with the deletion subtype of PWS. When psychosis was present the presentation was psychosis similar regardless of genetic type and was usually characterised by an acute onset of hallucinations and delusions accompanied by confusion, anxiety and motor symptoms.
CONCLUSIONS
The onset of confusion, an affective cyclical pattern with the presence of abnormal mental beliefs and experiences, usually of rapid onset is suggestive of the development of psychotic illness. Phenomenologically, this psychosis in people with PWS is atypical in comparison to schizophrenia and bipolar disorder in the general population. The relationship to psychosis in the general population and the optimum treatments remain uncertain.
Topics: Adolescent; Infant, Newborn; Humans; Prader-Willi Syndrome; Psychotic Disorders; Comorbidity; Family; Anxiety; Chromosomes, Human, Pair 15
PubMed: 38360662
DOI: 10.1186/s13023-024-03026-y -
Schizophrenia Research May 2018There is growing recognition of the relationship between trauma, posttraumatic stress disorder (PTSD) and psychosis. There may be overlaps in causal mechanisms involved... (Meta-Analysis)
Meta-Analysis Review
There is growing recognition of the relationship between trauma, posttraumatic stress disorder (PTSD) and psychosis. There may be overlaps in causal mechanisms involved in the development of PTSD and psychosis following traumatic or adverse events. Trauma-focussed treatments found to be effective in treating PTSD may therefore represent a new direction in the psychological treatment of psychosis. This systematic review examined the literature on trauma-focussed treatments conducted with people with schizophrenia spectrum or psychotic disorders to determine effects on psychotic symptoms. Secondary outcomes were symptoms of PTSD, depression and anxiety. Twenty-five studies were included in the review, with 12 being included in the meta-analysis. Trauma-focussed treatments had a small, significant effect (g=0.31, CI [0.55, 0.06]) on positive symptoms immediately post-treatment, but the significance and magnitude of this effect was not maintained at follow-up (g=0.18, CI [0.42, -0.06]). Trauma-focussed treatments also had a small effect on delusions at both post-treatment (g=0.37, CI [0.87, -0.12]) and follow-up (g=0.38, CI [0.67, 0.10]), but this only reached significance at follow-up. Effects on hallucinations and negative symptoms were small and non-significant. Effects on PTSD symptoms were also small (post-treatment g=0.21, CI [0.70, -0.27], follow up g=0.31, CI [0.62, 0.00]) and only met significance at follow-up. No significant effects were found on symptoms of depression and anxiety. Results show promising effects of trauma-focussed treatments for the positive symptoms of psychosis, however further studies developing and evaluating trauma-focussed treatments for trauma-related psychotic symptoms are needed.
Topics: Humans; Psychotherapy; Psychotic Disorders; Schizophrenia; Stress Disorders, Post-Traumatic
PubMed: 28844432
DOI: 10.1016/j.schres.2017.08.037 -
Psychological Medicine 2015Evidence suggests that childhood adversity is associated with the development of psychotic experiences (PE), psychotic symptoms and disorders. However, less is known... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Evidence suggests that childhood adversity is associated with the development of psychotic experiences (PE), psychotic symptoms and disorders. However, less is known regarding the impact of early adversity on the persistence of PE and clinically relevant psychosis. Thus we conducted a systematic review of the association between childhood adversity and the course of PE and symptoms over time.
METHOD
A systematic search of Medline, EMBASE and PsychINFO databases was undertaken to identify articles published between January 1956 and November 2014. We included studies conducted on general population samples, individuals at ultra-high risk (UHR) of psychosis, and patients with full-blown psychotic disorders. A meta-analysis was performed on a subgroup.
RESULTS
A total of 20 studies were included. Of these, 17 reported positive associations between exposure to overall or specific subtypes of childhood adversity and persistence of PE or clinically relevant psychotic symptoms. A meta-analysis of nine studies yielded a weighted odds ratio of 1.76 [95% confidence interval (CI) 1.19-2.32, p < 0.001] for general population studies and 1.55 (95% CI 0.32-2.77, p = 0.007) for studies conducted using clinical populations.
CONCLUSIONS
The available evidence is limited but tentatively suggests that reported exposure to adverse events in childhood is associated with persistence of PE and clinically relevant psychotic symptoms. This partially strengthens the case for addressing the consequences of early adversity in individuals presenting with psychotic phenomena to improve long-term outcomes. However, the heterogeneity of studies was high which urges caution in interpreting the results and highlights the need for more methodologically robust studies.
Topics: Adolescent; Adult; Adult Survivors of Child Abuse; Bullying; Child; Child Abuse; Child, Preschool; Humans; Middle Aged; Psychotic Disorders; Regression Analysis; Risk Factors; Substance-Related Disorders; Young Adult
PubMed: 25903153
DOI: 10.1017/S0033291715000574 -
Schizophrenia Research Jun 2024Although uncommon, the risk of aggression and violence is greater in people with schizophrenia than in the general population. Clozapine is the "gold standard"... (Review)
Review
Although uncommon, the risk of aggression and violence is greater in people with schizophrenia than in the general population. Clozapine is the "gold standard" pharmacologic treatment for the management of persistent agitation and aggression in people with schizophrenia and is consistently recommended by guidelines and reviews for this purpose. Although clozapine is indicated for treatment-resistant schizophrenia based on its superior efficacy, studies have proposed that clozapine may have specific properties that ameliorate aggression and hostility that are distinct from its antipsychotic effects. A literature review was conducted on June 3, 2023, using the US National Library of Medicine's PubMed resource to identify articles focusing on clozapine for the treatment of aggression, violence, and/or hostility in patients with schizophrenia or schizoaffective disorder. The majority of evidence, including from randomized control trials, supports the utilization of clozapine as maintenance treatment for persistent aggressive behavior in patients with schizophrenia, and supports that its anti-aggressive effects may be independent from its antipsychotic properties (e.g. - treatment of hallucinations and delusions). Future randomized control studies evaluating clozapine and clozapine serum levels with aggression as the primary outcome would be of benefit.
Topics: Humans; Clozapine; Aggression; Psychotic Disorders; Schizophrenia; Violence; Antipsychotic Agents
PubMed: 38290941
DOI: 10.1016/j.schres.2023.11.008 -
Psychological Medicine Oct 2022Schizophrenia (SZ) is a complex brain disorder linked to cognitive and neurostructural abnormalities that involves genetic and environmental factors with obstetric... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Schizophrenia (SZ) is a complex brain disorder linked to cognitive and neurostructural abnormalities that involves genetic and environmental factors with obstetric complications (OCs) at birth conferring a high risk for the disease. Indeed, current research in the general population describes the deleterious effect of OCs on cognitive performance in adulthood. With this rationale, we aim to review the relationship between OCs and cognition in SZ and related psychotic disorders.
METHODS
A systematic review and meta-analysis describing cognitive function and OCs in patients with SZ and related disorders were conducted. PubMed, EmBase, SCOPUS, and the Cochrane Library were systematically searched to identify eligible studies up to January 2022. We calculated the effect sizes (Hedges' g) of cognitive domains within each study and quantified the proportion of between-study variability using the statistic. Homogeneity was assessed using the -statistic (). The study was registered on PROSPERO (CRD42018094238).
RESULTS
A total of 4124 studies were retrieved, with 10 studies meeting inclusion criteria for the systematic review and eight for meta-analysis. SZ subjects with OCs showed poor verbal memory [Hedges' = -0.89 (95% CI -1.41 to -0.37), < 0.001] and working memory performance [Hedges' = -1.47 (95% CI -2.89 to -0.06), = 0.01] in a random-effect model compared to those without OCs.
CONCLUSIONS
OCs appear to have a moderate impact on specific cognitive such as working memory and verbal memory. Our findings suggest that OCs are associated with brain development and might underlie the cognitive abnormalities described at onset of psychosis.
Topics: Infant, Newborn; Humans; Adult; Schizophrenia; Cognition; Psychotic Disorders; Memory, Short-Term; Brain Diseases; Memory Disorders
PubMed: 35979824
DOI: 10.1017/S0033291722002409 -
Psychological Medicine Jun 2013The psychosis-proneness-persistence-impairment model of psychotic disorder incorporates notions of both phenomenological and temporal continuity (persistence) of... (Meta-Analysis)
Meta-Analysis Review
An updated and conservative systematic review and meta-analysis of epidemiological evidence on psychotic experiences in children and adults: on the pathway from proneness to persistence to dimensional expression across mental disorders.
BACKGROUND
The psychosis-proneness-persistence-impairment model of psychotic disorder incorporates notions of both phenomenological and temporal continuity (persistence) of psychotic experiences (PE), but not structural continuity. Specific testable propositions of phenomenological continuity and persistence are identified. Method Propositions are tested by systematic reviews of the epidemiology of PE, persistence of PE and disorder outcomes, and meta-analyses (including Monte Carlo permutation sampling, MCPS) of reported rates and odds ratios (ORs).
RESULTS
Estimates of the incidence and prevalence of PE obtained from 61 cohorts revealed a median annual incidence of 2.5% and a prevalence of 7.2%. Meta-analysis of risk factors identified age, minority or migrant status, income, education, employment, marital status, alcohol use, cannabis use, stress, urbanicity and family history of mental illness as important predictors of PE. The mode of assessment accounted for significant variance in the observed rates. Across cohorts, the probability of persistence was very strongly related to the rate of PE at baseline. Of those who report PE, ∼20% go on to experience persistent PE whereas for ∼80%, PE remit over time. Of those with baseline PE, 7.4% develop a psychotic disorder outcome.
CONCLUSIONS
Compelling support is found for the phenomenological and temporal continuity between PE and psychotic disorder and for the fundamental proposition that this relationship is probabilistic. However, imprecision in epidemiological research design, measurement limitations and the epiphenomenological nature of PE invite further robust scrutiny of the continuity theory.
Topics: Age Factors; Cohort Studies; Delusions; Employment; Female; Hallucinations; Humans; Male; Marital Status; Minority Groups; Monte Carlo Method; Psychotic Disorders; Risk Factors; Socioeconomic Factors; Substance-Related Disorders; Urban Population
PubMed: 22850401
DOI: 10.1017/S0033291712001626 -
Psychological Medicine Oct 2022Psychotic symptoms, that we defined as delusions or hallucinations, are common in bipolar disorders (BD). This systematic review and meta-analysis aims to synthesise the... (Meta-Analysis)
Meta-Analysis Review
Psychotic symptoms, that we defined as delusions or hallucinations, are common in bipolar disorders (BD). This systematic review and meta-analysis aims to synthesise the literature on both lifetime and point prevalence rates of psychotic symptoms across different BD subtypes, including both BD type I (BDI) and BD type II (BDII). We performed a systematic search of Medline, PsycINFO, Embase and Cochrane Library until 5 August 2021. Fifty-four studies ( = 23 461) of adults with BD met the predefined inclusion criteria for evaluating lifetime prevalence, and 24 studies ( = 6480) for evaluating point prevalence. Quality assessment and assessment of publication bias were performed. Prevalence rates were calculated using random effects meta-analysis, here expressed as percentages with a 95% confidence interval (CI). In studies of at least moderate quality, the pooled lifetime prevalence of psychotic symptoms in BDI was 63% (95% CI 57.5-68) and 22% (95% CI 14-33) in BDII. For BDI inpatients, the pooled lifetime prevalence was 71% (95% CI 61-79). There were no studies of community samples or inpatient BDII. The pooled point prevalence of psychotic symptoms in BDI was 54% (95 CI 41-67). The point prevalence was 57% (95% CI 47-66) in manic episodes and 13% (95% CI 7-23.5) in depressive episodes. There were not enough studies in BDII, BDI depression, mixed episodes and outpatient BDI. The pooled prevalence of psychotic symptoms in BDI may be higher than previously reported. More studies are needed for depressive and mixed episodes and community samples.Prospero registration number: CRD 42017052706.
Topics: Adult; Humans; Bipolar Disorder; Prevalence; Psychotic Disorders; Hallucinations; Mania
PubMed: 36016504
DOI: 10.1017/S003329172200201X -
Journal of Medical Internet Research Sep 2022Schizophrenia is a disease associated with high burden, and improvement in care is necessary. Artificial intelligence (AI) has been used to diagnose several medical... (Review)
Review
BACKGROUND
Schizophrenia is a disease associated with high burden, and improvement in care is necessary. Artificial intelligence (AI) has been used to diagnose several medical conditions as well as psychiatric disorders. However, this technology requires large amounts of data to be efficient. Social media data could be used to improve diagnostic capabilities.
OBJECTIVE
The objective of our study is to analyze the current capabilities of AI to use social media data as a diagnostic tool for psychotic disorders.
METHODS
A systematic review of the literature was conducted using several databases (PubMed, Embase, Cochrane, PsycInfo, and IEEE Xplore) using relevant keywords to search for articles published as of November 12, 2021. We used the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) criteria to identify, select, and critically assess the quality of the relevant studies while minimizing bias. We critically analyzed the methodology of the studies to detect any bias and presented the results.
RESULTS
Among the 93 studies identified, 7 studies were included for analyses. The included studies presented encouraging results. Social media data could be used in several ways to care for patients with schizophrenia, including the monitoring of patients after the first episode of psychosis. We identified several limitations in the included studies, mainly lack of access to clinical diagnostic data, small sample size, and heterogeneity in study quality. We recommend using state-of-the-art natural language processing neural networks, called language models, to model social media activity. Combined with the synthetic minority oversampling technique, language models can tackle the imbalanced data set limitation, which is a necessary constraint to train unbiased classifiers. Furthermore, language models can be easily adapted to the classification task with a procedure called "fine-tuning."
CONCLUSIONS
The use of social media data for the diagnosis of psychotic disorders is promising. However, most of the included studies had significant biases; we therefore could not draw conclusions about accuracy in clinical situations. Future studies need to use more accurate methodologies to obtain unbiased results.
Topics: Artificial Intelligence; Humans; Psychotic Disorders; Schizophrenia; Social Behavior; Social Media
PubMed: 36066938
DOI: 10.2196/36986 -
The American Journal of Psychiatry Sep 2018The authors conducted a systematic review and meta-analysis to determine whether the risk of psychosis is higher in past or future episodes in patients with major... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
The authors conducted a systematic review and meta-analysis to determine whether the risk of psychosis is higher in past or future episodes in patients with major depression with psychotic features than in patients with nonpsychotic depression.
METHOD
PubMed, Embase, and PsycINFO were searched, and studies were selected that 1) identified patients with unipolar major depression, 2) made diagnoses of psychosis based on the presence of delusions or hallucinations, 3) characterized past or subsequent episodes as psychotic or nonpsychotic, and 4) were published in English. Two meta-analyses were then conducted using data from patients having index depressive episodes with or without psychosis at study entry to determine the risk of any prior or subsequent psychotic episode and the risk of psychosis in all episodes.
RESULTS
Twelve studies met the inclusion criteria, and altogether they included 546 psychotic and 1,583 nonpsychotic patients with unipolar depression. In seven of the studies, the risk ratio for a prior or subsequent psychotic episode in patients whose index depressive episode was psychotic compared with those whose index episode was nonpsychotic was 9.98 (95% CI=4.75, 20.94). In eight studies, the risk ratio for psychosis among all episodes of depression in the subgroups with psychotic and nonpsychotic index episodes was 7.24 (95% CI=5.03, 10.43). Differences in risk of psychosis between these subgroups remained robust when potential sources of heterogeneity were explored.
CONCLUSIONS
The findings support the hypothesis that psychotic depression runs true to form, and they support the distinction between psychotic and nonpsychotic depression. Because patients with psychotic depression are at high risk for psychosis in future episodes, determination of effective preventive treatments is imperative.
Topics: Depressive Disorder, Major; Humans; Psychotic Disorders; Recurrence; Risk Factors
PubMed: 29792050
DOI: 10.1176/appi.ajp.2018.17101138 -
What is the prevalence of autism spectrum disorder and ASD traits in psychosis? A systematic review.Psychiatry Research Apr 2017There is increasing evidence to suggest both a symptomatic overlap and a clinically significant degree of co-occurrence between Autism Spectrum Disorders (ASD) and... (Review)
Review
There is increasing evidence to suggest both a symptomatic overlap and a clinically significant degree of co-occurrence between Autism Spectrum Disorders (ASD) and psychotic disorders such as schizophrenia but the nature of such relationships remain unclear. We reviewed the literature reporting prevalence rates of Autistic-like Traits (ALTs) and ASD in populations with a diagnosis of schizophrenia or other psychotic disorder. A search of three large databases was conducted and from this seven studies met the criteria for inclusion. The point prevalence rates for ALTs ranged from 9.6% to 61%, whilst the prevalence rates for diagnosed ASD ranged from <1% to 52% across outpatient and inpatient populations. This suggests that prevalence rates of ALTs and ASD in psychosis populations are much higher than in the general population. This has important implications regarding future research, and clinical implications in terms of ensuring that patients receive the most appropriate diagnosis and treatment.
Topics: Autism Spectrum Disorder; Comorbidity; Humans; Phenotype; Prevalence; Psychotic Disorders; Schizophrenia
PubMed: 28152400
DOI: 10.1016/j.psychres.2017.01.017