Thoughts on the behavioural phenotypes in Prader-Willi syndrome and velo-cardio-facial syndrome: a novel approach

2007 ◽  
Vol 19 (4) ◽  
pp. 244-250 ◽  
Author(s):  
Willem Verhoeven ◽  
Jos Egger ◽  
Siegfried Tuinier
Keyword(s):  
Psychotic Disorders ◽  
Bipolar Affective Disorder ◽  
Probabilistic Approach ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
Prader Willi Syndrome ◽  
Behavioural Phenotype ◽  
Genetic Syndrome ◽  
Increased Risk ◽  
Velo Cardio Facial Syndrome

Background:In both Prader-Willi syndrome (PWS) and 22q11 deletion syndrome [velo-cardio-facial syndrome (VCFS)], an increased risk for psychotic disorders is reported, which are as a rule not included in the behavioural phenotype of these two syndromes. For the description of a behavioural phenotype, the complete spectrum of physical, developmental, neuropsychological and psychiatric aspects is generally not taken into account. Moreover, psychiatric signs and symptoms often do not meet the criteria for a categorical diagnosis.Objective:In this study, a further specification of psychotic symptoms in PWS and VCFS is shown as well as a proposal for a new model to ascertain predictors, including behavioural, for a genetic syndrome.Methods:Over the past years, 27 patients with PWS and 19 with VCFS were referred for neuropsychiatric evaluation because of psychotic symptoms. In all the patients, a standardised psychiatric examination was performed; seven of the patients with VCFS were evaluated by means of an extensive neuropsychological battery.Results:In both patient groups, a rather specific psychopathological profile seemed to be present, which in the case of patients with PWS showed some resemblance with bipolar affective disorder. In patients with VCFS, no formal psychiatric diagnosis could be established. Because the psychopathological profiles were rather aspecific, they are not sufficient to predict membership of a certain syndrome.Conclusions:A quantitative probabilistic approach toward the description of a (behavioural) phenotype is suggested. For such a procedure, large data sets and international collaboration are required.

The interaction between neurocognitive functioning, subthreshold psychotic symptoms and pharmacotherapy in 22q11.2 deletion syndrome: A longitudinal comparative study

2018 ◽  
Vol 48 (1) ◽  
pp. 20-26 ◽  
Author(s):  
R. Weinberger ◽  
O. Weisman ◽  
Y. Guri ◽  
T. Harel ◽  
A. Weizman ◽  
...  
Keyword(s):  
Psychotic Disorders ◽  
22Q11.2 Deletion Syndrome ◽  
Structured Interview ◽  
Neurocognitive Functioning ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
Psychiatric Evaluation ◽  
Neurocognitive Performance ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome

AbstractBackgroundThe 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories.MethodsForty-four participants with 22q11DS, 19 with Williams syndrome (WS) and 30 typically developing (TD) controls, age range 12–35 years, were assessed at two time points (15.2 ± 2.1 months apart). Evaluation included the Structured Interview for Prodromal Symptoms (SIPS), structured psychiatric evaluation and the Penn Computerized Neurocognitive Battery (CNB).Results22q11DS individuals with SPS had a yearly conversion rate to psychotic disorders of 8.8%, compared to none in both WS and TD controls. Baseline levels of negative SPS were associated with global neurocognitive performance (GNP), executive function and social cognition deficits, in individuals with 22q11DS, but not in WS. Deficits in GNP predicted negative SPS in 22q11DS and the emergence or persistence of negative SPS. 22q11DS individuals treated with psychiatric medications showed significant improvement in GNP score between baseline and follow-up assessments, an improvement that was not seen in untreated 22q11DS.ConclusionsOur results highlight the time-dependent interplay among positive and negative SPS symptoms, neurocognition and pharmacotherapy in the prediction of the evolution of psychosis in 22q11DS.

Longitudinal study of premorbid adjustment in 22q11.2 deletion (velocardiofacial) syndrome and association with psychosis

2016 ◽  
Vol 29 (1) ◽  
pp. 93-106 ◽  
Author(s):  
Petya D. Radoeva ◽  
Wanda Fremont ◽  
Kevin M. Antshel ◽  
Wendy R. Kates
Keyword(s):  
Early Adolescence ◽  
Velocardiofacial Syndrome ◽  
Structured Interview ◽  
School Age Children ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
22Q11.2 Deletion ◽  
Prodromal Symptoms ◽  
Premorbid Adjustment ◽  
Increased Risk

AbstractVelocardiofacial syndrome, also known as 22q11.2 deletion syndrome (22q11DS), is associated with an increased risk of major psychiatric disorders, including schizophrenia. The emergence of psychotic symptoms in individuals with schizophrenia in the general population is often preceded by a premorbid period of poor or worsening social and/or academic functioning. Our current study evaluated premorbid adjustment (via the Cannon–Spoor Premorbid Adjustment Scale [PAS]) and psychotic symptoms (via the Structured Interview for Prodromal Symptoms and the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children—Present and Lifetime Version) in youth with 22q11DS (N = 96), unaffected siblings (N = 40), and community controls (N = 50). The PAS scores indicated greater maladjustment during all developmental periods in individuals with 22q11DS compared to the controls. Many participants with 22q11DS had chronically poor (n = 33) or deteriorating (n = 6) PAS scores. In 22q11DS, chronically poor PAS trajectories and poor childhood and early adolescence academic domain and total PAS scores significantly increased the risk of prodromal symptoms or overt psychosis. Taking into account the catechol-O-methyltransferase (COMT) genotype, the best predictor of (prodromal) psychosis was the early adolescence academic domain score, which yielded higher sensitivity and specificity in the subgroup of youth with 22q11DS and the high-activity (valine) allele. PAS scores may help identify individuals at higher risk for psychosis.

scholarly journals Associations between childhood trauma, bullying and psychotic symptoms among a school-based adolescent sample

2008 ◽  
Vol 193 (5) ◽  
pp. 378-382 ◽  
Author(s):  
Ian Kelleher ◽  
Michelle Harley ◽  
Fionnuala Lynch ◽  
Louise Arseneault ◽  
Carol Fitzpatrick ◽  
...  
Keyword(s):  
Domestic Violence ◽  
High Risk ◽  
Childhood Trauma ◽  
Psychotic Disorders ◽  
Traumatic Events ◽  
High Risk Group ◽  
Traumatic Experiences ◽  
Psychotic Symptoms ◽  
High Risk Population ◽  
Increased Risk

BackgroundChildren and adolescents who report psychotic symptoms appear to be at increased risk for psychotic disorders in adulthood – a putative ‘symptomatic’ high-risk group. However, little research has investigated whether those in this high-risk population have increased rates of exposure to traumatic events in childhood, as seen in patients who have a psychotic illness.AimsTo examine whether adolescents with psychotic symptoms have an increased rate of traumatic experiences.MethodPsychiatric interviews were carried out with 211 adolescents aged between 12 and 15 years and their parents as part of a population-based study. The interview enquired about a number of early traumatic events including physical and sexual abuse, exposure to domestic violence and bullying.ResultsFourteen adolescents (6.6% of those interviewed) reported experiencing at least one psychotic symptom. Adolescents who reported psychotic symptoms were significantly more likely to have been physically abused in childhood, to have been exposed to domestic violence and to be identified as a bully/victim (that is, both a perpetrator and victim of bullying) than those who did not report such symptoms. These findings were not confounded by comorbid psychiatric illness or family history of psychiatric history.ConclusionsOur findings suggest that childhood trauma may increase the risk of psychotic experiences. The characteristics of bully/victims deserve further study.

Implication of reward alterations in the expression of negative symptoms in 22q11.2 deletion syndrome: a behavioural and DTI study

2017 ◽  
Vol 47 (8) ◽  
pp. 1442-1453 ◽  
Author(s):  
L. Dubourg ◽  
M. Schneider ◽  
M. C. Padula ◽  
L. Chambaz ◽  
M. Schaer ◽  
...  
Keyword(s):  
Negative Symptoms ◽  
Diffusion Tensor ◽  
Structural Connectivity ◽  
22Q11.2 Deletion Syndrome ◽  
Reward System ◽  
Positive Symptom ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
22Q11.2 Deletion ◽  
Increased Risk

BackgroundAlterations of the reward system have been proposed as one of the core mechanisms underlying the expression of negative symptoms in schizophrenia. Specifically, deficits in specific reward components and white matter (WM) integrity of the reward system have been highlighted. The putative link between negative symptoms and the hedonic experience, or structural connectivity of the reward system has never been examined in the 22q11.2 deletion syndrome (22q11DS), a condition with increased risk for psychosis.MethodAnticipatory and consummatory dimensions of pleasure were assessed in participants with 22q11DS (N = 54) and healthy controls (N = 55). In patients with 22q11DS, the association between pleasure scores and positive or negative symptoms was investigated. Furthermore, WM integrity of the accumbofrontal tract was quantified using diffusion tensor imaging (DTI). Associations between DTI measures, pleasure dimensions and negative symptoms were examined.ResultsPatients with 22q11DS showed reduced anticipatory and consummatory pleasure compared to controls. Furthermore, anticipatory pleasure scores were negatively correlated to negative and positive symptoms in 22q11DS. WM microstructural changes of the accumbofrontal tract in terms of increased fractional anisotropy and reduced radial anisotropy were also identified in patients. However, no significant correlation between the DTI measures and pleasure dimensions or psychotic symptoms was observed.ConclusionsThis study revealed that participants with 22q11DS differed in their experience of pleasure compared to controls. The anticipatory pleasure component appears to be related to negative and positive symptom severity in patients. Alterations of WM integrity of the accumbofrontal tract seem to be related to myelination abnormalities in 22q11DS patients.

scholarly journals M76. ATYPICAL RESPONSE INHIBITION IN 22Q11.2DS: DIMINISHED ERROR REGISTRATION AND AWARENESS

2020 ◽  
Vol 46 (Supplement_1) ◽  
pp. S163-S164
Author(s):  
Ana Alves Francisco ◽  
Douwe J Horsthuis ◽  
John J Foxe ◽  
Sophie Molholm
Keyword(s):  
Executive Function ◽  
Response Inhibition ◽  
Neuropsychiatric Symptoms ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
False Alarms ◽  
Response Strategies ◽  
Prepotent Response ◽  
Velo Cardio Facial Syndrome

Abstract Background 22q11.2 deletion syndrome (22q11.2DS; also known as DiGeorge syndrome or velo-cardio-facial syndrome) is characterized by increased vulnerability for neuropsychiatric symptoms, with approximately 30% of the individuals with the deletion developing schizophrenia. Clinically, deficits in executive function have been noted in this population, but the underlying neural processes are not well understood. Methods Using high-density electrophysiology (EEG), we investigated the neural dynamics of inhibition of a prepotent response (a critical component of executive function) in individuals with 22q11.2DS with and without psychotic symptoms. Twenty-seven individuals with 22q11.2DS (14–35 years old, 14 with at least one psychotic symptom) and 27 age-matched neurotypical controls participated in a go/no-go task while EEG was recorded. Analyses were focused on the P3 go/no-go response and error-related positivity (Pe). Results Behaviorally, individuals with 22q11.2DS were slower and unable to inhibit prepotent responses as the controls, with significantly more false alarms. Atypical inhibitory processing was confirmed by significantly reduced P3 no-go responses in the 22q11.2DS group. Such reductions were particularly marked in those with psychotic symptomatology. Pe was likewise significantly decreased (regardless of the presence of psychotic symptoms), suggesting impaired ability to register errors (i.e., false alarms) in 22q11.2DS. Both Pe and P3 correlated with clinical measures of inhibition (DKEFS and CPT). Discussion To our knowledge, this is the first study looking at electrophysiological measures of response inhibition in 22q11.2DS. P3 and Pe reductions, which have also been shown in schizophrenia, suggest diminished error registration and awareness in 22q11.2DS and, possibly, a consequent difficulty in adjusting response strategies.

Low prevalence of substance use in people with 22q11.2 deletion syndrome

2019 ◽  
Vol 215 (5) ◽  
pp. 661-667 ◽  
Author(s):  
Claudia Vingerhoets ◽  
Mathilde J.F. van Oudenaren ◽  
Oswald J.N. Bloemen ◽  
Erik Boot ◽  
Esther D.A. van Duin ◽  
...  
Keyword(s):  
Substance Use ◽  
Substance Use Disorders ◽  
Psychotic Disorders ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Healthy Controls ◽  
22Q11.2 Deletion ◽  
Comt Genotype ◽  
Cross Sectional ◽  
Increased Risk

Background22q11.2 deletion syndrome (22q11DS), one of the most common recurrent copy number variant disorders, is associated with dopaminergic abnormalities and increased risk for psychotic disorders.AimsGiven the elevated prevalence of substance use and dopaminergic abnormalities in non-deleted patients with psychosis, we investigated the prevalence of substance use in 22q11DS, compared with that in non-deleted patients with psychosis and matched healthy controls.MethodThis cross-sectional study involved 434 patients with 22q11DS, 265 non-deleted patients with psychosis and 134 healthy controls. Psychiatric diagnosis, full-scale IQ and COMT Val158Met genotype were determined in the 22q11DS group. Substance use data were collected according to the Composite International Diagnostic Interview.ResultsThe prevalence of total substance use (36.9%) and substance use disorders (1.2%), and weekly amounts of alcohol and nicotine use, in patients with 22q11DS was significantly lower than in non-deleted patients with psychosis or controls. Compared with patients with 22q11DS, healthy controls were 20 times more likely to use substances in general (P < 0.001); results were also significant for alcohol and nicotine use separately. Within the 22q11DS group, there was no relationship between the prevalence of substance use and psychosis or COMT genotype. Male patients with 22q11DS were more likely to use substances than female patients with 22q11DS.ConclusionsThe results suggest that patients with 22q11DS are at decreased risk for substance use and substance use disorders despite the increased risk of psychotic disorders. Further research into neurobiological and environmental factors involved in substance use in 22q11DS is necessary to elucidate the mechanisms involved.Declaration of interestNone.

scholarly journals Incidence of schizophrenia and other psychoses in ethnic minority groups: results from the MRC AESOP Study

2006 ◽  
Vol 36 (11) ◽  
pp. 1541-1550 ◽  
Author(s):  
PAUL FEARON ◽  
JAMES B. KIRKBRIDE ◽  
CRAIG MORGAN ◽  
PAOLA DAZZAN ◽  
KEVIN MORGAN ◽  
...  
Keyword(s):  
Ethnic Minority ◽  
Psychotic Disorders ◽  
Minority Groups ◽  
Age Groups ◽  
Incidence Rates ◽  
Psychotic Symptoms ◽  
Ethnic Minority Groups ◽  
Black Africans ◽  
Increased Risk ◽  
Rate Ratios

Background. The incidence of schizophrenia in the African-Caribbean population in England is reported to be raised. We sought to clarify whether (a) the rates of other psychotic disorders are increased, (b) whether psychosis is increased in other ethnic minority groups, and (c) whether particular age or gender groups are especially at risk.Method. We identified all people (n=568) aged 16–64 years presenting to secondary services with their first psychotic symptoms in three well-defined English areas (over a 2-year period in Southeast London and Nottingham and a 9-month period in Bristol). Standardized incidence rates and incidence rate ratios (IRR) for all major psychosis syndromes for all main ethnic groups were calculated.Results. We found remarkably high IRRs for both schizophrenia and manic psychosis in both African-Caribbeans (schizophrenia 9·1, manic psychosis 8·0) and Black Africans (schizophrenia 5·8, manic psychosis 6·2) in men and women. IRRs in other ethnic minority groups were modestly increased as were rates for depressive psychosis and other psychoses in all minority groups. These raised rates were evident in all age groups in our study.Conclusions. Ethnic minority groups are at increased risk for all psychotic illnesses but African-Caribbeans and Black Africans appear to be at especially high risk for both schizophrenia and mania. These findings suggest that (a) either additional risk factors are operating in African-Caribbeans and Black Africans or that these factors are particularly prevalent in these groups, and that (b) such factors increase risk for schizophrenia and mania in these groups.

Prevalence and associated risk factors of psychotic symptoms in homeless people in France

2017 ◽  
Vol 41 (S1) ◽  
pp. S341-S341
Author(s):  
A. Tortelli ◽  
F. Perquier ◽  
V. Le Masson ◽  
D. Sauze ◽  
N. Skurnik ◽  
...  
Keyword(s):  
Sexual Abuse ◽  
General Population ◽  
Childhood Abuse ◽  
Early Life ◽  
Psychotic Disorders ◽  
Homeless People ◽  
Psychotic Symptoms ◽  
Psychological Violence ◽  
Increased Risk ◽  
Significant Difference

IntroductionHomeless people are more likely to have higher prevalence of psychotic disorders than general population. However, we know less about the prevalence of psychotic symptoms in this group.ObjectivesTo estimate the lifetime and current prevalence of psychotic symptoms and their correlates among homeless people living in the Paris metropolitan area.MethodsWe analysed data from 839 homeless randomly selected for the “Samenta” survey that studied mental health and addiction problems in this population. The mini-international neuropsychiatric interview was used to assess psychotic symptoms. Separate multivariate logistic regression analyses were conducted to estimate the associations of sociodemographic characteristics (age, gender, education level and migrant status), early life experiences (sexual abuse, physical and psychological violence, substance use) and psychiatric disorders.ResultsThe lifetime prevalence of psychotic symptoms was 35.4% (95% CI = 28.1–43.5) and the prevalence of current symptoms was 14,0% (95% CI = 9,8–19,6) with no significant difference between migrant and native groups, after exclusion of subjects with a diagnosis of psychotic disorder (n = 145). In multi-adjusted models, childhood sexual abuse was associated with an increased risk of lifetime or current psychotic symptoms (OR > 4, P < 0.05). Early life psychological violence was strongly associated with the risk of lifetime psychotic symptoms in natives (OR = 6.33; 95% CI = 2.10–19.0), whereas alcohol misuse in adolescence was related to lifetime or current psychotic symptoms in migrants (OR = 3.34; 95% CI = 1.20–9.37).ConclusionHomeless people are at higher risk of psychotic symptoms compared to the general population in France. Our findings are consistent with the hypothesis that childhood abuse is an important risk factor of the psychosis continuum.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Ethnic minority position and migrant status as risk factors for psychotic symptoms in the general population: a meta-analysis

2018 ◽  
Vol 49 (4) ◽  
pp. 545-558 ◽  
Author(s):  
Edouard Leaune ◽  
Marie-Jose Dealberto ◽  
David Luck ◽  
Stéphanie Grot ◽  
Halima Zeroug-Vial ◽  
...  
Keyword(s):  
General Population ◽  
Ethnic Minority ◽  
Ethnic Groups ◽  
Psychotic Disorders ◽  
Meta Analysis ◽  
Psychotic Symptoms ◽  
Migrant Status ◽  
Increased Risk ◽  
Black Populations

AbstractPsychotic symptoms (PS) are experienced by a substantial proportion of the general population. When not reaching a threshold of clinical relevance, these symptoms are defined as psychotic experiences (PEs) and may exist on a continuum with psychotic disorders. Unfavorable socio-environmental conditions, such as ethnic minority position (EMP) and migrant status (MS), may increase the risk of developing PS and PEs. We conducted an electronic systematic review and a meta-analysis assessing the role of EMP and MS for the development and persistence of PS in the general population. Sub-group analyses were performed investigating the influence of ethnic groups, host countries, age, types of PS, and scales. Twenty-four studies met our inclusion criteria. EMP was a relevant risk factor for reporting PS [odds ratio (OR) 1.44, 95% confidence interval (CI) 1.22–1.70) and PEs (OR 1.36, 95% CI 1.16–1.60). The greatest risk was observed in people from the Maghreb and the Middle East ethnic groups in Europe (OR 3.30, 95% CI 2.09–5.21), in Hispanic in the USA (OR 1.98, 95% CI 1.43–2.73), and in the Black populations (OR 1.85, 95% CI 1.39–2.47). We found a significant association between MS and delusional symptoms (OR 1.47, 95% CI 1.33–1.62). We found no association between EMP and persistence of PEs.EMP was associated with increased risk of reporting PS and PEs, and the risk was higher in ethnic groups facing deprivation and discrimination. We found an association between MS and delusional symptoms. These results raise questions about the precise role of socio-environmental factors along the psychosis continuum.

Substance use in psychiatric crisis: relationship to violence

2020 ◽  
pp. 1-7
Author(s):  
Nicola J. Kalk ◽  
John E. Robins ◽  
Kezia R. Ross ◽  
Megan Pritchard ◽  
Michael T. Lynskey ◽  
...  
Keyword(s):  
Substance Use ◽  
Psychotic Disorders ◽  
Healthcare Setting ◽  
Psychotic Symptoms ◽  
Emergency Setting ◽  
Violent Behaviour ◽  
Stimulant Use ◽  
Healthcare Settings ◽  
Increased Risk ◽  
The Relationship

Abstract Background Substance use and psychiatric illness, particularly psychotic disorders, contribute to violence in emergency healthcare settings. However, there is limited research regarding the relationship between specific substances, psychotic symptoms and violent behaviour in such settings. We investigated the interaction between recent cannabinoid and stimulant use, and acute psychotic symptoms, in relation to violent behaviour in a British emergency healthcare setting. Methods We used electronic medical records from detentions of 1089 individuals under Section 136 of the UK Mental Health Act (1983 amended 2007), an emergency police power used to detain people for 24–36 h for psychiatric assessment. The relationship between recent cannabinoids and/or stimulant use, psychotic symptoms, and violent behaviour, was estimated using logistic regression. Findings There was evidence of recent alcohol or drug use in 64.5% of detentions. Violent incidents occurred in 12.6% of detentions. Psychotic symptoms increased the odds of violence by 4.0 [95% confidence intervals (CI) 2.2–7.4; p < 0.0001]. Cannabinoid use combined with psychotic symptoms increased the odds of violence further [odds ratios (OR) 7.1, 95% CI 3.7–13.6; p < 0.0001]. Recent use of cannabinoids with stimulants but without psychotic symptoms was also associated with increased odds of violence (OR 3.3, 95% CI 1.4–7.9; p < 0.0001). Interpretation In the emergency setting, patients who have recently used cannabinoids and exhibit psychotic symptoms are at higher risk of violent behaviour. Those who have used both stimulants and cannabinoids without psychotic symptoms may also be at increased risk. De-escalation protocols in emergency healthcare settings should account explicitly for substance use.

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